gene rsid variant chr pos ref alt grch37_locus INFO AF AC_Hom AC_Het variant_category Mode of inheritance (OMIM) ClinVar: Clinical significance ClinVar: Category ClinVar: Review ClinVar: Review Category ClinVar: Associated Phenotype top_associated_phenotype_add top_add_pval top_add_beta top_add_sebeta top_associated_phenotype_rec top_rec_pval top_rec_beta top_rec_sebeta SAMD11 rs41285790 1:930248:G:A 1 930248 G A 1:865628 0.871264 629 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Specific personality disorders 0.000231 1.1598 0.315 SAMD11 rs568340123 1:939398:GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA:G 1 939398 GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA G 1:874778 0.912416 0.0835084 2628 28052 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons with potential health hazards related to family and personal history and certain conditions influencing health status 2.75e-05 0.0921 0.022 Mental retardation 0.001266 0.999 0.31 KLHL17 rs138690517 1:961629:A:G 1 961629 A G 1:897009 0.818599 1769 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Infective bursitis 0.00057 2.3933 0.6946 Contusion of toe(s) without damage to nail 0.0008171 89.755 26.817 ISG15 rs1921 1:1014228:G:A 1 1014228 G A 1:949608 0.988585 91336 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of kidney and ureter 0.000355 0.1492 0.0418 Other specified disorders of kidney and ureter 0.0001329 0.268 0.07 AGRN rs201073369 1:1020239:G:C 1 1020239 G C 1:955619 0.975998 2424 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not provided;not specified Other assisted single delivery 0.000318 3.3466 0.9296 Paralytic ileus and intestinal obstruction 0.001796 6.764 2.167 AGRN rs200607541 1:1041218:C:T 1 1041218 C T 1:976598 0.971232 5706 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not specified Other and unspecified immunodeficiencies with predominantly antibody defects 0.000885 1.8855 0.5671 Abnormal serum enzyme levels 0.0007259 3.208 0.949 AGRN rs150359724 1:1041583:A:G 1 1041583 A G 1:976963 0.98973 261 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 0.00104 -0.5837 0.1779 AGRN rs138031468 1:1041648:G:T 1 1041648 G T 1:977028 0.851752 848 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not provided;not specified Pyogenic arthritis 0.0014 1.8951 0.5932 Other respiratory disorders and diseases 4.019e-05 26.889 6.548 AGRN rs201280723 1:1042016:G:A 1 1042016 G A 1:977396 0.963614 920 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personal history of other diseases and conditions 0.00112 1.66 0.5094 AGRN rs138288952 1:1043382:G:A 1 1043382 G A 1:978762 0.873557 2859 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not specified Adhesive middle ear disease 0.000223 2.7667 0.7496 Other puerperal infections 0.0004713 13.576 3.883 AGRN rs79016973 1:1043594:G:A 1 1043594 G A 1:978974 0.987898 9112 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not provided;not specified Unspecified maternal hypertension 0.000263 1.6325 0.4474 Chronic pancreatitis 0.001003 2.266 0.689 AGRN rs143324306 1:1044017:G:A 1 1044017 G A 1:979397 0.952978 0.012842 62 4656 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not provided;not specified Symptoms and signs involving the circulatory and respiratory systems 8.92e-06 0.1601 0.036 Other facial nerve disorders 0.0003357 17.485 4.876 AGRN rs113288277 1:1044368:A:T 1 1044368 A T 1:979748 0.980085 0.0331856 432 11760 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not specified Emotional disorders starting during childhood or adolecense 4.36e-05 0.7414 0.1814 Autism 0.0002987 7.187 1.987 AGRN rs140764403 1:1045172:G:A 1 1045172 G A 1:980552 0.966998 1366 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not specified Essential (haemorrhagic) thrombocythaemia 0.000212 3.1884 0.8608 Bullous pemphigoid 0.0005377 136.993 39.579 AGRN rs146243145 1:1045488:G:A 1 1045488 G A 1:980868 0.954034 269 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other ulcerative colitis 0.00019 5.3286 1.428 AGRN rs9697293 1:1045751:A:G 1 1045751 A G 1:981131 0.972182 5730 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not specified Non-invasive ventilation 0.000923 1.0337 0.312 Abnormal serum enzyme levels 0.0007327 3.2 0.948 AGRN rs116836855 1:1045973:C:T 1 1045973 C T 1:981353 0.983782 396 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not provided;not specified Other secondary coxarthrosis 0.00278 4.6038 1.5393 Other diseases of upper respiratory tract 0 2.855 0 AGRN rs3813188 1:1046562:C:A 1 1046562 C A 1:981942 0.986727 9062 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not provided;not specified Other symptoms and signs involving the nervous and musculoskeletal systems 0.000138 -0.2629 0.069 Chronic pancreatitis 0.001182 2.172 0.67 AGRN rs150132566 1:1046833:G:C 1 1046833 G C 1:982213 0.989904 565 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy, Hypertrophic obstructive 0.000223 6.6158 1.792 AGRN rs149159118 1:1046922:C:A 1 1046922 C A 1:982302 0.97904 2351 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myasthenic syndrome, congenital, 8 Inflammatory bowel disease 0.000703 -0.4828 0.1425 Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system 0.001301 68.128 21.186 AGRN rs142416636 1:1047342:A:G 1 1047342 A G 1:982722 0.979049 2189 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not specified Spinal stenosis 0.000399 -0.4533 0.128 Benign neoplasm: Larynx 0.002142 43.089 14.036 AGRN rs142620337 1:1047863:C:T 1 1047863 C T 1:983243 0.987384 1143 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not specified Other/unspecified seropositiverheumatoid arthritis 0.00132 0.7642 0.2379 Malignant neoplasm of breast 4.262e-06 2.797 0.608 AGRN rs139294803 1:1048126:C:T 1 1048126 C T 1:983506 0.870603 591 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy, Hypertrophic obstructive 0.000381 5.8936 1.6588 AGRN rs144620006 1:1049289:C:T 1 1049289 C T 1:984669 0.93919 1232 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not specified Coagulation defects, purpura and other haemorrhagic conditions 0.000275 1.1126 0.3058 Dislocation, sprain and strain of joints and ligaments of knee 0.0006557 5.421 1.591 AGRN rs111818381 1:1049591:G:A 1 1049591 G A 1:984971 0.901791 1904 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not provided;not specified Malignant neoplasm of liver and intrahepatic bile ducts (other cancers excluded from controls) 0.000668 2.9086 0.8548 Cardiomyopathy, other and unspecified 0.0006307 26.448 7.738 AGRN rs2799068 1:1049690:G:A 1 1049690 G A 1:985070 0.918456 800 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Traumatic amputation of wrist and hand 0.00146 2.7284 0.8573 AGRN rs145444272 1:1050785:G:A 1 1050785 G A 1:986165 0.986914 5618 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myasthenic syndrome, congenital, 8;not specified Diabetic retinopathy (more controls excluded) 0.000483 0.2114 0.0606 Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 0.003453 5.498 1.88 AGRN rs144245019 1:1051352:G:A 1 1051352 G A 1:986732 0.855996 1079 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Symptoms and signs involving the nervous and musculoskeletal systems 4e-04 -0.6391 0.1805 TNFRSF4 rs150407012 1:1212082:A:G 1 1212082 A G 1:1147462 0.990462 488 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of upper respiratory tract 0.00081 0.4017 0.1199 TNFRSF4 rs35304565 1:1214100:G:A 1 1214100 G A 1:1149480 0.953964 2138 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 16 Colitis, primary sclerosing 0.000141 3.9109 1.0273 Voice disturbances 0.0001747 7.807 2.08 DVL1 rs201374747 1:1337985:T:C 1 1337985 T C 1:1273365 0.882121 0.000623319 0 229 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Genitourinary diseases 9.45e-05 0.5699 0.146 DVL1 rs140107023 1:1338410:T:C 1 1338410 T C 1:1273790 0.908413 497 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Ganglion 0.000571 1.3143 0.3815 Ulcer of oesophagus 8.311e-05 19.842 5.042 DVL1 rs144365982 1:1340424:G:C 1 1340424 G C 1:1275804 0.912224 359 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Injuries to the thorax 0.00023 1.2955 0.3517 Statin medication 0 1.634 0 ATAD3B rs141143061 1:1482547:C:T 1 1482547 C T 1:1417927 0.872397 285 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy, Hypertrophic obstructive 0.00171 7.8458 2.501 TMEM240 rs187039783 1:1535637:C:T 1 1535637 C T 1:1471017 0.850641 173 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Special screening examination for other diseases and disorders 0.000551 3.7275 1.079 GABRD rs41307846 1:2028260:G:A 1 2028260 G A 1:1959699 0.95223 0.0382702 590 13470 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, idiopathic generalized 10;Epilepsy, juvenile myoclonic 7;Generalized epilepsy with febrile seizures plus type 5;Idiopathic generalized epilepsy;not provided Tarsal tunnel syndrome 1.25e-05 1.8284 0.4186 Carcinoma in situ of skin of lower limb, including hip 0.0005118 6.124 1.763 SKI rs75280988 1:2303352:C:T 1 2303352 C T 1:2234791 0.85043 327 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter General examination and investigation of persons without complaint and reported diagnosis 0.000642 0.7874 0.2307 PEX10 rs34154371 1:2406576:T:C 1 2406576 T C 1:2338015 0.964487 5127 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peroxisome biogenesis disorder, complementation group 7;not specified Meniscus derangement 0.000416 -0.2259 0.064 Counselling related to sexual attitude, behaviour and orientation 0.001639 25.982 8.251 PEX10 rs61736380 1:2406784:C:G 1 2406784 C G 1:2338223 0.950004 196 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin of lip 0.000159 18.2197 4.8246 PEX10 rs184150138 1:2408525:C:T 1 2408525 C T 1:2339964 0.958254 117 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hydrocele 0.00109 3.481 1.0658 PLCH2 rs200040569 1:2479937:G:A 1 2479937 G A 1:2411376 0.993154 3277 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personality disorders 0.000276 0.4301 0.1183 0.001778 -1.253 0.401 PLCH2 rs142848828 1:2498647:G:GGTGGGGGCC 1 2498647 G GGTGGGGGCC 1:2430086 0.985125 22406 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Heartburn 0.000974 0.3319 0.1006 Deforming dorsopathies 0.0002082 0.546 0.147 TNFRSF14 rs4870 1:2556714:A:G 1 2556714 A G 1:2488153 0.999001 0.475081 83322 91217 missense_variant unknown not provided not_provided no assertion provided none Other/unspecified seropositiverheumatoid arthritis 5.47e-05 -0.1023 0.0254 Fourth [trochlear] nerve palsy 0.001091 -0.281 0.086 TNFRSF14 rs2234163 1:2559867:G:A 1 2559867 G A 1:2491306 0.984052 0.00277091 12 1006 missense_variant unknown not provided not_provided no assertion provided none not specified Other disorders of breast 7.97e-05 1.7977 0.4557 Amyloidosis, other/unspecified 0.0005718 129.19 37.505 TNFRSF14 rs2234167 1:2562891:G:A 1 2562891 G A 1:2494330 0.997365 0.121966 5706 39103 missense_variant unknown not provided not_provided no assertion provided none Hypothyroidism,other/unspecified 5.85e-05 0.0738 0.0184 Other assisted single delivery 3.978e-05 1.816 0.442 MMEL1 rs149776280 1:2592689:A:G 1 2592689 A G 1:2524128 0.99203 1675 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other acute lower respiratory infections 0.00043 0.4344 0.1234 Acute appendicitis 0.0004459 4.79 1.364 MMEL1 rs138340138 1:2605602:T:G 1 2605602 T G 1:2537041 0.994322 2899 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other reactioin to severe stress, and adjustment disorders 0.000956 0.3619 0.1096 Cardiovascular diseases 0.0002115 -1.155 0.312 PRDM16 rs187194973 1:3186187:G:A 1 3186187 G A 1:3102751 0.979529 972 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Left ventricular noncompaction 8;not specified Dislocation, sprain and strain of joints and ligaments at ankle and foot level 0.00195 0.6524 0.2106 Intracerebral haemmorrhage 0.00208 43.974 14.284 PRDM16 rs870124 1:3411794:T:C 1 3411794 T C 1:3328358 0.966907 28829 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of the musculoskeletal system and connective tissue 0.000166 0.052 0.0138 0.0001455 0.028 0.007 PRDM16 rs2493292 1:3412095:C:T 1 3412095 C T 1:3328659 0.996157 0.109448 4530 35680 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Cardiovascular diseases 2.58e-06 0.0638 0.0136 7.423e-05 0.13 0.033 PRDM16 rs200109766 1:3412384:C:G 1 3412384 C G 1:3328948 0.980551 484 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disorders involving the immune mechanism, not elsewhere classified 0.000284 6.3087 1.738 PRDM16 rs201904226 1:3412649:G:A 1 3412649 G A 1:3329213 0.851272 398 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorder of external ear, unspecified 0.000303 7.3584 2.0368 PRDM16 rs371654192 1:3412665:G:A 1 3412665 G A 1:3329229 0.959479 1516 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Left ventricular noncompaction 8;not specified Other symptoms and signs involving the digestive system and abdomen 0.00118 0.8815 0.2718 Congenital obstructive defects of renal pelvis and congenital malformations of ureter 0.0008569 96.876 29.059 PRDM16 rs371654192 1:3412665:G:C 1 3412665 G C 1:3329229 0.885398 266 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other heart diseases 0.00062 0.5398 0.1577 PRDM16 rs377029492 1:3412763:G:A 1 3412763 G A 1:3329327 0.861894 231 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Acute pancreatitis 0.00191 2.3866 0.7687 PRDM16 rs199972068 1:3432065:A:T 1 3432065 A T 1:3348629 0.984644 574 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Psoriasis vulgaris 0.000166 1.6473 0.4374 MEGF6 rs41315294 1:3498793:C:T 1 3498793 C T 1:3415357 0.860768 330 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic ischaemia of muscle 0.000893 10.1972 3.0692 CCDC27 rs76597070 1:3752792:G:A 1 3752792 G A 1:3669356 0.985238 1893 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizoid personality disorder 0.000429 2.4497 0.6957 Convergence insufficiency and excess 0.000423 176.298 50.01 CEP104 rs148465057 1:3829868:G:A 1 3829868 G A 1:3746432 0.97197 477 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified erythematous conditions 0.00261 4.6779 1.5541 CEP104 rs145728798 1:3836643:T:C 1 3836643 T C 1:3753207 0.984294 5058 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Femoral hernia 0.000603 0.9022 0.263 Phobic anxiety disorders 0.000111 4.801 1.242 NPHP4 rs35641267 1:5863367:A:T 1 5863367 A T 1:5923427 0.914442 123 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified types of non-Hodgkin lymphoma 0.00135 8.7099 2.7178 NPHP4 rs139022622 1:5866443:G:A 1 5866443 G A 1:5926503 0.993746 811 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Recurrent and persistent haematuria 0.00021 5.2697 1.4218 NPHP4 rs113445782 1:5867109:G:A 1 5867109 G A 1:5927169 0.992079 1911 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nephronophthisis;Renal dysplasia and retinal aplasia;not specified Paralytic ileus and intestinal obstruction 0.000255 0.693 0.1895 Tongue abnormality 0.0018 45.595 14.607 NPHP4 rs139767853 1:5867883:G:A 1 5867883 G A 1:5927943 0.986862 567 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Guillain-Barre syndrome 0.00083 6.6712 1.9958 NPHP4 rs199645515 1:5874979:G:A 1 5874979 G A 1:5935039 0.813079 212 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis of rectovaginal septum and vagina 0.00231 3.5424 1.1625 NPHP4 rs187947581 1:5875004:T:C 1 5875004 T C 1:5935064 0.976473 0.00804055 32 2922 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Symptoms and signs involving the urinary system 9.4e-05 0.3112 0.0797 Burns and corrosions of external body surface, specified by site 0.0008666 11.109 3.335 NPHP4 rs183885357 1:5875036:C:T 1 5875036 C T 1:5935096 0.956187 880 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Juvenile arthritis (FINNGEN) 0.000734 2.3903 0.7079 NPHP4 rs17472401 1:5880183:G:A 1 5880183 G A 1:5940243 0.99555 8950 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nephronophthisis;not specified Benign neoplasm: Vagina (other cancers excluded from controls) 0.000419 1.3816 0.3916 Abnormal spermatozoa 0.0001709 3.361 0.894 NPHP4 rs34248917 1:5890953:C:T 1 5890953 C T 1:5951013 0.978018 0.038311 556 13519 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;Renal dysplasia and retinal aplasia;not specified Diseases of the skin and subcutaneous tissue 3.59e-05 0.0883 0.0214 Convergent concomitant strabismus 0.0002121 2.584 0.698 NPHP4 rs571655 1:5905395:C:T 1 5905395 C T 1:5965455 0.994637 3640 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;Nephronophthisis 4;not specified Other diabetes, wide definition 0.000167 0.2111 0.0561 Colorectal cancer 0.001448 4.056 1.273 NPHP4 rs200684272 1:5948118:G:A 1 5948118 G A 1:6008178 0.945554 381 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rheumatic fever incl heart disease 0.000289 4.8725 1.344 NPHP4 rs201124357 1:5952710:T:A 1 5952710 T A 1:6012770 0.95555 498 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mycoses 0.000137 1.5141 0.397 NPHP4 rs201065230 1:5978278:A:G 1 5978278 A G 1:6038338 0.985574 317 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pregnancy with abortive outcome 0.000124 0.791 0.2061 Other arrhytmias 0.0003759 4.121 1.159 NPHP4 rs12142270 1:5986204:G:A 1 5986204 G A 1:6046264 0.999571 15350 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;Renal dysplasia and retinal aplasia;not specified Acute renal failure 0.000266 0.3326 0.0912 Other and unspecified vasculitis limited to skin 0.0002684 4.545 1.247 NPHP4 rs145078518 1:5986283:C:A 1 5986283 C A 1:6046343 0.954206 0.000519886 2 189 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Follicular lymphoma (other cancers excluded from controls) 3.06e-06 13.7854 2.9541 ESPN rs199562318 1:6425245:T:A 1 6425245 T A 1:6485305 0.924437 195 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Personal history of other diseases and conditions 0.000454 4.3716 1.2466 ESPN rs139266211 1:6445757:C:T 1 6445757 C T 1:6505817 0.961286 3593 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Obesity related asthma 0.000175 0.5199 0.1385 Other bursal cyst 4.969e-05 43.85 10.808 TNFRSF25 rs34221914 1:6462148:G:A 1 6462148 G A 1:6522208 0.834085 125 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Invasive ventilation 0.000595 9.0081 2.6234 PLEKHG5 rs76625876 1:6468408:C:T 1 6468408 C T 1:6528468 0.996566 27998 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Distal spinal muscular atrophy;not specified Localized scleroderma [morphea] 0.000128 0.8906 0.2325 Biliary chirrosis, primary 0.0002854 1.999 0.551 PLEKHG5 rs61740145 1:6471064:T:C 1 6471064 T C 1:6531124 0.996425 28084 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Distal spinal muscular atrophy Malignant neoplasm of cervix uteri (other cancers excluded from controls) 0.000129 -0.2774 0.0725 Biliary chirrosis, primary 0.0002872 1.996 0.55 PLEKHG5 rs74809741 1:6471529:C:T 1 6471529 C T 1:6531589 0.983717 8964 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Distal spinal muscular atrophy Other Chron's disease 0.00105 -0.5724 0.1747 Symptoms and signs involving the nervous and musculoskeletal systems 0.0004628 0.954 0.272 PLEKHG5 rs61730399 1:6473042:C:T 1 6473042 C T 1:6533102 0.989339 832 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy;Distal spinal muscular atrophy, autosomal recessive 4;not specified Other anxiety disorders 0.00108 0.6742 0.2062 Other/unspecified cytomegaloviral diseases 0.000325 205.592 57.196 PLEKHG5 rs61741379 1:6473333:G:C 1 6473333 G C 1:6533393 0.976333 49564 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of cervix uteri (other cancers excluded from controls) 0.000147 -0.2077 0.0547 Organic, including symptomatic, mental disorders 0.001315 0.131 0.041 PLEKHG5 rs143484278 1:6474072:C:T 1 6474072 C T 1:6534132 0.997321 2755 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease, recessive intermediate c;Distal spinal muscular atrophy;Distal spinal muscular atrophy, autosomal recessive 4;not specified Mouth breathing 0.000163 0.4303 0.1141 9.081e-05 1.843 0.471 PLEKHG5 rs141032388 1:6474583:C:T 1 6474583 C T 1:6534643 0.923587 0.000606988 0 223 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other arrhytmias 5.59e-05 1.3638 0.3385 PLEKHG5 rs199745947 1:6475991:C:T 1 6475991 C T 1:6536051 0.903411 220 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other acquired deformities of musculoskeletal system and connective tissue 0.000328 7.9173 2.2042 PLEKHG5 rs111400494 1:6475992:G:A 1 6475992 G A 1:6536052 0.977155 515 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Postpartum care and examination 0.00153 1.456 0.4596 PLEKHG5 rs75490131 1:6485330:A:T 1 6485330 A T 1:6545390 0.993693 0.151927 8564 47252 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of cervix uteri (other cancers excluded from controls) 4.63e-05 -0.2282 0.056 Fourth [trochlear] nerve palsy 0.0001311 1.067 0.279 TAS1R1 rs41278022 1:6578865:C:T 1 6578865 C T 1:6638925 0.970221 3270 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lagophthalmos 0.000207 3.4715 0.9356 Unspecified acute lower respiratory infection 0.0004029 6.223 1.759 CAMTA1 rs151133441 1:7663533:A:G 1 7663533 A G 1:7723593 0.965754 582 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (undefined) (more controls excluded) 0.00024 7.8901 2.1483 CAMTA1 rs41278952 1:7737443:C:G 1 7737443 C G 1:7797503 0.992047 0.0951256 3330 31618 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Intestinal adhesions without obstruction 4.17e-05 0.3549 0.0866 Benign neoplasm: Rectum/anal canal icd-9 (other cancers excluded from controls) 0.0003884 2.265 0.638 CAMTA1 rs61743209 1:7737474:C:T 1 7737474 C T 1:7797534 0.990493 2259 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Pituitary gland, craniopharyngeal duct (other cancers excluded from controls) 0.000118 1.8077 0.4695 Peripheral retinal degeneration 0.003786 26.975 9.316 CAMTA1 rs148888397 1:7737559:G:A 1 7737559 G A 1:7797619 0.994055 2453 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Guillain-Barre syndrome 0.000691 2.887 0.8508 Hydatidiform mole 0.001179 74.198 22.874 CAMTA1 rs41278954 1:7737565:A:C 1 7737565 A C 1:7797625 0.991922 16553 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter malignant neoplasm of female genital organs (other cancers excluded from controls) 0.00258 0.1875 0.0622 Ascites 0.0002397 2.071 0.564 PER3 rs150812083 1:7809893:C:G 1 7809893 C G 1:7869953 0.999047 0.0270804 232 9717 missense_variant dominant Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Advanced sleep phase syndrome, familial, 3;Advanced sleep phase syndrome, familial, 3 Hypothyroidism,other/unspecified 9.77e-05 -0.1437 0.0369 Idiopathic pulmonary fibrosis (attempt to specificity) 0.0002679 4.374 1.2 PER3 rs139315125 1:7809900:A:G 1 7809900 A G 1:7869960 0.998967 0.0268681 272 9599 missense_variant dominant Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Advanced sleep phase syndrome, familial, 3;Advanced sleep phase syndrome, familial, 3 Hypothyroidism,other/unspecified 4.17e-05 -0.1516 0.037 Maternal care for other conditions predominantly related to pregnancy 0.0004869 1.501 0.43 PER3 rs140974114 1:7827202:G:A 1 7827202 G A 1:7887262 0.989643 634 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Femoral hernia, unilateral 0.00044 4.491 1.2776 TNFRSF9 rs9657963 1:7938763:C:T 1 7938763 C T 1:7998823 0.923022 0.00107788 0 396 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adjustment and management of implanted device 5.43e-05 2.9604 0.7335 PARK7 rs71653619 1:7970934:G:A 1 7970934 G A 1:8030994 0.927564 487 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other mental disorders due to brain damage and dysfunction and to physical disease 0.000673 2.4518 0.721 RERE rs557606465 1:8359808:GCTCCTT:G 1 8359808 GCTCCTT G 1:8419868 0.903656 257 inframe_indel dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on antenatal screening of mother 0.000939 4.529 1.369 RERE rs144174535 1:8466011:C:T 1 8466011 C T 1:8526071 0.994697 0.00189173 2 693 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joint and ligaments of hip 7.52e-05 5.2033 1.3142 RERE rs191964644 1:8656247:T:TCGGTCC 1 8656247 T TCGGTCC 1:8716306 0.99186 5762 inframe_indel dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pneumonia, organism unsepcified 0.000449 0.1603 0.0457 Seborrhoeic keratosis 0.0001105 3.672 0.95 H6PD rs139855605 1:9244919:CCCCAGGCA:C 1 9244919 CCCCAGGCA C 1:9304978 0.9989 0.172719 11186 52269 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other deformities of toe(s) 7.22e-05 0.3853 0.0971 Other deformities of toe(s) 0.0006598 0.536 0.158 H6PD rs139416629 1:9245334:C:T 1 9245334 C T 1:9305393 0.995424 4523 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-rheumatic valve diseases 0.000903 -0.2699 0.0813 Arthropod-borne viral fevers and viral haemorrhagic fevers 0.000683 5.483 1.614 H6PD rs143104068 1:9246973:C:T 1 9246973 C T 1:9307032 0.85645 1342 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injuries involving multiple body regions 0.000529 3.8099 1.0993 Cardiovascular diseases (excluding rheumatic etc) 0 2.867 0 H6PD rs6688832 1:9263851:G:A 1 9263851 G A 1:9323910 0.989274 62808 missense_variant recessive Uncertain significance VUS no assertion criteria provided no_Criteria Varicose veins 0.000513 -0.0608 0.0175 Other noninflammatory disorders of vagina 4.183e-06 0.365 0.079 PIK3CD rs142285826 1:9715914:T:A 1 9715914 T A 1:9775972 0.992125 2964 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 14 Other noninflammatory disorders of vagina 0.00122 0.8559 0.2647 Pleural plaque 0.0003798 13.436 3.781 PIK3CD rs61755420 1:9717541:C:G 1 9717541 C G 1:9777599 0.953122 10017 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immunodeficiency 14;not specified Diseases of external ear 0.000299 0.2641 0.073 Malignant neoplasm of testis 8.684e-05 10.975 2.796 PIK3CD rs28730674 1:9720138:A:G 1 9720138 A G 1:9780196 0.99946 5887 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 14 Atrial fibrillation and flutter with reimbursement 0.000207 -0.3026 0.0816 Kela-code for behavioural disturbances in mental retardation 0.001186 9.384 2.894 PIK3CD rs142907633 1:9724812:G:A 1 9724812 G A 1:9784870 0.940693 181 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vertigo of central origin 0.000302 14.7234 4.0748 CLSTN1 rs1129358 1:9773277:A:T 1 9773277 A T 1:9833335 0.999009 6504 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other or ill-defined heart diseases 0.000339 0.8155 0.2276 Kela-code for behavioural disturbances in mental retardation 0.001459 8.603 2.703 NMNAT1 rs202057799 1:9982354:G:A 1 9982354 G A 1:10042412 0.988388 1017 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of breast 0.00112 0.5928 0.1819 KIF1B rs373698346 1:10275444:A:G 1 10275444 A G 1:10335502 0.924798 145 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Trigeminal neuralgia 0.000497 7.3096 2.099 KIF1B rs41274458 1:10303606:G:T 1 10303606 G T 1:10363664 0.999399 0.036618 526 12927 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Mental and behavioural disorders due to psychoctive substance use 2.93e-06 0.1958 0.0419 Unstable angina pectoris 0.001427 0.689 0.216 KIF1B rs148481786 1:10304202:A:G 1 10304202 A G 1:10364260 0.991558 4072 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Amyloidosis 0.000464 2.0315 0.5803 Disorders of breast 9.74e-05 2.656 0.682 KIF1B rs149267056 1:10304277:T:C 1 10304277 T C 1:10364335 0.987355 0.00288795 4 1057 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Psoriasis 5.64e-05 1.0243 0.2543 Other and unspecified visual disturbances 0.001077 76.967 23.54 KIF1B rs117525287 1:10321829:A:G 1 10321829 A G 1:10381887 0.995745 4306 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma Peptic ulcer 0.000646 2.5715 0.7538 Viral hepatitis 0.001073 9.842 3.009 KIF1B rs2297881 1:10337509:A:G 1 10337509 A G 1:10397567 0.999581 0.0434854 700 15276 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma ILD, hospital admission 2, with pulmonary infections 7.97e-05 0.498 0.1262 Respiratory conditions due to other external agents 0.0008409 5.217 1.562 KIF1B rs200561798 1:10361732:T:C 1 10361732 T C 1:10421790 0.979432 0.00103977 4 378 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Persons encountering health services in circumstances related to reproduction 1.61e-05 -0.7101 0.1646 Cholelithiasis, broad definition with cholecystitis 0 3.776 0 KIF1B rs77172218 1:10368512:G:A 1 10368512 G A 1:10428570 0.986675 5013 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;Neuroblastoma;Pheochromocytoma;not specified Carcinoma in situ of skin of trunk 0.000216 2.1652 0.5853 Specific development disorders of speech and language 0.0004508 14.978 4.269 DFFA rs137950953 1:10461600:G:A 1 10461600 G A 1:10521657 0.990414 358 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Volvulus 0.000516 7.7288 2.2259 CASZ1 rs61736951 1:10660197:G:A 1 10660197 G A 1:10720254 0.93973 0.00597733 16 2180 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified glaucoma 4.63e-05 2.0284 0.4979 Problems related to negative life events in childhood 0.001262 111.229 34.495 CASZ1 rs138985539 1:10660248:A:G 1 10660248 A G 1:10720305 0.962831 0.00220475 0 810 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spontaneous rupture of synovium and tendon 9.43e-05 2.3014 0.5894 CASZ1 rs149479567 1:10665412:G:A 1 10665412 G A 1:10725469 0.955315 2860 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of hip and thigh 0.000194 2.0141 0.5405 Mental and behavioural disorders due to sedatives or hypnotics 0.0005958 13.048 3.8 MASP2 rs143981111 1:11030828:G:A 1 11030828 G A 1:11090885 0.965014 299 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pleural effusion 0.000606 2.5884 0.7548 MASP2 rs2273346 1:11030840:A:G 1 11030840 A G 1:11090897 0.997033 3998 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter MASP2 deficiency Gonarthrosis,primary 0.000272 0.2295 0.063 Cervicocranial syndrome 0.0008495 10.583 3.172 MASP2 rs12711521 1:11030859:C:A 1 11030859 C A 1:11090916 0.998823 54797 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services for specific procedures and health care 0.000303 0.0518 0.0143 Persons encountering health services for specific procedures and health care 0.000488 0.029 0.008 MASP2 rs139962539 1:11042883:G:A 1 11042883 G A 1:11102940 0.975994 7389 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pericarditis 0.000847 0.9169 0.2748 Other bacterial diseases 0.0005553 0.64 0.185 MASP2 rs41307788 1:11045485:C:T 1 11045485 C T 1:11105542 0.886519 1393 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter MASP2 deficiency;not specified Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.000411 -0.7187 0.2034 6.451e-05 8.794 2.201 MASP2 rs72550870 1:11046609:T:C 1 11046609 T C 1:11106666 0.97603 15957 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl MASP2 deficiency;not specified Chronic pancreatitis 0.000283 0.3544 0.0976 Other specified and unspecified personality disorders 0.0006618 1.134 0.333 UBIAD1 rs114000606 1:11273755:C:T 1 11273755 C T 1:11333812 0.950442 739 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schnyder crystalline corneal dystrophy Universal eryhrodermia, KELA reimbursement 0.000456 7.843 2.2374 Chronic conjunctivitis 0.0004369 167.438 47.612 UBIAD1 rs140612649 1:11273829:T:G 1 11273829 T G 1:11333886 0.938744 0.000860126 0 316 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Respiratory insufficiency 4.98e-05 6.5046 1.6035 DISP3 rs41274532 1:11516037:G:A 1 11516037 G A 1:11576094 0.99282 761 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified enthesopathies of lower limb, excluding foot 0.00142 1.9832 0.6217 Benign neoplasm: Anus and anal canal 0.001082 79.272 24.254 MAD2L2 rs2233015 1:11680478:G:T 1 11680478 G T 1:11740535 0.943601 0.00221836 4 811 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of bladder 8.61e-05 2.0307 0.5171 0.000261 2.995 0.82 C1orf167 rs3737967 1:11787392:G:A 1 11787392 G A 1:11847449 0.998144 7671 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neural tube defects, folate-sensitive Other complications of surgical and medical care, not elsewhere classified 0.000351 0.6479 0.1813 Other, unspecified and serous retinal detachments 0.0001982 8.484 2.28 C1orf167 rs1537514 1:11788011:G:C 1 11788011 G C 1:11848068 0.998178 0.114791 4782 37391 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension 8.51e-15 -0.1212 0.0156 Injury of muscle and tendon at hip and thigh level 0.0006649 0.575 0.169 C1orf167 rs371188005 1:11788023:G:A 1 11788023 G A 1:11848080 0.936659 929 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Neural tube defects, folate-sensitive Carcinoma in situ of skin of trunk 0.000657 5.3133 1.5596 Hallux valgus (acquired) 3.51e-05 14.455 3.494 C1orf167 rs566663800 1:11788183:C:T 1 11788183 C T 1:11848240 0.881264 603 pLoF unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Neural tube defects, folate-sensitive Substance abuse (more controls excluded) 0.00129 -0.7268 0.2258 Benign neoplasm: Ascending colon 5.6e-05 175.135 43.468 MTHFR rs35737219 1:11790693:G:A 1 11790693 G A 1:11850750 0.984125 4194 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Homocysteinemia due to MTHFR deficiency;not provided;not specified Dystonia 0.000174 1.1319 0.3015 Disorders of conjunctiva 1e-04 1.584 0.407 MTHFR rs2274976 1:11790870:C:T 1 11790870 C T 1:11850927 0.998303 7673 missense_variant both Benign/Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neural tube defects, folate-sensitive;not provided;not specified Other complications of surgical and medical care, not elsewhere classified 0.000351 0.648 0.1813 Other, unspecified and serous retinal detachments 0.0001982 8.484 2.28 MTHFR rs142617551 1:11794028:T:A 1 11794028 T A 1:11854085 0.936355 1732 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Neural tube defects, folate-sensitive Asthma 0.00103 0.3082 0.0939 Other disorders of binocular movement 0.0004434 163.155 46.446 MTHFR rs139645527 1:11794029:C:G 1 11794029 C G 1:11854086 0.936597 1739 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Asthma 0.000914 0.3108 0.0937 Other disorders of binocular movement 0.0004434 163.155 46.446 MTHFR rs1801131 1:11794419:T:G 1 11794419 T G 1:11854476 0.999031 0.31565 36428 79538 missense_variant both Conflicting interpretations of pathogenicity, other VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertension 9.22e-06 -0.0475 0.0107 Other special examinations and investigations of persons without complaint or reported diagnosis 0.0003487 -0.036 0.01 MTHFR rs1801133 1:11796321:G:A 1 11796321 G A 1:11856378 0.998228 66201 missense_variant both drug response drug response reviewed by expert panel Criteria_multSubmitter Other acquired deformities of musculoskeletal system and connective tissue 0.000186 0.2725 0.0729 Benign neoplasm: Skin of other and unspecified parts of face (other cancers excluded from controls) 0.0003193 0.221 0.061 CLCN6 rs150830522 1:11834535:G:A 1 11834535 G A 1:11894592 0.993003 520 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of cerebrovascular disease 0.000569 1.3787 0.4001 NPPA rs5065 1:11846011:A:G 1 11846011 A G 1:11906068 0.99687 27715 stop_lost both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other puerperal infections 0.000554 0.3673 0.1064 Testicular hypofunction 0.0005322 1.957 0.565 NPPA rs61757261 1:11847373:T:G 1 11847373 T G 1:11907430 0.894977 379 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Other deformities of toe(s) 0.000942 4.562 1.3793 NPPB rs35640285 1:11858322:C:A 1 11858322 C A 1:11918379 0.990525 4020 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fitting and adjustment of other devices 0.000171 0.5201 0.1384 0.0002818 -1.527 0.42 NPPB rs61761991 1:11858387:C:T 1 11858387 C T 1:11918444 0.991825 10798 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of uterus 0.000849 -0.3405 0.102 Haemorrhage from respiratory passages 0.0005513 1.169 0.338 PLOD1 rs34878020 1:11949854:G:A 1 11949854 G A 1:12009911 0.992802 0.0060971 28 2212 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, hydroxylysine-deficient;not provided;not specified Acne vulgaris 2.8e-05 1.5697 0.3747 Bronchitis, not specified as acute or chronic 0.001165 9.412 2.898 PLOD1 rs7551175 1:11949899:G:A 1 11949899 G A 1:12009956 0.997876 40202 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm 0.000179 -0.0538 0.0143 Spermatocele 0.001042 0.49 0.149 PLOD1 rs2273285 1:11950412:G:T 1 11950412 G T 1:12010469 0.997718 14950 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, hydroxylysine-deficient;not provided;not specified Panniculitis affecting regions of neck and back 0.000204 0.5999 0.1615 Pterygium 0.0007894 3.33 0.992 PLOD1 rs188165334 1:11952691:G:T 1 11952691 G T 1:12012748 0.975873 1929 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, hydroxylysine-deficient Isolated proteinuria with specified morphological lesion 0.000137 2.7007 0.7083 Other and unspecified polyneuropathies, also in other diseases 0.00158 8.051 2.548 PLOD1 rs142978362 1:11952711:G:T 1 11952711 G T 1:12012768 0.984459 456 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.000655 0.6657 0.1954 PLOD1 rs138490756 1:11965543:C:T 1 11965543 C T 1:12025600 0.997922 1313 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, hydroxylysine-deficient;not provided;not specified Wegener granulomatosis 0.000235 4.2123 1.1453 Hydatidiform mole 0.001444 61.193 19.208 MFN2 rs41278630 1:12001476:G:A 1 12001476 G A 1:12061533 0.985359 346 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other or ill-defined heart diseases 0.00102 4.51 1.3734 MFN2 rs138382758 1:12004835:G:A 1 12004835 G A 1:12064892 0.991197 1966 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2A2A;Hereditary motor and sensory neuropathy;not provided;not specified Intracranial trauma 0.000489 -0.3535 0.1014 Other peripheral vertigo 6.571e-06 21.317 4.73 MFN2 rs142271930 1:12009635:G:A 1 12009635 G A 1:12069692 0.996609 13589 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;not provided;not specified Dependence on enabling machines and devices, not elsewhere classified 0.000884 1.2446 0.3743 Failed attempted abortion 0.0003626 6.915 1.939 VPS13D rs79282181 1:12277831:G:A 1 12277831 G A 1:12337888 0.950795 1240 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Presence of cardiac and vascular implants and grafts 0.000406 0.6326 0.1789 Charcot foot 0.0007355 97.353 28.837 VPS13D rs41279452 1:12282933:G:A 1 12282933 G A 1:12342990 0.970197 2974 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck 0.000198 1.182 0.3176 Congenital malformations of eye, ear, face and neck 0.0005223 13.767 3.968 VPS13D rs150598243 1:12318217:C:T 1 12318217 C T 1:12378274 0.989947 1468 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other disorders of cornea 0.00103 1.3208 0.4023 0.0001407 17.887 4.699 PDPN rs113350533 1:13583851:C:T 1 13583851 C T 1:13910346 0.916404 879 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute posthaemorrhagic anaemia 0.000517 3.3484 0.9645 Alzheimer's disease (Late onset) (more controls excluded) 1.921e-05 6.191 1.448 PRDM2 rs41269807 1:13780865:T:A 1 13780865 T A 1:14107360 0.98458 0.0286264 344 10173 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Dementia in Alzheimer disease 3.36e-05 0.4762 0.1148 0.0003764 -0.353 0.099 CTRC rs41307798 1:15442501:C:T 1 15442501 C T 1:15768997 0.97554 5339 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary pancreatitis;not provided;not specified Any mental disorder, or suicide (or attempt), or psychic disorders complicating pregnancy, partum or puerperum or nerve system disorders 0.00112 -0.126 0.0387 Toxic effect of contact with venomous animals 0.0008852 11.248 3.383 CTRC rs201486613 1:15445631:A:C 1 15445631 A C 1:15772126 0.987535 209 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Postpartum care and examination 0.000712 2.4787 0.7323 CTRC rs200412314 1:15445693:C:T 1 15445693 C T 1:15772188 0.982389 591 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory disease of cervix uteri 0.000787 2.483 0.7396 CTRC rs121909293 1:15445717:C:T 1 15445717 C T 1:15772212 0.996252 0.0213099 210 7619 missense_variant dominant Conflicting interpretations of pathogenicity, risk factor risk factor criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary pancreatitis;Pancreatitis, chronic, susceptibility to;not provided Acute pancreatitis 3.27e-07 0.5599 0.1096 Other diseases of pancreas 5.211e-06 7.528 1.652 PLEKHM2 rs61738982 1:15725495:G:C 1 15725495 G C 1:16051990 0.977748 1535 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dilated Cardiomyopathy, Recessive Convalescence 0.000258 1.8462 0.5053 Anomalies of pupillary function 0.0008356 96.888 29.002 PLEKHM2 rs200354338 1:15727237:T:G 1 15727237 T G 1:16053732 0.972784 317 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of head 0.00049 5.5088 1.5802 CLCNKA rs202069201 1:16022674:C:T 1 16022674 C T 1:16349169 0.903062 125 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cervical root disorders 0.000315 36.9173 10.2472 CLCNKA rs10927887 1:16024780:A:G 1 16024780 A G 1:16351275 0.996757 90664 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Papilloedema, unspecified 0.000338 0.3855 0.1075 Nonischemic cardiomyopathy 8.707e-05 0.174 0.044 CLCNKB rs2015352 1:16044572:G:T 1 16044572 G T 1:16371067 0.982948 90401 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intestinal infectious diseases 0.000229 -0.0427 0.0116 Open wound of wrist and hand 0.0004505 -0.053 0.015 CLCNKB rs1889789 1:16048568:C:G 1 16048568 C G 1:16375063 0.98292 27039 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Third [oculomotor] nerve palsy 0.000913 -0.6917 0.2086 Benign neoplasm: Liver 0.001519 -0.334 0.105 CLCNKB rs11588392 1:16049015:G:A 1 16049015 G A 1:16375510 0.989287 24055 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Type 2 diabetes with ketoacidosis 0.000858 0.5733 0.172 Medical abortion 0.0002912 0.311 0.086 CLCNKB rs7367494 1:16049696:C:T 1 16049696 C T 1:16376191 0.98748 25395 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other acute lower respiratory infections 0.000972 -0.1044 0.0317 Other acute lower respiratory infections 0.001358 -0.054 0.017 CLCNKB rs6650119 1:16051505:A:G 1 16051505 A G 1:16378000 0.982643 40518 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dronedarone medication 0.000816 0.3895 0.1163 Persons encountering health services in other circumstances 0.003296 0.093 0.032 CLCNKB rs35351345 1:16051552:G:T 1 16051552 G T 1:16378047 0.976148 1066 LC recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myeloproliferative diseases (CML excluded) 0.000469 2.318 0.6626 Complications of cardiac and vascular prosthetic devices, implants and grafts 0.000461 149.133 42.58 CLCNKB rs12140311 1:16052230:A:T 1 16052230 A T 1:16378725 0.982003 40508 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dronedarone medication 0.000804 0.3901 0.1164 Persons encountering health services in other circumstances 0.003056 0.094 0.032 CLCNKB rs5253 1:16053701:T:C 1 16053701 T C 1:16380196 0.984782 0.940349 324948 20525 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unstable angina pectoris 1.57e-05 -0.2027 0.0469 Unstable angina pectoris 1.733e-05 -0.106 0.025 CLCNKB rs143663847 1:16055706:G:A 1 16055706 G A 1:16382201 0.959808 2684 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other and unspecified disorders involving the immune mechanism, not elsewhere classified 0.00146 1.8194 0.5718 Other diseases of appendix 0.002977 33.704 11.348 CLCNKB rs376998876 1:16055708:C:A 1 16055708 C A 1:16382203 0.951188 230 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Recurrent and persistent haematuria 0.000575 12.2056 3.5449 EPHA2 rs35903225 1:16130268:C:T 1 16130268 C T 1:16456763 0.987275 0.0105284 66 3802 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Age-related cortical cataract;Cataract 6, multiple types;not specified Other specified/unspecified necrotizing vasculopathies 3.04e-06 3.5295 0.756 Vitamin B12 deficiency anaemia 0.0005657 4.924 1.428 EPHA2 rs34192549 1:16137994:C:T 1 16137994 C T 1:16464489 0.992282 3764 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Age-related cortical cataract;Cataract 6, multiple types;Squamous cell lung carcinoma;not specified Injury of muscle and tendon at lower leg level 0.00267 0.5182 0.1726 Urethral stricture 0.000545 13.577 3.927 EPHA2 rs11543934 1:16138117:G:T 1 16138117 G T 1:16464612 0.959854 5477 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Age-related cortical cataract Need for immunization against other single viral diseases 0.000116 1.6018 0.4155 0.0003468 -0.51 0.143 EPHA2 rs35484156 1:16138424:G:A 1 16138424 G A 1:16464919 0.981408 0.00270831 4 991 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Age-related cortical cataract Other and unspecified vascular occlusions 9.5e-05 1.9543 0.5007 Persons encountering health services for other counselling and medical advice, not elsewhere classified 1.109e-06 4.187 0.86 EPHA2 rs147352564 1:16148678:G:A 1 16148678 G A 1:16475173 0.95334 197 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter KELA_REIMBURSEMENT_202 0.000574 1.3361 0.388 ARHGEF19 rs61749279 1:16204768:C:T 1 16204768 C T 1:16531263 0.996821 3238 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumothorax 0.000395 1.1914 0.3362 Generalized epilepsy, strict edfinition 0.001975 7.678 2.481 CROCC rs137905506 1:16930289:A:G 1 16930289 A G 1:17256784 0.927835 827 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of arteries and capillaries 0.000164 2.1264 0.5641 CROCC rs147139590 1:16945494:G:A 1 16945494 G A 1:17271989 0.96646 0.0429818 280 15511 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other articular cartilage disorders 4.34e-05 0.8502 0.2079 Mental retardation 0.001489 2.698 0.849 CROCC rs142404824 1:16945542:G:A 1 16945542 G A 1:17272037 0.966416 0.0429845 280 15512 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other articular cartilage disorders 4.33e-05 0.8503 0.208 Mental retardation 0.00149 2.697 0.849 CROCC rs139131241 1:16965852:G:A 1 16965852 G A 1:17292347 0.960399 1027 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinal instabilities 0.000491 2.9925 0.8585 Abnormal findings on examination of blood, without diagnosis 0.0007313 8.626 2.554 CROCC rs147926226 1:16970705:C:T 1 16970705 C T 1:17297200 0.924457 417 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lichen sclerosus et atrophicus 0.000179 3.7458 0.9997 ATP13A2 rs189334432 1:16986091:G:A 1 16986091 G A 1:17312586 0.926172 410 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Trochanteric bursitis 0.00058 2.5935 0.7538 Diabetes, varying definitions 0 2.552 0 ATP13A2 rs15786 1:16986097:G:A 1 16986097 G A 1:17312592 0.993456 30858 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parkinson disease 9 Other ill-defined and unspecified causes of mortality 0.00121 0.5099 0.1576 Amyloidosis, other/unspecified 8.452e-05 2.346 0.597 ATP13A2 rs3170740 1:16986248:C:T 1 16986248 C T 1:17312743 0.998782 0.498337 91454 91629 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins 1.51e-07 0.076 0.0145 Varicose veins 2.478e-05 0.05 0.012 ATP13A2 rs752487771 1:16990135:C:T 1 16990135 C T 1:17316630 0.969291 201 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations of circulatory system 0.00077 10.7726 3.203 ATP13A2 rs149372969 1:16996298:G:C 1 16996298 G C 1:17322793 0.991005 0.00128202 0 471 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified nerve root and plexus disorders, also in other diseases 6.37e-05 2.3507 0.5879 ATP13A2 rs56367069 1:17000272:C:T 1 17000272 C T 1:17326767 0.975853 3983 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Parkinson disease 9;Spastic paraplegia 78, autosomal recessive;not provided;not specified Prurigo nodularis 0.000474 1.7904 0.5123 Kela-cod for severe mental illness 0.0005207 -2.828 0.815 ATP13A2 rs145515028 1:17000494:G:A 1 17000494 G A 1:17326989 0.951199 65 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Torticollis 0.000346 34.8513 9.7395 SDHB rs33927012 1:17027802:A:G 1 17027802 A G 1:17354297 0.999379 7909 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cowden syndrome;Gastrointestinal stroma tumor;Hereditary cancer-predisposing syndrome;Paragangliomas 4;Paragangliomas 4;Pheochromocytoma;Pheochromocytoma;not provided;not specified Problems related to certain psychosocial circumstances 0.00028 0.5269 0.145 0.000334 4.034 1.125 PADI2 rs142403504 1:17083758:G:A 1 17083758 G A 1:17410253 0.9948 790 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of the musculoskeletal system, not elsewhere classified 0.000113 7.9318 2.0548 Occupational exposure to risk-factors 0.001365 63.25 19.753 PADI2 rs61749340 1:17086657:C:T 1 17086657 C T 1:17413152 0.992097 3556 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perichondritis of external ear 0.00102 2.1282 0.6476 Soft tissue disorders related to use, overuse and pressure 0.0005547 3.446 0.998 PADI1 rs150923523 1:17226078:A:G 1 17226078 A G 1:17552573 0.909279 704 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Substance abuse (more controls excluded) 0.00107 0.6943 0.2123 PADI3 rs142129409 1:17262194:T:A 1 17262194 T A 1:17588689 0.979794 1472 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Uncombable hair syndrome Problems related to medical facilities and other health care 0.000291 2.0449 0.5644 Macular hole 0.00104 79.738 24.314 PADI3 rs144080386 1:17270928:C:T 1 17270928 C T 1:17597423 0.970848 2506 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Uncombable hair syndrome Age-related macular degeneration (whether dry or wet) 0.000793 0.6167 0.1838 Other reactioin to severe stress, and adjustment disorders 0.003102 2.968 1.004 PADI4 rs33981382 1:17342393:A:G 1 17342393 A G 1:17668888 0.986139 0.00741723 22 2703 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of heart and great arteries 9.36e-05 0.9217 0.2359 Other congenital malformations of face and neck 0.0002531 34.729 9.491 ALDH4A1 rs61757683 1:18872954:G:T 1 18872954 G T 1:19199448 0.984029 0.0360028 490 12737 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of pyrroline-5-carboxylate reductase Colectomy operation 4.27e-07 0.5378 0.1063 Other disorders of choroid 0.0002799 7.519 2.07 ALDH4A1 rs6695033 1:18875425:T:C 1 18875425 T C 1:19201919 0.992406 9143 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deficiency of pyrroline-5-carboxylate reductase;Hyperprolinemia Premature separation of placenta [abruptio placentae] 0.00066 1.0149 0.298 Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 0.001474 2.053 0.646 ALDH4A1 rs2230709 1:18875434:C:T 1 18875434 C T 1:19201928 0.992507 63644 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of male genital organs 0.000254 0.3302 0.0903 Endometriosis of intestine 0.0008801 0.8 0.24 ALDH4A1 rs149414160 1:18876392:A:G 1 18876392 A G 1:19202886 0.986382 704 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Puerperal sepsis 0.000633 2.9149 0.8531 ALDH4A1 rs41273175 1:18877231:A:G 1 18877231 A G 1:19203725 0.984998 8185 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Deficiency of pyrroline-5-carboxylate reductase;Hyperprolinemia Premature separation of placenta [abruptio placentae] 0.000494 1.1305 0.3245 Other coagulation defects 0.002007 3.843 1.244 ALDH4A1 rs146450609 1:18902477:G:A 1 18902477 G A 1:19228971 0.99362 10934 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of pyrroline-5-carboxylate reductase Chronic Coagulation defects 0.000641 0.9684 0.2837 0.0006923 1.988 0.586 UBR4 rs35444108 1:19177568:T:C 1 19177568 T C 1:19504062 0.998772 1448 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Continuous positive airway pressure 0.000206 0.9377 0.2526 1.157e-06 3.022 0.621 PLA2G2A rs11573162 1:19978510:G:A 1 19978510 G A 1:20305003 0.984133 15473 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Palindromic rheumatism 0.000738 1.2272 0.3636 Inflammatory disease of uterus 0.0001172 1.264 0.328 PINK1 rs148871409 1:20633892:A:T 1 20633892 A T 1:20960385 0.986759 17273 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson Disease, Recessive;Parkinson disease 6, autosomal recessive early-onset;not provided Alzheimer's disease (Early onset) 0.00143 0.4756 0.1492 Abnormal results of function studies 0.0002879 1.704 0.47 PINK1 rs139226733 1:20644665:A:T 1 20644665 A T 1:20971158 0.986867 827 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Palmar fascial fibromatosis [Dupuytren] 0.000331 1.3126 0.3657 PINK1 rs3738136 1:20645618:G:A 1 20645618 G A 1:20972111 0.997383 29231 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson Disease, Recessive Type 2 diabetes, definitions combined 0.000245 0.0765 0.0208 Hepatic failure, not elsewhere classified 0.0007348 1.251 0.37 PINK1 rs45478900 1:20648612:G:A 1 20648612 G A 1:20975105 0.986053 3269 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified urinary incontinence 0.000255 0.9382 0.2565 Pleural effusion 3.847e-05 13.64 3.313 PINK1 rs1043424 1:20650507:A:C 1 20650507 A C 1:20977000 0.999885 84205 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes, definitions combined 0.000535 0.0425 0.0123 Purpura and other haemorrhagic conditions 0.0001243 -0.158 0.041 DDOST rs138061134 1:20654241:G:A 1 20654241 G A 1:20980734 0.991162 0.0134681 90 4858 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;Congenital disorder of glycosylation type Ir Eosinophilic disease (BM) 5.37e-05 2.6131 0.647 Unspecified fall 0.0001007 31.112 8 DDOST rs111334879 1:20655483:C:T 1 20655483 C T 1:20981976 0.98022 241 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation;not provided Gluteal tendinitis 0.000138 10.8632 2.8494 Benign neoplasm: Anus and anal canal 0.0002541 279.228 76.332 ECE1 rs200894751 1:21225411:G:A 1 21225411 G A 1:21551904 0.980708 721 missense_variant dominant Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Mental retardation 0.00117 2.5845 0.7959 ECE1 rs141146885 1:21238138:C:T 1 21238138 C T 1:21564631 0.977156 288 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 0.00159 2.2004 0.6969 ECE1 rs1076669 1:21247362:G:A 1 21247362 G A 1:21573855 0.999421 0.0794909 2380 26824 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Soft tissue disorders related to use, overuse and pressure 7.78e-06 0.215 0.0481 Disorders of brain, other and unspecified 0.0003681 2.956 0.83 ALPL rs149344982 1:21563267:G:A 1 21563267 G A 1:21889760 0.991518 0.00746078 36 2705 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypophosphatasia;not provided;not specified Dermatopolymyositis (FG) 5.54e-05 3.5125 0.8712 Other diseases of intestine 0.0005037 14.491 4.166 ALPL rs121918007 1:21564139:G:A 1 21564139 G A 1:21890632 0.999758 0.0161219 82 5841 missense_variant both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adult hypophosphatasia;Adult hypophosphatasia;Childhood hypophosphatasia;Childhood hypophosphatasia;Hypophosphatasia;Infantile hypophosphatasia;Infantile hypophosphatasia;not provided Urolithiasis 2.95e-06 -0.4384 0.0938 Vascular dementia (multiple infarctations) 0.0001523 23.267 6.143 ALPL rs3200254 1:21568242:T:C 1 21568242 T C 1:21894735 0.999509 51498 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified and unspecified retinal disorders 0.000152 -0.424 0.1119 Other congenital malformations of tongue, mouth and pharynx 0.0007813 1.011 0.301 ALPL rs34605986 1:21577638:T:C 1 21577638 T C 1:21904131 0.987911 0.063848 1582 21875 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypophosphatasia;not provided;not specified Obstructive hydrocephalus 4.44e-05 1.1501 0.2817 Obstructive hydrocephalus 0.0007559 3.38 1.004 HSPG2 rs145687082 1:21823474:C:T 1 21823474 C T 1:22149967 0.971183 0.00212037 2 777 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Persons encountering health services in circumstances related to reproduction 4.04e-05 0.4694 0.1143 HSPG2 rs1138469 1:21823625:C:T 1 21823625 C T 1:22150118 0.992238 22540 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not provided Alergic contact dermatitis 0.000128 -0.2723 0.0711 Elevated blood glucose level 0.0001475 1.322 0.348 HSPG2 rs3736360 1:21823627:C:T 1 21823627 C T 1:22150120 0.998785 66488 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Excessive, freguent and irrelgular menstruation 0.000134 0.0639 0.0167 0.0008127 0.194 0.058 HSPG2 rs141280063 1:21824146:C:T 1 21824146 C T 1:22150639 0.993328 3419 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Mental retardation 0.000184 1.3579 0.363 Cardiomyopathy, other and unspecified 0.0005453 12.698 3.673 HSPG2 rs140139732 1:21828852:G:A 1 21828852 G A 1:22155345 0.985937 0.0233731 218 8369 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Female infertility 5.63e-05 -0.283 0.0703 Toxic liver disease 0.0007656 12.279 3.649 HSPG2 rs74859884 1:21828860:G:A 1 21828860 G A 1:22155353 0.985705 23179 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1 Other disorders of skin and subcutaneous tissue 0.000298 0.1145 0.0317 Pain and other conditions associated with female genital organs and menstrual cycle 0.0009209 0.542 0.164 HSPG2 rs147707402 1:21833345:A:G 1 21833345 A G 1:22159838 0.844748 62 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Mixed hyperlipidaemia 0.00106 14.3411 4.3792 HSPG2 rs112062179 1:21833508:C:T 1 21833508 C T 1:22160001 0.992522 1631 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not provided;not specified Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.000166 0.511 0.1357 Disorders of lacrimal system and orbit in diseases classified elsewhere 0.0006134 129.651 37.848 HSPG2 rs17459097 1:21833527:C:T 1 21833527 C T 1:22160020 0.990985 30592 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Female infertility 0.000706 -0.1245 0.0368 Burn and corrosion of shoulder and upper limb, except wrist and hand 3.764e-05 2.093 0.508 HSPG2 rs2229493 1:21833550:C:T 1 21833550 C T 1:22160043 0.996589 21510 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1 Chronic lower respiratory diseases 0.00063 0.074 0.0216 conjunctival haemorrhage 0.0001149 1.548 0.401 HSPG2 rs143543800 1:21834901:C:T 1 21834901 C T 1:22161394 0.842286 0.000389234 0 143 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of ear 1.3e-05 1.5162 0.3478 HSPG2 rs141464124 1:21836943:G:A 1 21836943 G A 1:22163436 0.941905 162 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pterygium 0.000629 11.4084 3.3371 HSPG2 rs141963344 1:21838865:C:T 1 21838865 C T 1:22165358 0.980643 4011 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cholangitis (primary sclerosing, PSC) 0.000487 1.0803 0.3098 Keratoconus 4.702e-05 42.966 10.557 HSPG2 rs139500146 1:21839470:T:C 1 21839470 T C 1:22165963 0.994795 0.0345738 490 12212 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not specified Other and unspecified injuries of ankle and foot 7.89e-06 1.022 0.2287 Benign neoplasm: Connective and other soft tissue of head, face and neck (other cancers excluded from controls) 0.00117 4.636 1.428 HSPG2 rs2291827 1:21839494:G:A 1 21839494 G A 1:22165987 0.996423 61889 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteomyelitis 0.000148 0.261 0.0688 0.0004313 0.226 0.064 HSPG2 rs2228349 1:21841112:C:T 1 21841112 C T 1:22167605 0.99774 21501 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1 Chronic lower respiratory diseases 0.000612 0.0741 0.0216 conjunctival haemorrhage 0.0001149 1.548 0.401 HSPG2 rs187525491 1:21841632:C:T 1 21841632 C T 1:22168125 0.864669 134 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Purpura and other haemorrhagic conditions 0.000122 5.7 1.4833 HSPG2 rs2229491 1:21842308:T:C 1 21842308 T C 1:22168801 0.998249 21501 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not provided Chronic lower respiratory diseases 0.000651 0.0737 0.0216 conjunctival haemorrhage 0.0001162 1.545 0.401 HSPG2 rs2229489 1:21842352:A:T 1 21842352 A T 1:22168845 0.999113 16584 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not provided Simple and mucoplurulent chronic bronchitis 0.000357 0.5915 0.1657 conjunctival haemorrhage 4.405e-05 2.367 0.579 HSPG2 rs114851469 1:21842362:G:A 1 21842362 G A 1:22168855 0.980717 6287 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Acute appendicitis, with complications 0.00092 0.3364 0.1015 Congenital malformations of uterus and cervix 0.0002375 20.599 5.605 HSPG2 rs41266007 1:21842832:C:T 1 21842832 C T 1:22169325 0.989647 4163 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not provided Benign neoplasm: Other/unspecified site (other cancers excluded from controls) 0.000221 2.3082 0.6249 Other prurigo 0.001938 49.558 15.988 HSPG2 rs147114700 1:21844219:C:A 1 21844219 C A 1:22170712 0.978774 849 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not specified Myopia 0.000819 1.5662 0.468 Benign neoplasm: Adrenal gland 0.000322 245.722 68.314 HSPG2 rs142458572 1:21847474:G:A 1 21847474 G A 1:22173967 0.99605 777 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not specified Extrapyramidal and movement disorders 0.000161 1.0543 0.2794 Complications following infusion, transfusion and therapeutic injection 0.0002097 332.473 89.688 HSPG2 rs142226974 1:21847988:C:T 1 21847988 C T 1:22174481 0.912359 210 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other/unspecified soft tissue disorders related to use, overuse and pressure 0.000224 9.5509 2.5885 HSPG2 rs35669711 1:21852751:C:T 1 21852751 C T 1:22179244 0.997841 16566 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1 Simple and mucoplurulent chronic bronchitis 0.000337 0.5951 0.166 conjunctival haemorrhage 4.244e-05 2.383 0.582 HSPG2 rs116788687 1:21854867:G:C 1 21854867 G C 1:22181360 0.981647 20351 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not provided Other and unspecified injuries of ankle and foot 0.000366 0.5935 0.1665 Other joint disorders 0.0001139 -0.212 0.055 HSPG2 rs2229475 1:21855402:C:T 1 21855402 C T 1:22181895 0.993453 16469 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1 Simple and mucoplurulent chronic bronchitis 0.000291 0.6043 0.1668 conjunctival haemorrhage 4.934e-05 2.325 0.573 HSPG2 rs2229474 1:21855622:G:A 1 21855622 G A 1:22182115 0.992334 4577 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not provided;not specified Hypertensive Heart Disease 0.000111 -0.475 0.1229 conjunctival haemorrhage 0.001783 8.096 2.591 HSPG2 rs140954748 1:21855840:G:A 1 21855840 G A 1:22182333 0.96843 160 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of rectum 0.000518 5.3686 1.5465 HSPG2 rs200506675 1:21859653:C:T 1 21859653 C T 1:22186146 0.901544 622 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Asthma/COPD (KELA code 203) 0.00044 0.5816 0.1655 HSPG2 rs142736845 1:21864868:G:C 1 21864868 G C 1:22191361 0.981106 391 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Extreme obesity with alveolar hypoventilation 0.00184 5.2028 1.6699 HSPG2 rs897471 1:21864961:G:A 1 21864961 G A 1:22191454 0.98199 71287 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteoporosis with pathological fracture (FG) 0.001 0.2256 0.0686 Acute appendicitis, no complications 0.001041 -0.035 0.011 HSPG2 rs138460117 1:21864980:A:T 1 21864980 A T 1:22191473 0.9844 3253 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1 Chondrocostal junction syndrome [Tietze] 0.000894 1.6466 0.4957 Hydrocele 1.131e-05 15.826 3.605 HSPG2 rs28546127 1:21873980:C:T 1 21873980 C T 1:22200473 0.990807 11900 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1 Antenatal screening 0.0012 -0.128 0.0395 Cervical disc disorders 0.0005539 0.748 0.217 HSPG2 rs2229481 1:21874505:C:T 1 21874505 C T 1:22200998 0.991167 11890 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1 Antenatal screening 0.00188 -0.1229 0.0395 0.0005291 0.382 0.11 HSPG2 rs78889849 1:21875662:C:T 1 21875662 C T 1:22202155 0.987342 2536 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not specified Other disorders of bone density and structure 0.000107 2.3759 0.6132 !!!Vapaa-ajan tapaturmat 0.000507 153.382 44.113 HSPG2 rs62642528 1:21875990:G:A 1 21875990 G A 1:22202483 0.992489 995 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Impetigo 0.00105 2.6526 0.8092 0.002041 108.76 35.264 HSPG2 rs137904249 1:21876613:C:T 1 21876613 C T 1:22203106 0.94143 94 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rosacea 0.000558 7.3267 2.1229 HSPG2 rs143736974 1:21879108:T:C 1 21879108 T C 1:22205601 0.990144 6483 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Schwartz Jampel syndrome type 1 Type 2 diabetes with coma 0.00144 -0.4236 0.1329 Papilloedema, unspecified 0.0003709 17.14 4.815 HSPG2 rs149094407 1:21880115:G:A 1 21880115 G A 1:22206608 0.968082 0.000557993 0 205 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transient global amnesia 8.7e-06 5.9907 1.3471 HSPG2 rs143669458 1:21880484:C:T 1 21880484 C T 1:22206977 0.99334 0.0016141 0 593 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormal findings on examination of blood, without diagnosis 1.15e-05 1.2492 0.2848 HSPG2 rs142071466 1:21884657:G:A 1 21884657 G A 1:22211150 0.996365 2053 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not specified Melignant neoplasm of mesothelium and soft tissue (other cancers excluded from controls) 0.00111 1.7535 0.5379 Endometriosis 9.902e-07 3.378 0.69 HSPG2 rs140621959 1:21885130:C:T 1 21885130 C T 1:22211623 0.963285 639 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Von Willebrand disease 0.00024 9.5813 2.6092 HSPG2 rs75467696 1:21885448:G:T 1 21885448 G T 1:22211941 0.992664 2534 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dyssegmental Dysplasia;Schwartz Jampel syndrome type 1;not provided;not specified Other disorders of bone density and structure 0.000103 2.3829 0.6137 !!!Vapaa-ajan tapaturmat 0.0005068 153.582 44.169 HSPG2 rs41310388 1:21887547:G:A 1 21887547 G A 1:22214040 0.979545 0.014663 98 5289 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified polyneuropathies, also in other diseases 8.15e-05 0.5396 0.137 Dermatitis due to substances taken internally 0.0002009 8.185 2.202 HSPG2 rs41307868 1:21887553:C:T 1 21887553 C T 1:22214046 0.973391 29518 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for examination and investigation 0.000823 -0.0411 0.0123 Conduction disorders 0.001391 0.332 0.104 HSPG2 rs2229478 1:21887634:A:G 1 21887634 A G 1:22214127 0.997031 85871 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified inflammatory spondylopathies 0.000395 0.2394 0.0676 Benign neoplasm: Vulva 0.0002815 -0.351 0.097 HSPG2 rs2254358 1:21890081:C:A 1 21890081 C A 1:22216574 0.997263 85884 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified inflammatory spondylopathies 0.000397 -0.2393 0.0676 Other respiratory diseases principally affecting the interstitium 0.0001097 -0.096 0.025 HSPG2 rs2254357 1:21890111:C:G 1 21890111 C G 1:22216604 0.997117 85871 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified inflammatory spondylopathies 0.000396 -0.2393 0.0676 Other respiratory diseases principally affecting the interstitium 0.0001091 -0.096 0.025 EPHA8 rs62618734 1:22601010:G:A 1 22601010 G A 1:22927503 0.956151 1605 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of veins 0.000637 -0.5976 0.175 Disorders of psychological developtment 0.0003227 10.255 2.852 C1QA rs17887074 1:22637683:G:A 1 22637683 G A 1:22964176 0.995378 4181 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter C1q deficiency Alcohol related diseases, tilastokeskus definition 0.000414 0.2556 0.0724 Episcleritis 0.00157 8.666 2.741 EPHB2 rs28936395 1:22906853:G:A 1 22906853 G A 1:23233346 0.990829 1043 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Prostate cancer/brain cancer susceptibility Meniscus derangement 0.00113 -0.4541 0.1395 Other spirochaetal diseases 0.001873 46.532 14.964 LUZP1 rs35645814 1:23092310:G:C 1 23092310 G C 1:23418803 0.994865 0.0216175 174 7768 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary gonarthrosis, bilateral 4.25e-05 0.2763 0.0675 Carcinoma in situ of cervix uteri 0.001403 9.208 2.883 FUCA1 rs145603001 1:23848682:C:T 1 23848682 C T 1:24175172 0.977561 3521 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Respiratory disorders in diseases classified elsewhere 0.00161 2.5263 0.801 Congenital iodine-deficiency syndrome/hypothyroidism 0.0001362 26.363 6.91 FUCA1 rs13551 1:23854472:T:C 1 23854472 T C 1:24180962 0.999706 87410 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thyrotoxicosis, other and/or unspecified 0.000444 0.1099 0.0313 Fistulae involving female genital tract 0.0006939 -0.38 0.112 FUCA1 rs143691289 1:23865613:C:G 1 23865613 C G 1:24192103 0.992078 0.00833996 26 3038 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fucosidosis;not specified Heart failure,strict 4.41e-05 -0.3787 0.0927 Other/unspecified dorsalgia 0.0002357 3.99 1.085 FUCA1 rs2070956 1:23868258:G:C 1 23868258 G C 1:24194748 0.996391 0.0444435 798 15530 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fucosidosis;not provided;not specified Atrial fibrillation and flutter 9.48e-05 0.1536 0.0394 0.0001103 0.268 0.069 FUCA1 rs61996282 1:23868280:C:G 1 23868280 C G 1:24194770 0.951368 480 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services for examination and investigation 0.000192 0.3662 0.0982 FUCA1 rs2070955 1:23868283:G:A 1 23868283 G A 1:24194773 0.996395 0.0444544 800 15532 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fucosidosis;not provided;not specified Atrial fibrillation and flutter 8.63e-05 0.1544 0.0393 0.0001043 0.269 0.069 MYOM3 rs139328461 1:24065835:C:T 1 24065835 C T 1:24392325 0.986965 4792 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Other, unspecified and serous retinal detachments 0.000448 1.4329 0.4082 Emphysema 0.001525 8.451 2.666 GRHL3 rs34637004 1:24336694:T:C 1 24336694 T C 1:24663184 0.991505 27832 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Van der Woude syndrome 2 Paraplegia, diplegia of upper limbs 0.00152 0.5628 0.1775 Nerve, nerve root and plexus disorders 0.0002298 0.186 0.051 GRHL3 rs41268753 1:24342967:C:T 1 24342967 C T 1:24669457 0.985811 16914 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Van der Woude syndrome 2 Other and unspecified disorders of vitreous body 0.000137 -0.206 0.054 Beningn neoplasm: Meninges, unspecified (other cancers excluded from controls) 0.001175 4.399 1.356 GRHL3 rs141193530 1:24342969:C:G 1 24342969 C G 1:24669459 0.94074 1211 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of trunk (other cancers excluded from controls) 0.000832 1.4811 0.4432 GRHL3 rs142369311 1:24344916:C:A 1 24344916 C A 1:24671406 0.974928 1320 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified and unspecified personality disorders 0.000154 1.3542 0.3578 0.0001008 1.387 0.357 GRHL3 rs116396279 1:24344928:A:G 1 24344928 A G 1:24671418 0.991536 24376 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Van der Woude syndrome 2 Diseases of middle ear and mastoid 0.00251 0.0879 0.0291 Nerve, nerve root and plexus disorders 1.807e-05 0.256 0.06 GRHL3 rs6694170 1:24364186:G:A 1 24364186 G A 1:24690676 0.996844 14353 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Pure hyperglyceridaemia 0.00051 0.9793 0.2818 Benign neoplasm: Pancreas 0.0002735 7.67 2.108 RHCE rs586178 1:25420739:G:C 1 25420739 G C 1:25747230 0.998457 0.545908 110226 90334 missense_variant unknown no interpretation for the single variant not_provided no interpretation for the single variant none Statin medication 7.61e-07 0.048 0.0097 Statin medication 5.427e-06 0.034 0.007 LDLRAP1 rs139877665 1:25554912:G:A 1 25554912 G A 1:25881403 0.991292 0.00179919 0 661 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter ILD, hospital admission 2, with pulmonary infections 2.37e-05 2.9442 0.6965 LDLRAP1 rs148916767 1:25557259:C:T 1 25557259 C T 1:25883750 0.971658 374 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 0.000137 1.0355 0.2716 LDLRAP1 rs6687605 1:25563141:T:C 1 25563141 T C 1:25889632 0.995893 0.492798 89606 91442 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative enterocolitis 3.57e-05 0.3076 0.0744 Disorders of adult personality and behaviour 5.612e-05 0.073 0.018 LDLRAP1 rs41291058 1:25563756:C:T 1 25563756 C T 1:25890247 0.969843 13389 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal recessive;not provided;not specified Functional dyspepsia 0.000437 0.2268 0.0645 Spondylopathies (FG) 0.001374 1.162 0.363 SEPN1 rs35019869 1:25805147:A:G 1 25805147 A G 1:26131638 0.996349 4115 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Eichsfeld type congenital muscular dystrophy;SEPN1-Related Disorders;not specified Abscess of lung 0.000549 2.6604 0.7699 Other, unspecified and serous retinal detachments 0.000409 16.161 4.573 SEPN1 rs7349185 1:25805163:G:A 1 25805163 G A 1:26131654 0.991901 0.729047 195468 72375 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Actinic keratosis 3.22e-07 -0.1473 0.0288 Radiation-related disorders of the skin and subcutaneous tissue 8.057e-06 -0.075 0.017 SEPN1 rs115852080 1:25808625:G:A 1 25808625 G A 1:26135116 0.967528 1153 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Eichsfeld type congenital muscular dystrophy;not provided;not specified Achalasia of cardia 0.000146 4.5903 1.2084 Secondary right heart disease 0.0002821 256.819 70.726 SEPN1 rs2294228 1:25814082:C:A 1 25814082 C A 1:26140573 0.998378 0.746682 204924 69398 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Actinic keratosis 8.5e-08 -0.1574 0.0294 Radiation-related disorders of the skin and subcutaneous tissue 4.063e-06 -0.077 0.017 SEPN1 rs147131452 1:25815590:G:A 1 25815590 G A 1:26142081 0.974717 0.0017883 0 657 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Recurrent dislocation and subluxation of joint 6.05e-05 2.7256 0.6795 AUNIP rs564635111 1:25835277:GTTTCACTGAT:G 1 25835277 GTTTCACTGAT G 1:26161768 0.978171 3398 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute mastoiditis 0.000683 2.8817 0.8485 Benign neoplasm: Stomach (other cancers excluded from controls) 0.001101 9.443 2.894 TRIM63 rs61749355 1:26058416:C:T 1 26058416 C T 1:26384907 0.973378 1147 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 0.000159 1.4731 0.39 Allergic urticaria 0.003873 26.306 9.108 TRIM63 rs148395034 1:26058482:G:A 1 26058482 G A 1:26384973 0.972672 246 pLoF unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Helminthiases 0.000116 11.8759 3.0804 CNKSR1 rs144314289 1:26188241:C:T 1 26188241 C T 1:26514732 0.990705 0.00219659 4 803 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Other specified/unspecified dorsopathies 2.59e-05 4.4943 1.0683 Benign neoplasm: Rectosigmoid junction 0.00242 37.216 12.269 DHDDS rs3816539 1:26460136:G:A 1 26460136 G A 1:26786627 0.999951 0.246606 22668 67932 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Residual foreign body in soft tissue 5.14e-05 -0.2901 0.0716 Recurrent dislocation of patella 3.468e-05 0.352 0.085 ARID1A rs200572766 1:26731398:C:T 1 26731398 C T 1:27057889 0.994502 1342 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Blood alcohol or alcohol intoxication level 0.000733 3.9966 1.1835 Persons encountering health services in other circumstances 0.0004411 2.151 0.612 ARID1A rs116540923 1:26775584:G:A 1 26775584 G A 1:27102075 0.831935 0.000536218 0 197 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes mellitus 5.85e-06 1.2369 0.273 ARID1A rs140946580 1:26779234:A:G 1 26779234 A G 1:27105725 0.993662 1753 missense_variant dominant not provided not_provided no assertion provided none not specified Other noninflammatory disorders of vulva and perineum 0.000522 1.2351 0.356 Gout, strict definition 0.0003646 14.972 4.2 ARID1A rs41303631 1:26779615:G:A 1 26779615 G A 1:27106106 0.991325 0.00149161 2 546 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyphaema and other vascular disorders of iris and ciliary body 7.87e-05 8.598 2.1777 NR0B2 rs6659176 1:26913429:C:G 1 26913429 C G 1:27239920 0.999571 0.0774413 2168 26283 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 1.48e-06 0.0876 0.0182 Functional dyspepsia 0.0007042 0.395 0.116 MAP3K6 rs35659744 1:27360975:G:T 1 27360975 G T 1:27687466 0.994809 68550 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified paralytic syndromes 0.00284 -0.415 0.1391 Vestibular neuronitis 0.001011 0.222 0.068 MAP3K6 rs55841735 1:27362252:T:C 1 27362252 T C 1:27688743 0.987079 2459 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Examination and observation for other reasons 0.000481 0.3281 0.094 Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.001031 9.739 2.967 FCN3 rs532781899 1:27373179:AG:A 1 27373179 AG A 1:27699670 0.990812 0.00986151 38 3585 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency due to ficolin 3 deficiency Myocarditis 6.29e-05 1.3011 0.3251 Other specified disorders of muscle 0.0001385 26.052 6.836 WASF2 rs149705388 1:27412656:G:A 1 27412656 G A 1:27739150 0.955087 324 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personal history of other diseases and conditions 0.000113 4.0208 1.0412 AHDC1 rs754444655 1:27548873:TGCAGAGGTG:T 1 27548873 TGCAGAGGTG T 1:27875384 0.933515 167 inframe_indel dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma/COPD (KELA code 203) 0.000814 1.1152 0.3331 AHDC1 rs147276945 1:27550705:C:T 1 27550705 C T 1:27877216 0.908836 1077 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Hereditary ataxia 0.000587 5.2739 1.5343 Essential (haemorrhagic) thrombocythaemia 0.0008889 101.771 30.622 AHDC1 rs181285619 1:27550881:C:T 1 27550881 C T 1:27877392 0.957873 1393 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided General symptoms and signs 0.000375 -0.25 0.0703 Erythema intertrigo 0.0007501 90.459 26.838 AHDC1 rs199719452 1:27551904:G:A 1 27551904 G A 1:27878415 0.918382 1771 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Other disorders of the genitourinary system 0.000246 1.1764 0.3209 Continuous positive airway pressure 0.001686 6.724 2.141 THEMIS2 rs41284294 1:27879739:T:C 1 27879739 T C 1:28206250 0.994002 4302 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and/or unspecified nontoxic goitre 0.000677 0.739 0.2174 6.454e-05 0.77 0.193 SESN2 rs146389695 1:28269198:C:T 1 28269198 C T 1:28595709 0.922374 437 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified diabetes without complications 0.00118 2.9403 0.9062 EPB41 rs111642750 1:28993501:G:A 1 28993501 G A 1:29320013 0.988474 8342 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Complications predominantly related to the puerperium 0.000761 0.3685 0.1095 Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.0004035 0.989 0.28 EPB41 rs142874233 1:29015733:C:T 1 29015733 C T 1:29342245 0.892377 0.00151339 0 556 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Viral infections characterized by skin and mucous membrane lesions 6.89e-05 1.3444 0.3378 MECR rs148978800 1:29200516:G:A 1 29200516 G A 1:29527028 0.979257 0.00218298 8 794 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical abortion 5.09e-05 0.7434 0.1835 Malignant neoplasm of rectum 0.002325 35.214 11.564 SDC3 rs2282440 1:30874473:G:A 1 30874473 G A 1:31347320 0.995673 26941 missense_variant both association association no assertion criteria provided no_Criteria Obesity, association with Unspesified kidney failure 0.000179 0.3804 0.1015 Other complications of surgical and medical care, not elsewhere classified 0.001006 0.781 0.238 SDC3 rs2491132 1:30876800:C:T 1 30876800 C T 1:31349647 0.981623 59519 missense_variant both association association no assertion criteria provided no_Criteria Speech disturbances, not elsewhere classified 0.000423 -0.2291 0.065 Barret oesophagus 0.001179 0.452 0.139 SDC3 rs41269523 1:30877136:C:T 1 30877136 C T 1:31349983 0.961997 2466 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Shoulder lesions 0.000678 -0.2821 0.083 Contusion of other and unspecified parts of foot 0.0001683 22.86 6.076 FABP3 rs2228194 1:31369473:T:A 1 31369473 T A 1:31842320 0.983004 2427 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Connective and other soft tissue of lower limb, including hip 0.000366 2.321 0.6513 Endometriosis of rectovaginal septum and vagina 0.001068 8.193 2.504 SERINC2 rs112561697 1:31424740:G:A 1 31424740 G A 1:31897587 0.958949 292 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of digestive organs (other cancers excluded from controls) 0.00031 1.4836 0.4114 ADGRB2 rs112847200 1:31738875:G:A 1 31738875 G A 1:32204476 0.986336 0.00534585 10 1954 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fissure and fistula of anal and rectal regions 1.34e-05 0.7739 0.1778 Parkinson's disease (more controls excluded) 0.0001209 21.301 5.541 CCDC28B rs140234450 1:32204317:G:A 1 32204317 G A 1:32669918 0.978245 0.0122296 52 4441 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Adult respiratory distress syndrome 6.04e-05 3.141 0.783 Impotence 0.0002372 18.953 5.156 YARS rs766246001 1:32791162:C:G 1 32791162 C G 1:33256763 0.993814 706 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Background diabetic retinopathy 0.000493 1.6532 0.4744 AK2 rs12116440 1:33013276:C:T 1 33013276 C T 1:33478877 0.967138 2442 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Reticular dysgenesis;not provided;not specified Benign neoplasm: Short bones of upper limb 0.000934 2.717 0.8209 Hereditary ataxia 0.0006017 120.78 35.204 AK2 rs61750965 1:33021406:C:T 1 33021406 C T 1:33487007 0.883904 213 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Parkinson's disease, strict definition 0.000181 4.3857 1.1715 AK2 rs138577419 1:33036780:G:C 1 33036780 G C 1:33502381 0.910464 94 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.00196 1.6698 0.5392 GJB4 rs140996335 1:34761625:G:A 1 34761625 G A 1:35227226 0.962739 209 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of other connective and soft tissue (other cancers excluded from controls) 0.000585 11.7284 3.411 GJB4 rs149110828 1:34761638:G:A 1 34761638 G A 1:35227239 0.989163 1075 pLoF dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Anaemia in chronic diseases classified elsewhere 0.000633 5.1784 1.5154 Urticaria and erythema 0.0004533 12.465 3.554 GJB4 rs79193415 1:34761761:C:G 1 34761761 C G 1:35227362 0.985159 7898 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Thyroiditis 0.000311 0.6569 0.1822 Pyogenic granuloma 0.001285 9.573 2.974 GJB4 rs3738346 1:34761865:A:C 1 34761865 A C 1:35227466 0.988747 10416 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other neurotic disorders 0.00131 0.4795 0.1492 Spondylosis 0.0001037 0.804 0.207 GJB3 rs1805063 1:34784856:C:T 1 34784856 C T 1:35250457 0.980197 18924 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;not provided;not specified Other extrapyramidal and movement disorders+ in other diseases 0.000132 0.3054 0.0799 Acquired absence of organs, not elsewhere classified 0.001418 4.328 1.356 GJB3 rs117385606 1:34785342:G:A 1 34785342 G A 1:35250943 0.988474 638 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other joint disorders 0.000222 -0.4275 0.1158 GJA4 rs61777220 1:34794607:C:T 1 34794607 C T 1:35260208 0.968624 0.0088299 32 3212 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Foreign body in ear 9.45e-05 2.9112 0.7456 Erythema intertrigo 0.0008499 45.875 13.752 rs144204083 1:35449891:G:A 1 35449891 1:35915492 0.922697 2201 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otitis externa, unspecified 0.000917 1.0962 0.3307 Weight loss 0.002569 30.362 10.07 rs34372241 1:35479008:T:C 1 35479008 1:35944609 0.986084 3801 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Certain zoonotic bacterial diseases 0.000527 1.8707 0.5397 Other anxiety disorders 0.0004276 3.287 0.933 CSF3R rs146617729 1:36466446:C:T 1 36466446 C T 1:36932047 0.96971 669 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease, wide definition (more controls excluded) 0.000179 1.2697 0.3388 CSF3R rs3917991 1:36469204:C:G 1 36469204 C G 1:36934805 0.99734 7806 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neutropenia, severe congenital, 7, autosomal recessive;not specified Anxiety disorders (more controls excluded) 0.00199 0.1422 0.046 Hodgkin lymphoma 0.002484 7.002 2.314 CSF3R rs3918020 1:36469807:C:T 1 36469807 C T 1:36935408 0.89431 1196 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Acute appendicitis, with complications 0.000367 0.8502 0.2386 Continuous positive airway pressure 0.0001842 18.575 4.967 CSF3R rs3918019 1:36471505:C:T 1 36471505 C T 1:36937106 0.982714 7259 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neutropenia, severe congenital, 7, autosomal recessive Benign neoplasm: Other/unspecified site (other cancers excluded from controls) 0.000573 1.4882 0.4321 Other congenital malformations of circulatory system 0.0004667 10.647 3.043 CSF3R rs3918018 1:36472277:C:T 1 36472277 C T 1:36937878 0.954213 7845 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neutropenia, severe congenital, 7, autosomal recessive;not specified Other shoulder lesions 0.000323 0.6265 0.1742 Poisoning by narcotics and psychodysleptics [hallucinogens] 0.002513 7.122 2.357 CSF3R rs142999683 1:36475383:C:T 1 36475383 C T 1:36940984 0.991969 410 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of shoulder and upper limb, except wrist and hand 0.00021 9.716 2.621 DNALI1 rs41267313 1:37562195:A:C 1 37562195 A C 1:38027796 0.98253 8550 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for specific procedures and health care 0.00174 -0.1139 0.0364 Iliotibial band syndrome 0.0007771 12.197 3.629 MTF1 rs79630033 1:37823790:G:A 1 37823790 G A 1:38289462 0.989934 559 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Guttate psoriasis 0.000281 8.9224 2.4567 MTF1 rs41267341 1:37857470:G:T 1 37857470 G T 1:38323142 0.99646 0.0265115 270 9470 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postprocedural musculoskeletal disorders, not elsewhere classified 2.93e-05 0.8129 0.1945 Thyrotoxicosis 2.8e-05 1.88 0.449 GJA9 rs61745441 1:38874709:A:G 1 38874709 A G 1:39340381 0.988955 5537 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of shoulder and upper arm 0.000603 0.6323 0.1843 Other ulcerative colitis 0.001625 8.456 2.683 MACF1 rs139995582 1:39292767:G:T 1 39292767 G T 1:39758439 0.995668 1390 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydrocele 0.000372 1.0006 0.2812 Mental and behabioural disorders of puerperum, not classified elsewhere 0.0007564 210.469 62.486 MACF1 rs148207245 1:39297693:G:T 1 39297693 G T 1:39763365 0.970374 1074 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic gout 0.000189 2.6863 0.7197 Other disorders of male genital organs 0.0009729 61.497 18.645 MACF1 rs147777128 1:39387968:A:C 1 39387968 A C 1:39853640 0.970769 2217 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.000167 0.3258 0.0865 Conductive hearing loss, unspecified 0.0007088 11.842 3.497 MACF1 rs138819868 1:39485632:T:G 1 39485632 T G 1:39951304 0.998491 0.00214487 8 780 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormality of the corpus callosum Ohter specific/unspecified arthritis 9.88e-05 1.1655 0.2993 Juvenile rheuma 0.000613 129.006 37.657 TRIT1 rs34889376 1:39850199:G:A 1 39850199 G A 1:40315871 0.995211 9757 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of upper limb, including shoulder 0.00118 1.0543 0.3249 Other and unspecified coagulation defects 1.194e-05 6.5 1.485 TRIT1 rs184469579 1:39883470:G:A 1 39883470 G A 1:40349142 0.968429 0.0010561 0 388 pLoF recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Syncope and collapse 8.37e-05 1.1964 0.3042 PPT1 rs146902902 1:40074078:T:C 1 40074078 T C 1:40539750 0.982387 332 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified injuries of head 0.000242 6.5318 1.7794 PPT1 rs1800205 1:40091361:A:G 1 40091361 A G 1:40557033 0.999949 38977 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of blood and blood-forming organs 0.000719 -0.1595 0.0471 Antepartum haemorrhage, not elsewhere classified 0.0009061 0.459 0.138 PPT1 rs137852695 1:40091398:T:A 1 40091398 T A 1:40557070 0.98917 3010 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mycoses 0.000139 0.5689 0.1493 RLF rs61781760 1:40202583:C:G 1 40202583 C G 1:40668255 0.987785 0.0011922 0 438 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for other conditions predominantly related to pregnancy 1.34e-05 2.1812 0.501 RLF rs78728589 1:40237302:C:A 1 40237302 C A 1:40702974 0.987644 0.00117859 0 433 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for other conditions predominantly related to pregnancy 1.13e-05 2.2213 0.5058 RLF rs75855852 1:40239265:C:G 1 40239265 C G 1:40704937 0.987265 0.00117587 0 432 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for other conditions predominantly related to pregnancy 1.03e-05 2.2429 0.5084 ZMPSTE24 rs966628147 1:40258324:G:GT 1 40258324 G GT 1:40723996 0.941922 212 pLoF recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Other abnormal findings of blood chemistry 0.000517 12.3716 3.5635 COL9A2 rs3737821 1:40302672:C:T 1 40302672 C T 1:40768344 0.996668 9079 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant;Stickler Syndrome, Recessive;not specified Depression 0.000325 -0.1409 0.0392 Dizziness and giddiness 0.001087 0.69 0.211 COL9A2 rs2228567 1:40307451:G:C 1 40307451 G C 1:40773123 0.996996 28538 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant;Stickler Syndrome, Recessive;not specified Frostbite 0.000587 0.8585 0.2498 Macular cyst 0.0009429 2.325 0.703 COL9A2 rs2228564 1:40307477:T:C 1 40307477 T C 1:40773149 0.99642 67969 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Recurrent dislocation of patella 0.000231 0.2405 0.0653 Polyarteritis nodosa and related conditions 0.0001504 0.795 0.21 COL9A2 rs12077871 1:40307478:G:A 1 40307478 G A 1:40773150 0.996743 0.0116253 48 4223 pLoF both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant;Stickler Syndrome, Recessive;not specified Psoriasis 1.61e-05 0.5247 0.1216 Supplementary factors related to causes of morbidity and mortality classified elsewhere 0.0002776 19.093 5.252 COL9A2 rs148362133 1:40310128:C:T 1 40310128 C T 1:40775800 0.870011 230 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Emphysema 0.0023 4.6876 1.5375 COL9A2 rs2228565 1:40310265:G:A 1 40310265 G A 1:40775937 0.975612 13451 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant;Stickler Syndrome, Recessive;not specified Recurrent dislocation of patella 0.000125 0.5824 0.1518 Chalazion 0.0001592 1.576 0.417 EXO5 rs41268067 1:40515154:A:G 1 40515154 A G 1:40980826 0.995244 5871 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis, primary, with hip surgery 0.000383 -0.2992 0.0842 Lagophthalmos 6.852e-05 37.323 9.374 KCNQ4 rs34287852 1:40831156:T:G 1 40831156 T G 1:41296828 0.984263 70682 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteomyelitis 0.000559 0.2235 0.0648 Postzoster neuralgia 0.0001972 0.765 0.206 HIVEP3 rs72669005 1:41510546:G:A 1 41510546 G A 1:41976217 0.987748 12564 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Macular hole 0.00275 -0.5939 0.1983 Synovial cyst of popliteal space [Baker] 0.0005829 2.066 0.601 HIVEP3 rs11809423 1:41510858:C:T 1 41510858 C T 1:41976529 0.996278 13001 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Chronic sinusitis 0.00128 0.157 0.0488 Chronic sinusitis 0.0005932 0.631 0.184 HIVEP3 rs41269477 1:41583579:G:T 1 41583579 G T 1:42049250 0.962478 2448 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Descending colon 0.000418 1.5357 0.4352 Complications of other internal prosthetic devices, implants and grafts 0.002034 42.1 13.646 CLDN19 rs4660658 1:42735863:G:A 1 42735863 G A 1:43201534 0.995921 40386 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of vulva and perineum 0.000166 0.2686 0.0713 Medication related adverse effects (Asthma/COPD) 0.0003677 0.108 0.03 CLDN19 rs116804195 1:42735905:C:T 1 42735905 C T 1:43201576 0.993162 6579 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Renal Hypomagnesemia, Recessive Status post-ami 0.000253 0.6282 0.1717 Calculus of kidney and ureter 0.001639 1.574 0.5 CLDN19 rs9660973 1:42735943:C:T 1 42735943 C T 1:43201614 0.998034 0.0273825 276 9784 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Renal Hypomagnesemia, Recessive Cleft lip and cleft palate 3.38e-05 1.814 0.4375 Other peripheral vertigo 0.0006983 2.5 0.737 P3H1 rs769986758 1:42746710:T:C 1 42746710 T C 1:43212381 0.885521 708 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension complicating pregnancy, childbirth, and the puerperium 0.000509 0.7547 0.2171 P3H1 rs116577636 1:42747079:C:T 1 42747079 C T 1:43212750 0.938025 0.00758871 38 2750 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Mental and behavioural disorders due to psychoctive substance use 5.13e-05 0.3939 0.0973 Other hearing loss 0.001622 3.56 1.129 P3H1 rs3738496 1:42747198:A:T 1 42747198 A T 1:43212869 0.995433 0.0983456 3636 32495 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of vulva and perineum 3.54e-05 0.3303 0.0799 Benign neoplasm: Lip (other cancers excluded from controls) 0.002194 1.119 0.365 P3H1 rs67014447 1:42747255:G:A 1 42747255 G A 1:43212926 0.997727 0.0273498 266 9782 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Cleft lip and cleft palate 3.25e-05 1.8218 0.4384 Other peripheral vertigo 0.0006295 2.565 0.75 P3H1 rs3738497 1:42747397:G:T 1 42747397 G T 1:43213068 0.993777 12406 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteogenesis imperfecta type 8 Other ill-defined and unspecified causes of mortality 0.00143 0.8181 0.2565 Disorders related to short gestation and low birth weight, not elsewhere classified 8.815e-05 9.441 2.408 P3H1 rs144336336 1:42748232:T:G 1 42748232 T G 1:43213903 0.980663 0.00136096 2 498 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm 7.07e-05 0.515 0.1296 P3H1 rs140254470 1:42748243:C:T 1 42748243 C T 1:43213914 0.998159 1330 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicalgia 0.000369 0.8534 0.2396 Gout, unspecified 6.841e-05 32.673 8.206 P3H1 rs11581921 1:42750259:C:T 1 42750259 C T 1:43215930 0.997662 26993 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified General symptoms and signs 0.00054 -0.0547 0.0158 Injury of nerves and spinal cord at neck level 9.526e-05 2.478 0.635 P3H1 rs139259804 1:42752339:C:G 1 42752339 C G 1:43218010 0.993456 936 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Osteogenesis imperfecta type 8;not provided Depression 0.000162 0.4718 0.1251 Combined immunodeficiencies 0.0005316 142.787 41.216 P3H1 rs113593896 1:42754892:T:C 1 42754892 T C 1:43220563 0.992471 0.00565342 12 2065 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Osteogenesis imperfecta type 8;not provided;not specified COPD-related respiratory insufficiency 4.02e-05 0.5514 0.1343 Other and unspecified disorders involving the immune mechanism, not elsewhere classified 0.0007751 99.971 29.74 P3H1 rs6700677 1:42757818:C:T 1 42757818 C T 1:43223489 0.997591 0.0273771 274 9784 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteogenesis imperfecta type 8;not provided;not specified Cleft lip and cleft palate 3.34e-05 1.8165 0.4378 Other peripheral vertigo 0.0006894 2.507 0.739 P3H1 rs372710498 1:42766778:C:T 1 42766778 C T 1:43232449 0.996942 1318 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicalgia 0.00112 0.7733 0.2374 Gout, unspecified 7.428e-05 30.297 7.647 P3H1 rs55716016 1:42766833:C:A 1 42766833 C A 1:43232504 0.993604 0.0176489 124 6360 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteogenesis imperfecta type 8;not provided;not specified Undetermined asthma 1.6e-05 0.6917 0.1603 Unspesified kidney failure 0.0006159 5.63 1.644 ERMAP rs56025238 1:42830851:G:A 1 42830851 G A 1:43296522 0.942605 0.000470892 0 173 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasms (other cancers excluded from controls) 6.62e-05 0.8312 0.2083 ERMAP rs56136737 1:42830860:C:G 1 42830860 C G 1:43296531 0.867692 164 missense_variant unknown Affects association no assertion criteria provided no_Criteria Exfoliative dermatitis 0.00128 21.6509 6.7217 SLC2A1 rs202140308 1:42929193:A:T 1 42929193 A T 1:43394864 0.870424 77 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of forearm 0.000343 2.4605 0.6872 EBNA1BP2 rs11559312 1:43164644:T:A 1 43164644 T A 1:43630315 0.976404 945 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of skin of trunk (other cancers excluded from controls) 0.0026 4.6203 1.5344 EBNA1BP2 rs11559316 1:43171575:G:C 1 43171575 G C 1:43637246 0.994178 6961 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hallux valgus (acquired) 0.000373 0.2513 0.0706 Cellulitis 8.627e-06 3.663 0.823 MPL rs12731981 1:43338669:G:A 1 43338669 G A 1:43804340 0.98594 7636 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital amegakaryocytic thrombocytopenia;Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia;not specified Ankylosing spondylitis, strict definition 0.000388 0.8744 0.2465 Special screening examination for other diseases and disorders 0.0009032 2.721 0.82 MPL rs41269541 1:43349364:C:T 1 43349364 C T 1:43815035 0.978747 2603 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital amegakaryocytic thrombocytopenia;Congenital amegakaryocytic thrombocytopenia;Essential thrombocythemia;Essential thrombocythemia;not specified Special screening examination for other diseases and disorders 0.000275 0.9835 0.2704 Acute epiglottitis 0.002061 46.16 14.981 CDC20 rs1801456 1:43361123:G:A 1 43361123 G A 1:43826794 0.996346 3800 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Headache 0.00194 -0.228 0.0736 Vitamin D deficiency 0.002584 38.336 12.722 SZT2 rs2782643 1:43420823:C:T 1 43420823 C T 1:43886494 0.999969 0.397212 58066 87865 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other heart diseases 6.03e-05 0.0341 0.0085 Other heart diseases 2.369e-05 0.042 0.01 SZT2 rs143992266 1:43425140:G:A 1 43425140 G A 1:43890811 0.997307 1336 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seizures;not specified Macular cyst 0.000202 5.2571 1.4147 Manic episode 0.0002758 262.386 72.142 SZT2 rs144176855 1:43425908:A:G 1 43425908 A G 1:43891579 0.96691 282 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other infective otitis externa 0.000589 4.1272 1.201 SZT2 rs150269825 1:43429746:C:T 1 43429746 C T 1:43895417 0.995885 426 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Alcoholic gastritis 0.00185 7.8171 2.5114 SZT2 rs202088024 1:43429791:G:C 1 43429791 G C 1:43895462 0.971975 0.00128747 2 471 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Persistent mood disorders 8.12e-06 1.9882 0.4456 SZT2 rs138762270 1:43431072:C:T 1 43431072 C T 1:43896743 0.976799 237 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified dermatitis 0.000692 1.3213 0.3894 SZT2 rs149831634 1:43431510:C:T 1 43431510 C T 1:43897181 0.98904 4054 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seizures;not specified Multiple delivery 0.000284 1.0677 0.2942 Erectile dysfunction 0.0005951 11.125 3.24 SZT2 rs147797700 1:43431825:G:A 1 43431825 G A 1:43897496 0.990917 0.00688645 22 2508 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seizures;not specified Other diseases of liver 3.65e-05 0.9088 0.2201 Ovarian cyst 5.277e-07 3.782 0.754 SZT2 rs150113647 1:43441554:T:C 1 43441554 T C 1:43907225 0.995508 522 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other acute lower respiratory infections 0.000354 0.8303 0.2325 SZT2 rs150591561 1:43442922:G:A 1 43442922 G A 1:43908593 0.997451 284 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of orbit 0.000375 5.8726 1.6511 SZT2 rs139027171 1:43443673:C:T 1 43443673 C T 1:43909344 0.997765 831 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Seizures;not provided Other and unspcified rosacea 0.000141 2.4662 0.648 Dermatitis herpetiformis 0.0004968 141.788 40.715 SZT2 rs201246816 1:43448237:C:T 1 43448237 C T 1:43913908 0.990549 834 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary angle-closure glaucoma 0.00146 2.482 0.7801 Alzheimer's disease (Late onset) (more controls excluded) 1.145e-06 3.996 0.821 ST3GAL3 rs147330005 1:43736390:G:C 1 43736390 G C 1:44202061 0.976434 293 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fracture of forearm 0.000249 1.165 0.318 ST3GAL3 rs37458 1:43824858:A:G 1 43824858 A G 1:44290530 0.999879 84442 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Status post-ami 9e-04 -0.1538 0.0463 0.0001871 -0.184 0.049 ST3GAL3 rs199852949 1:43920481:A:G 1 43920481 A G 1:44386153 0.979212 3248 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atrial fibrillation and flutter 0.000233 0.3132 0.0851 Vascular disorders of the intestines 0.0005858 12.517 3.641 C1orf228 rs75696348 1:44724145:G:A 1 44724145 G A 1:45189817 0.968204 415 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy, other and unspecified 0.00069 2.8467 0.8389 PTCH2 rs11573590 1:44826501:G:A 1 44826501 G A 1:45292173 0.993629 16145 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gorlin syndrome Scoliosis 0.00177 0.3627 0.116 Other or ill-defined heart diseases 3.16e-05 2.49 0.598 PTCH2 rs11573586 1:44828037:G:A 1 44828037 G A 1:45293709 0.98455 4986 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gorlin syndrome Acne vulgaris 0.00131 0.7174 0.2233 Chronic nephritic syndrome 0.0002949 7.279 2.011 PTCH2 rs11573586 1:44828037:G:T 1 44828037 G T 1:45293709 0.967966 1650 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gorlin syndrome Campylobacter enteritis 0.000553 2.665 0.7717 Dependent personality disorder 9.155e-07 240.833 49.06 PTCH2 rs755069524 1:44829201:GC:G 1 44829201 GC G 1:45294873 0.928851 226 pLoF dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Retention of urine 0.000761 1.7952 0.5332 PTCH2 rs139624405 1:44829624:C:T 1 44829624 C T 1:45295296 0.988213 7035 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gorlin syndrome Exfoliative dermatitis 0.00223 1.6645 0.5443 Thyrotoxicosis, other and/or unspecified 0.0005063 2.32 0.667 EIF2B3 rs77068026 1:44874670:A:C 1 44874670 A C 1:45340342 0.994642 10554 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leukoencephalopathy with vanishing white matter;not specified Malignant neoplasm of bronchus and lung 0.00107 0.3744 0.1144 Other or ill-defined heart diseases 0.0001084 3.878 1.002 EIF2B3 rs138741202 1:44875688:T:C 1 44875688 T C 1:45341360 0.995873 3334 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to alcohol, excluding acute intoxication 0.000532 -0.3129 0.0903 Follicular lymphoma 0.0002525 19.923 5.444 UROD rs36033115 1:45014560:T:A 1 45014560 T A 1:45480232 0.989279 7431 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Porphyria cutanea tarda Vascular dementia (undefined) 0.000521 1.0597 0.3054 Cushing syndrome 0.0002029 22.766 6.128 ZSWIM5 rs77616762 1:45058639:C:T 1 45058639 C T 1:45524311 0.941504 240 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic lower respiratory diseases 0.000356 0.7419 0.2078 MUTYH rs140118273 1:45329412:G:A 1 45329412 G A 1:45795084 0.997445 1892 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided;not specified Phakomatoses, not elsewhere classified 0.000352 4.652 1.3017 Invasive ventilation 0.001923 47.921 15.449 MUTYH rs36053993 1:45331556:C:T 1 45331556 C T 1:45797228 0.993404 681 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fistulae involving female genital tract 0.00136 5.6719 1.7703 MUTYH rs3219489 1:45331833:C:G 1 45331833 C G 1:45797505 0.994585 0.226167 19100 63991 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Habitual aborter 8.56e-05 -0.5052 0.1286 Open wound of lower leg 0.0009348 0.204 0.062 MUTYH rs34612342 1:45332803:T:C 1 45332803 T C 1:45798475 0.988073 615 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Causalgia 0.000391 8.1507 2.2983 MUTYH rs3219484 1:45334484:C:T 1 45334484 C T 1:45800156 0.999568 0.079235 2298 26812 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;MYH-associated polyposis;not provided;not specified Dependent personality disorder 4.6e-05 0.6218 0.1526 0.0002099 1.403 0.378 MUTYH rs2275602 1:45340208:G:A 1 45340208 G A 1:45805880 0.99932 2608 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary cancer-predisposing syndrome;not specified Melanocytic naevi of lip 0.00185 3.1649 1.0166 Abnormal involuntary movements 0.0005403 13.545 3.915 TOE1 rs754389983 1:45341124:C:T 1 45341124 C T 1:45806796 0.983082 0.0014154 0 520 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizoid personality disorder 4.46e-05 5.3249 1.3044 AKR1A1 rs61751012 1:45566635:G:A 1 45566635 G A 1:46032307 0.996918 0.0088789 24 3238 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Post-traumatic stress disorder 1.08e-05 1.3442 0.3054 Other vitreous opacities 0.0001069 29.124 7.517 POMGNT1 rs74374973 1:46189973:C:T 1 46189973 C T 1:46655645 0.995981 0.0128175 74 4635 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Muscle eye brain disease;not provided;not specified Gastric ulcer 7.42e-07 0.706 0.1426 Redundant prepuce, phimosis and paraphimosis 0.002171 2.273 0.741 POMGNT1 rs138642840 1:46192097:C:T 1 46192097 C T 1:46657769 0.995887 902 LC recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Crohn disease ( strict definition, require KELA, min 2 HDR) 0.00111 2.3066 0.7075 POMGNT1 rs146097254 1:46192423:G:A 1 46192423 G A 1:46658095 0.998607 0.0150685 88 5448 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Muscular Dystrophy, alpha-dystroglycan related;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Limb-girdle muscular dystrophy-dystroglycanopathy, type C3;Muscle eye brain disease;not provided;not specified Care involving use of rehabilitation procedures 8.12e-05 0.2602 0.066 Other congenital malformations of ear 9.445e-05 29.473 7.549 POMGNT1 rs2292487 1:46194623:T:C 1 46194623 T C 1:46660295 0.999877 87822 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dermatitis and eczema 0.00178 -0.04 0.0128 Dermatitis and eczema 0.0007335 -0.041 0.012 POMGNT1 rs150576537 1:46196784:C:T 1 46196784 C T 1:46662456 0.981038 282 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Melanocytic naevi (other cancers excluded from controls) 0.000114 2.1645 0.561 POMGNT1 rs200042607 1:46196819:C:T 1 46196819 C T 1:46662491 0.844153 265 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of the musculoskeletal system, not elsewhere classified 0.000239 15.6334 4.255 POMGNT1 rs201637813 1:46197815:C:A 1 46197815 C A 1:46663487 0.999717 267 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm 0.000131 0.6753 0.1765 LURAP1 rs62620990 1:46220120:A:G 1 46220120 A G 1:46685792 0.995532 10221 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Corneal ulcer 0.000501 0.3343 0.0961 Mesothelioma 0.001232 9.836 3.044 LRRC41 rs77417631 1:46285776:G:A 1 46285776 G A 1:46751448 0.9763 0.00745533 18 2721 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of nerves at wrist and hand level 6.26e-05 1.8534 0.463 Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.001428 8.438 2.646 FAAH rs324420 1:46405089:C:A 1 46405089 C A 1:46870761 0.999873 74504 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Malignant neoplasm of eye, brain and central nervous system 0.000263 0.1694 0.0464 Routine general health check-up of defined subpopulation 0.0001226 0.578 0.151 CYP4B1 rs45463299 1:46814282:C:T 1 46814282 C T 1:47279954 0.90723 600 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nephrotic syndrome 0.000666 4.0337 1.1852 Coronary atherosclerosis 0.0004257 4.636 1.316 CYP4B1 rs3215983 1:46815074:GAT:G 1 46815074 GAT G 1:47280746 0.999835 46371 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebral palsy 0.000157 0.5215 0.1379 Lesion of sciatic nerve 0.0002296 0.547 0.148 CYP4Z1 rs146391078 1:47094635:G:A 1 47094635 G A 1:47560307 0.988587 3674 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhage, not elsewhere classified 0.00166 1.428 0.4542 Other and unspecified disorders of psychological development 0.0002953 238.26 65.828 STIL rs144746030 1:47251422:G:A 1 47251422 G A 1:47717094 0.997932 2591 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Hypermobility syndrome 0.000191 1.4709 0.3942 Other and unspecified local infections of skin and subcutaneous tissue 0.000137 25.24 6.619 STIL rs13376679 1:47260415:T:C 1 47260415 T C 1:47726087 0.999084 0.24745 22546 68364 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of ankle and foot 5.07e-05 -0.2019 0.0498 Female genital prolapse 1.043e-05 0.131 0.03 STIL rs148193936 1:47260463:T:C 1 47260463 T C 1:47726135 0.983596 196 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of arteries, arterioles and capillaries 0.000174 1.2596 0.3355 Other specified/unspecified disorders of bone/cartilage 0.001171 68.879 21.221 STIL rs149185431 1:47282457:G:A 1 47282457 G A 1:47748129 0.828316 220 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiac arrhytmias, COPD co-morbidities 0.000121 -0.8911 0.2318 STIL rs3125630 1:47302242:G:A 1 47302242 G A 1:47767914 0.99997 0.375461 52304 85636 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of ankle and foot 3.84e-05 -0.1824 0.0443 Type 1 diabetes, strict definition, subgroup 1 0.0004399 0.134 0.038 FOXE3 rs552420470 1:47417213:A:G 1 47417213 A G 1:47882885 0.971982 5438 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Right bundle-branch block 0.00113 1.1745 0.3607 Osteopathies and chondropathies 0.0003236 2.242 0.624 FOXE3 rs571095192 1:47417244:G:A 1 47417244 G A 1:47882916 0.985163 0.00130924 0 481 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schizoid personality disorder 7.72e-05 5.9783 1.5124 FOXD2 rs78469326 1:47438328:G:A 1 47438328 G A 1:47904000 0.996897 0.0520403 1000 18119 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations of skin 4.3e-05 0.631 0.1542 Glomerular disorders in diseases classified elsewhere 0.0007971 1.014 0.302 ELAVL4 rs116391279 1:50145095:G:A 1 50145095 G A 1:50610767 0.99477 1141 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Cardiomyopathies, Primary/intrinsic 0.000202 1.3074 0.3518 Other and unspecified degenerative diseases of nervous system 0.0003426 197.726 55.219 CC2D1B rs141717834 1:52356220:G:A 1 52356220 G A 1:52821892 0.954413 0.00165765 4 605 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonia due to other infectious organisms, not elsewhere classified 3.83e-05 7.4022 1.7978 ORC1 rs34521609 1:52373320:A:G 1 52373320 A G 1:52838992 0.997981 13382 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Meier-Gorlin syndrome;not specified Vitreous bleeding (caused by prolif. dmrp when together with H36.03*) 0.000676 0.3959 0.1165 Meralgia paraesthetica 0.0004962 3.817 1.096 ORC1 rs61753389 1:52374887:C:T 1 52374887 C T 1:52840559 0.988186 5903 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Meier-Gorlin syndrome;Meier-Gorlin syndrome 1;not specified Malignant neoplasm of corpus uteri (other cancers excluded from controls) 0.000146 0.7744 0.2039 Other and unspecified immunodeficiencies with predominantly antibody defects 0.0002453 21.919 5.977 ORC1 rs3087481 1:52385936:G:A 1 52385936 G A 1:52851608 0.973287 226 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Left bundle-branch block 0.000577 7.6319 2.2173 ORC1 rs3087476 1:52389289:G:A 1 52389289 G A 1:52854961 0.987878 0.0127005 78 4588 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Rectum 8.63e-05 0.6527 0.1662 Toxic effect of ethanol 0.0009996 10.498 3.19 ORC1 rs61753390 1:52393719:G:A 1 52393719 G A 1:52859391 0.982842 6715 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Meier-Gorlin syndrome;not specified Disorders of brain, other and unspecified 0.000128 2.317 0.6049 Hypertension complicating pregnancy, childbirth, and the puerperium 0.0003657 1.169 0.328 ORC1 rs3087473 1:52402167:C:G 1 52402167 C G 1:52867839 0.959892 1219 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Meier-Gorlin syndrome;not provided;not specified Urehtritis and urethral syndrome 0.000597 3.3669 0.9807 0.000314 216.772 60.156 ZCCHC11 rs12127732 1:52475173:C:A 1 52475173 C A 1:52940845 0.98367 1193 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinal stenosis 0.000137 0.6403 0.1679 0.002014 2.736 0.886 COA7 rs12134752 1:52692831:C:T 1 52692831 C T 1:53158503 0.991662 1615 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of iron metabolism 0.0014 4.2542 1.3321 Leiomyoma of uterus 0 3.481 0 SCP2 rs144132787 1:52978368:G:T 1 52978368 G T 1:53444040 0.986231 0.000508999 2 185 pLoF recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Other menopausal disorders 7.2e-05 6.1508 1.5495 CPT2 rs28936375 1:53197092:C:A 1 53197092 C A 1:53662764 0.943302 761 missense_variant both Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arthritis;Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, infantile;Carnitine palmitoyltransferase II deficiency, lethal neonatal;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;Chronic pain;Dysautonomia;Encephalopathy, acute, infection-induced, 4, susceptibility to;Gastrointestinal dysmotility;Inappropriate sinus tachycardia;Pancytopenia;Polyarticular arthritis;Sinus tachycardia;not provided Allergic purpura 0.000185 3.885 1.0391 0.0004208 142.896 40.519 CPT2 rs144658100 1:53210699:T:C 1 53210699 T C 1:53676371 0.989128 0.00219659 0 807 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other nutritional anaemias 6.83e-05 8.7704 2.2023 CPT2 rs1799821 1:53210776:G:A 1 53210776 G A 1:53676448 0.995193 91409 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vitreous body 0.000559 -0.0694 0.0201 Disorders of vitreous body 0.0001704 -0.06 0.016 CPT2 rs17848485 1:53211308:A:C 1 53211308 A C 1:53676980 0.989374 724 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency, infantile;not provided Benign neoplasm of ovary 0.00126 1.1172 0.3463 Chronic lower respiratory diseases 0 3.44 0 CPT2 rs1799822 1:53213557:A:G 1 53213557 A G 1:53679229 0.999424 43939 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pericarditis 0.00087 0.354 0.1063 Pain in limb 0.000381 0.146 0.041 LRP8 rs5174 1:53247055:C:T 1 53247055 C T 1:53712727 0.996647 88763 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Adverse effects, not elsewhere classified 0.000222 0.1156 0.0313 0.0004636 0.116 0.033 GLIS1 rs139516969 1:53594436:A:G 1 53594436 A G 1:54060109 0.937865 438 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to unspecified part of trunk, limb or body region 0.000586 3.3004 0.96 GLIS1 rs143379552 1:53594755:C:T 1 53594755 C T 1:54060428 0.984698 3621 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alopecia areata 0.00153 1.6634 0.525 0.001735 -0.95 0.303 FAM151A rs41297135 1:54609426:G:C 1 54609426 G C 1:55075099 0.979261 788 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of intestine 0.00115 6.0206 1.8524 FAM151A rs373739034 1:54610464:CCACTCCACATTCAGACCGTCATCCCCAGG:C 1 54610464 CCACTCCACATTCAGACCGTCATCCCCAGG C 1:55076137 0.975519 0.087771 2946 29300 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 6.74e-25 -0.1782 0.0173 Statin medication 0.0005772 -0.132 0.038 FAM151A rs142814457 1:54616168:G:C 1 54616168 G C 1:55081841 0.95725 503 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Brachial plexus disorders 0.000206 3.2044 0.8633 FAM151A rs17399297 1:54619975:C:T 1 54619975 C T 1:55085648 0.913099 0.00112687 2 412 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other contact dermatitis 1.79e-05 3.696 0.8615 PARS2 rs35201073 1:54758071:G:C 1 54758071 G C 1:55223744 0.87912 108 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Respiratory disorders in diseases classified elsewhere 0.00116 25.0021 7.6974 Sequelae of cerebrovascular disease 6.035e-06 6.533 1.444 PARS2 rs2270004 1:54758458:T:C 1 54758458 T C 1:55224131 0.998612 56966 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otitis externa, unspecified 0.00039 0.2097 0.0591 Diseases of external ear 9.121e-06 0.2 0.045 PARS2 rs11577368 1:54759078:C:A 1 54759078 C A 1:55224751 0.998692 56954 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otitis externa, unspecified 0.00038 0.2101 0.0591 Diseases of external ear 8.782e-06 0.201 0.045 PARS2 rs116816976 1:54759100:A:C 1 54759100 A C 1:55224773 0.990908 0.0699342 1982 23711 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Statin medication 3.61e-29 -0.2142 0.0191 Statin medication 3.746e-06 -0.212 0.046 BSND rs200246335 1:55007033:G:C 1 55007033 G C 1:55472706 0.987851 282 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malnutrition 0.000387 14.834 4.1803 All-cause Heart Failure 5.942e-05 2.458 0.612 PCSK9 rs11591147 1:55039974:G:T 1 55039974 G T 1:55505647 0.997581 0.0362532 510 12809 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, 3;Hypocholesterolemia;Low density lipoprotein cholesterol level quantitative trait locus 1;not specified Statin medication 5.26e-119 -0.6135 0.0264 Statin medication 2.95e-10 -0.577 0.092 PCSK9 rs11583680 1:55039995:C:T 1 55039995 C T 1:55505668 0.995708 32675 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypercholesterolemia;Familial hypobetalipoproteinemia;Hypercholesterolemia, autosomal dominant, 3;not specified Long labour 0.000385 0.1767 0.0498 Desensitization to allergens 4.407e-05 1.021 0.25 PCSK9 rs540796 1:55058524:A:G 1 55058524 A G 1:55524197 0.999587 0.830493 253606 51507 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 3.26e-33 0.1553 0.0129 Statin medication 1.509e-29 0.084 0.007 PCSK9 rs562556 1:55058564:G:A 1 55058564 G A 1:55524237 0.99985 0.83046 253582 51519 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 3.98e-33 0.1551 0.0129 Statin medication 1.604e-29 0.084 0.007 PCSK9 rs505151 1:55063514:G:A 1 55063514 G A 1:55529187 0.999713 0.94953 331322 17524 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 3.68e-06 -0.1025 0.0221 Statin medication 7.141e-07 -0.057 0.012 USP24 rs186427081 1:55177985:T:C 1 55177985 T C 1:55643658 0.983327 0.00193801 0 712 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Granulomatous disorders of skin and subcutaneous tissue 4.48e-05 5.6851 1.393 PRKAA2 rs145987132 1:56692379:C:T 1 56692379 C T 1:57158052 0.946223 1562 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Presence of cardiac and vascular implants and grafts 0.000161 0.6184 0.1639 Injury of nerves and spinal cord at neck level 0.000525 132.988 38.351 C1orf168 rs139281548 1:56744234:C:A 1 56744234 C A 1:57209907 0.968864 471 pLoF unknown not provided not_provided no assertion provided none Pregnancy, childbirth and the puerperium 0.000143 -0.5162 0.1357 C8A rs652785 1:56875054:C:A 1 56875054 C A 1:57340727 0.996785 83824 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute upper respiratory infections of multiple and unspecified sites 0.00128 -0.0433 0.0134 Acute upper respiratory infections of multiple and unspecified sites 0.001568 -0.044 0.014 C8A rs150404785 1:56876130:G:A 1 56876130 G A 1:57341803 0.977964 666 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of lipoprotein metabolism and other lipidaemias 0.00195 -0.5599 0.1808 C8A rs147513844 1:56886031:G:T 1 56886031 G T 1:57351704 0.861666 57 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcer of oesophagus 0.000349 13.239 3.7026 C8A rs143908758 1:56908064:G:A 1 56908064 G A 1:57373737 0.963409 1990 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Systemic lupus erythematosus, unspecified 0.000387 2.2541 0.6352 Melanocytic naevi of trunk (other cancers excluded from controls) 3.23e-05 37.8 9.094 C8A rs1620075 1:56912476:G:T 1 56912476 G T 1:57378149 0.998116 14637 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Skin of scalp and neck 0.000553 0.7891 0.2285 Keratoconus 0.0004378 3.961 1.126 C8A rs1342440 1:56917642:G:C 1 56917642 G C 1:57383315 0.998968 14655 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Skin of scalp and neck 0.000564 0.7869 0.2282 Keratoconus 0.0004376 3.961 1.126 C8B rs61737417 1:56929555:G:A 1 56929555 G A 1:57395228 0.963437 1096 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormal products of conception 0.000454 0.7741 0.2208 C8B rs41286844 1:56940965:G:A 1 56940965 G A 1:57406638 0.974986 285 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beningn neoplasm: Meninges, unspecified 0.000328 14.3233 3.9877 C8B rs139498867 1:56943786:C:A 1 56943786 C A 1:57409459 0.963383 1477 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Prurigo nodularis 0.00014 3.9105 1.0269 Congenital deformities of feet 0.00135 62.278 19.431 OMA1 rs77980955 1:58530648:C:A 1 58530648 C A 1:58996320 0.991441 986 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic subdural haemorrhage 0.000379 1.6024 0.4509 OMA1 rs75129043 1:58534181:T:C 1 58534181 T C 1:58999853 0.995617 773 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cramp and spasm 0.00025 3.5086 0.958 TACSTD2 rs14008 1:58576509:G:T 1 58576509 G T 1:59042181 0.999647 19033 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal Dystrophy, Dominant/Recessive Sequelae of injuries of upper limb 0.000574 0.3349 0.0973 Use of antiglaucoma preparations and miotics 0.001251 1.124 0.348 TACSTD2 rs35075952 1:58576639:T:G 1 58576639 T G 1:59042311 0.997679 0.0772589 2316 26068 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal Dystrophy, Dominant/Recessive Dermatographic urticaria 6.66e-05 -0.4354 0.1092 Any death 0.0001669 0.255 0.068 TACSTD2 rs1062964 1:58576716:C:G 1 58576716 C G 1:59042388 0.999577 12168 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal Dystrophy, Dominant/Recessive Non-invasive ventilation 0.000384 0.7467 0.2103 0.0003181 7.158 1.988 L1TD1 rs202029696 1:62210575:GAACT:G 1 62210575 GAACT G 1:62676247 0.967167 2007 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of nerves at wrist and hand level 0.000147 2.1047 0.5544 Malignant neoplasm of eye and adnexa 0.0009278 81.086 24.486 KANK4 rs145623004 1:62263230:A:G 1 62263230 A G 1:62728902 0.9753 383 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria not provided Injury of muscle and tendon at forearm level 0.00266 6.7202 2.2368 Female infertility, associated with anovulation 0.001547 55.313 17.473 KANK4 rs568600301 1:62268285:AC:A 1 62268285 AC A 1:62733957 0.888083 598 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter malignant neoplasm of male genital organs (other cancers excluded from controls) 0.000194 0.9935 0.2666 ANGPTL3 rs72649573 1:62597945:C:T 1 62597945 C T 1:63063616 0.972119 4794 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Anoxic brain damage 0.000735 2.2584 0.6689 Perioral dermatitis 7.158e-05 36.269 9.134 DOCK7 rs72913293 1:62619959:T:C 1 62619959 T C 1:63085630 0.985988 2758 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 23;not provided;not specified Acquired haemolytic anaemia 0.000743 2.262 0.6706 Other and unspecified abdominal hernia 9.025e-05 30.501 7.79 ALG6 rs35383149 1:63406361:T:C 1 63406361 T C 1:63872032 0.998173 15283 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation type 1C;not specified Polymyalgia rheumatica 0.000496 0.3769 0.1082 Cholesteatoma of middle ear 2.261e-05 2.642 0.623 ALG6 rs4630153 1:63415881:C:T 1 63415881 C T 1:63881552 0.996867 81191 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary retinal dystrophy 0.000949 -0.3975 0.1203 Other diseases of arteries and capillaries 0.0002015 -0.116 0.031 ALG6 rs41285372 1:63436853:C:G 1 63436853 C G 1:63902524 0.998234 4932 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation type 1C;not specified Other problems related to primary support group, including family circumstances 0.00161 0.5059 0.1604 Dissocial personality disorder 0.0001004 30.951 7.957 PGM1 rs77043134 1:63623761:G:A 1 63623761 G A 1:64089432 0.9929 0.00931168 46 3375 pLoF recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided malignant neoplasm of female genital organs 4.13e-05 0.5881 0.1434 0.001528 3.612 1.14 PGM1 rs855314 1:63629440:A:G 1 63629440 A G 1:64095111 0.994494 41311 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Angina pectoris 0.000419 0.0793 0.0225 Primary angle-closure glaucoma 0.0007731 0.661 0.197 PGM1 rs1126728 1:63631761:C:T 1 63631761 C T 1:64097432 0.99836 69653 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal epilepsy 0.000553 0.2086 0.0604 Focal epilepsy 2.837e-05 0.322 0.077 PGM1 rs11208257 1:63648630:T:C 1 63648630 T C 1:64114301 0.999951 78282 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Haemorrhage, not elsewhere classified 0.000168 -0.3508 0.0932 Persons encountering health services for specific procedures, not carried out 0.0002962 0.293 0.081 PGM1 rs150266274 1:63651788:C:A 1 63651788 C A 1:64117459 0.995726 4427 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1t Other degenerative diseases of the nervous system 0.000365 0.3582 0.1005 Burn and corrosion of ankle and foot 8.275e-05 32.976 8.377 JAK1 rs61735631 1:64855641:G:A 1 64855641 G A 1:65321324 0.956341 0.0005961 2 217 missense_variant unknown not provided not_provided no assertion provided none Complications of surgical and medical care, not elsewhere classified 3.92e-05 1.1624 0.2827 DNAJC6 rs200712827 1:65386855:A:G 1 65386855 A G 1:65852538 0.900487 56 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Viral infections of the central nervous system 0.000467 11.9127 3.4045 LEPR rs1137100 1:65570758:A:G 1 65570758 A G 1:66036441 0.997832 0.363561 48796 84772 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Interstitial lung disease 6.65e-05 0.1581 0.0396 ILD related to systemic autoimmune disease 7.004e-05 0.349 0.088 LEPR rs1137101 1:65592830:A:G 1 65592830 A G 1:66058513 0.99993 0.595694 131042 87809 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperlipidaemia, other/unspecified 4.06e-05 0.1023 0.0249 Hyperlipidaemia, other/unspecified 4.655e-05 0.074 0.018 LEPR rs1805094 1:65610269:G:C 1 65610269 G C 1:66075952 0.999941 38633 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Panniculitis, unspecified 0.000183 0.8139 0.2175 Extreme obesity with alveolar hypoventilation 0.0004705 0.947 0.271 C1orf141 rs200104842 1:67093186:CTCATT:C 1 67093186 CTCATT C 1:67558869 0.981069 2267 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD, hospital admissions 3, with pneumonia sepsis 0.000581 1.3617 0.3958 Alzheimer's disease (Late onset) (more controls excluded) 0.0001061 2.914 0.752 IL23R rs11209026 1:67240275:G:A 1 67240275 G A 1:67705958 0.998806 0.0462835 888 16116 missense_variant unknown protective protective no assertion criteria provided no_Criteria Inflammatory bowel disease 17, protection against;Psoriasis, protection against IBD patients in KELA-register 1.01e-08 -0.3837 0.067 Chronic pancreatitis 0.0003275 1.178 0.328 CTH rs28941785 1:70415987:C:T 1 70415987 C T 1:70881670 0.989311 1657 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Cystathioninuria;not provided Postpartum care and examination 0.000566 0.8612 0.2498 Deviated nasal septum 0.000318 5.832 1.62 CTH rs1021737 1:70439117:G:T 1 70439117 G T 1:70904800 0.998526 75969 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of hip and thigh 0.000266 0.3277 0.0899 Cardiomyopathy, Hypertrophic obstructive 0.001412 0.363 0.114 PTGER3 rs568967213 1:70952978:TG:T 1 70952978 TG T 1:71418661 0.973594 3126 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital deformities of hip 0.000215 2.825 0.7633 Carcinoma in situ of breast, intraductal 3.46e-05 12.704 3.068 NEGR1 rs142674139 1:72282401:G:C 1 72282401 G C 1:72748084 0.984477 2950 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 0.00227 0.6579 0.2156 Ascites 0.000583 19.352 5.627 ACADM rs147559466 1:75732652:G:A 1 75732652 G A 1:76198337 0.996182 0.00313837 4 1149 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Medium-chain acyl-coenzyme A dehydrogenase deficiency;not provided Retinoschisis and retinal cysts 3.1e-06 6.0521 1.2977 Disorders of the thyroid gland 0 4.301 0 ACADM rs78392995 1:75740000:T:G 1 75740000 T G 1:76205685 0.871247 119 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of white blood cells 0.000147 10.6398 2.8023 ACADM rs77931234 1:75761161:A:G 1 75761161 A G 1:76226846 0.988373 631 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Perichondritis of external ear 0.000133 7.659 2.0047 AK5 rs77198824 1:77558660:C:CTAT 1 77558660 C CTAT 1:78024345 0.998628 77253 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Giant cell arteritis 0.00156 0.2762 0.0873 Bacterial meningitis 0.001238 0.154 0.048 NEXN rs1166698 1:77926761:G:A 1 77926761 G A 1:78392446 0.995022 51927 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes with ophthalmic complications 0.000233 -0.1585 0.0431 Other juvenile arthritis 0.0002411 0.537 0.146 PTGFR rs41292960 1:78492766:A:T 1 78492766 A T 1:78958451 0.963999 363 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic suppurative otitis media 0.000162 5.5729 1.4773 ADGRL2 rs141619218 1:81952012:A:G 1 81952012 A G 1:82417696 0.943554 1465 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of testis (other cancers excluded from controls) 0.00157 3.0883 0.9767 Giant cell arteritis 5.751e-05 37.171 9.24 WDR63 rs148724953 1:85071948:C:G 1 85071948 C G 1:85537631 0.940898 2140 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other CVD 0.000141 0.9488 0.2493 Social disorders starting during childhood or adolecense 0.0005812 743.661 216.164 WDR63 rs138379333 1:85093522:G:A 1 85093522 G A 1:85559205 0.983672 750 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple myeloma and malignant plasma cell neoplasms (other cancers excluded from controls) 0.000183 3.6781 0.9832 Guillain-Barre syndrome 0.0004644 161.543 46.148 SYDE2 rs200884011 1:85190219:C:T 1 85190219 C T 1:85655902 0.992219 1579 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Anus and anal canal 0.000678 2.5619 0.7538 Kela-cod for severe mental illness 0.0002068 7.296 1.966 BCL10 rs3768235 1:85267691:C:T 1 85267691 C T 1:85733374 0.994986 17533 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hypertrophy of breast 0.00037 0.2824 0.0793 Other infective otitis externa 0.0003477 1.645 0.46 BCL10 rs12037217 1:85276340:C:A 1 85276340 C A 1:85742023 0.99342 2623 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 37 Asthma/COPD-related acute respiratory infections 0.00102 -0.1776 0.0541 Other acute viral hepatitis 0.0009236 91.789 27.707 CYR61 rs148330006 1:85582843:C:G 1 85582843 C G 1:86048526 0.980953 1581 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other behavioural and emotional disorders with onset usually occuring in childhood and adolescence 0.000172 1.9385 0.516 Hypertensive diseases (excluding secondary) 0 3.571 0 ODF2L rs144381853 1:86358813:T:C 1 86358813 T C 1:86824496 0.851685 152 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma, hospital admissions , main diagnosis only 0.000121 1.3408 0.3488 Other peripheral vertigo 0.003845 25.448 8.804 ZNF644 rs140271599 1:90937874:C:T 1 90937874 C T 1:91403431 0.987423 1356 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute lymphadenitis 0.000226 1.7461 0.4734 Panic disorder 0.0001788 16.31 4.353 ZNF644 rs12117237 1:90939235:T:C 1 90939235 T C 1:91404792 0.987759 2168 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy, childbirth and the puerperium 0.000287 -0.2321 0.064 Diseases of the eye and adnexa 0.001334 1.321 0.412 HFM1 rs143399622 1:91343457:C:T 1 91343457 C T 1:91809014 0.929287 283 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arthritis (FG) 0.000968 1.5752 0.4774 TGFBR3 rs2228363 1:91698089:G:A 1 91698089 G A 1:92163646 0.915322 0.00449389 12 1639 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thoracic aortic aneurysm and aortic dissection Sleep apnoea 4.72e-05 -0.4593 0.1129 Certain zoonotic bacterial diseases 0.0008338 87.901 26.307 TGFBR3 rs17882828 1:91698125:C:G 1 91698125 C G 1:92163682 0.967633 1257 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectropion of eyelid 0.00189 2.3916 0.7698 Burn and corrosion confined to eye and adnexa 0.001085 75.388 23.072 TGFBR3 rs41286789 1:91734880:T:C 1 91734880 T C 1:92200437 0.970135 1778 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of conjunctiva 0.00117 0.3116 0.096 Degeneration of nervous system due to alcohol 0.0008946 91.541 27.558 TGFBR3 rs147586574 1:91861477:T:C 1 91861477 T C 1:92327034 0.992929 9939 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thoracic aortic aneurysm and aortic dissection Certain infectious and parasitic diseases 0.000722 0.0803 0.0238 Benign neoplasm: Choroid (other cancers excluded from controls) 0.001342 4.375 1.364 GLMN rs61754623 1:92289110:C:T 1 92289110 C T 1:92754667 0.982654 862 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Extreme obesity with alveolar hypoventilation 0.0017 3.2305 1.0292 GFI1 rs149914857 1:92481068:G:C 1 92481068 G C 1:92946625 0.985249 490 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Sigmoid colon 0.00017 2.0521 0.5458 GFI1 rs34631763 1:92483381:C:T 1 92483381 C T 1:92948938 0.99286 19418 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Severe congenital neutropenia;Severe congenital neutropenia 2, autosomal dominant;not specified Mental disorders, not otherwise specified 0.000696 -0.3369 0.0993 Schizophrenia 0.0008572 0.694 0.208 EVI5 rs11808092 1:92607671:C:A 1 92607671 C A 1:93073228 0.998644 66737 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhage from respiratory passages 0.000264 0.0979 0.0268 Other bursal cyst 0.0001345 0.734 0.192 EVI5 rs2391199 1:92695345:T:C 1 92695345 T C 1:93160902 0.999973 37418 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Any mental disorder, or suicide (or attempt), or psychic disorders complicating pregnancy, partum or puerperum or nerve system disorders 0.000173 -0.0535 0.0142 Other disorders starting during childhood or adolecense 0.0002924 -0.197 0.054 RPL5 rs11540832 1:92837557:A:G 1 92837557 A G 1:93303114 0.954235 1410 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diamond-Blackfan anemia;not provided;not specified Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 0.00048 0.9899 0.2835 Otitis externa, unspecified 0.001018 79.813 24.292 ABCA4 rs6666652 1:93996161:C:A 1 93996161 C A 1:94461717 0.972806 2990 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;not provided;not specified Abnormal blood-pressure reading, without diagnosis 0.000126 1.9848 0.5178 Special screening examination for neoplasms 0.0003047 15.987 4.427 ABCA4 rs1800555 1:93998061:C:T 1 93998061 C T 1:94463617 0.994614 0.0424265 750 14837 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;not provided;not specified Dizziness and giddiness 8.69e-05 -0.1355 0.0345 Disturbances of skin sensation 0.0006183 0.793 0.232 ABCA4 rs41292677 1:94001992:C:G 1 94001992 C G 1:94467548 0.928488 105 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Disorders of lacrimal system and orbit in diseases classified elsewhere 0.00187 15.38 4.9455 ABCA4 rs28938473 1:94007731:G:A 1 94007731 G A 1:94473287 0.980492 679 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Strabismus 0.000172 1.1122 0.2961 ABCA4 rs1800553 1:94008251:C:T 1 94008251 C T 1:94473807 0.995645 700 missense_variant both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter ABCA4-Related Disorders;Age-related macular degeneration 2;Cone-rod dystrophy 3;Inborn genetic diseases;MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO;Macular dystrophy;Retinal dystrophy;Stargardt disease 1;not provided Persons encountering health services for examination and investigation 0.000218 0.2915 0.0788 Additional codes for the location of defect, injury or illness 0.001036 81.791 24.932 ABCA4 rs56142141 1:94008290:G:A 1 94008290 G A 1:94473846 0.988076 19328 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;not provided;not specified Inflammation of lacrimal passages (acute and unspecified) 0.000451 0.8953 0.2552 Myocardial infarction 0.0001428 0.455 0.12 ABCA4 rs1800552 1:94010821:C:T 1 94010821 C T 1:94476377 0.99492 865 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Alcohol related diseases, tilastokeskus definition, death only 0.000773 2.284 0.6793 ABCA4 rs1801466 1:94010911:T:A 1 94010911 T A 1:94476467 0.990706 15115 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;Stargardt disease 1;not provided;not specified Chorioretinal inflammation 0.000448 0.7368 0.2099 Genitourinary diseases 0.0006532 -0.192 0.056 ABCA4 rs113106943 1:94021848:C:T 1 94021848 C T 1:94487404 0.992825 632 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Cone-Rod Dystrophy, Recessive;Cone/cone-rod dystrophy;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;Stargardt disease 1;not provided Unspecified diabetes 0.00151 1.1099 0.3498 Chronic conjunctivitis 0.0004605 164.42 46.941 ABCA4 rs1762111 1:94021934:A:G 1 94021934 A G 1:94487490 0.98646 627 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl ABCA4-Related Disorders;Cone-Rod Dystrophy, Recessive;Retinal dystrophy;Retinitis Pigmentosa, Recessive;Stargardt disease 1;not provided Melanocytic naevi of trunk 0.000771 2.0418 0.6071 Hypothyroidism (congenital or acquired) 3.366e-05 2.437 0.588 ABCA4 rs56357060 1:94030483:C:T 1 94030483 C T 1:94496039 0.978006 263 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Medication related adverse effects (Asthma/COPD) 0.000586 0.6562 0.1909 ABCA4 rs1800549 1:94030497:G:A 1 94030497 G A 1:94496053 0.997235 347 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;not provided;not specified Carcinoma in situ of skin of other and unspecified parts of face (other cancers excluded from controls) 0.000143 7.303 1.9201 Malignant neoplasm of rectosigmoid junction 0.0004569 157.594 44.965 ABCA4 rs61751374 1:94043413:G:A 1 94043413 G A 1:94508969 0.988036 1673 missense_variant both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Age-related macular degeneration 2;Cone-rod dystrophy 3;Cone-rod dystrophy 3;Cone-rod dystrophy 3;Retinal dystrophy;Retinitis pigmentosa 19;Stargardt disease 1;Stargardt disease 1;Stargardt disease 1;not provided Atrophic disorders of skin 0.000277 1.2008 0.3303 0 3.733 0 ABCA4 rs1801581 1:94047009:C:T 1 94047009 C T 1:94512565 0.995008 0.0354911 500 12539 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;Stargardt disease 1;not provided;not specified Malignant neoplasm of bladder 4.82e-05 0.53 0.1304 Other ILD-related CVD-co-morbidities 0.0009027 0.919 0.277 ABCA4 rs61754030 1:94048910:T:C 1 94048910 T C 1:94514466 0.963122 230 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Connective and other soft tissue of lower limb, including hip 0.000364 9.4813 2.6595 ABCA4 rs76157638 1:94051698:C:G 1 94051698 C G 1:94517254 0.987331 746 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Other disorders of the genitourinary system 0.000356 1.7392 0.4871 ABCA4 rs145525174 1:94063218:C:T 1 94063218 C T 1:94528774 0.985986 1098 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;Stargardt disease 1;not provided;not specified Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs 0.000523 1.7375 0.5009 Benign neoplasm: Other/unspecified site 0.000411 184.411 52.198 ABCA4 rs61751392 1:94063250:A:G 1 94063250 A G 1:94528806 0.986873 249 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Disorders of sclera, cornea, iris and ciliary body 0.000222 1.317 0.3567 ABCA4 rs61752395 1:94063262:C:T 1 94063262 C T 1:94528818 0.994816 3919 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;not provided;not specified Injuries to the abdomen, lower back, lumbar spine and pelvis 0.000164 0.3892 0.1032 Arterial embolism and thrombosis of lower extremity artery 0.0001791 23.126 6.172 ABCA4 rs1800548 1:94077833:C:T 1 94077833 C T 1:94543389 0.986857 347 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Presence of other devices 0.000207 1.87 0.5041 ABCA4 rs3112831 1:94078678:T:C 1 94078678 T C 1:94544234 0.999045 70377 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hepatic failure, not elsewhere classified 0.000491 0.3164 0.0908 Hepatic failure, not elsewhere classified 0.0002451 0.426 0.116 ABCA4 rs6657239 1:94098927:C:T 1 94098927 C T 1:94564483 0.99216 20961 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;not provided;not specified Persons with potential health hazards related to communicable diseases 0.000594 0.2728 0.0794 0.002648 0.511 0.17 ABCA4 rs62646862 1:94103130:C:T 1 94103130 C T 1:94568686 0.995835 345 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Autoimmune thyroiditis 0.00027 9.0186 2.4757 ABCA4 rs201150919 1:94108702:T:A 1 94108702 T A 1:94574258 0.998837 3199 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;Macular degeneration;Retinitis Pigmentosa, Recessive;Stargardt Disease, Recessive;Stargardt disease 1 Other disorders of conjunctiva 0.00156 0.6523 0.2062 Schizotypal disorder 0.002666 36.526 12.16 ARHGAP29 rs41311172 1:94179812:C:T 1 94179812 C T 1:94645368 0.998694 1139 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sensorineural hearing loss 0.00137 0.3955 0.1236 Other bursitis of knee 0.0003795 193.084 54.33 ABCD3 rs142075958 1:94464782:G:T 1 94464782 G T 1:94930338 0.989405 10749 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of corpus uteri (other cancers excluded from controls) 0.000102 0.572 0.1472 Other inflammation of vagina/vulva 0.0001868 3.425 0.917 ALG14 rs139521179 1:95072786:C:A 1 95072786 C A 1:95538342 0.95964 176 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Peroneal tendinitis 0.000874 22.7511 6.8356 ALG14 rs34364382 1:95072868:C:T 1 95072868 C T 1:95538424 0.976123 3156 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 15;not provided;not specified Other acquired deformities of musculoskeletal system and connective tissue 0.000164 1.4357 0.3809 Coronary angiopasty 0.0004824 2.917 0.836 DPYD rs67376798 1:97082391:T:A 1 97082391 T A 1:97547947 0.976235 0.000528052 2 192 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Alzheimer's disease (Early onset) 8.93e-05 8.7846 2.2421 DPYD rs1801160 1:97305364:C:T 1 97305364 C T 1:97770920 0.99927 0.0263863 256 9438 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dihydropyrimidine dehydrogenase deficiency;not provided;not specified Seborrhoeic dermatitis 2.46e-05 0.6314 0.1497 Benign neoplasm: Colon, unspecified 0.001471 1.389 0.437 DPYD rs145548112 1:97306195:C:T 1 97306195 C T 1:97771751 0.998845 208 missense_variant recessive not provided not_provided no assertion provided none Other disorders of bladder 0.00106 3.5757 1.0925 DPYD rs3918290 1:97450058:C:T 1 97450058 C T 1:97915614 0.996765 0.020447 146 7366 pLoF recessive drug response drug response reviewed by expert panel Criteria_multSubmitter 2-3 toe syndactyly;Abnormal aggressive, impulsive or violent behavior;Aggressive behavior;Autistic disorder of childhood onset;Bulbous nose;Clinodactyly of the 5th toe;Coarse facial features;Cognitive impairment;Dihydropyrimidine dehydrogenase deficiency;Fluorouracil response;Frontal bossing;Global developmental delay;Hallux valgus;Hirschsprung disease 1;Intellectual disability;Intellectual disability, profound;Macroglossia;Mandibular prognathia;Profound global developmental delay;Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK;Seizures;Short toe;Shortening of all phalanges of fingers;Slit-like opening of the exterior auditory meatus;Thick lower lip vermilion;Widely spaced teeth;capecitabine response - Toxicity/ADR, Metabolism/PK;fluorouracil response - Toxicity/ADR, Metabolism/PK;not provided;tegafur response - Toxicity/ADR, Metabolism/PK Neurological diseases 3.34e-05 -0.1093 0.0264 Acute and transient psychotic disorders 0.0002487 2.056 0.561 DPYD rs1801159 1:97515839:T:C 1 97515839 T C 1:97981395 0.999524 0.162885 9896 49946 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes with ketoacidosis 6.81e-05 0.246 0.0618 Polyneuropathies and other disorders of the peripheral nervous system 0.00141 0.209 0.065 DPYD rs1801158 1:97515865:C:T 1 97515865 C T 1:97981421 0.991037 4774 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dihydropyrimidine dehydrogenase deficiency;not provided;not specified Dislocation, sprain and strain of joints and ligaments of elbow 0.000223 0.9691 0.2626 Superficial injury of ankle and foot 0.0004999 6.08 1.747 DPYD rs45589337 1:97679170:T:C 1 97679170 T C 1:98144726 0.995622 3828 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Fracture of rib(s), sternum and thoracic spine 0.000389 0.4519 0.1274 Malignant neoplasm of corpus uteri 0.001457 8.362 2.627 DPYD rs2297595 1:97699535:T:C 1 97699535 T C 1:98165091 0.999593 51717 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of intra-abdominal organs 0.000249 0.4334 0.1183 Erectile dysfunction 8.834e-05 0.407 0.104 SNX7 rs35391040 1:98695628:C:A 1 98695628 C A 1:99161184 0.985665 4205 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glomerulonephritis 0.0021 -0.3699 0.1203 Presence of cardiac and vascular implants and grafts 0.001727 1.461 0.466 AGL rs2307130 1:99851033:A:G 1 99851033 A G 1:100316589 0.999271 90624 LC recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of bronchus and lung 0.000108 -0.1509 0.039 Benign neoplasm: Adrenal gland 0.000264 0.205 0.056 AGL rs17121403 1:99870421:A:G 1 99870421 A G 1:100335977 0.9998 2960 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease type III;not provided;not specified Cervicobrachial syndrome 0.000678 0.5621 0.1654 3.651e-05 1.611 0.39 AGL rs28730701 1:99875226:G:T 1 99875226 G T 1:100340782 0.995598 12297 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease type III;not provided;not specified Aplastic and other anaemias 0.000542 0.2016 0.0583 Purpura and other haemorrhagic conditions 0.0001342 1.939 0.508 AGL rs17121464 1:99875231:G:A 1 99875231 G A 1:100340787 0.990332 3528 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease type III;not provided;not specified Other extrapyramidal and movement disorders+ in other diseases 0.00154 0.5919 0.1869 Dissocial personality disorder 0.00276 35.672 11.917 AGL rs141043166 1:99877698:G:A 1 99877698 G A 1:100343254 0.998707 9862 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glycogen storage disease type III;not provided;not specified Personality disorders (more controls excluded) 0.000161 -0.3038 0.0805 Episcleritis 0.0003134 4.334 1.203 AGL rs149210307 1:99884201:A:G 1 99884201 A G 1:100349757 0.958555 0.000530774 8 187 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glycogen storage disease type III;not provided Exfoliative dermatitis 7.34e-06 27.9028 6.2233 Benign neoplasm: Skin of scalp and neck 0.000754 108.362 32.163 AGL rs150441555 1:99884427:C:T 1 99884427 C T 1:100349983 0.9132 0.000280358 0 103 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified trigeminal disorders 5.48e-05 25.3572 6.2858 AGL rs200129247 1:99891682:C:T 1 99891682 C T 1:100357238 0.924756 391 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other peripheral vascular diseases 0.000216 3.6838 0.9959 AGL rs3753494 1:99892547:C:T 1 99892547 C T 1:100358103 0.994977 51892 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified and unspecified personality disorders 0.000319 -0.1798 0.05 Effects of other external causes 0.000365 0.733 0.206 AGL rs2230307 1:99896369:G:A 1 99896369 G A 1:100361925 0.994857 23529 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease type III;not provided;not specified Nontoxic multinodular goitre 0.000624 -0.1925 0.0563 Other specified/unspecified inflammatory spondylopathies 0.000361 1.434 0.402 AGL rs2230308 1:99900704:T:A 1 99900704 T A 1:100366260 0.977222 766 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Haemorrhage in early pregnancy 0.000685 1.1952 0.352 AGL rs12043139 1:99910769:G:A 1 99910769 G A 1:100376325 0.996145 0.00506549 18 1843 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease type III;not specified Melanocytic naevi of upper limb, including shoulder 2.81e-05 3.8772 0.9258 Retinal breaks without detachment 0.0002559 18.631 5.096 SASS6 rs151151974 1:100103058:G:C 1 100103058 G C 1:100568614 0.995954 0.00131196 2 480 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Short bones of lower limb 6.22e-05 13.7905 3.444 SASS6 rs77741912 1:100110385:C:G 1 100110385 C G 1:100575941 0.953558 344 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Salphingitis and oophoritis 0.000916 1.8138 0.5471 DBT rs75525811 1:100196286:T:C 1 100196286 T C 1:100661842 0.98084 644 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unsepcified mononeuropathies, also in other diseases 0.000257 4.2928 1.1743 DBT rs12021720 1:100206504:T:C 1 100206504 T C 1:100672060 0.999777 24398 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Other and unspecified parts of small intestine (other cancers excluded from controls) 0.000166 -0.6399 0.1699 Benign neoplasm: Other and unspecified parts of small intestine (other cancers excluded from controls) 6.317e-05 -0.37 0.092 DBT rs146249007 1:100216031:A:G 1 100216031 A G 1:100681587 0.999967 3996 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maple syrup urine disease;not provided;not specified Non-invasive ventilation 0.00104 1.3175 0.4017 Other menopausal disorders 0.0001739 20.575 5.481 CDC14A rs140849467 1:100484404:A:G 1 100484404 A G 1:100949960 0.974169 1251 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Keratitis 0.000896 -0.6472 0.1949 Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 4.922e-06 13.145 2.878 CDC14A rs113885721 1:100499111:A:G 1 100499111 A G 1:100964667 0.97179 1300 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other and unspecified abdominal hernia 0.000199 2.8225 0.7588 Thyrotoxicosis with toxic multinodular goitre 0.001226 56.188 17.381 CDC14A rs61752469 1:100499218:G:A 1 100499218 G A 1:100964774 0.983713 6119 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Malignant neoplasm of digestive organs (other cancers excluded from controls) 0.00055 -0.3017 0.0873 Other specified/unspecified necrotizing vasculopathies 0.000285 19.268 5.31 COL11A1 rs139064549 1:102888579:G:C 1 102888579 G C 1:103354135 0.998053 3940 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fibrochondrogenesis;Marshall syndrome;Stickler Syndrome, Dominant;not provided;not specified ILD, hospital admissions 1, main diag only 0.000318 0.7292 0.2025 Abnormal involuntary movements 2.635e-05 7.865 1.871 COL11A1 rs1676486 1:102888582:A:G 1 102888582 A G 1:103354138 0.997624 0.849083 265200 46743 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 8.28e-06 0.103 0.0231 Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 1.235e-06 0.064 0.013 COL11A1 rs55821405 1:102889503:G:T 1 102889503 G T 1:103355059 0.988193 0.00138818 0 510 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fracture of forearm 4.73e-05 1.0027 0.2465 COL11A1 rs3753841 1:102914362:G:A 1 102914362 G A 1:103379918 0.997115 0.657934 159210 82507 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deviated nasal septum 1.93e-05 0.0936 0.0219 Other reactioin to severe stress, and adjustment disorders 0.0003746 0.05 0.014 COL11A1 rs375675171 1:102935079:A:G 1 102935079 A G 1:103400635 0.891092 0.000206866 0 76 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Vulvovaginal ulceration/inflammation in other diseases 1.17e-05 19.2453 4.3908 COL11A1 rs78046647 1:102962756:G:T 1 102962756 G T 1:103428312 0.976569 261 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Anxious personality disorder 0.000367 14.4227 4.0478 COL11A1 rs141548164 1:102979414:A:T 1 102979414 A T 1:103444970 0.991279 1412 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fibrochondrogenesis;Marshall syndrome;Stickler Syndrome, Dominant;not provided;not specified Acute appendicitis, with complications 0.000994 0.7028 0.2135 Anoxic brain damage 0.0005401 138.967 40.163 COL11A1 rs144884147 1:103022966:C:G 1 103022966 C G 1:103488522 0.992897 459 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fracture of forearm 0.00109 0.8144 0.2493 COL11A1 rs12731843 1:103025905:T:G 1 103025905 T G 1:103491461 0.999598 0.0948779 3428 31429 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the digestive system and abdomen 1.54e-05 0.058 0.0134 Other CVD 0.0001098 0.522 0.135 COL11A1 rs143159512 1:103082940:A:T 1 103082940 A T 1:103548496 0.968734 2791 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diaphragmatic hernia 0.000929 0.4203 0.1269 Other aneurysm 0.001512 17.581 5.542 COL11A1 rs11164663 1:103082941:A:C 1 103082941 A C 1:103548497 0.993225 21627 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fibrochondrogenesis;Marshall syndrome;Stickler Syndrome, Dominant;not specified ILD differential diagnosis 0.000583 -0.0498 0.0145 Dislocation, sprain and strain of joints and ligaments of knee 2.01e-05 0.355 0.083 VAV3 rs138170759 1:107964797:A:G 1 107964797 A G 1:108507419 0.982726 468 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in other circumstances 0.000433 1.2551 0.3567 PRPF38B rs111751551 1:108699434:G:A 1 108699434 G A 1:109242056 0.962387 952 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension 0.000136 0.3733 0.0978 Subacute thyroiditis 0.0003043 215.169 59.577 GPSM2 rs41279678 1:108897593:G:A 1 108897593 G A 1:109440215 0.997664 38611 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melanocytic naevi of eyelid, including canthus (other cancers excluded from controls) 0.000462 0.79 0.2256 Tuberculosis 0.0006718 0.504 0.148 GPSM2 rs190381417 1:108901825:G:A 1 108901825 G A 1:109444447 0.962325 0.0166609 126 5995 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postpartum haemorrhage 3.7e-05 0.4762 0.1154 Myeloproliferative diseases (CML excluded) 9.165e-06 10.32 2.326 GPSM2 rs61754640 1:108904128:G:A 1 108904128 G A 1:109446750 0.979534 0.0239747 248 8560 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Synovial hypertrophy, not elsewhere classified 1.57e-05 2.261 0.5235 Shoulder lesions 8.928e-05 0.75 0.192 GPSM2 rs35089879 1:108918719:C:T 1 108918719 C T 1:109461341 0.978698 948 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Hernia 0.000481 0.3821 0.1094 Glaucoma secondary to other eye disorders 0.001971 46.882 15.149 GPSM2 rs35029887 1:108922543:ACTT:A 1 108922543 ACTT A 1:109465165 0.998855 78246 inframe_indel recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other enthesopathies 0.0013 -0.0772 0.024 0.001292 -0.141 0.044 GPSM2 rs191870755 1:108924030:C:T 1 108924030 C T 1:109466652 0.993853 1582 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Polyuria 0.00044 0.7743 0.2203 Disorders of lacrimal system and orbit in diseases classified elsewhere 0.0008541 98.222 29.455 GPSM2 rs705268 1:108924236:G:A 1 108924236 G A 1:109466858 0.998323 71925 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other enthesopathies 0.000731 -0.0845 0.025 0.000216 -0.186 0.05 SARS rs140717526 1:109236451:G:A 1 109236451 G A 1:109779073 0.966343 1421 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Certain zoonotic bacterial diseases 0.000607 3.5594 1.0381 CELSR2 rs144034706 1:109250113:A:ACGC 1 109250113 A ACGC 1:109792735 0.989209 79554 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Delirium, not induced by alcohol and other psychoactive substances 0.000371 -0.1813 0.0509 Statin medication 0.0001167 0.027 0.007 CELSR2 rs62623708 1:109250455:C:A 1 109250455 C A 1:109793077 0.961657 0.00108332 4 394 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adhesive capsulitis of shoulder 7.61e-05 2.103 0.5315 Specific development disorders of speech and language 5.892e-05 1070.534 266.495 CELSR2 rs41279706 1:109251971:C:T 1 109251971 C T 1:109794593 0.959598 789 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Volume depletion 0.00104 2.1057 0.642 CELSR2 rs115856488 1:109253120:T:A 1 109253120 T A 1:109795742 0.926402 0.00148889 2 545 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasms 6.23e-05 -0.4495 0.1123 CELSR2 rs138543788 1:109258921:A:G 1 109258921 A G 1:109801543 0.945113 1933 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other medical care 0.00011 0.8377 0.2166 Other inflammatory liver diseases 0.0001136 26.883 6.965 CELSR2 rs148006855 1:109268900:G:A 1 109268900 G A 1:109811522 0.901887 161 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rheumatic valve diseases 0.000623 12.8968 3.7693 CELSR2 rs628525 1:109271269:G:A 1 109271269 G A 1:109813891 0.995662 0.00201694 2 739 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormalities of plasma proteins 6.72e-05 8.7952 2.2064 SORT1 rs2228605 1:109342050:C:A 1 109342050 C A 1:109884672 0.961902 216 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of amniotic fluid and membranes 0.00158 3.2878 1.0406 GNAT2 rs41280330 1:109608722:C:T 1 109608722 C T 1:110151344 0.966148 1410 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Achromatopsia;not specified Pruritus 0.00272 1.1603 0.3871 Abnormal findings on diagnostic imaging of breast 0.001523 63.041 19.885 GNAT2 rs3738766 1:109608773:G:T 1 109608773 G T 1:110151395 0.99925 0.0395495 640 13890 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Achromatopsia;not specified Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 3.64e-05 0.9123 0.2209 Melanocytic naevi of lip 0.0001948 8.634 2.318 GSTM5 rs113130058 1:109717418:A:G 1 109717418 A G 1:110260040 0.994884 6625 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Total colectomy operation 0.00027 1.0435 0.2865 Convalescence 0.0005472 5.985 1.731 SLC6A17 rs148377467 1:110172197:A:G 1 110172197 A G 1:110714819 0.991927 0.00228641 4 836 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic lymphocytic leukaemia 1.56e-06 8.0999 1.6864 Other cataract 8.389e-05 4.497 1.143 SLC6A17 rs41313405 1:110198296:A:G 1 110198296 A G 1:110740918 0.973837 9800 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Alcohol dependence 0.000279 0.2472 0.068 Other problems related to primary support group, including family circumstances 3.054e-05 2.44 0.585 CEPT1 rs146158422 1:111159398:A:G 1 111159398 A G 1:111702020 0.989925 5045 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other heart diseases 0.000292 -0.1301 0.0359 Cardiovascular diseases (excluding rheumatic etc) 0.0001149 -1.068 0.277 CHI3L2 rs13721 1:111241360:C:T 1 111241360 C T 1:111783982 0.994829 30952 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 0.00272 -0.0631 0.0211 Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 0.0005947 -0.15 0.044 CHIA rs182022651 1:111312303:G:A 1 111312303 G A 1:111854925 0.993649 595 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to alcohol, excluding acute intoxication 0.000108 0.8581 0.2217 0 9.446 0 OVGP1 rs61741118 1:111414879:CTCACAGACTGATGACTCACAGGGG:C 1 111414879 CTCACAGACTGATGACTCACAGGGG C 1:111957501 0.991187 82357 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to certain psychosocial circumstances 0.00203 -0.1371 0.0444 Other noninfective gastroenteritis and colitis 0.0003365 -0.108 0.03 OVGP1 rs12096782 1:111414925:GGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA:G 1 111414925 GGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA G 1:111957547 0.993157 76779 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to certain psychosocial circumstances 0.00228 -0.14 0.0459 Disorders of thyroid, IBD co-morbidities 0.001043 -0.105 0.032 ST7L rs114199731 1:112616842:T:A 1 112616842 T A 1:113159464 0.983177 0.0127767 56 4638 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other contact dermatitis 9.01e-05 0.8179 0.2089 Acute sinusitis 7.804e-05 2.331 0.59 MOV10 rs151095542 1:112698089:G:A 1 112698089 G A 1:113240711 0.985637 1031 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Other/unspecified site (other cancers excluded from controls) 0.000952 4.6674 1.4125 Other osteochondropathies 0.002214 40.558 13.255 SLC16A1 rs1049434 1:112913924:A:T 1 112913924 A T 1:113456546 0.999979 0.578146 122744 89660 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular diseases (excluding rheumatic etc) 1.08e-06 0.0426 0.0087 Cardiovascular diseases (excluding rheumatic etc) 1.74e-05 0.028 0.006 PTPN22 rs72650671 1:113838292:G:T 1 113838292 G T 1:114380914 0.985166 0.00245789 4 899 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of wrist and hand 8.03e-05 0.8343 0.2116 Malignant neoplasm of lip, oral cavity and pharynx 0.0003067 215.29 59.644 AP4B1 rs114734921 1:113895826:T:C 1 113895826 T C 1:114438448 0.92834 994 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hirsutism 0.000877 4.7817 1.4371 AP4B1 rs1217401 1:113896329:A:G 1 113896329 A G 1:114438951 0.999948 0.276362 28032 73500 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism, drug reimbursement 8.88e-07 -0.129 0.0262 AV-block 9.587e-05 0.188 0.048 AP4B1 rs141417436 1:113900263:A:G 1 113900263 A G 1:114442885 0.985314 0.000661426 0 243 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Transient ischemic attack 3.92e-05 1.6694 0.406 AP4B1 rs773497515 1:113900335:C:T 1 113900335 C T 1:114442957 0.813425 108 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other diseases of pleura 0.00189 2.0508 0.6599 BCAS2 rs62621917 1:114581582:T:C 1 114581582 T C 1:115124203 0.96312 0.00531046 16 1935 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inguinal or femoral hernia, bilateral 7.75e-05 1.3138 0.3324 Acidosis 0.001084 81.868 25.054 AMPD1 rs150645738 1:114674831:C:T 1 114674831 C T 1:115217452 0.98254 796 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inflammatory disorders of male genital organs, not elsewhere classified 0.000733 6.808 2.0159 AMPD1 rs140181682 1:114675639:A:T 1 114675639 A T 1:115218260 0.957799 247 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other hammer toe(s) (acquired) 0.000624 1.9213 0.5616 AMPD1 rs61752478 1:114678495:C:A 1 114678495 C A 1:115221116 0.995915 315 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Meniscus derangement 0.000707 0.8613 0.2543 AMPD1 rs34526199 1:114679616:T:A 1 114679616 T A 1:115222237 0.998371 26742 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Muscle AMP deaminase deficiency;not provided Migraine 0.000151 0.1303 0.0344 Isolated proteinuria 0.0006572 1.45 0.426 AMPD1 rs142582318 1:114684234:C:T 1 114684234 C T 1:115226855 0.982447 1515 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Motor neuron disease 0.000466 4.1421 1.1836 AMPD1 rs61752479 1:114688633:G:A 1 114688633 G A 1:115231254 0.998702 38351 missense_variant recessive Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of white blood cells 0.000115 -0.3814 0.0989 Secondary polycythaemia 0.002085 1.225 0.398 AMPD1 rs17602729 1:114693436:G:A 1 114693436 G A 1:115236057 0.999572 0.118474 5276 38250 pLoF recessive Uncertain significance, other VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of white blood cells 8.81e-05 -0.3881 0.099 Secondary polycythaemia 0.0008666 1.368 0.411 SYCP1 rs146221635 1:114857466:A:G 1 114857466 A G 1:115400087 0.990822 337 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Iliotibial band syndrome 0.000306 14.7903 4.0968 TSHB rs10776792 1:115033402:A:G 1 115033402 A G 1:115576023 0.99845 18437 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other inflammation of vagina/vulva 0.000271 -0.5715 0.1569 Other inflammation of vagina/vulva 0.001011 -0.267 0.081 NGF rs11466111 1:115286557:C:T 1 115286557 C T 1:115829178 0.993371 4512 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital sensory neuropathy with selective loss of small myelinated fibers;not provided Hypertension, essential 0.000155 0.1833 0.0484 Amenorrhoea 0.0006073 5.108 1.49 NGF rs6330 1:115286692:G:A 1 115286692 G A 1:115829313 0.994121 91409 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.000113 -0.0684 0.0177 1.282e-06 0.053 0.011 VANGL1 rs4839469 1:115663802:G:A 1 115663802 G A 1:116206423 0.99399 39990 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebral aneurysm, nonruptured 0.000101 -0.3223 0.0829 Disorders of synovium and tendon 0.00223 -0.144 0.047 CASQ2 rs28730713 1:115702950:G:A 1 115702950 G A 1:116245571 0.944577 373 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contracture of joint 0.000168 10.2134 2.7147 CASQ2 rs200643387 1:115705257:C:A 1 115705257 C A 1:116247878 0.995086 1033 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Catecholaminergic polymorphic ventricular tachycardia;not specified Meniscus derangement 0.000313 0.5108 0.1417 Examination and observation for other reasons 0 5.545 0 CASQ2 rs146333579 1:115738275:T:C 1 115738275 T C 1:116280896 0.990316 321 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deforming dorsopathies 0.00042 1.6811 0.4767 CASQ2 rs10801999 1:115768316:C:T 1 115768316 C T 1:116310937 0.997903 8305 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;Ventricular tachycardia, catecholaminergic polymorphic, 2;not specified Atrial fibrillation and flutter 0.000482 -0.1873 0.0537 Inflammatory diseases of prostate (prostatitis) 0.002241 2.333 0.763 CASQ2 rs4074536 1:115768346:T:C 1 115768346 T C 1:116310967 0.999853 71955 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other overlap syndromes 0.000782 0.3996 0.119 Other overlap syndromes 0.0001622 0.578 0.153 IGSF3 rs647711 1:116579666:G:C 1 116579666 G C 1:117122288 0.988922 91295 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and unspecified sites 0.000581 -0.2619 0.0761 Benign neoplasm of other and unspecified sites (other cancers excluded from controls) 0.0008956 -0.216 0.065 IGSF3 rs41301291 1:116584795:C:T 1 116584795 C T 1:117127417 0.988973 11030 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Systemic lupus erythematosus, unspecified 0.000674 0.7928 0.2332 Other and unspecified coagulation defects 0.0007477 3.369 0.999 PTGFRN rs142424201 1:116944985:A:G 1 116944985 A G 1:117487607 0.98586 2745 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of other and unspecified substances 0.000915 2.7429 0.8273 Contraceptive management 0.0002403 3.785 1.031 CD101 rs116063197 1:117018408:G:A 1 117018408 G A 1:117561030 0.9666 0.0018999 0 698 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of urinary system 7.7e-05 0.5237 0.1324 TTF2 rs139705346 1:117076740:G:A 1 117076740 G A 1:117619362 0.972818 1691 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other mental disorders due to brain damage and dysfunction and to physical disease 0.000304 1.2223 0.3384 Injury of muscle and tendon at shoulder and upper arm level 0.0005715 11.567 3.358 TTF2 rs41306197 1:117092779:G:A 1 117092779 G A 1:117635401 0.946382 593 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medication related adverse effects (Asthma/COPD) 0.00016 0.4915 0.1302 Intermittent heterotropia 0.0004331 142.381 40.46 FAM46C rs1630312 1:117623069:C:G 1 117623069 C G 1:118165691 0.801458 13914 missense_variant unknown not provided not_provided no assertion provided none not specified Mouth breathing 0.00112 -0.191 0.0586 Substance use, excluding alcohol 0.0007134 1.216 0.359 FAM46C rs77871185 1:117623709:A:G 1 117623709 A G 1:118166331 0.993841 0.003974 16 1444 missense_variant unknown not provided not_provided no assertion provided none not specified Prolonged pregnancy 2.26e-05 1.4832 0.35 Benign neoplasm: Short bones of upper limb 3.569e-06 132.261 28.535 FAM46C rs149654076 1:117623757:G:A 1 117623757 G A 1:118166379 0.994265 1843 missense_variant unknown not provided not_provided no assertion provided none not specified Functional dyspepsia 0.000772 0.5693 0.1693 Follow-up examination after treatment for conditions other than malignant neoplasms 0.000771 3.537 1.052 FAM46C rs145471785 1:117623763:G:A 1 117623763 G A 1:118166385 0.981343 2410 missense_variant unknown not provided not_provided no assertion provided none not specified Urethral stricture 0.000155 1.582 0.4182 Chronic pancreatitis 0.0008392 10.734 3.214 SPAG17 rs140959339 1:118115327:G:A 1 118115327 G A 1:118657950 0.987123 184 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lactose intolerance 0.000223 9.984 2.7047 Lactose intolerance 0.0003917 191.917 54.128 TBX15 rs61730011 1:118884844:A:C 1 118884844 A C 1:119427467 0.986254 7718 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anisometropia and aniseikonia 0.00045 1.0952 0.3121 0.001302 4.43 1.378 WARS2 rs150022801 1:119042327:T:C 1 119042327 T C 1:119584950 0.971109 243 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments at neck level 0.000541 3.0125 0.8708 WARS2 rs139548132 1:119140608:A:C 1 119140608 A C 1:119683231 0.929576 342 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Other embolism and thrombosis 0.000492 2.6363 0.7564 PHGDH rs201298102 1:119740425:A:T 1 119740425 A T 1:120283048 0.977133 1721 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Specific developmental disorder of motor function 0.000482 3.2637 0.935 Oedema, not elsewhere classified 0.000288 6.339 1.748 HMGCS2 rs144744634 1:119768772:G:C 1 119768772 G C 1:120311395 0.978323 692 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;not specified Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 0.00129 2.2042 0.6852 Obsessive-compulsive disorder 0.001401 61.89 19.374 NOTCH2 rs35586704 1:119915499:A:T 1 119915499 A T 1:120458122 0.995934 866 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lesion of plantar nerve 0.00025 2.0837 0.569 NOTCH2 rs75831573 1:119915647:G:C 1 119915647 G C 1:120458270 0.971482 3330 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hajdu-Cheney syndrome;not specified Kela-code for behavioural disturbances in mental retardation 0.00025 3.4986 0.9553 Carcinoid syndrome 5.698e-05 39.551 9.826 NOTCH2 rs60854092 1:119922384:T:A 1 119922384 T A 1:120465007 0.990621 501 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other obstetric trauma 0.00112 3.5333 1.0845 NOTCH2 rs17024517 1:119922639:C:T 1 119922639 C T 1:120465262 0.981962 1052 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hajdu-Cheney syndrome;not specified Other congenital malformations of ear 0.000152 5.7114 1.508 Other congenital malformations of ear 0.00138 52.345 16.364 NOTCH2 rs61752484 1:119926524:T:C 1 119926524 T C 1:120469147 0.955005 0.002447 4 895 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hajdu-Cheney syndrome;not specified Foreign body in respiratory tract 6.3e-05 3.0827 0.7704 Chronic tubulo-interstitial nephritis 0.001057 96.868 29.578 NOTCH2 rs138832326 1:119929116:C:T 1 119929116 C T 1:120471739 0.997463 5677 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Patellar tendinitis 0.000305 1.8611 0.5154 Injury of muscle and tendon at wrist and hand level 0.001079 4.653 1.423 NOTCH2 rs147223770 1:119935502:A:C 1 119935502 A C 1:120478125 0.993344 0.00798611 30 2904 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hajdu-Cheney syndrome;not provided;not specified Strabismus 4.54e-07 0.7267 0.144 Dementia due to Parkinsons disease 0.0001588 22.864 6.054 NOTCH2 rs143195893 1:120005472:C:A 1 120005472 C A 1:120548095 0.963945 11206 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oedema, not elsewhere classified 0.000977 -0.2542 0.0771 Alergic contact dermatitis 0.0001114 1.812 0.469 FMO5 rs56134376 1:147201163:T:C 1 147201163 T C 1:146672745 0.906083 267 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other secondary coxarthrosis 0.000438 8.5557 2.4335 FMO5 rs58351438 1:147212527:T:C 1 147212527 T C 1:146684095 0.987986 0.00205777 4 752 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and specified injuries of hip and thigh 5.17e-05 7.7822 1.9226 Other and specified injuries of hip and thigh 0.0005398 143.442 41.455 ACP6 rs140566115 1:147654322:G:A 1 147654322 G A 1:147126437 0.987238 3119 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Mental and behavioural disorders due to use of other stimulants, including caffeine 0.00045 1.5855 0.4518 Other and unspcified rosacea 0.0008413 11.395 3.413 GJA5 rs144069395 1:147759226:T:C 1 147759226 T C 1:147231334 0.993382 609 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other localized connective tissue disorders 0.000834 6.5833 1.9702 GJA8 rs142415337 1:147908340:G:A 1 147908340 G A 1:147380467 0.964467 0.00107516 2 393 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Maternal care related to the fetus and amniotic cavity and possible delivery problems 8.21e-05 0.8241 0.2093 GJA8 rs138140155 1:147908613:A:G 1 147908613 A G 1:147380740 0.991672 1127 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular diseases (excluding rheumatic etc) 0.000219 0.2874 0.0778 GJA8 rs80358202 1:147908696:T:G 1 147908696 T G 1:147380823 0.98206 4611 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cataract 1;Zonular Pulverulent Cataract Antepartum haemorrhage, not elsewhere classified 0.00128 0.7095 0.2203 Benign neoplasm of middle ear and respiratory system (other cancers excluded from controls) 0.0001776 8.725 2.327 FCGR1A rs74315310 1:149784224:C:T 1 149784224 C T 1:149755780 0.966542 0.000939062 0 345 pLoF unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Statin medication 7.93e-05 -0.6392 0.162 TARS2 rs140418026 1:150491443:C:A 1 150491443 C A 1:150463919 0.997066 4176 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Atrial fibrillation and flutter 0.00091 -0.2542 0.0766 Superficial injury of thorax 0.0009962 4.762 1.447 TARS2 rs115390773 1:150497543:A:G 1 150497543 A G 1:150470019 0.974662 3720 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Unspecified chronic bronchitis 0.000197 1.5417 0.4141 Hypertensive diseases (excluding secondary) 0.0001329 -1.076 0.282 TARS2 rs115720584 1:150497585:C:T 1 150497585 C T 1:150470061 0.967066 5741 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other symptoms and signs involving the circulatory and respiratory systems 0.000465 0.9384 0.2681 Cystic kidney disease 0.0006731 12.564 3.695 ECM1 rs145971597 1:150509669:G:A 1 150509669 G A 1:150482145 0.980719 3370 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Stenosis and insufficiency of lacrimal passages 0.000286 0.8785 0.2422 Enlarged lymph nodes 6.841e-05 12.385 3.11 ECM1 rs151102225 1:150512368:A:T 1 150512368 A T 1:150484844 0.984876 2298 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Benign neoplasm: Choroid 0.000524 1.7421 0.5023 Small cell lung cancer 0.0009596 88.101 26.68 ADAMTSL4 rs41317513 1:150552949:G:A 1 150552949 G A 1:150525425 0.976421 8806 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectopia lentis Other encephalitis 0.000204 1.1638 0.3134 Encephalitis 0.0001471 8.634 2.275 ADAMTSL4 rs41317515 1:150553568:G:C 1 150553568 G C 1:150526044 0.979834 85428 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fourth [trochlear] nerve palsy 0.000175 -0.3976 0.106 Other encephalitis 0.0004598 -0.229 0.065 ADAMTSL4 rs1332904568 1:150553749:CCAGAGCCCAGGCCTCTGGCA:C 1 150553749 CCAGAGCCCAGGCCTCTGGCA C 1:150526225 0.918417 0.00128475 2 470 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other endocrine disorders 6.84e-06 5.258 1.1688 ADAMTSL4 rs41317517 1:150553794:C:T 1 150553794 C T 1:150526270 0.982664 4136 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing spondylitis, strict definition 0.000516 1.1925 0.3434 Additional codes for the location of defect, injury or illness 0.0007526 12.09 3.588 ADAMTSL4 rs1471249348 1:150553815:TCCGTGCATCCC:T 1 150553815 TCCGTGCATCCC T 1:150526291 0.97672 260 pLoF recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Other maternal disorders predominantly related to pregnancy 0.000132 1.1097 0.2904 Dislocation of lens 0.0006031 113.508 33.091 ADAMTSL4 rs76075180 1:150553917:G:A 1 150553917 G A 1:150526393 0.943857 289 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary oedema 0.00208 11.6203 3.775 ADAMTSL4 rs56055939 1:150558055:C:G 1 150558055 C G 1:150530531 0.986268 0.0183757 116 6635 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ectopia lentis Colectomy operation 8.18e-05 -0.5619 0.1427 Benign neoplasm: Connective and other soft tissue of lower limb, including hip 0.0006621 12.971 3.81 ADAMTSL4 rs56228576 1:150558072:C:G 1 150558072 C G 1:150530548 0.951149 13328 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectopia lentis Diverticular disease of intestine 0.000325 -0.1474 0.041 Antenatal screening 0.0001143 0.536 0.139 ADAMTSL4 rs150225445 1:150559429:C:A 1 150559429 C A 1:150531905 0.979502 4785 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Bullous pemphigoid 0.00038 2.132 0.6 Symptoms and signs involving the circulatory and respiratory systems 0.005366 -0.496 0.178 ADAMTSL4 rs147697821 1:150560150:G:A 1 150560150 G A 1:150532626 0.965264 0.00041101 2 149 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of ovary 9.07e-05 8.1324 2.0776 ARNT rs1805133 1:150817408:C:T 1 150817408 C T 1:150789884 0.96011 2153 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed conductive and sensorineural hearing loss 0.000215 0.9761 0.2638 Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.0001922 47.37 12.703 SETDB1 rs113110991 1:150960992:C:T 1 150960992 C T 1:150933468 0.940932 461 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of bladder (other cancers excluded from controls) 0.00105 2.8749 0.8773 SEMA6C rs35817752 1:151142531:G:A 1 151142531 G A 1:151115007 0.992873 0.0051907 22 1885 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corns and callosities 7.78e-05 1.5773 0.3992 Other extrapyramidal and movement disorders+ in other diseases 0.00102 13.385 4.075 ZNF687 rs112780836 1:151286637:G:A 1 151286637 G A 1:151259113 0.95425 532 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obesity, other/unspecified 0.00122 1.1566 0.3576 RFX5 rs150072792 1:151342349:G:A 1 151342349 G A 1:151314825 0.998087 755 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Foreign body in alimentary tract 0.000867 2.7461 0.8246 RFX5 rs2233854 1:151342811:G:C 1 151342811 G C 1:151315287 0.982844 0.133042 6694 42184 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic diseases of tonsils and adenoids 2.49e-05 -0.0746 0.0177 Gonarthrosis [arthrosis of knee](FG) 6.406e-05 0.135 0.034 RFX5 rs146341254 1:151343145:C:T 1 151343145 C T 1:151315621 0.992239 213 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other general symptoms and signs 0.000461 7.6982 2.198 RFX5 rs2233851 1:151343848:C:T 1 151343848 C T 1:151316324 0.992481 3802 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bare lymphocyte syndrome 2 Leiomyoma of uterus 0.000272 0.2468 0.0678 Mycoses 0.0005271 3.598 1.038 RFX5 rs748270285 1:151344848:C:T 1 151344848 C T 1:151317324 0.947607 350 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Colon, unspecified (other cancers excluded from controls) 0.000219 2.0288 0.549 SELENBP1 rs72710112 1:151365227:C:T 1 151365227 C T 1:151337703 0.984894 473 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperlipidaemia, other/unspecified 0.00036 1.4225 0.3987 POGZ rs149655055 1:151405172:G:A 1 151405172 G A 1:151377648 0.954396 183 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Connective and other soft tissue of head, face and neck 0.000393 13.529 3.8169 POGZ rs141251585 1:151406366:G:A 1 151406366 G A 1:151378842 0.99328 282 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified injuries of head 0.000796 6.7221 2.0042 CGN rs140625740 1:151519198:C:T 1 151519198 C T 1:151491674 0.981879 1612 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Convergent concomitant strabismus 0.000903 1.4101 0.4248 Disturbances of smell and taste 0.001617 49.695 15.762 CGN rs142913144 1:151525667:G:A 1 151525667 G A 1:151498143 0.99164 5243 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gestational [pregnancy-induced] hypertension 0.00151 -0.4514 0.1422 Adrenocortical insufficiency 0.0004735 15.057 4.308 CGN rs41272459 1:151530113:G:A 1 151530113 G A 1:151502589 0.975526 6254 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing spondylitis, strict definition 0.00054 0.9493 0.2744 Other specified/unsepecified deforming dorsopathies 0.0009593 10.913 3.305 SNX27 rs567208173 1:151612258:T:TGGC 1 151612258 T TGGC 1:151584734 0.983091 0.0161818 110 5835 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Severe myoclonic epilepsy in infancy Any mental disorder, or suicide (or attempt), or psychic disorders complicating pregnancy, partum or puerperum or nerve system disorders 9.13e-05 0.1416 0.0362 Benign neoplasm: Skin of lower limb, including hip 0.000736 12.53 3.712 SNX27 rs61762678 1:151665993:G:A 1 151665993 G A 1:151638469 0.992686 3586 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Severe myoclonic epilepsy in infancy Rash and other nonspecific skin eruption 0.00385 0.5923 0.2049 Toxic effect of contact with venomous animals 0.0005421 14.059 4.064 SNX27 rs138859961 1:151683362:G:C 1 151683362 G C 1:151655838 0.998212 1992 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Severe myoclonic epilepsy in infancy Injury of intra-abdominal organs 0.00121 2.2696 0.7011 0.0009047 1.227 0.37 LINGO4 rs151205204 1:151801854:G:A 1 151801854 G A 1:151774330 0.989675 6259 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Polymicrogyria Single delivery by forceps and vacuum extractor 0.000223 0.4363 0.1182 Benign neoplasm: Connective and other soft tissue of lower limb, including hip (other cancers excluded from controls) 0.0005826 13.948 4.055 RORC rs200531029 1:151807623:T:C 1 151807623 T C 1:151780099 0.990079 14412 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 0.000127 0.0942 0.0246 Respiratory conditions due to other external agents 3.446e-05 7.77 1.876 RORC rs17582155 1:151831737:G:A 1 151831737 G A 1:151804213 0.98143 529 pLoF recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Kidney (other cancers excluded from controls) 0.000509 5.4585 1.5704 THEM4 rs114800758 1:151895052:C:T 1 151895052 C T 1:151867528 0.993094 5796 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of binocular movement 0.000623 1.3029 0.3808 Disorders of synovium and tendon 0.001423 1.196 0.375 RPTN rs1371696061 1:152156589:GTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA:G 1 152156589 GTGGTGGGAATCTCTGTCTTGTTTCTCAGACTGACCA G 1:152129065 0.995766 44603 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes, several complications 0.00109 0.1029 0.0315 Vitamin D deficiency 0.0003848 1.406 0.396 FLG rs138726443 1:152307547:G:A 1 152307547 G A 1:152280023 0.989584 0.00736551 16 2690 LC dominant Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dermatitis, atopic, 2;Ichthyosis vulgaris;not provided Atopic dermatitis 3.47e-15 1.0228 0.1299 Atopic dermatitis, strict definition 0.000112 8.176 2.116 FLG rs151103850 1:152310208:G:A 1 152310208 G A 1:152282684 0.994025 0.0550154 1132 19080 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Colorectal cancer (other cancers excluded from controls) 6.06e-06 0.2967 0.0656 Sleep disorders (combined) 0.0008728 -0.291 0.088 FLG rs200360684 1:152311827:G:C 1 152311827 G C 1:152284303 0.827484 169 LC dominant Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Hidradenitis suppurativa 0.000391 12.0053 3.3857 Acute epiglottitis 0.0003676 205.925 57.806 FLG rs12756586 1:152311948:G:C 1 152311948 G C 1:152284424 0.970674 3317 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and specified injuries of hip and thigh 2e-04 2.5665 0.6901 Other endocrine disorders 0.0001773 20.731 5.529 FLG rs138381300 1:152312600:CACTG:C 1 152312600 CACTG C 1:152285076 0.906426 0.0134898 86 4870 LC dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Atopic dermatitis, strict definition 2.52e-22 1.1036 0.1136 0.0002158 4.317 1.167 FLG rs74129461 1:152312623:C:T 1 152312623 C T 1:152285099 0.998821 52105 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of spinal cord 0.00133 0.3571 0.1113 Haemangioma and lymphangioma, any site (other cancers excluded from controls) 3.107e-05 0.426 0.102 FLG rs61816761 1:152313385:G:A 1 152313385 G A 1:152285861 0.949337 0.00285801 0 1050 LC dominant Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atopic dermatitis, strict definition 1.3e-10 1.6454 0.256 FLG rs11584340 1:152313454:G:A 1 152313454 G A 1:152285930 0.99886 52089 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of spinal cord 0.0013 0.3581 0.1113 Haemangioma and lymphangioma, any site (other cancers excluded from controls) 2.956e-05 0.428 0.102 FLG rs2011331 1:152313526:T:C 1 152313526 T C 1:152286002 0.998841 52090 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of spinal cord 0.0013 0.358 0.1113 Haemangioma and lymphangioma, any site (other cancers excluded from controls) 2.956e-05 0.428 0.102 SPRR3 rs72704847 1:153003334:G:A 1 153003334 G A 1:152975810 0.995579 8043 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nephrotic syndrome 0.0016 0.8053 0.2551 Other arthrosis 0.000991 0.829 0.252 LOR rs201890491 1:153261823:G:A 1 153261823 G A 1:153234299 0.885786 0.000391956 0 144 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parkinson's disease, strict definition (more controls excluded) 5.15e-05 5.2111 1.2871 NPR1 rs35479618 1:153689947:G:A 1 153689947 G A 1:153662423 0.978553 3770 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyroiditis 0.000255 1.0028 0.2742 Other disorders of veins 0.001659 2.433 0.774 GATAD2B rs145131801 1:153812083:G:A 1 153812083 G A 1:153784559 0.982902 1689 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Muscle strain 0.000416 2.8009 0.7936 Injury of muscle and tendon at wrist and hand level 0.0002927 16.371 4.52 IL6R rs2228145 1:154454494:A:C 1 154454494 A C 1:154426970 0.99727 0.297816 32800 76614 missense_variant unknown association association no assertion criteria provided no_Criteria Atopic dermatitis 2.82e-07 0.116 0.0226 Atopic dermatitis, strict definition with reimbursement 7.681e-08 0.155 0.029 CHRNB2 rs55685423 1:154572014:G:C 1 154572014 G C 1:154544490 0.976441 1245 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified urticaria 0.000363 0.9556 0.268 CHRNB2 rs112585933 1:154572058:G:A 1 154572058 G A 1:154544534 0.962875 0.00129291 0 475 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Lateral epicondylitis 2.38e-05 2.6628 0.6301 CHRNB2 rs202079239 1:154575801:C:G 1 154575801 C G 1:154548277 0.937708 625 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Burn and corrosion of ankle and foot 0.000288 8.4816 2.3392 ADAR rs2229857 1:154601491:T:C 1 154601491 T C 1:154573967 0.99959 0.673345 166840 80539 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colitis, primary sclerosing 8.72e-05 0.5241 0.1336 Colitis, primary sclerosing 0.0001115 0.342 0.088 ADAR rs201143561 1:154601870:C:T 1 154601870 C T 1:154574346 0.996549 1092 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities;Symmetrical dyschromatosis of extremities Pyoderma 0.0011 3.6051 1.1049 Other aneurysm 0.0003921 174.552 49.234 ADAR rs145588689 1:154602065:G:C 1 154602065 G C 1:154574541 0.963385 250 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl AV-block 0.000456 3.1059 0.8861 ADAR rs201331183 1:154602124:T:C 1 154602124 T C 1:154574600 0.998047 1144 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic thrombocytopenic purpura 0.00121 2.9537 0.9127 Other obstructive and reflux uropathy 9.031e-05 27.787 7.097 PMVK rs139248801 1:154929049:A:G 1 154929049 A G 1:154901525 0.962182 1266 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Haemangioma and lymphangioma, any site (other cancers excluded from controls) 0.00183 1.3251 0.4251 Examination and observation for other reasons 6.672e-05 3.995 1.002 FLAD1 rs7535144 1:154992637:G:T 1 154992637 G T 1:154965113 0.996682 0.0180273 138 6485 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathies 8.24e-06 -0.1364 0.0306 Unspefcified behauvioural syndromes associated with physiological disturbances and physical factors +Phsyiological and behauvioural factors associated with disorders of diseases classified elsewhere 1.825e-05 17.884 4.173 ADAM15 rs77062647 1:155055974:C:A 1 155055974 C A 1:155028450 0.947188 1090 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other nutritional deficiencies 0.000402 0.6268 0.1771 Statin medication 0 2.085 0 EFNA4 rs201215681 1:155069013:C:G 1 155069013 C G 1:155041489 0.956018 148 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.000476 2.3931 0.6849 GBA rs76763715 1:155235843:T:C 1 155235843 T C 1:155205634 0.929612 338 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Communicating hydrocephalus 0.000806 9.9611 2.9727 GBA rs75548401 1:155236246:G:A 1 155236246 G A 1:155206037 0.96853 0.00974719 50 3531 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson disease, late-onset;not provided;not specified Malignant neoplasm of oesophagus 7.25e-05 2.5764 0.6493 Fracture of skull and facial bones 0.001449 4.087 1.283 GBA rs2230288 1:155236376:C:T 1 155236376 C T 1:155206167 0.997941 0.0415229 612 14643 missense_variant both Conflicting interpretations of pathogenicity, risk factor risk factor criteria provided, conflicting interpretations Criteria_multSubmitter Cogwheel rigidity;Dementia;Gaucher's disease, type 1;Hyperlipidemia;Hypertension;Lower limb muscle weakness;Neurological speech impairment;Parkinsonism;Parkinsonism;Parkinsonism;Rigidity;Tremor;not provided;not specified Parkinson's disease, strict definition (more controls excluded) 2.56e-07 0.514 0.0997 Follow-up examination after treatment for conditions other than malignant neoplasms 0.0001636 0.541 0.144 CLK2 rs138254335 1:155263972:C:T 1 155263972 C T 1:155233763 0.956045 587 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Ascending colon 0.000338 2.4576 0.6857 HCN3 rs137971983 1:155285928:C:T 1 155285928 C T 1:155255719 0.990528 0.00117042 2 428 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Outcome of delivery 1.4e-05 1.6218 0.3733 PKLR rs201217064 1:155291760:T:A 1 155291760 T A 1:155261551 0.980573 631 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Total colectomy operation 0.000944 3.7178 1.1244 PKLR rs8177988 1:155291858:C:T 1 155291858 C T 1:155261649 0.980024 764 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Leiomyoma of uterus (other cancers excluded from controls) 0.000307 -0.551 0.1527 PKLR rs116100695 1:155291918:G:A 1 155291918 G A 1:155261709 0.99697 2354 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Adenosine triphosphate, elevated, of erythrocytes;Pyruvate kinase deficiency of red cells;Pyruvate kinase deficiency of red cells;not provided Portal vein thrombosis 0.00151 3.3324 1.0506 Neuralgia and neuritis, unspecified 4.446e-05 37.915 9.286 FDPS rs41314549 1:155320440:T:C 1 155320440 T C 1:155290231 0.983956 2107 missense_variant dominant not provided not_provided no assertion provided none Other specified and unspecified retinal disorders 0.000513 2.3982 0.6903 Sudden idiopathic hearing loss 0.000254 17.074 4.667 ASH1L rs775592405 1:155337700:C:CT 1 155337700 C CT 1:155307491 0.888763 0.000261304 0 96 LC dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Lesion of sciatic nerve 9.52e-05 11.6452 2.9841 YY1AP1 rs185936522 1:155660454:T:C 1 155660454 T C 1:155630245 0.950974 565 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polycythaemia vera 0.000153 5.5059 1.4543 YY1AP1 rs143953255 1:155688110:A:G 1 155688110 A G 1:155657901 0.976368 5949 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine with aura 0.000191 0.4065 0.109 Glucoma-related operations 0.0001464 8.975 2.364 YY1AP1 rs61817761 1:155688145:C:T 1 155688145 C T 1:155657936 0.951537 2196 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Blood alcohol or alcohol intoxication level 0.000209 3.1752 0.8562 Hirsutism 0.0004483 144.825 41.262 RIT1 rs493446 1:155910782:C:G 1 155910782 C G 1:155880573 0.998575 34193 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Valvular operations 0.00017 0.0636 0.0169 Valvular operations 0.0001786 0.034 0.009 UBQLN4 rs2297792 1:156041653:T:C 1 156041653 T C 1:156011444 0.999568 0.613841 138728 86790 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility, associated with anovulation 7.38e-05 -0.2101 0.053 Benign neoplasm: Skin of eyelid, including canthus 1.517e-05 0.11 0.025 UBQLN4 rs143327773 1:156048508:C:T 1 156048508 C T 1:156018299 0.966696 901 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other articular cartilage disorders 0.00188 3.1602 1.0169 LMNA rs6657367 1:156126585:G:A 1 156126585 G A 1:156096376 0.993834 8937 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Barret oesophagus 0.000765 0.8778 0.2608 Fibrosis and chirrhosis of liver 0.000199 4.867 1.308 LMNA rs593987 1:156126596:G:A 1 156126596 G A 1:156096387 0.990931 10170 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizophrenia 0.000122 0.4054 0.1055 Benign neoplasm: Skin of ear and external auricular canal (other cancers excluded from controls) 0.0006187 4.494 1.313 LMNA rs594028 1:156126626:T:G 1 156126626 T G 1:156096417 0.993429 18556 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of arteries, arterioles and capillaries (FINNGEN) 0.000529 -0.1671 0.0482 Diseases of spleen 0.0001254 5.588 1.457 LMNA rs513043 1:156129878:T:G 1 156129878 T G 1:156099669 0.993711 18558 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Diseases of arteries, arterioles and capillaries (FINNGEN) 0.000528 -0.1671 0.0482 Diseases of spleen 0.0001255 5.588 1.457 LMNA rs374926367 1:156139089:A:G 1 156139089 A G 1:156108880 0.931538 207 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Optic neuritis 0.000268 8.2035 2.2507 SEMA4A rs2075164 1:156175180:G:A 1 156175180 G A 1:156144971 0.95604 556 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Kidney (other cancers excluded from controls) 0.000435 5.5487 1.5772 SEMA4A rs76381440 1:156176755:C:T 1 156176755 C T 1:156146546 0.968002 2140 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Disorders of porphyrin and bilirubin metabolism 0.000926 3.7747 1.1396 conjunctival haemorrhage 0.00016 22.453 5.948 SEMA4A rs41265017 1:156176849:G:A 1 156176849 G A 1:156146640 0.98756 9670 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;Retinitis Pigmentosa, Recessive;Retinitis pigmentosa 35;not specified Communicating hydrocephalus 0.000303 1.3917 0.3853 Emotional disorders starting during childhood or adolecense (more controls excluded) 0.001364 8.437 2.635 SMG5 rs34377219 1:156266009:G:A 1 156266009 G A 1:156235800 0.973683 347 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain in throat and chest 0.000469 -0.7077 0.2023 BCAN rs115373136 1:156647022:C:G 1 156647022 C G 1:156616814 0.96339 22198 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Chronic kidney disease 0.00039 -0.2054 0.0579 Acute nasopharyngitis(common cold) 0.0001929 0.751 0.201 BCAN rs62001922 1:156652733:C:A 1 156652733 C A 1:156622525 0.977743 3747 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atypical mycobacterium lung infection 0.000459 3.1264 0.8923 Persons encountering health services for specific procedures, not carried out 0.0003353 16.6 4.629 BCAN rs41267397 1:156657004:G:T 1 156657004 G T 1:156626796 0.981019 0.00188085 2 689 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alogoneurodystrophy 2.12e-05 5.3594 1.2605 NES rs146715283 1:156670713:C:T 1 156670713 C T 1:156640505 0.98421 0.000849238 0 312 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy, childbirth and the puerperium 3.53e-05 -0.6965 0.1684 NES rs140652000 1:156671954:C:G 1 156671954 C G 1:156641746 0.974339 1935 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disorders involving the immune mechanism, not elsewhere classified 0.000625 2.3305 0.6814 Keratitis 0.0004303 5.995 1.703 NES rs114406081 1:156672363:C:G 1 156672363 C G 1:156642155 0.940191 1661 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Nontoxic single thyroid nodule 0.000733 1.3052 0.3865 Hypopituitarism 4.786e-06 98.248 21.48 INSRR rs56252149 1:156844235:G:A 1 156844235 G A 1:156814027 0.968405 38766 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Anus and anal canal 0.000246 0.4892 0.1334 Varus deformity, not elsewhere classified 0.0008349 1.597 0.478 INSRR rs56068937 1:156846669:G:A 1 156846669 G A 1:156816461 0.973461 1516 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to social environment 0.00031 2.6105 0.7238 Vertigo of central origin 0.0005938 130.681 38.05 INSRR rs56377825 1:156852093:A:G 1 156852093 A G 1:156821885 0.988468 1525 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to social environment 0.000341 2.5765 0.7192 Vertigo of central origin 0.0006044 128.299 37.409 NTRK1 rs201472270 1:156860950:C:T 1 156860950 C T 1:156830742 0.912042 1769 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial medullary thyroid carcinoma;Hereditary insensitivity to pain with anhidrosis;not provided;not specified Other otitis externa (chronic) 0.000393 1.5959 0.4503 Congenital malformations of the musculoskeletal system, not elsewhere classified 0.0005436 131.826 38.118 NTRK1 rs1007211 1:156860987:G:A 1 156860987 G A 1:156830779 0.899183 2961 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary insensitivity to pain with anhidrosis;not provided;not specified Moderate visual impairment, binocular 0.000115 1.8932 0.4909 Problems related to life-management difficulty 0.001003 11.365 3.455 NTRK1 rs367836863 1:156868180:G:A 1 156868180 G A 1:156837972 0.968197 437 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute tubulo-interstitial nephritis 0.000209 0.8714 0.235 NTRK1 rs6336 1:156879126:C:T 1 156879126 C T 1:156848918 0.994355 0.0336211 452 11900 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial medullary thyroid carcinoma;Hereditary insensitivity to pain with anhidrosis;Hereditary insensitivity to pain with anhidrosis;not provided;not specified Obesity due to excess calories 3.32e-06 0.2952 0.0635 Other specified/unspecified bacterial intestinal infections 0.0002184 2.749 0.744 NTRK1 rs6339 1:156879154:G:T 1 156879154 G T 1:156848946 0.994476 0.0336347 352 12005 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial medullary thyroid carcinoma;Hereditary insensitivity to pain with anhidrosis;Hereditary insensitivity to pain with anhidrosis;not provided;not specified Obesity due to excess calories 2.28e-06 0.3015 0.0638 Other specified/unspecified bacterial intestinal infections 0.0004632 3.021 0.863 NTRK1 rs200935209 1:156880065:A:T 1 156880065 A T 1:156849857 0.910537 385 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thrombocytopenia, unspecified 0.00105 3.5066 1.0699 NTRK1 rs35669708 1:156881590:G:A 1 156881590 G A 1:156851382 0.951559 708 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Medical abortion 0.000404 0.707 0.1999 FCRL3 rs140279920 1:157696040:T:C 1 157696040 T C 1:157665830 0.961941 14029 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of other body structures 0.000323 -0.4406 0.1225 Other and unspecified tonssillitis 0.0004674 0.661 0.189 CD1A rs141060322 1:158256900:G:A 1 158256900 G A 1:158226690 0.976655 313 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intussusception 0.000603 11.5087 3.3549 CD1C rs115248892 1:158292829:G:T 1 158292829 G T 1:158262619 0.99425 461 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified congenital malformation syndromes affecting multiple systems 0.000435 7.8065 2.2191 CD1B rs62642468 1:158330814:C:T 1 158330814 C T 1:158300604 0.932311 0.00157599 0 579 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Faecal incontinence 9.78e-05 3.0412 0.7806 SPTA1 rs112884419 1:158612847:C:A 1 158612847 C A 1:158582637 0.997233 0.00087918 0 323 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intestinal malabsorbtion 6.24e-05 6.6899 1.671 SPTA1 rs952094 1:158614301:A:G 1 158614301 A G 1:158584091 0.999625 85538 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seropositive rheumatoid arthritis, strict definition 0.000501 -0.185 0.0532 Keratoconus 0.0003402 -0.242 0.068 SPTA1 rs138055271 1:158619315:T:C 1 158619315 T C 1:158589105 0.983876 3537 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive;not provided;not specified Other necrotizing vasculopathies 0.000156 1.1268 0.298 Other headache syndromes 1.542e-05 3.099 0.717 SPTA1 rs41273519 1:158619331:G:A 1 158619331 G A 1:158589121 0.999403 0.000628763 0 231 missense_variant both Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Other and unspecified vascular occlusions 9.23e-05 4.8957 1.2521 SPTA1 rs78394850 1:158623057:G:A 1 158623057 G A 1:158592847 0.986738 0.00923819 34 3360 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive;not specified Tubulo-interstitial nephritis, not spesified as acute or chronic 1.38e-05 1.2517 0.288 Generalized epilepsy 6.644e-05 11.303 2.834 SPTA1 rs77877855 1:158623111:C:G 1 158623111 C G 1:158592901 0.997951 0.00895239 34 3255 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive;not specified Tubulo-interstitial nephritis, not spesified as acute or chronic 1.48e-05 1.2701 0.2932 Generalized epilepsy 6.577e-05 11.328 2.838 SPTA1 rs3737515 1:158627717:G:C 1 158627717 G C 1:158597507 0.999517 75921 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unknown and unspecified causes of morbidity 0.000309 -0.1986 0.055 Phlebitis and thrombophlebitis (not including DVT) 2.204e-05 0.156 0.037 SPTA1 rs16830483 1:158634601:T:C 1 158634601 T C 1:158604391 0.997974 0.00895511 34 3256 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive;not specified Tubulo-interstitial nephritis, not spesified as acute or chronic 1.5e-05 1.2684 0.2931 Generalized epilepsy 6.577e-05 11.328 2.838 SPTA1 rs857725 1:158638145:T:G 1 158638145 T G 1:158607935 0.999852 0.335844 41498 81887 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chromosomal abnormalities, not elsewhere classified 1.17e-05 -0.5606 0.1279 Intestinal infectious diseases 7.466e-05 0.05 0.013 SPTA1 rs863931 1:158642446:A:G 1 158642446 A G 1:158612236 0.999203 84632 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seropositive rheumatoid arthritis, strict definition 0.000181 -0.2002 0.0535 Keratoconus 0.0006522 -0.229 0.067 SPTA1 rs41273523 1:158642929:C:T 1 158642929 C T 1:158612719 0.995481 10790 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive;not specified Phlebitis and thrombophlebitis (not including DVT) 0.000101 0.3374 0.0868 Other diseases of anus and rectum 0.0007924 1.212 0.361 SPTA1 rs34973695 1:158642966:G:A 1 158642966 G A 1:158612756 0.998095 5046 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive;not provided;not specified Acohol-induced acute pancreatitis 0.000323 1.2662 0.3521 Osteonecrosis 0.0009022 11.231 3.384 SPTA1 rs35948326 1:158654738:G:T 1 158654738 G T 1:158624528 0.996181 13932 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spherocytosis, Recessive;Spherocytosis, type 3, autosomal recessive;not specified Nerve, nerve root and plexus disorders 0.000704 -0.1037 0.0306 Complications following infusion, transfusion and therapeutic injection 0.0001549 9.285 2.454 SPTA1 rs148912436 1:158667938:T:C 1 158667938 T C 1:158637728 0.992467 3427 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive;not provided;not specified Disorders resulting from impaired renal tubular function 0.000175 1.8201 0.485 Acute peritonitis 5.26e-05 12.844 3.176 SPTA1 rs202243588 1:158669553:C:T 1 158669553 C T 1:158639343 0.867898 124 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Monoplegia 0.00102 21.2108 6.4558 SPTA1 rs183647059 1:158678420:T:C 1 158678420 T C 1:158648210 0.999506 4684 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive Lesion of sciatic nerve 0.000113 1.0216 0.2646 Parkinson's disease, strict definition (more controls excluded) 0.0001367 8.297 2.175 SPTA1 rs187932146 1:158678438:C:T 1 158678438 C T 1:158648228 0.997649 359 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diverticular disease of intestine 0.000603 0.8413 0.2453 SPTA1 rs199598260 1:158678534:C:T 1 158678534 C T 1:158648324 0.999505 4677 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive Lesion of sciatic nerve 0.000108 1.0262 0.2651 Parkinson's disease, strict definition (more controls excluded) 0.0001129 8.704 2.254 SPTA1 rs200860772 1:158685180:A:T 1 158685180 A T 1:158654970 0.967775 535 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Elliptocytosis;Hereditary pyropoikilocytosis;Spherocytosis, Recessive Soft tissue disorders 0.00112 0.3685 0.1131 Arthropathies 0 1.914 0 SPTA1 rs41273533 1:158685339:C:G 1 158685339 C G 1:158655129 0.962188 1075 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Social disorders starting during childhood or adolecense 0.00012 7.4963 1.9486 IFI16 rs147301876 1:159045460:C:T 1 159045460 C T 1:159015250 0.955182 4169 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic Coagulation defects 0.00112 1.6038 0.492 Coxarthrosis, primary, with hip surgery 0.003119 1.97 0.666 ACKR1 rs12075 1:159205564:G:A 1 159205564 G A 1:159175354 0.998482 90996 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.000182 -0.4562 0.1219 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.001012 -0.314 0.095 ACKR1 rs34599082 1:159205704:C:T 1 159205704 C T 1:159175494 0.990692 2178 missense_variant both Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE Ptosis of eyelid 0.000523 1.1176 0.3222 CR(E)ST syndrome 0.0003892 158.483 44.677 FCER1A rs2298805 1:159304153:G:A 1 159304153 G A 1:159273943 0.997265 434 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sixth [abducent] nerve palsy 0.000353 6.0466 1.6922 FCER1A rs145443280 1:159306186:C:T 1 159306186 C T 1:159275976 0.977971 0.000881901 0 324 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified congenital malformation syndromes affecting multiple systems 6.81e-05 12.8052 3.215 FCER1A rs41264475 1:159307899:C:A 1 159307899 C A 1:159277689 0.967814 1046 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dysplasia of cervi uteri 0.00151 0.8058 0.254 0.004784 -19.888 7.049 FCRL6 rs147917646 1:159808358:G:A 1 159808358 G A 1:159778148 0.936618 0.00234085 4 856 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperhidrosis 9.79e-05 4.409 1.1318 Subarachnoid haemmorrhage 0.008381 14.857 5.635 IGSF9 rs116177033 1:159932648:G:A 1 159932648 G A 1:159902438 0.994498 1298 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pleural effusion 0.000695 1.2257 0.3614 KCNJ10 rs3795339 1:160041721:C:T 1 160041721 C T 1:160011511 0.984852 0.00710965 22 2590 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;SeSAME syndrome;not specified Prurigo nodularis 6.94e-05 2.7504 0.6913 0.0004129 14.552 4.12 KCNJ10 rs1130183 1:160041722:G:A 1 160041722 G A 1:160011512 0.999035 26498 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;SeSAME syndrome;not specified Unspesified kidney failure 0.000229 -0.3729 0.1012 Injury of muscle and tendon at wrist and hand level 0.001555 0.52 0.164 KCNJ10 rs149615470 1:160041845:G:A 1 160041845 G A 1:160011635 0.980271 494 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other appendicitis 0.00116 2.1181 0.6521 KCNJ10 rs145947380 1:160042003:T:C 1 160042003 T C 1:160011793 0.906139 96 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diabetic retinopathy 0.000539 6.7236 1.943 KCNJ10 rs115466046 1:160042480:C:T 1 160042480 C T 1:160012270 0.994977 4257 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;SeSAME syndrome;not provided;not specified Hypertension, essential 0.001 -0.1665 0.0506 Chronic iridocyclitis 0.001103 10.123 3.103 ATP1A2 rs55858252 1:160120918:T:A 1 160120918 T A 1:160090708 0.897431 87 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments at neck level 0.000346 5.9808 1.6715 ATP1A2 rs116711766 1:160123375:G:A 1 160123375 G A 1:160093165 0.839611 0.000552549 0 203 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pulmonary oedema 8.41e-05 13.1392 3.3412 ATP1A2 rs147183887 1:160135591:G:C 1 160135591 G C 1:160105381 0.927845 327 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hemiplegic migraine;not provided Acute peritonitis 0.00104 3.7135 1.1324 Disorders of the thyroid gland 0.0004531 3.476 0.991 CASQ1 rs189183669 1:160190753:T:A 1 160190753 T A 1:160160543 0.873655 106 start_lost dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiovascular diseases 0.000916 -0.8569 0.2585 CASQ1 rs79469730 1:160190977:G:A 1 160190977 G A 1:160160767 0.957095 0.000345684 0 127 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of central nervous system 1.18e-05 20.1417 4.5968 CASQ1 rs145486953 1:160192801:G:C 1 160192801 G C 1:160162591 0.986009 421 pLoF dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 0.000587 2.3452 0.6822 DCAF8 rs200043571 1:160240071:G:A 1 160240071 G A 1:160209861 0.982296 409 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Poisoning by drugs, medicaments and biological substances 0.000742 1.339 0.3969 DCAF8 rs753386209 1:160240083:GCTCTTCTTCCTC:G 1 160240083 GCTCTTCTTCCTC G 1:160209873 0.975452 12273 inframe_indel dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erectile dysfunction 2e-04 0.5028 0.1352 Cough 0.002663 0.584 0.194 PEX19 rs142780305 1:160282135:A:C 1 160282135 A C 1:160251925 0.898469 142 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Neuromuscular dysfuntion of bladder 0.00335 4.7099 1.6056 PEX19 rs78340311 1:160282174:C:T 1 160282174 C T 1:160251964 0.997517 2280 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Zellweger syndrome;not specified Contusion of other and unspecified parts of foot 0.000146 1.9764 0.5203 Benign neoplasm: Skin of eyelid, including canthus (other cancers excluded from controls) 0.0001488 7.754 2.044 COPA rs138625189 1:160291893:C:A 1 160291893 C A 1:160261683 0.962212 0.000288523 0 106 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of central nervous system 4.99e-06 24.5968 5.388 LY9 rs35923801 1:160813767:C:A 1 160813767 C A 1:160783557 0.985583 6411 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other dorsopathies, not elsewhere classified 0.000105 -0.1409 0.0363 Postprocedural endocrine and metabolic disorders, not elsewhere classified 0.0006401 5.434 1.592 ITLN1 rs8144 1:160876668:C:G 1 160876668 C G 1:160846458 0.945253 2128 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at forearm level 0.000186 3.2671 0.8742 Other and unspecified hydrocephalus 0.0009407 82.307 24.884 NECTIN4 rs78105657 1:161079709:G:A 1 161079709 G A 1:161049499 0.98552 2374 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic ileus 0.000366 1.8418 0.5169 Abscess of external ear 0.001117 74.862 22.968 PPOX rs28936677 1:161166882:T:C 1 161166882 T C 1:161136672 0.903145 130 missense_variant dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Fracture of lower leg, including ankle 0.00116 1.5337 0.4722 PPOX rs12735723 1:161169143:C:G 1 161169143 C G 1:161138933 0.995038 0.0117097 62 4240 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Variegate porphyria, homozygous Need for immunization against other single viral diseases 8.45e-05 1.7917 0.4557 Long labour 0.0006106 5.295 1.545 PPOX rs36013429 1:161169948:G:A 1 161169948 G A 1:161139738 0.997137 19292 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Variegate porphyria Urticaria 0.000681 0.1718 0.0506 Other and unspecified injuries of thorax 0.0004346 3.97 1.129 NDUFS2 rs11538340 1:161202443:C:A 1 161202443 C A 1:161172233 0.997266 22549 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mitochondrial complex I deficiency;not provided Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 0.000453 0.1214 0.0346 5.66e-05 -0.161 0.04 NDUFS2 rs35086265 1:161210692:G:A 1 161210692 G A 1:161180482 0.984548 5026 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Other dorsopathies, not elsewhere classified 0.000223 -0.1493 0.0404 Malignant neoplasm of vulva 4.054e-05 45.345 11.048 NDUFS2 rs11576415 1:161212418:C:G 1 161212418 C G 1:161182208 0.995357 32487 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Olecranon bursitis 0.00131 0.3144 0.0978 Dronedarone medication 7.294e-05 1.37 0.345 NR1I3 rs34161743 1:161233288:G:A 1 161233288 G A 1:161203078 0.809844 64 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-ischemic cardiomyopathy 0.000449 2.3926 0.6818 MPZ rs34307129 1:161305939:G:A 1 161305939 G A 1:161275729 0.987944 9632 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Paralytic ileus 0.00046 0.8116 0.2317 Hemiplegia 0.0003734 4.028 1.132 SDHC rs182629842 1:161362511:G:A 1 161362511 G A 1:161332301 0.907228 0.00121942 2 446 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Schizotypal disorder 5.75e-05 7.9504 1.9763 SDHC rs201210474 1:161362517:G:C 1 161362517 G C 1:161332307 0.930471 1062 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Paragangliomas 3;Pheochromocytoma;not provided;not specified Speech disturbances, not elsewhere classified 0.00071 1.896 0.56 Internar derangement of knee 0.001327 4.496 1.4 FCGR2A rs9427397 1:161506414:C:T 1 161506414 C T 1:161476204 0.991609 0.107325 4392 35038 pLoF both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immune disease comorbidities 1.76e-07 0.1183 0.0227 Benign neoplasm: Liver/bile ducts 0.0002021 1.462 0.393 FCGR2A rs9427398 1:161506415:A:G 1 161506415 A G 1:161476205 0.991587 0.107094 4390 34955 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immune disease comorbidities 2.22e-07 0.1174 0.0227 Benign neoplasm: Liver/bile ducts 0.0002023 1.462 0.393 FCGR2A rs1801274 1:161509955:A:G 1 161509955 A G 1:161479745 0.999052 0.502265 92940 91586 missense_variant both drug response drug response reviewed by expert panel Criteria_multSubmitter IBD patients in KELA-register 2.68e-08 -0.1497 0.0269 2.928e-08 -0.124 0.022 FCGR2A rs11810143 1:161510859:A:G 1 161510859 A G 1:161480649 0.990125 0.106138 4310 34684 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immune disease comorbidities 1.11e-07 0.1209 0.0228 Benign neoplasm: Liver/bile ducts 0.0001908 1.484 0.398 HSPA6 rs140320557 1:161525967:C:T 1 161525967 C T 1:161495757 0.958584 1323 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other (seronegative) rheumatoid arthritis, wide 0.00156 0.8223 0.26 Mental and behavioural disorders due to psychoctive substance use 0.001333 7.152 2.229 FCGR3A rs396991 1:161544752:A:C 1 161544752 A C 1:161514542 0.987122 0.267418 26586 71660 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter IBD patients in KELA-register 2.57e-07 0.1576 0.0306 Ulcerative colitis 2.902e-05 0.148 0.035 FCGR3A rs10127939 1:161548543:A:C 1 161548543 A C 1:161518333 0.936766 0.0461991 880 16093 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 20;not specified UC patients in KELA-register ( KELA 208 prior to 1994, or ICD K51) 1.58e-06 0.3708 0.0772 Immunodeficiencies 0.0004152 2.328 0.66 FCGR3A rs10127939 1:161548543:A:T 1 161548543 A T 1:161518333 0.94777 20396 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immunodeficiency 20;not specified ILD differential diagnosis 0.000171 0.0581 0.0154 Childhood asthma (age<16) 0.00209 0.615 0.2 ATF6 rs112863172 1:161766407:G:T 1 161766407 G T 1:161736197 0.993493 1176 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Recurrent dislocation and subluxation of joint 0.000306 1.6729 0.4634 Headache 0 10.966 0 ATF6 rs1058405 1:161781951:A:G 1 161781951 A G 1:161751741 0.995427 76112 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of stomach and duodenum 0.000225 -0.2232 0.0605 Abnormal findings in nipple discharge synovial fluid wound secretions 0.001803 0.537 0.172 ATF6 rs138997959 1:161802196:C:T 1 161802196 C T 1:161771986 0.996465 5862 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorder of lipoprotein metabolism, unspecified 0.000272 0.5779 0.1587 Malignant neoplasm of small intestine 0.0004873 14.747 4.228 NOS1AP rs41271967 1:162300673:G:A 1 162300673 G A 1:162270463 0.995696 5420 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Umbilical hernia 0.00084 0.3541 0.1061 Maternal care for known or suspected disproportion 0.002432 6.914 2.281 DDR2 rs34722354 1:162770331:G:A 1 162770331 G A 1:162740121 0.992869 7895 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute tubulo-interstitial nephritis 0.000265 0.1964 0.0538 Other/unspecified soft tissue disorders related to use, overuse and pressure 0.0001869 8.612 2.305 HSD17B7 rs116929795 1:162790832:G:C 1 162790832 G C 1:162760622 0.960721 546 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pure hyperglyceridaemia 0.000239 6.5777 1.7903 HSD17B7 rs2684875 1:162812355:A:G 1 162812355 A G 1:162782145 0.995144 7318 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified cytomegaloviral diseases 0.00106 1.5421 0.471 Injury of muscle and tendon at shoulder and upper arm level 0.0003092 1.437 0.398 LRRC52 rs115506989 1:165563711:C:T 1 165563711 C T 1:165532948 0.990785 4657 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonspesific lymphadenitis 0.000982 0.7574 0.2298 Cholesteatoma of middle ear 6.224e-05 11.931 2.98 MAEL rs113109340 1:166992758:G:A 1 166992758 G A 1:166961995 0.996342 3337 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of uterus and cervix 0.000447 2.2465 0.6399 Atopic dermatitis 0.000242 2.898 0.789 POU2F1 rs142378150 1:167389600:A:G 1 167389600 A G 1:167358837 0.987693 1881 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructed labour due to maternal pelvic abnormality 0.000698 0.9751 0.2876 Other diseases of stomach and duodenum 1.77e-05 61.689 14.373 CD247 rs55729925 1:167435434:G:A 1 167435434 G A 1:167404671 0.969181 339 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter False labour 0.00027 1.3072 0.3588 ADCY10 rs41270737 1:167818241:T:C 1 167818241 T C 1:167787479 0.979897 2627 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary malignant neoplasm of other and unspecified sites (other cancers excluded from controls) 0.000278 3.4876 0.9595 Metabolic disorders 0.0001702 4.56 1.213 ADCY10 rs142478979 1:167875175:A:G 1 167875175 A G 1:167844413 0.99047 516 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (subcortical) 0.000238 6.4261 1.7488 GPR161 rs200664972 1:168136343:A:AG 1 168136343 A AG 1:168105581 0.986318 3396 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm of meninges (other cancers excluded from controls) 0.000923 0.8572 0.2587 Cutaneous abscess, furuncle and carbuncle 0.0007663 5.063 1.505 DPT rs143980534 1:168728970:A:T 1 168728970 A T 1:168698208 0.985523 763 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified iron deficiency 0.000777 1.0155 0.3022 SLC19A2 rs770374931 1:169477274:T:A 1 169477274 T A 1:169446512 0.952602 355 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Intermittent heterotropia 0.000142 4.5343 1.1916 F5 rs6027 1:169514323:T:C 1 169514323 T C 1:169483561 0.999839 0.0853675 2676 28687 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thrombophilia due to activated protein C resistance;not specified DVT of lower extremities 7.8e-08 0.2385 0.0444 Type of accident 0.0001246 2.352 0.613 F5 rs9332701 1:169515529:A:G 1 169515529 A G 1:169484767 0.961739 14886 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis;not specified Carcinoma in situ of skin of other and unspecified parts of face (other cancers excluded from controls) 0.000131 0.6168 0.1612 Helminthiases 0.0001024 5.923 1.525 F5 rs6030 1:169529737:T:C 1 169529737 T C 1:169498975 0.999438 77141 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other demyelinating diseases of the central nervous system 0.000272 0.2962 0.0814 Type of accident 0.0004326 0.509 0.145 F5 rs41272455 1:169529762:T:C 1 169529762 T C 1:169499000 0.991174 461 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Haemangioma, any site (other cancers excluded from controls) 0.000332 3.0995 0.8636 F5 rs6034 1:169529782:G:C 1 169529782 G C 1:169499020 0.915781 503 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of ear 0.000842 0.5471 0.1639 F5 rs6011 1:169530940:G:C 1 169530940 G C 1:169500178 0.914728 502 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of ear 0.000857 0.5462 0.1638 F5 rs9332608 1:169540880:G:A 1 169540880 G A 1:169510118 0.995436 14654 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis Central retinal artery occlusion 0.000856 0.9281 0.2784 Seronegative rheumatoid arthritis 0.0006176 1.288 0.376 F5 rs13306334 1:169540901:G:A 1 169540901 G A 1:169510139 0.998783 24008 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis Kela-cod for severe mental illness 0.000194 0.1796 0.0482 Benign neoplasm: Larynx 0.0004051 1.863 0.527 F5 rs1800595 1:169541110:T:C 1 169541110 T C 1:169510348 0.99086 0.0834077 2564 28079 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thrombophilia due to activated protein C resistance;not specified DVT of lower extremities 1.98e-07 0.2346 0.0451 Type of accident 0.0003709 2.209 0.621 F5 rs6032 1:169542317:T:C 1 169542317 T C 1:169511555 0.999844 0.222971 18406 63511 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Venous thromboembolism 1.25e-11 -0.1477 0.0218 Varicose veins of other sites 3.616e-05 0.333 0.081 F5 rs9332695 1:169542347:T:A 1 169542347 T A 1:169511585 0.962937 11115 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thrombophilia due to activated protein C resistance Peripheral retinal degeneration 0.0011 -0.7637 0.2341 Paralytic ileus 1.708e-05 6.122 1.424 F5 rs4525 1:169542496:T:C 1 169542496 T C 1:169511734 0.999415 0.222694 18342 63473 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Venous thromboembolism 1.01e-11 -0.1485 0.0218 Varicose veins of other sites 4.972e-05 0.327 0.081 F5 rs4524 1:169542517:T:C 1 169542517 T C 1:169511755 0.999979 0.223143 18404 63576 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Venous thromboembolism 8e-12 -0.1491 0.0218 Varicose veins of other sites 3.568e-05 0.333 0.081 F5 rs6018 1:169542640:T:G 1 169542640 T G 1:169511878 0.999328 0.0841154 2624 28279 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis;not specified DVT of lower extremities 1.29e-07 0.2358 0.0447 Type of accident 0.0001072 2.42 0.625 F5 rs200146772 1:169542751:G:A 1 169542751 G A 1:169511989 0.985318 565 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other articular cartilage disorders 0.000406 4.5608 1.2897 Nerve, nerve root and plexus disorders 0 4.413 0 F5 rs144979314 1:169542868:T:C 1 169542868 T C 1:169512106 0.941178 1712 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis conjunctival degenerations and deposits 0.000297 2.9994 0.8291 Acquired haemolytic anaemia 0.0005241 135.103 38.956 F5 rs6020 1:169549874:C:T 1 169549874 C T 1:169519112 0.998968 16077 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thrombophilia due to activated protein C resistance Toxic liver disease 0.000373 1.0953 0.3078 Pulmonary eosinophilia, not elsewhere classified 0.002059 3.741 1.214 F5 rs141768227 1:169550645:G:A 1 169550645 G A 1:169519883 0.996788 1207 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis Convalescence 0.000426 2.2602 0.6415 Other symptoms and signs involving the digestive system and abdomen 0.001202 70.525 21.778 F5 rs6033 1:169552615:A:G 1 169552615 A G 1:169521853 0.970864 0.113793 4848 36958 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 4.47e-05 0.0865 0.0212 Type of accident 1.532e-05 1.981 0.458 F5 rs6019 1:169572275:C:G 1 169572275 C G 1:169541513 0.982206 11050 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Budd-Chiari syndrome;Factor V deficiency;Thrombophilia due to activated protein C resistance;Venous thrombosis;not specified Pure hyperglyceridaemia 0.000317 1.1841 0.3289 Giant cell arteritis 0.0001341 5.403 1.415 F5 rs9332485 1:169586344:C:T 1 169586344 C T 1:169555582 0.994145 266 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of parathyroid gland 0.000442 2.0272 0.577 SELP rs6136 1:169594713:T:G 1 169594713 T G 1:169563951 0.988334 0.121425 5532 39078 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Other coagulation defects 6.68e-05 0.341 0.0855 0.000262 -0.079 0.022 SELL rs61761863 1:169708782:G:C 1 169708782 G C 1:169677923 0.989808 0.0231608 218 8291 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female genital prolapse 2.36e-05 -0.2825 0.0668 Mental disorders, not otherwise specified 0.0003911 2.802 0.79 SELE rs5368 1:169727805:G:A 1 169727805 G A 1:169696946 0.999893 0.142256 7604 44659 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Other and unspecified coagulation defects 3.63e-05 -0.4215 0.1021 Central retinal artery occlusion 6.473e-05 1.263 0.316 SELE rs79478039 1:169729301:G:T 1 169729301 G T 1:169698442 0.958142 516 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy, other and unspecified 0.00276 2.4063 0.8038 SELE rs41272475 1:169729502:T:G 1 169729502 T G 1:169698643 0.983152 967 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative colitis 0.000753 0.8554 0.2538 Alzheimer's disease (Early onset) 0.0007735 92.348 27.467 GORAB rs913257 1:170552235:G:A 1 170552235 G A 1:170521376 0.99397 90150 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter with reimbursement 0.000305 0.0758 0.021 0.001178 -0.159 0.049 FMO3 rs2266782 1:171107825:G:A 1 171107825 G A 1:171076966 0.999965 90527 LC recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified iridocyclitis 0.000861 -0.2785 0.0836 0.001092 -0.039 0.012 FMO3 rs1736557 1:171110939:G:A 1 171110939 G A 1:171080080 0.999714 16329 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Trimethylaminuria;not specified Anaemia in chronic diseases classified elsewhere 0.000485 1.0911 0.3127 Sacrococcygeal disorders, not elsewhere classified 0.0007233 2.49 0.736 FMO3 rs2266780 1:171114102:A:G 1 171114102 A G 1:171083242 0.999937 0.245746 22354 67930 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of the eye and adnexa 8.93e-06 -0.0383 0.0086 Aortic aneurysm 0.0002567 -0.184 0.05 FMO2 rs768321042 1:171196663:TG:T 1 171196663 TG T 1:171165802 0.999859 8791 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicobrachial syndrome 0.0013 -0.2959 0.092 0.0007584 1.883 0.559 FMO2 rs140394156 1:171199358:T:C 1 171199358 T C 1:171168497 0.978464 325 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mycoses 0.000181 1.888 0.5043 FMO2 rs148292940 1:171199382:G:A 1 171199382 G A 1:171168521 0.967734 0.00321731 4 1178 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the musculoskeletal system and connective tissue 2.04e-05 -0.2926 0.0687 0.0001638 -4.146 1.1 FMO2 rs71635690 1:171207738:G:A 1 171207738 G A 1:171176877 0.962806 3042 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to social environment 0.000613 1.717 0.5012 Malignant neoplasm of thyroid gland (other cancers excluded from controls) 0.0008954 8.155 2.455 FMO4 rs61747501 1:171332743:T:A 1 171332743 T A 1:171301882 0.921424 1220 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Central retinal artery occlusion 0.000363 4.6474 1.3035 FMO4 rs45599742 1:171334697:G:A 1 171334697 G A 1:171303836 0.987566 475 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to unspecified part of trunk, limb or body region 0.000103 3.5625 0.9175 MYOC rs56314834 1:171636247:T:C 1 171636247 T C 1:171605387 0.975318 0.000800244 0 294 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Colectomy operation 3.93e-05 3.3544 0.8159 MYOC rs74315329 1:171636338:G:A 1 171636338 G A 1:171605478 0.996943 0.00279541 4 1023 pLoF dominant Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glaucoma 8.22e-16 1.6399 0.2037 MYOC rs2234926 1:171652385:C:T 1 171652385 C T 1:171621525 0.987015 49879 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Toxic effect of ethanol 0.000431 0.2915 0.0828 Autism 0.000406 0.907 0.257 PIGC rs34001453 1:172441947:G:A 1 172441947 G A 1:172411087 0.939866 0.00327447 6 1197 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter IBD patients in KELA-register 2.97e-05 1.0849 0.2598 Alergic contact dermatitis 0.003621 25.972 8.927 SLC9C2 rs145922237 1:173557345:G:T 1 173557345 G T 1:173526484 0.993462 2522 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dialysis 2e-04 1.7681 0.4753 Faecal incontinence 0.0001152 25.56 6.628 DARS2 rs142433332 1:173831632:T:C 1 173831632 T C 1:173800770 0.973883 700 LC recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormality of the foot;CNS demyelination;Cerebral cortical atrophy;Difficulty walking;Dysmetria;EMG: axonal abnormality;Gait ataxia;Gait imbalance;Gout;Hypertension;Impaired vibration sensation in the lower limbs;Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation;Sensorimotor neuropathy;Talipes equinovarus;not provided Other bursitis, not elsewhere classified 0.000835 6.8107 2.0385 Torticollis 0.0009867 86.382 26.222 DARS2 rs141298312 1:173839539:G:A 1 173839539 G A 1:173808677 0.995989 10336 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;not provided;not specified Hypertrophy of breast 0.000239 0.3852 0.1048 Dislocation, sprain and strain of joints and ligaments of lumbar spine and pelvis 4.714e-05 7.219 1.774 DARS2 rs149660059 1:173853873:C:A 1 173853873 C A 1:173823011 0.994729 7361 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation;not provided;not specified Other disorders of bone density and structure 0.00102 1.0203 0.3107 Dorsopathies 0.0002606 -0.53 0.145 SERPINC1 rs121909551 1:173914743:G:A 1 173914743 G A 1:173883881 0.989604 1342 missense_variant both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Antithrombin deficiency;Reduced antithrombin III activity Other and unspecified coagulation defects 0.00013 2.7118 0.7086 Asthma (mode) 0 3.343 0 SERPINC1 rs2227624 1:173914872:A:T 1 173914872 A T 1:173884010 0.976046 902 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Ingrowing nail 0.00102 2.2989 0.6999 RC3H1 rs77941945 1:173961790:G:C 1 173961790 G C 1:173930928 0.971512 8262 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tinnitus 0.00014 0.3574 0.0939 Inguinal hernia 0.0001385 0.836 0.219 TNN rs6664276 1:175085490:G:T 1 175085490 G T 1:175054626 0.95373 429 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of arteries, arterioles and capillaries 0.00122 -0.7679 0.2375 Hypothermia 0.0003689 197.047 55.329 TNR rs61731112 1:175403578:T:G 1 175403578 T G 1:175372714 0.926295 318 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Low back pain 0.00129 0.8849 0.2749 TNR rs147204644 1:175406219:T:C 1 175406219 T C 1:175375355 0.974889 937 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Parkinson disease Type 1 diabetes with peripheral circulatory complications 0.000267 3.6093 0.9902 1.986e-05 2595.488 608.345 PAPPA2 rs61745526 1:176710175:T:C 1 176710175 T C 1:176679311 0.977989 1029 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonsuppurative otitis media 0.00085 0.7855 0.2355 Dissection of aorta 5.775e-05 1025.148 254.898 ASTN1 rs151246825 1:176882938:T:G 1 176882938 T G 1:176852074 0.975564 289 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Effects of foreign body entering through natural orifice 0.000444 1.8556 0.5283 SEC16B rs201035635 1:177936319:T:G 1 177936319 T G 1:177905454 0.994799 811 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adhesive middle ear disease 0.000459 5.5962 1.5972 SEC16B rs200132735 1:177947920:C:T 1 177947920 C T 1:177917055 0.990934 961 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings in nipple discharge synovial fluid wound secretions 0.000886 6.4842 1.9505 ABL2 rs17277288 1:179108478:T:C 1 179108478 T C 1:179077613 0.99774 800 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joint and ligaments of hip 0.00014 4.6019 1.2085 ABL2 rs55892721 1:179108917:T:A 1 179108917 T A 1:179078052 0.990959 1657 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Convulsions, not elsewhere classified 0.000375 0.6547 0.184 Melanocytic naevi of lip (other cancers excluded from controls) 0.0007539 109.472 32.492 NPHS2 rs61747728 1:179557079:C:T 1 179557079 C T 1:179526214 0.984072 0.0637963 1456 21982 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Nephrotic syndrome, idiopathic, steroid-resistant;Nephrotic syndrome, type 2, susceptibility to;Proteinuria;not provided Other diseases of urinary system 4.41e-06 0.1088 0.0237 Hypertension, essential 0.0002251 0.228 0.062 NPHS2 rs74315344 1:179575806:G:A 1 179575806 G A 1:179544941 0.905161 190 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter MS-disease / Multiple Sclerosis 0.000401 5.1778 1.4629 TOR1AIP1 rs146976883 1:179882572:C:G 1 179882572 C G 1:179851707 0.954388 0.00333163 2 1222 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to cannabinoids 8.21e-05 3.5764 0.9081 TOR1AIP1 rs199933063 1:179882863:G:A 1 179882863 G A 1:179851998 0.988231 580 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of pancreas 0.000996 3.4076 1.0352 TOR1AIP1 rs1281378 1:179882939:T:C 1 179882939 T C 1:179852074 0.99784 90004 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presbyopia 0.0021 -0.2219 0.0721 Other CVD (FINNGEN) 0.001589 0.096 0.03 TOR1AIP1 rs2245425 1:179889309:G:A 1 179889309 G A 1:179858444 0.999078 90408 pLoF recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other CVD (FINNGEN) 0.00267 0.1214 0.0404 Phobic anxiety disorders 0.002201 -0.084 0.028 TOR1AIP1 rs17279712 1:179908645:A:C 1 179908645 A C 1:179877780 0.999357 43581 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other joint disorders 0.000179 0.0512 0.0137 Adhesive capsulitis of shoulder 0.0007924 0.26 0.078 TOR1AIP1 rs149690630 1:179917634:G:A 1 179917634 G A 1:179886769 0.991051 572 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transport accidents 0.000703 6.9015 2.0369 CEP350 rs139352498 1:180075169:A:G 1 180075169 A G 1:180044304 0.991709 742 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of kidney and ureter 0.000192 2.0323 0.5449 LHX4 rs141139762 1:180266527:C:T 1 180266527 C T 1:180235662 0.954128 736 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Antenatal screening 0.000652 0.5637 0.1654 LHX4 rs16855642 1:180266593:C:T 1 180266593 C T 1:180235728 0.989584 7547 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined Pituitary Hormone Deficiency, Dominant;not specified Other diseases of intestine 0.00173 0.5439 0.1735 Heartburn 0.00032 4.638 1.289 LHX4 rs7536561 1:180274389:A:G 1 180274389 A G 1:180243524 0.994435 89973 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified nail disorders 0.000298 0.4495 0.1243 Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.0002003 -0.037 0.01 MR1 rs2236410 1:181049100:A:G 1 181049100 A G 1:181018236 0.985336 45167 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Other specified disorders of kidney and ureter 0.00095 0.3833 0.116 Behavioural disorders (more controls excluded) 0.0004612 1.109 0.317 GLUL rs189435460 1:182384646:A:C 1 182384646 A C 1:182353781 0.997244 991 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Muscle strain 0.000531 3.5217 1.0165 RNASEL rs486907 1:182585422:C:T 1 182585422 C T 1:182554557 0.99198 85934 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Simple and mucoplurulent chronic bronchitis 0.000184 -0.2645 0.0707 Other or unspecified ileus, impaction or obstruction 0.001332 -0.104 0.033 RNASEL rs74315364 1:182586014:C:A 1 182586014 C A 1:182555149 0.996055 2812 pLoF dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Prostate cancer, hereditary, 1 Injuries to the elbow and forearm 0.00102 0.2722 0.0829 2.361e-05 15.07 3.565 RNASEL rs56250729 1:182586518:T:G 1 182586518 T G 1:182555653 0.953959 2691 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Follicular lymphoma 0.000232 1.7633 0.4789 0.0001485 7.086 1.868 RNASEL rs151296858 1:182586632:C:T 1 182586632 C T 1:182555767 0.996067 2817 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the elbow and forearm 0.00141 0.2643 0.0828 1.516e-05 17.042 3.939 LAMC1 rs34995260 1:183133497:G:A 1 183133497 G A 1:183102632 0.988363 684 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified acute lower respiratory infection 0.000151 1.6644 0.4393 LAMC2 rs17481405 1:183215528:G:A 1 183215528 G A 1:183184663 0.96654 12563 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysis bullosa, junctional Follow-up examination after treatment for conditions other than malignant neoplasms 0.000164 -0.1667 0.0442 Benign neoplasm: Pituitary gland, craniopharyngeal duct 0.001311 2.669 0.83 LAMC2 rs11586699 1:183215555:C:T 1 183215555 C T 1:183184690 0.964801 13319 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epidermolysis bullosa, junctional Subjective visual disturbances 0.00244 0.2397 0.0791 Enterocolitis due to Clostridium difficile 0.001993 1.453 0.47 LAMC2 rs142335339 1:183218478:C:T 1 183218478 C T 1:183187613 0.964223 384 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Any mental disorder 0.000474 0.5012 0.1434 LAMC2 rs181894078 1:183222127:C:T 1 183222127 C T 1:183191262 0.970104 1565 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Phakomatoses, not elsewhere classified 0.000192 5.0808 1.3625 7.211e-05 7.754 1.954 LAMC2 rs2296306 1:183222189:C:A 1 183222189 C A 1:183191324 0.997114 8080 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epidermolysis bullosa, junctional SLE (Finngen) 0.000112 0.9594 0.2484 Other congenital malformations of skin 6.45e-05 6.59 1.649 LAMC2 rs141901570 1:183223255:G:A 1 183223255 G A 1:183192390 0.956958 0.000683201 0 251 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Problems related to certain psychosocial circumstances 8.93e-05 4.2549 1.086 LAMC2 rs143817389 1:183223260:A:G 1 183223260 A G 1:183192395 0.981266 233 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Single delivery by forceps and vacuum extractor 8e-04 2.399 0.7155 LAMC2 rs140949383 1:183228542:C:A 1 183228542 C A 1:183197677 0.801464 86 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spinal instabilities 0.000406 13.19 3.73 LAMC2 rs2296303 1:183232835:G:C 1 183232835 G C 1:183201970 0.997536 47794 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Long labour 0.00037 -0.1479 0.0416 Persons encountering health services for specific procedures, not carried out 0.0004866 0.579 0.166 LAMC2 rs139718245 1:183235661:C:T 1 183235661 C T 1:183204796 0.980394 94 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified dermatitis 0.000582 2.0773 0.6039 LAMC2 rs144355456 1:183235696:C:G 1 183235696 C G 1:183204831 0.979459 1084 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otherand unspecified haemorrhagic conditions 0.000838 4.8133 1.4412 LAMC2 rs144908769 1:183236573:G:C 1 183236573 G C 1:183205708 0.989529 1583 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysis bullosa, junctional Peripheral retinal degeneration 0.00128 2.2503 0.6986 Abnormalities of breathing 0 3.458 0 NCF2 rs55761650 1:183560204:G:A 1 183560204 G A 1:183529339 0.951112 190 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Volume depletion 0.00179 5.1509 1.6495 NCF2 rs759940920 1:183560243:C:T 1 183560243 C T 1:183529378 0.820786 116 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Agranulocytosis 0.000542 6.6437 1.9206 NCF2 rs35012521 1:183563229:T:A 1 183563229 T A 1:183532364 0.981182 669 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified disorders of bone/cartilage 0.00115 3.6244 1.1152 NCF2 rs17849502 1:183563445:G:T 1 183563445 G T 1:183532580 0.992467 0.0378918 642 13279 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic granulomatous disease;Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;not specified SLE (Finngen) 5.04e-08 1.1101 0.2037 SLE (Finngen) 1.002e-08 6.233 1.088 NCF2 rs2274064 1:183573252:T:C 1 183573252 T C 1:183542387 0.999474 0.472133 82208 91248 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of psychological developtment 4.35e-05 -0.1621 0.0397 0.0004301 0.084 0.024 NCF2 rs147415774 1:183590217:C:T 1 183590217 C T 1:183559352 0.98549 635 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Atypical facial pain 0.000362 3.2754 0.9184 HMCN1 rs7539719 1:185989605:A:G 1 185989605 A G 1:185958737 0.99034 4770 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular degeneration Dislocation, sprain and strain of joints and ligaments at neck level 0.00031 0.5647 0.1566 Early onset COPD 0.001162 2.826 0.87 HMCN1 rs527332989 1:185994833:G:A 1 185994833 G A 1:185963965 0.800442 70 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities and pulmonary embolism 0.000218 3.1832 0.8609 HMCN1 rs146418772 1:185995004:C:T 1 185995004 C T 1:185964136 0.988655 9675 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular degeneration Congenital deformities of hip 0.000276 1.404 0.3861 Other arterial embolism and thrombosis 0.0002615 7.732 2.118 HMCN1 rs146532107 1:186007167:C:G 1 186007167 C G 1:185976299 0.952471 387 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Migraine, single triptan purchase ok & required. ICD-code if available is included 0.000753 0.8456 0.2509 HMCN1 rs41317471 1:186007238:A:G 1 186007238 A G 1:185976370 0.98007 4280 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular degeneration;not provided;not specified Other/unspecified rheumatoid arthritis 0.000963 0.5812 0.1761 Other female pelvic inflammatory diseases 0.000115 5.615 1.456 HMCN1 rs12067376 1:186055511:G:A 1 186055511 G A 1:186024643 0.987816 2124 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular degeneration Calculus of lower urinary tract 0.00212 1.4259 0.4641 Burn and corrosion of trunk 0.001255 69.582 21.568 HMCN1 rs12129650 1:186057342:T:C 1 186057342 T C 1:186026474 0.997577 91919 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alcohol abuse counselling and surveillance 0.000256 -0.5062 0.1385 Hyperaldosteronism 0.0007792 0.249 0.074 HMCN1 rs10798035 1:186081285:A:G 1 186081285 A G 1:186050417 0.999688 91732 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Enlarged lymph nodes 0.000547 -0.12 0.0347 Melanocytic naevi of trunk (other cancers excluded from controls) 0.0001202 -0.134 0.035 HMCN1 rs74967568 1:186082892:G:A 1 186082892 G A 1:186052024 0.974597 2555 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular degeneration;not specified Male infertility 0.00181 1.3258 0.4249 Mental and behabioural disorders of puerperum, not classified elsewhere 0.001194 72.589 22.401 HMCN1 rs140493567 1:186103516:G:A 1 186103516 G A 1:186072648 0.956683 290 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic hepatitis, not elsewhere classified 0.00184 5.6605 1.8174 HMCN1 rs144994573 1:186119868:A:G 1 186119868 A G 1:186089000 0.999152 2923 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular degeneration Cerebral cysts 0.00128 1.1868 0.3686 Vasomotor rhinitis (mode) 0.0003024 17.808 4.929 HMCN1 rs41317489 1:186122971:C:T 1 186122971 C T 1:186092103 0.997385 2098 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular degeneration Other retinal artery occlusion 0.00218 2.5605 0.8356 Burn and corrosion of trunk 0.001258 68.986 21.389 HMCN1 rs10911825 1:186132407:A:G 1 186132407 A G 1:186101539 0.997542 81738 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abdominal and pelvic pain 0.000587 -0.0302 0.0088 Hypertensive diseases 0.0002053 -0.042 0.011 HMCN1 rs6693069 1:186144595:G:A 1 186144595 G A 1:186113727 0.997214 2102 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular degeneration;not provided Other retinal artery occlusion 0.00217 2.5642 0.8364 Burn and corrosion of trunk 0.001254 69.672 21.594 HMCN1 rs114364265 1:186152863:A:T 1 186152863 A T 1:186121995 0.978477 4060 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular degeneration;not specified Disorders of lacrimal system 0.000506 0.3485 0.1002 Congenital deformities of feet 0.0004101 15.689 4.44 HMCN1 rs114629728 1:186152864:C:T 1 186152864 C T 1:186121996 0.978643 4061 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular degeneration;not specified Disorders of lacrimal system 0.000514 0.3479 0.1002 Congenital deformities of feet 0.0004098 15.692 4.441 HMCN1 rs41317507 1:186165114:A:T 1 186165114 A T 1:186134246 0.996067 4507 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular degeneration Dislocation, sprain and strain of joints and ligaments at neck level 0.000215 0.5978 0.1615 Early onset COPD 0.0008096 3.099 0.925 HMCN1 rs147769095 1:186166883:G:A 1 186166883 G A 1:186136015 0.971723 165 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spontaneous rupture of synovium and tendon 0.000425 5.5615 1.5781 0 3.5 0 HMCN1 rs75161007 1:186172049:C:G 1 186172049 C G 1:186141181 0.992132 6887 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular degeneration Synovial hypertrophy, not elsewhere classified 0.000391 1.9587 0.5523 Chronic nephritic syndrome 0.0006197 5.749 1.68 HMCN1 rs147189545 1:186178593:G:A 1 186178593 G A 1:186147725 0.99217 5016 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular degeneration Amenorrhoea 0.000573 0.7189 0.2087 Symptoms and signs involving emotional state 0.0002679 17.923 4.918 PRG4 rs2273779 1:186304862:C:T 1 186304862 C T 1:186273994 0.998073 74923 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Unstable angina pectoris 0.000568 0.085 0.0247 0.0008221 0.031 0.009 PRG4 rs150072104 1:186311103:G:A 1 186311103 G A 1:186280235 0.997242 1189 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving cognition, perception, emotional state and behaviour 0.00134 0.3312 0.1032 Macular cyst 0.0004509 166.022 47.322 TPR rs115482159 1:186332304:C:T 1 186332304 C T 1:186301436 0.988698 0.00530502 16 1933 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hemiplegia 8.05e-05 1.8479 0.4687 0.000785 100.994 30.076 TPR rs200209324 1:186345677:G:A 1 186345677 G A 1:186314809 0.966105 322 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of digestive organs (other cancers excluded from controls) 0.000292 1.4624 0.4037 TPR rs199892357 1:186360827:A:G 1 186360827 A G 1:186329959 0.997349 0.00670408 28 2435 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Intellectual disability Pain and other conditions associated with female genital organs and menstrual cycle 9.65e-05 0.7147 0.1833 Benign neoplasm of mouth and pharynx 0.0006767 12.487 3.674 PLA2G4A rs145818677 1:186894188:G:A 1 186894188 G A 1:186863320 0.994419 5629 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cyst of Bartholin Gland 0.00261 0.832 0.2764 Paroxysmal tachycardia 0.0009018 2.184 0.658 PLA2G4A rs28395831 1:186977737:A:G 1 186977737 A G 1:186946869 0.992782 731 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hammer toe(s) (acquired) 0.000131 1.6128 0.4218 CFH rs800292 1:196673103:G:A 1 196673103 G A 1:196642233 0.999831 0.291055 31154 75776 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Age-related macular degeneration (whether dry or wet) 6.52e-65 -0.5725 0.0336 Age-related macular degeneration (whether dry or wet) 9.573e-17 -0.325 0.039 CFH rs1061170 1:196690107:C:T 1 196690107 C T 1:196659237 0.999504 0.563965 117416 89778 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Age-related macular degeneration (whether dry or wet) 3.72e-93 -0.6101 0.0298 Age-related macular degeneration (whether dry or wet) 1.221e-43 -0.319 0.023 CFH rs1065489 1:196740644:G:T 1 196740644 G T 1:196709774 0.999855 45537 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and ill-defined parts of digestive system 0.000803 0.1592 0.0475 Seborrhoeic dermatitis 0.0002828 0.424 0.117 CFH rs149474608 1:196740686:G:T 1 196740686 G T 1:196709816 0.97228 636 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Left bundle-branch block 0.000295 2.9371 0.8114 CFH rs35274867 1:196743466:A:T 1 196743466 A T 1:196712596 0.993943 3440 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atypical hemolytic uremic syndrome;Basal laminar drusen;Macular degeneration;Mesangiocapillary glomerulonephritis, type II Contracture of joint 0.000597 2.3533 0.6855 0.002893 34.454 11.566 CFHR3 rs138839071 1:196788400:T:C 1 196788400 T C 1:196757530 0.944904 1200 pLoF both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of central nervous system 0.000393 3.2419 0.9146 Sixth [abducent] nerve palsy 0.001389 63.856 19.974 CFHR3 rs139520520 1:196793325:A:G 1 196793325 A G 1:196762455 0.880157 135 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of lower limb, including hip 0.000813 10.5195 3.1417 CFHR4 rs181498339 1:196912908:A:T 1 196912908 A T 1:196882038 0.946181 589 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other orthopaedic follow-up care 0.00145 2.4794 0.7788 CFHR2 rs145405649 1:196950923:A:G 1 196950923 A G 1:196920053 0.976133 4500 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 0.000132 0.1675 0.0438 Other diseases of arteries and capillaries 0.0001902 6.866 1.84 CFHR2 rs41257904 1:196958055:G:T 1 196958055 G T 1:196927185 0.998248 9409 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Volume depletion 0.00136 0.5245 0.1638 Iron deficiency anaemia 0.0001034 1.341 0.345 CFHR5 rs9427662 1:196977645:T:C 1 196977645 T C 1:196946775 0.999806 0.0699751 1886 23822 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Age-related macular degeneration (whether dry or wet) 7.71e-06 -0.2627 0.0587 Noninfective enteritis and colitis 0.0001778 0.348 0.093 CFHR5 rs12097550 1:196982962:C:T 1 196982962 C T 1:196952092 0.908789 0.000617875 2 225 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperaldosteronism 4.07e-06 16.499 3.5808 CFHR5 rs565457964 1:196994128:C:CA 1 196994128 C CA 1:196963258 0.971572 0.000762137 0 280 pLoF dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Spondylolisthesis/Spondylolysis 5.59e-05 2.771 0.6876 CFHR5 rs565457964 1:196994128:C:CAA 1 196994128 C CAA 1:196963258 0.986447 0.0401347 602 14143 pLoF dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mesangiocapillary glomerulonephritis, type II Age-related macular degeneration (whether dry or wet) 6.39e-14 -0.595 0.0793 0.0002831 0.41 0.113 CFHR5 rs41299613 1:196995731:T:C 1 196995731 T C 1:196964861 0.984784 378 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.000207 2.5189 0.679 CFHR5 rs139017763 1:196996063:G:A 1 196996063 G A 1:196965193 0.986858 0.0214433 166 7712 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Age-related macular degeneration (whether dry or wet) 2.7e-05 -0.4281 0.102 Colitis, primary sclerosing, strict definition 0.000226 21.244 5.76 CFHR5 rs35662416 1:196998224:G:A 1 196998224 G A 1:196967354 0.991117 6303 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other disorders of patella 0.001 -0.3467 0.1054 malignant neoplasm of female genital organs 0.001156 2.14 0.659 CFHR5 rs141321678 1:197008514:T:G 1 197008514 T G 1:196977644 0.979881 389 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fibroblastic disorders 0.00103 1.4007 0.4269 Disorders of lipoprotein metabolism and other lipidaemias 0.0007691 3.921 1.166 F13B rs201427054 1:197055784:A:G 1 197055784 A G 1:197024914 0.995547 0.000854682 0 314 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Wide developmental disorders 5.79e-05 8.6688 2.1559 F13B rs5991 1:197057021:T:A 1 197057021 T A 1:197026151 0.976634 681 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Factor XIII subunit B deficiency Certain disorders involving the immune mechanism 0.000969 1.211 0.367 Dronedarone medication 0.001613 53.97 17.114 F13B rs17514281 1:197057159:A:G 1 197057159 A G 1:197026289 0.979302 0.00209315 2 767 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Any gastric operation 6.87e-05 0.3287 0.0826 F13B rs6003 1:197061891:C:T 1 197061891 C T 1:197031021 0.999743 0.930071 317896 23801 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Age-related macular degeneration (whether dry or wet) 1.25e-05 0.2568 0.0588 Age-related macular degeneration (whether dry or wet) 1.814e-05 0.132 0.031 ASPM rs142901223 1:197090349:A:C 1 197090349 A C 1:197059479 0.977765 157 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Idiopathic thrombocytopenic purpura 0.000684 11.1557 3.2849 ASPM rs36004306 1:197091956:A:C 1 197091956 A C 1:197061086 0.996417 8173 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary Microcephaly, Recessive;Primary autosomal recessive microcephaly 5;not provided;not specified Benign neoplasm: Vagina 0.000891 1.3508 0.4065 Other and unspecified disorders of vitreous body 0.001531 1.376 0.434 ASPM rs199503603 1:197093050:A:G 1 197093050 A G 1:197062180 0.987783 173 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diseases of spleen 0.00151 17.8534 5.6283 ASPM rs3762271 1:197101312:G:T 1 197101312 G T 1:197070442 0.994582 0.380595 53308 86518 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal tubulo-intestitial diseases 4.89e-05 0.0539 0.0133 Retinal vein occlusion (central or branch) 0.0001777 0.324 0.086 ASPM rs12138336 1:197101391:C:G 1 197101391 C G 1:197070521 0.989019 0.0582545 1270 20132 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary Microcephaly, Recessive;Primary autosomal recessive microcephaly 5;not provided;not specified Age-related macular degeneration (whether dry or wet) 1.6e-11 -0.4371 0.0649 Unspecified diabetes with multiple/unspecified complications 0.0009513 1.855 0.561 ASPM rs41310927 1:197101567:T:C 1 197101567 T C 1:197070697 0.994279 0.380611 53310 86522 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal tubulo-intestitial diseases 4.83e-05 0.0539 0.0133 Retinal vein occlusion (central or branch) 0.0001759 0.324 0.086 ASPM rs964201 1:197101771:A:G 1 197101771 A G 1:197070901 0.983419 605 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other congenital malformations of ear 0.000552 -7.3733 2.1346 Other congenital malformations of ear 0.0005419 -3.694 1.068 ASPM rs141715950 1:197103304:T:A 1 197103304 T A 1:197072434 0.984857 671 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary autosomal recessive microcephaly 5;not provided;not specified Other and unspecified mental retardation 0.000125 7.5442 1.9665 Benign neoplasm: Skin of upper limb, including shoulder 0.0009186 91.639 27.649 ASPM rs147466865 1:197103418:T:C 1 197103418 T C 1:197072548 0.945064 293 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Horner syndrome 0.000304 14.7238 4.0769 ASPM rs41299625 1:197103799:G:A 1 197103799 G A 1:197072929 0.986387 268 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behavioural disorders due to sedatives or hypnotics 0.000612 5.187 1.5139 ASPM rs41299623 1:197104066:G:A 1 197104066 G A 1:197073196 0.997922 1084 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injuries to the hip and thigh 0.000328 -0.6798 0.1892 ASPM rs139367209 1:197105038:G:A 1 197105038 G A 1:197074168 0.994858 0.00191079 4 698 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary Microcephaly, Recessive;not provided;not specified Toxic effect of contact with venomous animals 8.14e-05 4.31 1.0938 Cholelithiasis, broad definition with cholecystitis 0 7.595 0 ASPM rs60950503 1:197142520:C:T 1 197142520 C T 1:197111650 0.98124 2735 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Meniere disease 0.000942 0.8365 0.2529 Cholelithiasis 0.0008483 2.049 0.614 CRB1 rs201609001 1:197268441:T:C 1 197268441 T C 1:197237571 0.991417 1253 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Mental and behabioural disorders of puerperum, not classified elsewhere (more controls excluded) 0.00016 7.1955 1.9064 CRB1 rs137853138 1:197328835:G:A 1 197328835 G A 1:197297965 0.978029 240 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Hypopituitarism 0.000445 5.6224 1.6009 CRB1 rs116246250 1:197435260:G:A 1 197435260 G A 1:197404390 0.996635 2423 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leber congenital amaurosis;Pigmented paravenous chorioretinal atrophy;Retinitis Pigmentosa, Recessive Supervision of high-risk pregnancy 0.000793 -0.3846 0.1146 Carcinoma in situ of breast, other/unspecified 0.001248 68.636 21.265 CRB1 rs142090517 1:197435558:A:G 1 197435558 A G 1:197404688 0.983963 0.00221292 2 811 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Soft tissue disorders 2.08e-05 -0.3962 0.0931 PTPRC rs41269905 1:198699632:G:C 1 198699632 G C 1:198668761 0.99871 0.04434 658 15632 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified Papulosquamous disorders 5.75e-05 -0.2078 0.0517 Drug-induced hypoglycaemia without coma 0.001258 4.516 1.4 PTPRC rs4915154 1:198702524:A:G 1 198702524 A G 1:198671653 0.991208 934 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behavioural disorders due to tobacco 0.00088 1.9813 0.5956 PTPRC rs142941257 1:198706830:G:T 1 198706830 G T 1:198675959 0.982783 316 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm of ovary (other cancers excluded from controls) 0.000538 2.1274 0.6146 PTPRC rs2230606 1:198706934:A:C 1 198706934 A C 1:198676063 0.998725 0.0443754 656 15647 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified Papulosquamous disorders 5.96e-05 -0.2074 0.0517 Drug-induced hypoglycaemia without coma 0.001281 4.491 1.395 PTPRC rs41314039 1:198708210:A:G 1 198708210 A G 1:198677339 0.964944 146 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inguinal hernia 0.000907 1.1156 0.3362 NR5A2 rs61755054 1:200048706:G:C 1 200048706 G C 1:200017834 0.978121 0.00108332 0 398 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of trunk (other cancers excluded from controls) 8.27e-05 3.2599 0.8281 KIF14 rs77157287 1:200565127:T:A 1 200565127 T A 1:200534255 0.983917 2778 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Brachial plexus disorders 0.000475 0.9986 0.2858 0.0003577 -1.538 0.431 KIF14 rs75449932 1:200565523:T:G 1 200565523 T G 1:200534651 0.989284 4769 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided ILD differential diagnosis 0.00158 0.0976 0.0309 Unspecified abortion 0.002216 8.221 2.687 KIF14 rs145426227 1:200569952:T:C 1 200569952 T C 1:200539080 0.991849 2354 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lipoprotein metabolism and other lipidaemias 0.000258 -0.3398 0.093 Hyperprolactinaemia 0.0002411 20.327 5.536 KIF14 rs142457309 1:200569983:T:C 1 200569983 T C 1:200539111 0.98687 2099 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic amputation of wrist and hand 0.00207 1.4644 0.4755 Other meningitis 0.001629 55.657 17.666 KIF14 rs77828651 1:200617637:C:T 1 200617637 C T 1:200586765 0.997179 2264 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Chronic iridocyclitis 0.00159 1.3594 0.4306 Charcot foot 0.0009779 84.515 25.635 DDX59 rs142176836 1:200648497:C:T 1 200648497 C T 1:200617625 0.997457 5379 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified disorders of synovium and tendon +Other specified/unspecified bursopathies 0.000216 0.9503 0.2569 Other disorders of breast 6.604e-05 4.264 1.069 DDX59 rs147684909 1:200663945:G:T 1 200663945 G T 1:200633073 0.996035 0.00608349 16 2219 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis 1.51e-05 -0.361 0.0834 Malignant neoplasm of bladder 8.316e-05 29.42 7.476 CAMSAP2 rs6674599 1:200849852:C:G 1 200849852 C G 1:200818980 0.981266 967 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cushing syndrome 0.00024 6.6016 1.7977 Injury of muscle and tendon at forearm level 0.001014 81.447 24.781 C1orf106 rs41269923 1:200898444:T:A 1 200898444 T A 1:200867572 0.951087 0.00289884 6 1059 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular hole 3.4e-05 3.747 0.904 Chrystal arthropathies, rheuma endpoint 0.0003002 228.752 63.277 CACNA1S rs72749169 1:201039883:C:T 1 201039883 C T 1:201009011 0.978522 638 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other deformities of toe(s) 0.000288 3.9935 1.1014 CACNA1S rs149547196 1:201039938:G:A 1 201039938 G A 1:201009066 0.946929 222 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic diffuse goitre 0.00055 7.8342 2.2673 CACNA1S rs12139527 1:201040054:A:G 1 201040054 A G 1:201009182 0.992371 0.142827 7708 44765 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Residual foreign body in soft tissue 1.31e-05 0.3876 0.0889 Dislocation, sprain and strain of joints and ligaments of knee 4.616e-05 -0.151 0.037 CACNA1S rs13374149 1:201043356:C:T 1 201043356 C T 1:201012484 0.994661 19794 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypokalemic periodic paralysis;Malignant hyperthermia susceptibility;not specified Other obstructed labour 0.000341 0.4921 0.1374 Other and unspecified iron deficiency 0.0007761 0.562 0.167 CACNA1S rs147392278 1:201043357:G:A 1 201043357 G A 1:201012485 0.934068 142 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities and pulmonary embolism 0.000614 1.7032 0.4973 CACNA1S rs3850625 1:201047168:G:A 1 201047168 G A 1:201016296 0.983314 45316 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary parkinsonism+Parkinsonism in other disease 0.000384 0.3955 0.1114 Enterocolitis due to Clostridium difficile 0.000232 0.424 0.115 CACNA1S rs145910245 1:201051037:T:A 1 201051037 T A 1:201020165 0.983981 828 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Generalized epilepsy, mode (most common among epilepsy diagnosis) 0.00132 2.0973 0.6532 CACNA1S rs142356235 1:201076930:C:T 1 201076930 C T 1:201046058 0.997903 6169 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not provided;not specified Acute appendicitis 0.00016 -0.1916 0.0508 Osteonecrosis 0.003221 6.136 2.083 CACNA1S rs140662085 1:201077951:G:A 1 201077951 G A 1:201047079 0.995424 4452 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified Other disorders of prostate 0.000411 1.3854 0.3921 0.0006298 13.312 3.894 CACNA1S rs150590855 1:201078005:C:A 1 201078005 C A 1:201047133 0.805275 71 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Keratoconus 0.000324 25.7249 7.1548 CACNA1S rs12742169 1:201083182:A:T 1 201083182 A T 1:201052310 0.994826 64919 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Proliferative diabetic retinopathy 0.000452 -0.0769 0.0219 Intestinal adhesions without obstruction 0.0001235 0.303 0.079 CACNA1S rs202217590 1:201083230:A:G 1 201083230 A G 1:201052358 0.978532 393 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified erythematous conditions 0.000486 6.5682 1.8828 CACNA1S rs150954040 1:201085474:G:A 1 201085474 G A 1:201054602 0.994547 1177 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cauda equina syndrome 0.000483 5.5659 1.5947 Helminthiases 0.0002717 255.382 70.143 CACNA1S rs35534614 1:201089385:C:T 1 201089385 C T 1:201058513 0.935239 641 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified disorders of white blood cells 0.000187 4.6392 1.2415 CACNA1S rs12406479 1:201110216:G:C 1 201110216 G C 1:201079344 0.985949 15679 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypokalemic periodic paralysis;Hypokalemic periodic paralysis 1;Malignant hyperthermia susceptibility;Malignant hyperthermia susceptibility type 5;not specified Benign neoplasm: Short bones of upper limb 0.000603 0.9751 0.2843 Lesion of sciatic nerve 0.0005444 1.74 0.503 PKP1 rs35507614 1:201313445:A:G 1 201313445 A G 1:201282573 0.998536 0.0521656 1088 18077 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectodermal dysplasia skin fragility syndrome Visual field defects 3.87e-05 0.4544 0.1104 Hydrocephalus 0.0005443 1.75 0.506 PKP1 rs78672252 1:201320370:T:C 1 201320370 T C 1:201289498 0.948445 1004 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ectodermal dysplasia skin fragility syndrome Problems related to employment and unemployment 0.00138 4.2412 1.3257 Deforming dorsopathies 0.0006694 17.304 5.087 PKP1 rs61818256 1:201325782:C:T 1 201325782 C T 1:201294910 0.971346 14141 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectodermal dysplasia skin fragility syndrome Carcinoma in situ of cervix uteri (other cancers excluded from controls) 0.000159 0.9864 0.2612 Other malignant neoplasms of skin (=non-melanoma skin cancer) 0.001349 0.53 0.165 TNNT2 rs3730238 1:201361301:T:C 1 201361301 T C 1:201330429 0.996337 18930 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;Left ventricular noncompaction cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided;not specified Benign neoplasm: Peripheral nerves and autonomic nervous system (other cancers excluded from controls) 0.000507 0.8836 0.2541 Social disorders starting during childhood or adolecense (more controls excluded) 0.001094 4.442 1.361 LAD1 rs143280381 1:201387170:C:T 1 201387170 C T 1:201356298 0.883987 78 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter malignant neoplasm of female genital organs 0.000324 4.7825 1.3303 KDM5B rs34216958 1:202730940:C:T 1 202730940 C T 1:202700068 0.927297 589 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense 0.00103 9.4918 2.891 KDM5B rs144390145 1:202746142:C:T 1 202746142 C T 1:202715270 0.964025 3023 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified myopathies 0.000236 1.0676 0.2904 Spinal enthesopathy 0.0002339 17.88 4.86 CHIT1 rs1065761 1:203216965:G:C 1 203216965 G C 1:203186093 0.995618 49369 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Perichondritis of external ear 0.000262 -0.5538 0.1517 Hypertension 0.0002159 0.083 0.022 CHIT1 rs2297947 1:203217735:T:C 1 203217735 T C 1:203186863 0.897736 297 LC recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other surgical follow-up care 0.00023 9.469 2.5709 CHIT1 rs536102546 1:203219251:CCCACTGGTTGTCCCGGAAGATGTAGGGCA:C 1 203219251 CCCACTGGTTGTCCCGGAAGATGTAGGGCA C 1:203188379 0.956133 3319 pLoF recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of pericardium 0.000716 1.6298 0.4817 Migraine with aura 0.001683 3.492 1.112 CHIT1 rs2297950 1:203225058:C:T 1 203225058 C T 1:203194186 0.996272 79553 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Supervision of high-risk pregnancy 0.000291 0.0736 0.0203 Supervision of high-risk pregnancy 0.0004134 0.078 0.022 CHIT1 rs137852607 1:203225706:C:T 1 203225706 C T 1:203194834 0.996464 1324 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chitotriosidase deficiency Pregnancy, childbirth and the puerperium 0.000354 -0.2984 0.0835 0.0005458 1.426 0.413 CHIT1 rs146692911 1:203225837:T:C 1 203225837 T C 1:203194965 0.962353 184 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of ocular muscles, binocular movement, accommodation and refraction 0.000298 1.7541 0.485 OPTC rs79523790 1:203502984:T:C 1 203502984 T C 1:203472112 0.992954 14375 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyrotoxicosis 0.000178 0.2524 0.0673 Other and unspecified polyneuropathies, also in other diseases 0.0002661 1.115 0.306 ATP2B4 rs146234576 1:203683224:C:A 1 203683224 C A 1:203652352 0.993454 9439 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing hyperostosis [Forestier] 0.000186 1.6231 0.4344 Other specified/unspecified bacterial intestinal infections 0.001107 3.01 0.923 ATP2B4 rs142206068 1:203700885:G:T 1 203700885 G T 1:203670013 0.994472 9561 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing hyperostosis [Forestier] 0.000216 1.5906 0.43 Other specified/unspecified bacterial intestinal infections 0.001119 3.001 0.921 ATP2B4 rs147729934 1:203711058:G:A 1 203711058 G A 1:203680186 0.977502 3871 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructed labour due to malposition and malpresentation of fetus 0.000753 0.4705 0.1396 Prurigo nodularis 4.531e-05 42.514 10.424 ATP2B4 rs148156799 1:203727420:C:T 1 203727420 C T 1:203696548 0.987672 2786 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of thorax 0.00085 2.4392 0.7312 Astigmatism 0.0001014 35.725 9.19 KISS1 rs945422971 1:204190483:CT:C 1 204190483 CT C 1:204159611 0.998704 58526 LC recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinal enthesopathy 0.00174 0.2679 0.0856 Emphysema 0.0003643 0.44 0.123 PPP1R15B rs149785262 1:204411276:C:T 1 204411276 C T 1:204380404 0.981405 0.00126569 2 463 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-small cell lung cancer, adenocarcinoma 3.96e-05 4.8458 1.179 PIK3C2B rs61740701 1:204468985:G:T 1 204468985 G T 1:204438113 0.983227 4025 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Femoral hernia, unilateral 2e-04 1.6901 0.4544 Other other unspecified disorders of the circulatory system 0.002138 15.978 5.204 MDM4 rs41299595 1:204549329:A:C 1 204549329 A C 1:204518457 0.979567 1417 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Hydrocephalus 0.000283 2.0874 0.575 Small cell lung cancer (other cancers excluded from controls) 0.000745 108.138 32.065 NFASC rs3795564 1:204954892:C:T 1 204954892 C T 1:204924020 0.987743 15395 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Optic atrophy 0.000376 1.0355 0.2912 Optic atrophy 0.001706 4.056 1.293 NFASC rs56223230 1:204975313:G:A 1 204975313 G A 1:204944441 0.998226 0.0182477 134 6570 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General symptoms and signs 4.18e-06 -0.1464 0.0318 Calcaneal spur 0.0003611 17.236 4.832 NFASC rs55778126 1:204975408:A:G 1 204975408 A G 1:204944536 0.998238 0.0182477 134 6570 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General symptoms and signs 4.17e-06 -0.1465 0.0318 Calcaneal spur 0.0003611 17.236 4.832 CNTN2 rs142502980 1:205059101:C:T 1 205059101 C T 1:205028229 0.940409 207 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormal serum enzyme levels 0.000758 2.2087 0.6558 CNTN2 rs139732336 1:205061394:C:T 1 205061394 C T 1:205030522 0.994447 5358 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epilepsy, familial adult myoclonic, 5 CR(E)ST syndrome 0.000106 2.3977 0.6184 Malignant neoplasm of other connective and soft tissue 0.0003247 18.376 5.112 CNTN2 rs2229866 1:205061988:C:T 1 205061988 C T 1:205031116 0.993986 0.378053 52396 86496 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nutritional anaemias 1.38e-05 0.0863 0.0199 Dislocation, sprain and strain of joints and ligaments of shoulder girdle 9.274e-05 0.095 0.024 CNTN2 rs79431021 1:205064390:C:G 1 205064390 C G 1:205033518 0.956205 899 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries of lower limb 0.00124 1.533 0.4748 CNTN2 rs116647440 1:205064691:C:T 1 205064691 C T 1:205033819 0.982061 255 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcer of oesophagus 0.000756 3.8778 1.1512 CNTN2 rs41264871 1:205066599:A:G 1 205066599 A G 1:205035727 0.983872 8948 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy, familial adult myoclonic, 5 Diabetic neuropathy 0.00117 -0.4595 0.1415 Family history of malignant neoplasm 0.0003099 4.239 1.175 DSTYK rs3851294 1:205161285:A:G 1 205161285 A G 1:205130413 0.999692 0.918495 310036 27408 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Palmar fascial fibromatosis [Dupuytren] 2.49e-05 -0.2531 0.06 Palmar fascial fibromatosis [Dupuytren] 4.188e-05 -0.131 0.032 PM20D1 rs114776144 1:205832628:C:T 1 205832628 C T 1:205801756 0.988503 4634 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Outcome of delivery 0.000768 0.345 0.1026 Other diseases of intestine 0.002131 7.383 2.404 PM20D1 rs139066269 1:205843751:A:G 1 205843751 A G 1:205812879 0.988079 552 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of prostate 0.000796 0.9849 0.2936 SLC26A9 rs6669481 1:205915146:T:C 1 205915146 T C 1:205884274 0.980082 33888 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myocarditis 0.000533 0.3273 0.0945 Hypopituitarism 0.0007422 0.693 0.205 SLC26A9 rs16856462 1:205918853:T:C 1 205918853 T C 1:205887981 0.99823 17161 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hypoparathyroidism 0.00124 -0.5566 0.1723 Obstructed labour due to maternal pelvic abnormality 0.0001822 1.18 0.315 IKBKE rs189899329 1:206476843:G:A 1 206476843 G A 1:206650186 0.850209 125 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dorsalgia 0.00189 -0.9684 0.3117 IL10 rs145922845 1:206772393:C:T 1 206772393 C T 1:206945738 0.993971 0.00139907 0 514 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cirrhosis, broad definition used in the article https://doi.org/10.1101/594523 8.45e-05 2.4452 0.622 IL24 rs150080259 1:206902976:T:G 1 206902976 T G 1:207076321 0.817463 50 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis 0.000603 3.8477 1.1217 PIGR rs291102 1:206933133:G:A 1 206933133 G A 1:207106478 0.98323 2318 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Berger disease Spondylopathies 0.000661 0.3028 0.0889 Ectopic pregnancy 0.0003241 15.662 4.356 C4BPA rs4844573 1:207131555:T:C 1 207131555 T C 1:207304900 0.995092 90464 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myeloproliferative diseases (CML excluded) 0.00048 0.2147 0.0615 Wegener granulomatosis 0.0006529 -0.34 0.1 CR2 rs563764676 1:207466886:C:T 1 207466886 C T 1:207640231 0.925276 244 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diseases of male genital organs 0.0013 0.8291 0.2578 CR2 rs75282758 1:207468605:C:T 1 207468605 C T 1:207641950 0.959343 347 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of blood and blood-forming organs 0.000298 2.0362 0.5629 CR2 rs34349246 1:207472818:C:T 1 207472818 C T 1:207646163 0.992538 5435 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified abdominal hernia 0.000202 1.1801 0.3175 Medication related adverse effects (Asthma/COPD) 0.0003185 0.908 0.252 CR2 rs17615 1:207473117:G:A 1 207473117 G A 1:207646462 0.997796 65192 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes 0.00095 0.0894 0.0271 Psoriasis (vulgaris), strict definition 0.0001185 0.586 0.152 CR2 rs4308977 1:207473553:T:C 1 207473553 T C 1:207646898 0.996127 64686 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Antepartum haemorrhage, not elsewhere classified 0.000773 -0.1958 0.0582 0.0001099 0.365 0.094 CR2 rs17616 1:207473578:G:A 1 207473578 G A 1:207646923 0.996109 64688 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Antepartum haemorrhage, not elsewhere classified 0.000775 -0.1958 0.0582 0.0001091 0.365 0.094 CR2 rs144572703 1:207475111:G:T 1 207475111 G T 1:207648456 0.976858 210 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Reactive arthropathies 0.00075 3.8866 1.1531 CR2 rs140808707 1:207475154:G:A 1 207475154 G A 1:207648499 0.989744 0.0034024 8 1242 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Common variable immunodeficiency 7 Benign neoplasm of thyroid gland (other cancers excluded from controls) 5.29e-05 3.3738 0.8346 Other and unspecified vasculitis limited to skin 0.00135 64.281 20.056 CR2 rs17618 1:207480019:A:G 1 207480019 A G 1:207653364 0.989084 23857 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bell's palsy 0.00246 0.2379 0.0786 Immunodeficiencies 0.0002244 1.452 0.393 CR2 rs17617 1:207480050:C:A 1 207480050 C A 1:207653395 0.988437 44865 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Drug-induced osteoporosis with pathological fracture 0.000156 -0.7587 0.2006 Injuries to the knee and lower leg 0.0004307 -0.029 0.008 CD46 rs35366573 1:207785101:C:T 1 207785101 C T 1:207958446 0.983235 17864 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Atypical hemolytic uremic syndrome Ulcerative proctitis 0.000589 0.4401 0.128 Impotence 3.131e-05 2.471 0.593 CD46 rs146803767 1:207790273:C:T 1 207790273 C T 1:207963618 0.991009 564 missense_variant both Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Vascular diseases of the intestine 2e-04 5.3131 1.4287 PLXNA2 rs41309627 1:208079336:T:C 1 208079336 T C 1:208252681 0.951747 600 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectosigmoid junction 0.00153 3.3274 1.0499 PLXNA2 rs150558490 1:208096748:C:T 1 208096748 C T 1:208270093 0.87777 413 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectum (other cancers excluded from controls) 0.00113 2.2157 0.6803 PLXNA2 rs142871447 1:208217558:G:T 1 208217558 G T 1:208390903 0.948037 0.00394134 12 1436 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Anus and anal canal (other cancers excluded from controls) 6.95e-05 3.3848 0.8509 Contusion of other and unspecified parts of foot 0.002129 38.913 12.668 PLXNA2 rs79601528 1:208217682:C:A 1 208217682 C A 1:208391027 0.929063 916 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effects of substances chiefly nonmedicinal as to source 0.00136 1.354 0.4227 Vertigo of central origin 0.00148 57.487 18.086 LAMB3 rs115712132 1:209615386:C:T 1 209615386 C T 1:209788731 0.938221 330 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Unspecified abortion 0.0011 4.1569 1.2733 LAMB3 rs2229467 1:209617996:G:A 1 209617996 G A 1:209791341 0.984619 0.00102889 0 378 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Family history of malignant neoplasm 7.87e-05 4.2065 1.0654 LAMB3 rs2076222 1:209618584:G:T 1 209618584 G T 1:209791929 0.99902 5324 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysis bullosa, junctional;not specified Any dementia 0.000146 0.3609 0.095 Pterygium 0.0007254 12.265 3.629 LAMB3 rs12748250 1:209622984:T:A 1 209622984 T A 1:209796329 0.99645 38832 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Connective and other soft tissue, unspecified (other cancers excluded from controls) 0.000327 0.7339 0.2043 Other disorders of the genitourinary system 0.0006967 0.406 0.12 LAMB3 rs2229466 1:209623908:T:C 1 209623908 T C 1:209797253 0.998465 5322 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epidermolysis bullosa, junctional Any dementia 0.000116 0.3676 0.0954 Pterygium 0.0007185 12.302 3.637 LAMB3 rs80356682 1:209625721:G:A 1 209625721 G A 1:209799066 0.974915 0.000530774 0 195 pLoF both Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsuppurative otitis media 6.57e-06 3.316 0.7357 LAMB3 rs2076349 1:209626885:C:T 1 209626885 C T 1:209800230 0.991267 7463 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysis bullosa, junctional;not specified Other and unspecified acne 0.000183 2.0474 0.5471 Gestational diabetes (for exclusion) 0.002518 1.218 0.403 LAMB3 rs52814161 1:209629854:A:G 1 209629854 A G 1:209803199 0.986141 0.0122323 78 4416 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Epidermolysis bullosa, junctional Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 7.12e-05 2.9901 0.7528 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.0001992 32.58 8.758 LAMB3 rs114394307 1:209630647:G:A 1 209630647 G A 1:209803992 0.992317 492 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other pleural conditions 0.000278 2.9897 0.8224 LAMB3 rs114886812 1:209632671:C:T 1 209632671 C T 1:209806016 0.974568 0.00101255 2 370 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contusion of ankle 3.06e-05 7.7305 1.8544 LAMB3 rs75876132 1:209633116:C:A 1 209633116 C A 1:209806461 0.930746 376 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other pleural conditions 0.000769 3.1618 0.94 LAMB3 rs150895872 1:209634463:C:T 1 209634463 C T 1:209807808 0.967674 782 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the ankle and foot 0.000156 0.6483 0.1714 Disorders of brain, other and unspecified 9.129e-05 688.626 176 LAMB3 rs2235542 1:209634470:T:C 1 209634470 T C 1:209807815 0.996061 0.0237351 220 8500 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epidermolysis bullosa, junctional KRA_PSY_EATING 3.32e-05 0.608 0.1465 Open wound of shoulder and upper arm 0.001723 8.377 2.673 IRF6 rs2235371 1:209790735:C:T 1 209790735 C T 1:209964080 0.99619 5309 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cleft Lip +/- Cleft Palate, Autosomal Dominant;Popliteal pterygium syndrome;Van der Woude syndrome;not specified Diseases of arteries, arterioles and capillaries 0.000127 -0.2525 0.0659 Dislocation, sprain and strain of joints and ligaments of lumbar spine and pelvis 1.369e-05 20.293 4.666 SYT14 rs1188666462 1:210094548:TGAA:T 1 210094548 TGAA T 1:210267893 0.996606 0.205107 15608 59746 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cleft lip and cleft palate 5.52e-07 0.8118 0.1621 Cleft lip and cleft palate 1.829e-07 1.396 0.268 HHAT rs149597734 1:210587966:C:T 1 210587966 C T 1:210761310 0.947998 0.008457 48 3059 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of anal and rectal regions 3.02e-05 1.2058 0.289 Scleritis and episcleritis 0.0003283 17.172 4.781 KCNH1 rs139659266 1:210683796:A:T 1 210683796 A T 1:210857138 0.80211 176 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of cervix uteri (other cancers excluded from controls) 0.000416 13.837 3.9205 RD3 rs143207434 1:211479040:T:A 1 211479040 T A 1:211652382 0.992932 0.0276765 310 9858 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leber congenital amaurosis 12;not provided;not specified Endocrine, nutritional and metabolic diseases 7.99e-05 -0.0981 0.0249 Alzheimer's disease (undefined) (more controls excluded) 0.0005506 12.702 3.676 RD3 rs200585050 1:211481157:T:C 1 211481157 T C 1:211654499 0.953793 156 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other/unspecified reactive arthropathies 0.00172 5.2696 1.6807 RD3 rs34049451 1:211481277:G:A 1 211481277 G A 1:211654619 0.995825 1609 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Premature rupture of membranes 0.000157 0.9867 0.261 Hepatomegaly and splenomegaly, not elsewhere classified 0.0004785 160.613 45.988 FAM71A rs143861665 1:212626540:A:T 1 212626540 A T 1:212799882 0.994026 1035 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic nephritic syndrome 0.000486 2.2099 0.6335 Alcohol abuse counselling and surveillance 0.0001791 383.971 102.481 FLVCR1 rs11120047 1:212858606:G:C 1 212858606 G C 1:213031948 0.999751 87120 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of patella 0.000131 0.1074 0.0281 Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 2.128e-05 0.101 0.024 FLVCR1 rs139175550 1:212872731:G:A 1 212872731 G A 1:213046073 0.991894 5384 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Any mental disorder 0.00119 0.1215 0.0375 Benign neoplasm: Rectum, anus and anal canal (other cancers excluded from controls) 8.054e-05 4.621 1.172 FLVCR1 rs41297444 1:212872746:G:A 1 212872746 G A 1:213046088 0.989112 436 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 0.000167 17.2125 4.5716 FLVCR1 rs3207090 1:212895253:C:T 1 212895253 C T 1:213068595 0.99946 89930 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other behavioural and emotional disorders with onset usually occuring in childhood and adolescence 0.000382 0.206 0.058 Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 6.109e-05 0.099 0.025 PTPN14 rs61749334 1:214383853:G:A 1 214383853 G A 1:214557196 0.986245 185 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteonecrosis 0.000462 7.9899 2.2816 PTPN14 rs141247660 1:214384602:C:T 1 214384602 C T 1:214557945 0.991834 0.0272872 302 9723 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seborrhoeic keratosis 9.37e-05 0.4024 0.103 Alzheimer's disease (undefined) 3.428e-05 14.183 3.423 PTPN14 rs112523432 1:214384776:T:G 1 214384776 T G 1:214558119 0.970717 2304 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Divergent concomitant strabismus 0.000213 1.1606 0.3134 Melanocytic naevi of eyelid, including canthus 0.002642 39.241 13.052 CENPF rs144237457 1:214641955:A:G 1 214641955 A G 1:214815298 0.963968 1014 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified All anxiety disorders 0.000231 -0.5709 0.155 Leiomyoma of uterus 0.001287 1.732 0.538 CENPF rs114717799 1:214641961:C:T 1 214641961 C T 1:214815304 0.987995 17900 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other diseases of arteries and capillaries 0.000163 0.3806 0.1009 Other melanin hyperpigmentation 0.001115 3.017 0.925 CENPF rs62000407 1:214642149:A:G 1 214642149 A G 1:214815492 0.981129 580 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Problems related to housing and economic circumstances 0.00183 7.6142 2.4431 CENPF rs140952090 1:214642693:A:G 1 214642693 A G 1:214816036 0.91495 0.000400122 0 147 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypertensive Heart Disease 6.33e-05 2.1498 0.5374 CENPF rs79923436 1:214646475:G:A 1 214646475 G A 1:214819818 0.989171 4019 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of plantar nerve 0.000316 0.9065 0.2517 Complications associated with artificial fertilization 0.001952 47.944 15.478 CENPF rs138428805 1:214646507:G:A 1 214646507 G A 1:214819850 0.98351 0.000683201 0 251 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autoimmune thyroiditis 5.39e-05 13.8561 3.4315 USH2A rs58257972 1:215625828:T:C 1 215625828 T C 1:215799170 0.928453 1309 missense_variant recessive Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Usher syndrome;not specified Family history of certain disabilities and chronic diseases leading to disablement 0.000204 3.2459 0.8741 0.00149 2.553 0.804 USH2A rs111033269 1:215628900:C:T 1 215628900 C T 1:215802242 0.982768 2142 missense_variant recessive Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Retinitis pigmentosa;not provided;not specified Peritonsillar abscess 0.000823 -0.5755 0.1721 Other and unspecified disorders of vitreous body 0.0004238 5.313 1.507 USH2A rs56038610 1:215634665:G:A 1 215634665 G A 1:215808007 0.998136 17405 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis pigmentosa 39;Usher syndrome, type 2A;not provided;not specified Dementia due to Parkinsons disease (more controls excluded) 0.000154 0.8552 0.226 Other and unspecified epidermal thickening 0.0003018 3.102 0.859 USH2A rs41308435 1:215634680:T:C 1 215634680 T C 1:215808022 0.928365 1309 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Family history of certain disabilities and chronic diseases leading to disablement 0.000204 3.2461 0.8741 0.00149 2.553 0.804 USH2A rs56136489 1:215647560:G:A 1 215647560 G A 1:215820902 0.992845 0.00180463 0 663 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Colitis, primary sclerosing, strict definition 1.51e-05 12.1323 2.8041 USH2A rs200949691 1:215647671:C:G 1 215647671 C G 1:215821013 0.90535 417 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fracture of skull and facial bones 0.002 1.4012 0.4534 USH2A rs77211159 1:215648567:C:T 1 215648567 C T 1:215821909 0.928462 1315 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Family history of certain disabilities and chronic diseases leading to disablement 0.000228 3.2035 0.8693 0.000117 2.985 0.775 USH2A rs41315587 1:215648597:C:T 1 215648597 C T 1:215821939 0.932049 0.00380524 14 1384 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Pre-eclampsia 9.65e-05 1.2197 0.3128 Atrial fibrillation and flutter with reimbursement 0.001189 3.633 1.121 USH2A rs45549044 1:215671031:C:T 1 215671031 C T 1:215844373 0.997816 885 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis pigmentosa 39;Retinitis pigmentosa 39;Usher syndrome, type 2A;not provided;not specified Pruritus 0.000797 1.7307 0.5161 0 4.385 0 USH2A rs111033381 1:215674614:C:A 1 215674614 C A 1:215847956 0.981214 16442 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Acquired haemolytic anaemia 0.000565 0.8392 0.2434 Emotionally unstable personality disorder 0.0004895 1.027 0.295 USH2A rs148556640 1:215675303:T:C 1 215675303 T C 1:215848645 0.997077 6588 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Ovarian dysfunction 0.000327 0.7558 0.2103 0.0002121 0.443 0.119 USH2A rs41303285 1:215741409:G:T 1 215741409 G T 1:215914751 0.995096 11620 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Unspecified lump in breast 0.000559 0.3169 0.0918 Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 0.0004712 3.861 1.104 USH2A rs35309576 1:215741484:T:C 1 215741484 T C 1:215914826 0.999341 67105 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Voice disturbances 0.000133 0.117 0.0306 Benign neoplasm: Rectosigmoid junction (other cancers excluded from controls) 0.001017 0.374 0.114 USH2A rs11120616 1:215743221:G:A 1 215743221 G A 1:215916563 0.997936 67084 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Voice disturbances 0.000127 0.1175 0.0307 Benign neoplasm: Rectosigmoid junction (other cancers excluded from controls) 0.000944 0.378 0.114 USH2A rs10864198 1:215786825:T:G 1 215786825 T G 1:215960167 0.99783 90732 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin of trunk (other cancers excluded from controls) 0.000524 0.2283 0.0658 Abnormal spermatozoa 0.0004832 0.16 0.046 USH2A rs4129843 1:215813880:T:C 1 215813880 T C 1:215987222 0.987851 3639 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Sacroiliitis, not elsewhere classified 0.00124 1.1978 0.3708 Other respiratory disorders and diseases 8.611e-05 5.773 1.47 USH2A rs11120645 1:215817137:C:T 1 215817137 C T 1:215990479 0.998418 10246 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Nail disorders 0.000192 0.5555 0.149 Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder (other cancers excluded from controls) 0.0001267 5.511 1.438 USH2A rs56032526 1:215838019:T:C 1 215838019 T C 1:216011361 0.994237 3741 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Sacroiliitis, not elsewhere classified 0.000399 1.3319 0.3761 Other respiratory disorders and diseases 7.003e-05 6.085 1.53 USH2A rs41277194 1:215838066:T:C 1 215838066 T C 1:216011408 0.998371 10248 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Nail disorders 0.000326 0.5327 0.1482 Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder (other cancers excluded from controls) 0.0001268 5.511 1.438 USH2A rs56056328 1:215838100:C:T 1 215838100 C T 1:216011442 0.984084 3441 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Pneumonia, organism unsepcified 0.000562 0.2072 0.0601 Other keratitis 6.547e-05 11.413 2.859 USH2A rs41277200 1:215877783:G:A 1 215877783 G A 1:216051125 0.993732 3666 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Sacroiliitis, not elsewhere classified 0.000844 1.2535 0.3755 Soft tissue disorders 4.96e-05 1.01 0.249 USH2A rs12118814 1:215877815:C:T 1 215877815 C T 1:216051157 0.994697 0.0588588 1258 20366 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Nonischemic cardiomyopathy 7.07e-05 0.484 0.1218 0.0001725 0.668 0.178 USH2A rs111033533 1:215879002:C:T 1 215879002 C T 1:216052344 0.988071 482 missense_variant recessive Likely benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Helminthiases 0.00107 6.108 1.8666 USH2A rs56385601 1:215888964:A:G 1 215888964 A G 1:216062306 0.997475 2678 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Retinal breaks without detachment 0.000252 0.7885 0.2154 0.001543 58.915 18.606 USH2A rs111033394 1:215934786:T:C 1 215934786 T C 1:216108128 0.999885 2897 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis pigmentosa 39;Usher syndrome, type 2A;not provided;not specified Chromosomal abnormalities, not elsewhere classified 0.000425 2.779 0.7886 Pain in throat and chest 0.0002624 1.501 0.411 USH2A rs41277210 1:215970707:C:T 1 215970707 C T 1:216144049 0.992447 15423 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Colorectal cancer 0.000718 -0.2437 0.072 Hyperplasia of prostate 1.771e-05 0.585 0.136 USH2A rs41277212 1:215993112:T:G 1 215993112 T G 1:216166454 0.992464 14173 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Type 1 diabetes with other specified/multiple/unspecified complications 0.000712 0.2507 0.0741 Type 1 diabetes with ophthalmic complications 0.0003049 1.082 0.3 USH2A rs10864219 1:215999038:A:G 1 215999038 A G 1:216172380 0.998196 0.561777 116002 90388 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonhereditary hypogammaglobulinemia 7.48e-05 -0.5251 0.1326 Erythema multiforme 0.0001929 0.256 0.069 USH2A rs6657250 1:216046439:A:G 1 216046439 A G 1:216219781 0.985327 82213 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rash and other nonspecific skin eruption 0.000267 0.1566 0.0429 Other benign neoplasms of skin (other cancers excluded from controls) 0.0004474 0.052 0.015 USH2A rs149202379 1:216046499:G:T 1 216046499 G T 1:216219841 0.980807 0.00872375 18 3187 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Other disorders of the musculoskeletal system and connective tissue 7.03e-05 0.8337 0.2097 2.88e-05 25.014 5.98 USH2A rs114402911 1:216046516:C:A 1 216046516 C A 1:216219858 0.992745 729 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis pigmentosa;not provided;not specified Haemangioma, any site 0.000501 2.2083 0.6346 Other maternal disorders predominantly related to pregnancy 1.017e-05 4.404 0.998 USH2A rs41303287 1:216070175:T:C 1 216070175 T C 1:216243517 0.98522 3832 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinitis pigmentosa 39;Usher syndrome, type 2A;not provided;not specified Other mental disorders due to brain damage and dysfunction and to physical disease 0.000926 0.7154 0.216 0.0003144 17.701 4.913 USH2A rs56222536 1:216084871:A:G 1 216084871 A G 1:216258213 0.992907 42674 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Eosinophilia 0.000207 -0.6705 0.1807 Vertigo of central origin 0.001155 1.144 0.352 USH2A rs190170807 1:216097195:C:T 1 216097195 C T 1:216270537 0.953573 0.00130924 0 481 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Coronary revascularization (ANGIO or CABG) 6.87e-05 1.0478 0.2632 USH2A rs1805049 1:216175422:C:T 1 216175422 C T 1:216348764 0.998157 76312 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bacterial pneumoniae 0.000208 0.0764 0.0206 Bacterial pneumoniae 0.0001854 0.05 0.013 USH2A rs149304901 1:216217421:G:T 1 216217421 G T 1:216390763 0.981072 0.00163859 0 602 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fracture of lower leg, including ankle 9.06e-05 0.8313 0.2124 USH2A rs111033282 1:216246872:G:T 1 216246872 G T 1:216420214 0.998032 5296 missense_variant recessive Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hearing impairment;Retinitis pigmentosa;not provided;not specified Loose body in joint 0.000189 1.4715 0.3941 Toxic liver disease 4.121e-05 47.583 11.604 USH2A rs696723 1:216250933:C:G 1 216250933 C G 1:216424275 0.996526 2242 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;Retinitis pigmentosa-deafness syndrome;Usher syndrome, type 2A;not provided;not specified STROKE 0.000125 0.3507 0.0914 Benign neoplasm: Oesophagus 0.001457 61.952 19.463 USH2A rs146824138 1:216289285:C:T 1 216289285 C T 1:216462627 0.928003 207 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Pustulosis palmaris et plantaris 0.00039 8.1554 2.2993 USH2A rs1805048 1:216289320:T:A 1 216289320 T A 1:216462662 0.998384 13601 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Acute appendicitis, with complications 0.000166 0.2559 0.0679 0.000177 -0.3 0.08 USH2A rs35730265 1:216323590:C:G 1 216323590 C G 1:216496932 0.967475 0.015847 116 5706 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Eosinophilia 2.41e-05 2.532 0.5996 Symptoms and signs involving the skin and subcutaneous tissue 0.0004321 1.364 0.387 USH2A rs45500891 1:216365049:C:T 1 216365049 C T 1:216538391 0.999558 7043 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Corneal scars and opacities 0.00029 1.4552 0.4015 0.0006654 0.644 0.189 USH2A rs10779261 1:216421964:C:T 1 216421964 C T 1:216595306 0.997266 65830 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Eating disorders 0.000153 0.1706 0.0451 Eating disorders 7.8e-05 0.108 0.027 USH2A rs375083165 1:216422024:G:A 1 216422024 G A 1:216595366 0.986712 1155 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinitis pigmentosa 39;Usher syndrome, type 2A;not specified Faecal incontinence 0.000488 1.6608 0.4763 Malignant neoplasm, without specification of site 0.001342 64.732 20.186 RRP15 rs776185321 1:218331057:GC:G 1 218331057 GC G 1:218504399 0.888671 220 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Noninfective enteritis and colitis 0.000184 1.5242 0.4075 TGFB2 rs10482721 1:218346973:G:A 1 218346973 G A 1:218520315 0.923727 502 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Hirschsprung disease 1;Holt-Oram syndrome;Loeys-Dietz syndrome;not provided;not specified Rheumatic fever incl heart disease 0.00129 3.3831 1.0511 Presbycusis 0.0008026 96.96 28.927 TGFB2 rs10482810 1:218434190:G:C 1 218434190 G C 1:218607532 0.995655 1571 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Holt-Oram syndrome;Loeys-Dietz syndrome;Loeys-Dietz syndrome 4;Thoracic aortic aneurysm and aortic dissection;not provided;not specified Other symptoms and signs involving cognitive functions and awareness 0.000308 0.5748 0.1593 Von Willebrand disease 0.0004465 171.074 48.726 IARS2 rs149324758 1:220094239:G:T 1 220094239 G T 1:220267581 0.989422 2877 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Other female pelvic inflammatory diseases 0.000811 -0.5941 0.1774 Mental and behavioural disorders due to cannabinoids 0.0009896 76.338 23.179 IARS2 rs78770848 1:220125322:A:G 1 220125322 A G 1:220298664 0.992752 860 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Unspefcified behauvioural syndromes associated with physiological disturbances and physical factors +Phsyiological and behauvioural factors associated with disorders of diseases classified elsewhere 0.000252 5.1437 1.4051 Specific developmental disorder of motor function 0.0001104 499.179 129.099 IARS2 rs143722284 1:220137990:G:A 1 220137990 G A 1:220311332 0.991359 1003 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leigh syndrome;not provided;not specified Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.00344 0.3871 0.1323 Adult respiratory distress syndrome 0.0009421 96.8 29.269 RAB3GAP2 rs2289189 1:220157863:C:G 1 220157863 C G 1:220331205 0.994874 25580 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Martsolf syndrome;Warburg micro syndrome;not specified Renal tubulo-intestitial diseases 0.000228 -0.0905 0.0246 Complications of internal orthopaedic prosthetic devices, implants and grafts 0.0005378 0.557 0.161 RAB3GAP2 rs12045447 1:220171111:T:C 1 220171111 T C 1:220344453 0.999201 3827 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Martsolf syndrome;Martsolf syndrome;Warburg micro syndrome;Warburg micro syndrome 2;not specified Other and unspecified injuries of ankle and foot 0.000122 1.632 0.4247 Diseases of the myoneural junction and muscle 0.0007074 5.283 1.56 Mar-01 rs17850677 1:220796753:T:A 1 220796753 T A 1:220970095 0.969061 3422 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative colitis (strict definition, require KELA, min 2 HDR) 0.000525 0.6355 0.1832 Keratoconus 3.784e-05 47.66 11.567 HHIPL2 rs116359984 1:222538766:G:T 1 222538766 G T 1:222712108 0.953956 3261 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.00143 0.2282 0.0715 Excessive, freguent and irrelgular menstruation 0.0006742 1.49 0.438 MIA3 rs142088763 1:222628319:A:T 1 222628319 A T 1:222801661 0.967099 2330 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other endocrine disorders 0.000473 1.4252 0.4077 Pulmonary eosinophilia, not elsewhere classified 0.000762 104.79 31.13 DISP1 rs2609383 1:222943130:G:A 1 222943130 G A 1:223116472 0.976103 45871 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal tubulo-intestitial diseases 0.000636 0.0627 0.0184 Congenital musculoskeletal deformities of head, face, spine and chest 0.0001978 1.392 0.374 DISP1 rs2789975 1:222943132:G:T 1 222943132 G T 1:223116474 0.975399 45878 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal tubulo-intestitial diseases 0.000955 0.0606 0.0184 Congenital musculoskeletal deformities of head, face, spine and chest 0.0001985 1.391 0.374 DISP1 rs144673025 1:223004684:T:C 1 223004684 T C 1:223178026 0.96227 1693 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified disorders of external ear 0.0015 1.9184 0.6042 Benign neoplasm: Pancreas 0.001082 78.152 23.913 DISP1 rs9441940 1:223005136:G:A 1 223005136 G A 1:223178478 0.991066 0.167539 10424 51128 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of other B group vitamins 1.39e-06 0.6338 0.1313 Deficiency of other B group vitamins 4.653e-06 1.096 0.239 TLR5 rs5744177 1:223110495:T:C 1 223110495 T C 1:223283837 0.9909 2003 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diseases of the ear and mastoid process 0.00091 0.1989 0.06 Hypothyroidism, drug reimbursement 1.904e-06 3.609 0.758 TLR5 rs5744175 1:223111102:T:A 1 223111102 T A 1:223284444 0.99123 2002 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diseases of the ear and mastoid process 0.000879 0.1994 0.0599 Other disorders of adrenal gland 3.462e-06 115.007 24.779 TLR5 rs2072493 1:223111257:T:C 1 223111257 T C 1:223284599 0.993788 43557 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Congenital malformations of uterus and cervix 0.00287 -0.4557 0.1529 Type 1 diabetes without complications 0.0001273 0.253 0.066 TLR5 rs5744171 1:223111573:G:T 1 223111573 G T 1:223284915 0.991716 2003 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Diseases of the ear and mastoid process 0.000912 0.1987 0.0599 Migraine 5.62e-08 7.124 1.312 TLR5 rs5744168 1:223111858:G:A 1 223111858 G A 1:223285200 0.99626 0.0552958 1218 19097 pLoF unknown protective, risk factor protective no assertion criteria provided no_Criteria Legionellosis;Melioidosis, resistance to;Systemic lupus erythematosus, resistance to, 1 Atopic dermatitis, strict definition with reimbursement 3.73e-05 0.2076 0.0504 Hypertensive diseases (excluding secondary) 0.0007203 -0.237 0.07 TLR5 rs764535 1:223112787:G:A 1 223112787 G A 1:223286129 0.911839 243 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia 0.00146 4.0469 1.2716 TP53BP2 rs61824007 1:223798261:C:G 1 223798261 C G 1:223985963 0.985648 3285 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonia due to Streptococcus pneumoniae 0.000124 1.4928 0.3889 Unstable angina pectoris 0.0003295 5.684 1.583 TP53BP2 rs61749337 1:223804257:G:A 1 223804257 G A 1:223991959 0.990149 0.00930079 26 3391 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonia due to Streptococcus pneumoniae 7.76e-05 1.5153 0.3835 Abnormal findings on diagnostic imaging of lung 0.0001053 4.987 1.286 TP53BP2 rs76208122 1:223814261:G:A 1 223814261 G A 1:224001963 0.961906 2614 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early onset COPD 0.000308 0.6311 0.1749 Autism spe (more controls excluded) 0.0006825 118.127 34.779 DEGS1 rs138717762 1:224189687:G:A 1 224189687 G A 1:224377389 0.996172 5950 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in other circumstances 0.00135 -0.1477 0.0461 Pre-eclampsia or eclampsia 0.0006574 1.96 0.575 DEGS1 rs61732863 1:224190294:A:G 1 224190294 A G 1:224377996 0.953002 3648 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Angina pectoris 0.00134 -0.2451 0.0764 Diseases of the myoneural junction and muscle 0.002288 6.705 2.198 DNAH14 rs3105559 1:225079264:C:G 1 225079264 C G 1:225266966 0.999216 11616 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 0.000259 -1.9753 0.5407 Social disorders starting during childhood or adolecense (more controls excluded) 0.0001744 -1.033 0.275 DNAH14 rs115366080 1:225080404:C:A 1 225080404 C A 1:225268106 0.998577 19370 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Lower back pain or/and sciatica 0.000515 -0.0917 0.0264 Myeloid leukaemia (other cancers excluded from controls) 0.0001776 3.511 0.937 DNAH14 rs3128651 1:225080641:A:G 1 225080641 A G 1:225268343 0.999348 11611 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 0.000257 -1.9771 0.541 Social disorders starting during childhood or adolecense (more controls excluded) 0.0001731 -1.034 0.275 DNAH14 rs3128652 1:225080644:G:A 1 225080644 G A 1:225268346 0.999303 11618 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 0.000259 -1.9753 0.5407 Social disorders starting during childhood or adolecense (more controls excluded) 0.0001745 -1.033 0.275 DNAH14 rs3128655 1:225082707:A:T 1 225082707 A T 1:225270409 0.999729 39393 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of gallbladder, biliary tract and pancreas 0.000158 -0.0686 0.0182 Disorders of gallbladder, biliary tract and pancreas 0.0001402 -0.038 0.01 DNAH14 rs3128658 1:225085546:G:T 1 225085546 G T 1:225273248 0.999337 11621 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 0.00026 -1.9747 0.5406 Social disorders starting during childhood or adolecense (more controls excluded) 0.0001747 -1.032 0.275 DNAH14 rs10495237 1:225318592:A:G 1 225318592 A G 1:225506294 0.997089 42992 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other complications of surgical and medical care, not elsewhere classified 0.0016 0.2363 0.0749 Fracture of lumbar spine and pelvis 0.000337 0.297 0.083 DNAH14 rs3856145 1:225340481:C:A 1 225340481 C A 1:225528183 0.998763 85790 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pure hyperglyceridaemia 0.000611 0.3767 0.1099 Substance abuse (more controls excluded) 0.0004407 0.063 0.018 DNAH14 rs6667999 1:225345982:A:G 1 225345982 A G 1:225533684 0.999006 85809 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pure hyperglyceridaemia 0.000601 0.3773 0.11 Diaphragmatic hernia 0.0004905 0.079 0.023 DNAH14 rs7527925 1:225346517:T:C 1 225346517 T C 1:225534219 0.99901 85803 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pure hyperglyceridaemia 0.000601 0.3773 0.11 Diaphragmatic hernia 0.0005011 0.079 0.023 DNAH14 rs7535953 1:225346646:G:A 1 225346646 G A 1:225534348 0.999006 85811 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pure hyperglyceridaemia 0.000602 0.3772 0.11 Diaphragmatic hernia 0.0004912 0.079 0.023 DNAH14 rs12737248 1:225367900:T:G 1 225367900 T G 1:225555602 0.99099 90137 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of veins 0.00247 -0.0684 0.0226 Other epidermal thickening 0.0006579 0.191 0.056 DNAH14 rs3856154 1:225377313:T:C 1 225377313 T C 1:225565015 0.997867 78344 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteoporosis with pathological fracture (FG) 0.000665 -0.2196 0.0645 Drug-induced osteoporosis with pathological fracture 0.0006944 -0.324 0.096 DNAH14 rs950210 1:225381539:T:G 1 225381539 T G 1:225569241 0.998033 78334 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Convalescence 0.000706 0.2122 0.0626 Drug-induced osteoporosis with pathological fracture 0.0006861 -0.324 0.096 LBR rs138769892 1:225410316:T:C 1 225410316 T C 1:225598018 0.998148 3062 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other systemic involvement of connective tissue (FG) 0.0014 0.4683 0.1466 Injury of nerves and spinal cord at neck level 0.002929 34.389 11.559 LBR rs2230419 1:225419442:C:T 1 225419442 C T 1:225607144 0.998524 43489 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arterial embolism and thrombosis 0.00125 -0.2778 0.0861 Coxarthrosis, primary 0.0001946 -0.055 0.015 LBR rs11551873 1:225422160:G:A 1 225422160 G A 1:225609862 0.939211 0.000190534 0 70 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Short stature, not elsewhere classified 1.35e-05 31.7019 7.2838 EPHX1 rs1051740 1:225831932:T:C 1 225831932 T C 1:226019633 0.99799 76849 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Episodal and paroxysmal disorders 0.000102 0.0371 0.0096 Hypoparathyroidism 0.0006248 0.319 0.093 EPHX1 rs112721617 1:225838676:C:A 1 225838676 C A 1:226026377 0.964204 648 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified intracranial injuries 0.00131 4.2777 1.3309 EPHX1 rs2234922 1:225838705:A:G 1 225838705 A G 1:226026406 0.999371 0.166257 10552 50529 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Heartburn 1.84e-05 0.2852 0.0666 Hyperkinetic disorders (excl. ADHD) 0.0004242 0.894 0.254 LEFTY2 rs543472211 1:225937476:C:T 1 225937476 C T 1:226125176 0.961952 0.00041101 0 151 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Manic episode 2.34e-05 16.1877 3.8271 LEFTY2 rs2295418 1:225937685:G:A 1 225937685 G A 1:226125385 0.989816 8526 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Heterotaxia;Left-right axis malformations;not specified Benign neoplasm: Skin of lower limb, including hip (other cancers excluded from controls) 0.000224 1.1417 0.3094 Other noninflammatory disorders of cervix uteri 0.0005438 3.591 1.038 LEFTY2 rs429477 1:225939828:T:C 1 225939828 T C 1:226127528 0.981577 2771 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Heterotaxia;Left-right axis malformations Coronary artery bypass grafting 0.000328 0.52 0.1448 Frostbite 0.0013 66.065 20.542 LEFTY2 rs141680926 1:225940927:G:A 1 225940927 G A 1:226128627 0.968913 179 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the neck 0.000673 2.5348 0.7454 PARP1 rs2230484 1:226383066:G:A 1 226383066 G A 1:226570767 0.997786 995 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pollen allergy 0.000441 1.0723 0.3051 ITPKB rs16846447 1:226736868:G:T 1 226736868 G T 1:226924569 0.9875 0.00140451 0 516 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dementia in other diseases classified elsewhere 4.06e-05 4.7718 1.1627 PSEN2 rs58973334 1:226883748:G:A 1 226883748 G A 1:227071449 0.885406 78 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of pancreas 0.000117 19.8707 5.1589 PSEN2 rs140501902 1:226883774:C:T 1 226883774 C T 1:227071475 0.995717 5836 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Myalgia 0.00327 0.3601 0.1224 Carcinoma in situ of breast, intraductal 0.001228 9.231 2.856 PSEN2 rs143549266 1:226894097:C:T 1 226894097 C T 1:227081798 0.989417 317 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs (other cancers excluded from controls) 0.00211 3.038 0.9883 ADCK3 rs142184584 1:226961447:C:T 1 226961447 C T 1:227149148 0.90247 97 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemangioma, any site (other cancers excluded from controls) 0.00233 7.3047 2.3992 ADCK3 rs199874519 1:226986458:G:A 1 226986458 G A 1:227174159 0.995297 419 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Inborn genetic diseases;not provided In situ neoplasms 0.000251 1.7163 0.4688 Other bacterial diseases 0.0002107 5.669 1.53 IBA57 rs55873785 1:228165950:G:C 1 228165950 G C 1:228353651 0.993394 82505 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal ulcer 0.000166 -0.1264 0.0336 Malignant neoplasm of bladder (other cancers excluded from controls) 0.0005166 -0.187 0.054 IBA57 rs2298014 1:228174981:G:A 1 228174981 G A 1:228362682 0.999064 76351 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other prurigo 0.00015 0.5848 0.1542 Cerebral palsy and other paralytic syndromes 0.0001481 -0.184 0.048 OBSCN rs191837710 1:228211818:T:A 1 228211818 T A 1:228399519 0.911429 727 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Myasthenia gravis 0.000182 6.2023 1.6573 Mild mental retardation 0.0005508 134.815 39.023 OBSCN rs199979779 1:228212510:G:C 1 228212510 G C 1:228400211 0.959711 0.000843795 4 306 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diseases of the respiratory system 2.75e-05 0.4967 0.1185 OBSCN rs185552992 1:228224494:C:T 1 228224494 C T 1:228412195 0.956573 404 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of orbit 0.000468 4.368 1.2485 OBSCN rs201854668 1:228250048:G:A 1 228250048 G A 1:228437749 0.864995 1195 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of upper limb, including shoulder 0.000206 4.2977 1.1581 Benign neoplasm: Skin of upper limb, including shoulder 0.0005151 143.023 41.184 OBSCN rs199646052 1:228268681:A:C 1 228268681 A C 1:228456382 0.948859 862 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of patella 0.000185 1.1264 0.3013 Heterophoria 0.0004424 136.001 38.709 OBSCN rs62621832 1:228276554:T:C 1 228276554 T C 1:228464255 0.985702 2003 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erythema multiforme 0.000264 2.7171 0.7447 Congenital iodine-deficiency syndrome/hypothyroidism 0.001289 65.67 20.404 OBSCN rs200720682 1:228279394:T:C 1 228279394 T C 1:228467095 0.997317 3350 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seborrhoeic dermatitis 0.000588 0.8575 0.2495 Other aneurysm 0.0001719 23.536 6.264 OBSCN rs200407258 1:228287805:A:G 1 228287805 A G 1:228475506 0.907795 61 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gastrointestinal diseases 0.000621 -0.9565 0.2795 OBSCN rs200870329 1:228287903:G:A 1 228287903 G A 1:228475604 0.974388 63 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified hearing loss 0.000689 10.957 3.2284 OBSCN rs56306215 1:228308282:G:A 1 228308282 G A 1:228495983 0.975529 0.00103977 0 382 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of middle ear and mastoid 4.84e-05 1.0146 0.2497 OBSCN rs183406337 1:228315978:A:G 1 228315978 A G 1:228503679 0.996403 653 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 1e-04 12.2697 3.1542 OBSCN rs139319906 1:228316954:G:A 1 228316954 G A 1:228504655 0.91477 100 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (multiple infarctations) 0.000319 36.1631 10.0478 OBSCN rs181568906 1:228319055:C:T 1 228319055 C T 1:228506756 0.996457 656 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 0.000101 12.2526 3.151 OBSCN rs188302055 1:228319211:T:C 1 228319211 T C 1:228506912 0.95007 852 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seropositive rheumatoid arthritis, wide 0.000409 0.9661 0.2734 OBSCN rs182318410 1:228321909:C:T 1 228321909 C T 1:228509610 0.99654 653 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 1e-04 12.2697 3.1542 OBSCN rs56359770 1:228322032:C:T 1 228322032 C T 1:228509733 0.99654 653 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 1e-04 12.2697 3.1542 OBSCN rs56015866 1:228333294:G:A 1 228333294 G A 1:228520995 0.950747 852 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seropositive rheumatoid arthritis, wide 0.000409 0.9648 0.273 OBSCN rs144372515 1:228338877:T:A 1 228338877 T A 1:228526578 0.986451 5966 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizophrenia 0.000916 -0.4544 0.1371 0.0007781 1.933 0.575 OBSCN rs56065114 1:228340048:C:T 1 228340048 C T 1:228527749 0.98557 304 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute bronchiolitis 0.000226 4.9142 1.3326 OBSCN rs142615706 1:228350867:C:G 1 228350867 C G 1:228538568 0.873061 0.000843795 0 310 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis, primary 8.83e-05 1.2662 0.323 OBSCN rs200436705 1:228367918:A:T 1 228367918 A T 1:228555619 0.993806 651 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 1e-04 12.266 3.1532 OBSCN rs186684024 1:228372232:A:T 1 228372232 A T 1:228559933 0.993602 653 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 0.000101 12.2497 3.1499 OBSCN rs200919408 1:228378686:G:A 1 228378686 G A 1:228566387 0.994382 655 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 0.000102 12.2008 3.1398 URB2 rs12142450 1:229651283:G:A 1 229651283 G A 1:229787030 0.933413 1070 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of bone and articular cartilage (other cancers excluded from controls) 0.000275 1.8404 0.5059 Systemic atrophies primarly affecting the central nervous system 0.001144 63.154 19.417 PGBD5 rs41315609 1:230357055:C:T 1 230357055 C T 1:230492801 0.973295 2974 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alopecia areata 0.00053 2.1711 0.6266 Generalized epilepsy, mode (most common among epilepsy diagnosis) 0.0004993 14.558 4.182 COG2 rs6681346 1:230675010:T:A 1 230675010 T A 1:230810756 0.975194 2298 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq Chronic diseases of tonsils and adenoids 0.000596 0.261 0.076 Cellulitis 0.001097 9.746 2.985 COG2 rs143526339 1:230687086:C:G 1 230687086 C G 1:230822832 0.973995 545 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility, cervigal, vaginal, other or unspecified origin 0.000188 1.1639 0.3117 Hypertensive diseases (excluding secondary) 0 1.903 0 AGT rs699 1:230710048:A:G 1 230710048 A G 1:230845794 0.999874 0.430768 68682 89577 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertensive diseases 2.85e-08 0.0553 0.01 Convergence insufficiency and excess 0.0005995 0.368 0.107 AGT rs4762 1:230710231:G:A 1 230710231 G A 1:230845977 0.998161 50504 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Specific personality disorders 0.000418 0.1126 0.0319 Mental and behavioural disorders due to use of other stimulants, including caffeine 0.0006684 0.542 0.159 AGT rs61731497 1:230710700:A:G 1 230710700 A G 1:230846446 0.994776 729 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Renal dysplasia All anxiety disorders 0.000569 -0.6605 0.1917 Post-traumatic stress disorder 0.0006966 114.5 33.767 ARV1 rs143532693 1:230979169:A:T 1 230979169 A T 1:231114915 0.997202 1276 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Deficiency of other B group vitamins 0.000187 3.7187 0.9952 Dystonia 0.001098 78.046 23.91 ARV1 rs140251959 1:230979178:G:T 1 230979178 G T 1:231114924 0.995724 317 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture at wrist and hand level 0.000647 1.3469 0.3949 GNPAT rs139378588 1:231260531:G:T 1 231260531 G T 1:231396277 0.93345 168 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Special screening examination for infectious and parasitic diseases 0.000603 1.8128 0.5284 GNPAT rs11558492 1:231272345:A:G 1 231272345 A G 1:231408091 0.98261 29334 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rhizomelic chondrodysplasia punctata;Rhizomelic chondrodysplasia punctata type 2;not provided;not specified Pregnancy examination and test 0.00088 0.1474 0.0443 Other and unspecified vascular occlusions 0.0001223 0.833 0.217 EXOC8 rs144793875 1:231336791:C:G 1 231336791 C G 1:231472537 0.988051 1059 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intestinal infectious diseases 0.000536 0.3708 0.1071 Endocrine, nutritional and metabolic diseases 0 1.689 0 SPRTN rs62617126 1:231353206:A:T 1 231353206 A T 1:231488952 0.99874 3843 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hepatic failure, not elsewhere classified 0.00041 1.5203 0.4302 0.0009459 1.274 0.385 EGLN1 rs147839743 1:231366433:G:A 1 231366433 G A 1:231502179 0.995977 0.00459188 10 1677 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erythrocytosis, familial, 3 Traumatic amputation of wrist and hand 7.25e-05 2.1564 0.5435 0 7.235 0 EGLN1 rs61750991 1:231421418:C:G 1 231421418 C G 1:231557164 0.986707 16371 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Erythrocytosis, familial, 3;Familial erythrocytosis Injuries to the thorax 0.000272 0.1711 0.047 Dry age-related macular degeneration (includes geographic atrophy) 4.295e-05 1.077 0.263 EGLN1 rs748272071 1:231421419:T:C 1 231421419 T C 1:231557165 0.915847 930 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erythrocytosis, familial, 3 Diseases of the respiratory system 0.00146 -0.215 0.0676 Other puerperal infections 6.67e-05 53.888 13.513 EGLN1 rs12097901 1:231421509:C:G 1 231421509 C G 1:231557255 0.982667 0.0762436 2262 25749 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial erythrocytosis;Hemoglobin, high altitude adaptation Persons encountering health services in other circumstances 6.27e-05 0.0851 0.0213 Cerebral palsy 2.189e-05 2.665 0.628 TSNAX rs144584692 1:231529288:A:G 1 231529288 A G 1:231665034 0.995882 4893 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diabetes, wide definition 0.00012 -0.1869 0.0486 Abnormal findings in nipple discharge synovial fluid wound secretions 5.295e-05 42.156 10.429 DISC1 rs143796295 1:231694237:G:T 1 231694237 G T 1:231829983 0.991861 1730 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hepatic failure, not elsewhere classified 0.000512 2.4175 0.6958 Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.0006765 4.713 1.387 DISC1 rs3738401 1:231694549:G:A 1 231694549 G A 1:231830295 0.999369 0.293545 31980 75865 missense_variant unknown not provided not_provided no assertion provided none Persons encountering health services for specific procedures, not carried out 9.34e-05 -0.2889 0.0739 Fracture of shoulder and upper arm 0.0007598 -0.091 0.027 DISC1 rs6675281 1:231818355:C:T 1 231818355 C T 1:231954101 0.997422 46423 missense_variant unknown not provided not_provided no assertion provided none Other and unspecified myopathies 0.000394 0.2489 0.0702 Inflammatory disorders of breast 0.0009514 0.494 0.15 DISC1 rs115112816 1:232008993:G:C 1 232008993 G C 1:232144739 0.991651 3368 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Occlusion and stenosis of arteries, not leading to stroke 0.00183 2.3438 0.7521 Kyphosis 0.001969 47.24 15.264 SIPA1L2 rs184013125 1:232425774:G:A 1 232425774 G A 1:232561520 0.9673 3177 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Exophthalmic conditions 0.000819 2.8622 0.8553 Ovarian cyst 0.0005289 2.882 0.832 PCNX2 rs188041996 1:233139847:G:A 1 233139847 G A 1:233275593 0.94424 267 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Lactose intolerance, other/unspecified 0.000648 7.0535 2.068 COA6 rs10910420 1:234373513:G:C 1 234373513 G C 1:234509259 0.99534 90461 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations of skin 0.000303 0.2403 0.0665 Injury of eye and orbit 0.0003199 0.11 0.031 COA6 rs117011051 1:234373657:C:G 1 234373657 C G 1:234509403 0.975537 9360 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Iron deficiency anaemia 0.00268 -0.2049 0.0683 Injury of urinary and pelvic organs 0.0001846 8.797 2.352 TARBP1 rs35562024 1:234459324:T:C 1 234459324 T C 1:234595070 0.991531 0.00330169 14 1199 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corns and callosities 5.05e-05 2.02 0.4984 Oesophageal obstruction 0.002022 45.978 14.894 IRF2BP2 rs7545855 1:234609263:A:G 1 234609263 A G 1:234745009 0.995521 74628 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of arteries, arterioles and capillaries (FINNGEN) 0.000581 0.0822 0.0239 Malignant neoplasm of rectosigmoid junction 9.349e-05 0.32 0.082 TBCE rs62620041 1:235414461:C:T 1 235414461 C T 1:235577776 0.993222 0.010561 58 3822 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypoparathyroidism retardation dysmorphism syndrome;not specified Obstructive hydrocephalus 3.16e-05 3.2461 0.78 Fibrosis and chirrhosis of liver 2.528e-05 16.004 3.799 TBCE rs143886167 1:235414500:A:G 1 235414500 A G 1:235577815 0.994093 0.00409104 6 1497 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypoparathyroidism retardation dysmorphism syndrome;not provided Examination and encounter for administrative purposes 2.77e-05 6.2149 1.4827 Acne vulgaris 0.0002701 253.147 69.5 B3GALNT2 rs201345883 1:235480130:C:T 1 235480130 C T 1:235643446 0.983412 834 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11;not provided Coronary artery bypass grafting 0.000209 1.0013 0.2701 Bacterial meningitis 0.002518 38.147 12.627 LYST rs550123150 1:235702775:C:T 1 235702775 C T 1:235866075 0.858653 108 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diverticular disease of intestine 3e-04 1.7368 0.4804 LYST rs140934482 1:235730874:T:C 1 235730874 T C 1:235894174 0.904493 0.000672314 0 247 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorder of external ear, unspecified 9.75e-05 11.7854 3.0245 LYST rs34702903 1:235731066:A:C 1 235731066 A C 1:235894366 0.989929 734 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Peripheral retinal degeneration 0.000569 4.1816 1.2135 LYST rs150306354 1:235746438:G:A 1 235746438 G A 1:235909738 0.98663 2637 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chédiak-Higashi syndrome;not specified Diseases of the skin and subcutaneous tissue 0.000713 -0.1607 0.0475 Other diseases of liver 0.002859 6.34 2.126 LYST rs201821563 1:235753119:G:T 1 235753119 G T 1:235916419 0.991561 328 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neuralgia and neuritis, unspecified 0.00073 4.9937 1.4783 LYST rs138443479 1:235759143:T:G 1 235759143 T G 1:235922443 0.976265 896 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chédiak-Higashi syndrome;not specified Migraine, single triptan purchase ok & required. ICD-code if available is included 0.000434 -0.5936 0.1687 Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs (other cancers excluded from controls) 0.0008395 98.475 29.488 LYST rs146591126 1:235766255:G:A 1 235766255 G A 1:235929555 0.994052 1607 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chédiak-Higashi syndrome;not specified Episcleritis 0.000765 1.8804 0.5588 Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.0009766 4.163 1.263 LYST rs115330112 1:235775029:A:C 1 235775029 A C 1:235938329 0.988136 756 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chédiak-Higashi syndrome;not provided;not specified Other conjunctival vascular disorders and cysts 0.00136 4.4494 1.3888 Fracture of neck 0.0004823 158.766 45.486 LYST rs145298434 1:235808989:T:A 1 235808989 T A 1:235972289 0.951276 627 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Helminthiases 0.00142 5.5746 1.7473 LYST rs77091385 1:235809132:C:G 1 235809132 C G 1:235972432 0.990738 2388 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chédiak-Higashi syndrome;not specified Tongue abnormality 0.00183 1.1899 0.3819 Bursitis of shoulder 0.001043 80.285 24.487 NID1 rs140746746 1:235985487:G:T 1 235985487 G T 1:236148787 0.964845 299 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cauda equina syndrome 0.000312 15.2274 4.2236 NID1 rs138322087 1:235991019:G:A 1 235991019 G A 1:236154319 0.986099 3429 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other general symptoms and signs 0.000219 1.4812 0.4007 Umbilical hernia 0.0001648 5.232 1.389 NID1 rs148665567 1:236013477:T:G 1 236013477 T G 1:236176777 0.971167 241 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pustulosis palmaris et plantaris 0.000606 7.5556 2.2035 Hypertensive diseases 0 3.095 0 NID1 rs140374909 1:236017198:C:T 1 236017198 C T 1:236180498 0.991388 0.0190126 148 6837 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to negative life events in childhood 5.45e-05 1.7152 0.4251 Orchitis and epididymitis 0.001577 3.988 1.262 NID1 rs141204959 1:236017204:G:T 1 236017204 G T 1:236180504 0.970386 2240 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Exophthalmic conditions 0.000245 4.186 1.1415 Other lesions of median nerve 0.000415 25.476 7.216 NID1 rs138933538 1:236024072:T:C 1 236024072 T C 1:236187372 0.986622 2121 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bacterial pneumonia, not elsewhere classified 0.000352 -0.4535 0.1269 Salphingitis and oophoritis 0.0004841 11.325 3.246 NID1 rs16833183 1:236042140:C:T 1 236042140 C T 1:236205440 0.939254 310 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other acquired deformities of musculoskeletal system and connective tissue 0.000228 5.4201 1.4707 EDARADD rs966365 1:236394471:G:A 1 236394471 G A 1:236557771 0.999521 55654 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other deformities of toe(s) 0.000234 -0.3454 0.0939 Other deformities of toe(s) 0.0006813 -0.185 0.054 EDARADD rs114632254 1:236482309:C:T 1 236482309 C T 1:236645609 0.985948 0.0291164 334 10363 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive;not specified Spondylopathies 9.05e-05 0.159 0.0406 Schizophrenia or delusion 0.0003369 1 0.279 HEATR1 rs41308194 1:236585828:A:C 1 236585828 A C 1:236749128 0.940135 3335 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of scalp and neck (other cancers excluded from controls) 0.000241 1.9397 0.5284 Other meningitis 0.002779 33.893 11.331 HEATR1 rs149968331 1:236595551:T:C 1 236595551 T C 1:236758851 0.97677 0.00727569 32 2641 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of ankle and foot 1.33e-05 1.3298 0.3054 Other assisted single delivery 0.001872 46.398 14.92 MTR rs111840642 1:236795503:C:G 1 236795503 C G 1:236958803 0.918387 3371 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other functional intestinal disroders 0.000128 0.404 0.1055 Asthma, unspecified (mode) 0.002126 1.91 0.622 MTR rs41305572 1:236795553:C:T 1 236795553 C T 1:236958853 0.945007 0.0159178 120 5728 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Guttate psoriasis 2.7e-05 2.5054 0.5969 Acute bronchiolitis 0.0005513 5.215 1.51 MTR rs3738547 1:236795637:C:T 1 236795637 C T 1:236958937 0.989827 0.0168841 148 6055 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Visual disturbances 6.13e-05 0.3081 0.0769 Other noninflammatory disorders of cervix uteri 0.0004348 5.896 1.676 MTR rs12749581 1:236803548:G:A 1 236803548 G A 1:236966848 0.963214 0.00645639 28 2344 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter METHYLCOBALAMIN DEFICIENCY, cblG TYPE Other secondary gonarthrosis 5.29e-05 1.9338 0.4784 Other and unspecidied mood [affective] disorders 0.0001732 20.667 5.504 MTR rs142648132 1:236816521:G:A 1 236816521 G A 1:236979821 0.994812 1395 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Open wound of ankle and foot 0.000111 1.5975 0.4134 MTR rs2229274 1:236826841:G:A 1 236826841 G A 1:236990141 0.96907 5248 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of Intracellular Cobalamin Metabolism;not provided;not specified Atopic dermatitis 0.00101 0.2847 0.0866 Vulvovaginal ulceration/inflammation in other diseases 0.000269 6.974 1.914 MTR rs142250261 1:236862284:C:T 1 236862284 C T 1:237025584 0.974221 452 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified and unspecified retinal disorders 0.00135 5.6873 1.7742 MTR rs1805087 1:236885200:A:G 1 236885200 A G 1:237048500 0.999923 58081 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Failed induction of labour 0.000284 -0.3297 0.0908 Lesion of plantar nerve 0.000894 0.306 0.092 MTR rs116836001 1:236891204:C:T 1 236891204 C T 1:237054504 0.993444 1273 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of Intracellular Cobalamin Metabolism;not provided;not specified Antepartum haemorrhage, not elsewhere classified 0.00101 1.4683 0.4466 Parkinson's disease, strict definition (more controls excluded) 0.0005461 8.91 2.577 RYR2 rs202040519 1:237493065:C:T 1 237493065 C T 1:237656365 0.902914 98 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Granuloma annulare 0.000738 24.6619 7.3073 RYR2 rs72549415 1:237566759:C:T 1 237566759 C T 1:237730059 0.9581 2202 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;not provided;not specified Simple and mucoplurulent chronic bronchitis 0.000536 1.7573 0.5076 Optic atrophy 0.00172 67.167 21.427 RYR2 rs56229512 1:237591776:A:G 1 237591776 A G 1:237755076 0.999386 8721 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;not provided;not specified Other (seronegative) rheumatoid arthritis, wide 0.000201 0.3722 0.1001 0.0004083 0.625 0.177 RYR2 rs41315858 1:237614782:G:A 1 237614782 G A 1:237778082 0.985619 5415 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;not specified Focal epilepsy 0.00225 0.8952 0.293 Stenosis and insufficiency of lacrimal passages 6.127e-05 6.488 1.619 RYR2 rs3766871 1:237614784:G:A 1 237614784 G A 1:237778084 0.998066 0.0269443 314 9585 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Cardiomyopathy;Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;not specified Mental and behavioural disorders due to use of other stimulants, including caffeine 8.79e-05 0.9574 0.2441 Chronic Coagulation defects 1.376e-05 9.826 2.26 RYR2 rs199893812 1:237617326:G:A 1 237617326 G A 1:237780626 0.976678 0.000713143 2 260 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Non-allergic asthma (mode) (more controls excluded) 9.7e-05 2.5409 0.6519 RYR2 rs369152386 1:237639185:G:A 1 237639185 G A 1:237802485 0.847606 394 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype Malignant neoplasm of breast 0.000331 1.1558 0.322 Hypothermia 3e-04 209.068 57.828 RYR2 rs34967813 1:237678090:A:G 1 237678090 A G 1:237841390 0.997787 0.254535 24192 69321 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal epilepsy 1.83e-05 0.3403 0.0794 Pain (limb, back, neck, head abdominally) 1.043e-05 -0.044 0.01 RYR2 rs375482798 1:237700290:G:A 1 237700290 G A 1:237863590 0.96038 0.000381069 2 138 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of amniotic fluid and membranes 6.45e-05 5.0383 1.261 RYR2 rs751551400 1:237707188:A:G 1 237707188 A G 1:237870488 0.980305 309 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Glucoma-related operations 0.00149 5.5112 1.735 RYR2 rs201081663 1:237708879:A:G 1 237708879 A G 1:237872179 0.992899 913 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Catecholaminergic polymorphic ventricular tachycardia;Primary familial hypertrophic cardiomyopathy;not specified Benign neoplasm: Skin of eyelid, including canthus 0.000972 1.2665 0.384 0.0003186 6.816 1.894 FMN2 rs146681532 1:240093368:A:C 1 240093368 A C 1:240256668 0.971752 1351 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Other articular cartilage disorders 0.00142 2.4635 0.7723 Benign neoplasm: Anus and anal canal 0.0007448 94.424 27.998 FMN2 rs141043862 1:240188234:C:T 1 240188234 C T 1:240351534 0.976393 289 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Crohn's disease of large intestine 0.000333 4.7086 1.3122 FMN2 rs140315493 1:240207384:C:A 1 240207384 C A 1:240370684 0.987227 345 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified anaemias 0.00022 1.5448 0.4181 FMN2 rs146874723 1:240207469:T:G 1 240207469 T G 1:240370769 0.986704 8378 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Other/unspecified cytomegaloviral diseases 0.000196 1.6778 0.4505 Otherdisorders of bone 0.002061 1.562 0.507 FMN2 rs150801382 1:240333921:C:T 1 240333921 C T 1:240497221 0.976457 312 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified AION (anterior ischemic optic neuropathy) 0.000132 12.2274 3.1983 AION (anterior ischemic optic neuropathy) 0.0007132 109.307 32.297 EXO1 rs4150000 1:241885313:G:C 1 241885313 G C 1:242048615 0.880705 302 pLoF unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ectopic pregnancy 0.0011 2.4042 0.7364 EXO1 rs4150001 1:241885378:G:A 1 241885378 G A 1:242048680 0.978209 0.0299139 356 10634 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other disorders of pigmentation 4.11e-05 0.903 0.2202 Symptoms and signs concerning food and fluid intake 0.001473 2.055 0.646 CEP170 rs148125417 1:243156309:T:C 1 243156309 T C 1:243319611 0.982381 12057 start_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in circumstances related to reproduction 0.000692 -0.0979 0.0289 0.0005053 0.356 0.102 SDCCAG8 rs2275155 1:243330605:A:T 1 243330605 A T 1:243493907 0.998323 76081 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Paralytic ileus and intestinal obstruction 0.000258 0.1054 0.0289 Paralytic ileus and intestinal obstruction 0.0001864 0.124 0.033 COX20 rs61749963 1:244843172:A:G 1 244843172 A G 1:245006474 0.863376 2095 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Puerperal sepsis 0.000892 1.4979 0.4508 Pain, not elsewhere classified 1.136e-05 8.88 2.023 HNRNPU rs755839601 1:244864246:T:C 1 244864246 T C 1:245027548 0.807168 92 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Routine general health check-up of defined subpopulation 0.00149 16.8612 5.3093 KIF26B rs61831269 1:245602713:A:G 1 245602713 A G 1:245766015 0.881757 347 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple gestation 0.000284 3.5004 0.9644 KIF26B rs148590058 1:245685889:C:T 1 245685889 C T 1:245849191 0.963153 3396 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gestational [pregnancy-induced] oedema and proteinuria without hypertension 0.000112 1.8012 0.4662 Brachial plexus disorders 0.001075 10.099 3.088 KIF26B rs201987019 1:245686864:C:T 1 245686864 C T 1:245850166 0.973582 360 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed specific developmental disorders 0.00117 8.3103 2.5608 KIF26B rs113972282 1:245687211:C:G 1 245687211 C G 1:245850513 0.954157 651 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed hyperlipidaemia 9e-04 3.4788 1.0478 ZNF124 rs33998996 1:247156803:G:T 1 247156803 G T 1:247320105 0.995933 5017 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Focal epilepsy 0.000781 0.7849 0.2336 Other general symptoms and signs 0.0002758 19.652 5.403 NLRP3 rs121908147 1:247424041:G:A 1 247424041 G A 1:247587343 0.981123 0.0233078 208 8355 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Chronic infantile neurological, cutaneous and articular syndrome;Cryopyrin associated periodic syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome;Familial cold urticaria;Familial cold urticaria;not provided;not specified Primary gonarthrosis, bilateral 7.6e-05 -0.2604 0.0658 Torsion of ovary, ovarian pedicle and fallobian tube 0.003746 5.691 1.963 NLRP3 rs180177493 1:247424123:C:T 1 247424123 C T 1:247587425 0.995535 0.00290973 4 1065 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cryopyrin associated periodic syndrome;Familial cold urticaria;not provided Pneumonia (excl. viral and due to other infectious organisms not elsewhere classified) 2.16e-05 0.4228 0.0995 Other diseases of the digestive system 0.0002175 15.849 4.286 NLRP3 rs201593863 1:247424528:T:A 1 247424528 T A 1:247587830 0.925401 344 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Decubitus ulcer and pressure area 0.000875 5.0506 1.5176 NLRP3 rs35829419 1:247425556:C:A 1 247425556 C A 1:247588858 0.981173 17775 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic infantile neurological, cutaneous and articular syndrome;Cryopyrin associated periodic syndrome;Familial amyloid nephropathy with urticaria AND deafness;Familial cold autoinflammatory syndrome;not provided;not specified Idiopathic gout 0.000337 0.4899 0.1367 Beningn neoplasm: Meninges, unspecified (other cancers excluded from controls) 1.552e-05 6.054 1.401 OR2M2 rs4916104 1:248180688:T:C 1 248180688 T C 1:248343990 0.995024 85204 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erectile dysfunction 0.000525 -0.1734 0.05 Erectile dysfunction 0.0002937 -0.126 0.035 ACP1 rs79716074 2:277003:A:G 2 277003 A G 2:277003 0.997501 84133 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Volvulus 0.000245 0.3598 0.0981 5.317e-05 -0.034 0.008 SNTG2 rs142024310 2:1083594:A:C 2 1083594 A C 2:1079280 0.99842 11272 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Delirium, not induced by alcohol and other psychoactive substances 0.000198 0.4968 0.1335 Rotator cuff syndrome 0.0001923 0.667 0.179 SNTG2 rs190210611 2:1209122:C:T 2 1209122 C T 2:1204808 0.989973 1454 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic ketoacidosis 0.00137 -0.6605 0.2064 TPO rs4927611 2:1456232:G:T 2 1456232 G T 2:1460004 0.999516 88794 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism,other/unspecified 0.000175 0.0457 0.0122 Hypothyroidism,other/unspecified 0.0005518 0.039 0.011 TPO rs2280132 2:1477383:G:T 2 1477383 G T 2:1481155 0.993656 90763 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic gastritis 0.000178 0.0845 0.0225 Other abnormalities of plasma proteins 9.132e-05 0.472 0.121 TPO rs763941231 2:1477447:A:ACGGC 2 1477447 A ACGGC 2:1481219 0.969742 1132 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beningn neoplasm: Meninges, unspecified (other cancers excluded from controls) 0.000267 4.4195 1.2123 TPO rs2175977 2:1477459:G:C 2 1477459 G C 2:1481231 0.994459 0.564281 117340 89970 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism,other/unspecified 6.02e-07 -0.0604 0.0121 Hypothyroidism,other/unspecified 0.0004189 -0.032 0.009 TPO rs732609 2:1496155:A:C 2 1496155 A C 2:1499927 0.997641 0.408358 61182 88844 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined immunodeficiencies 7.17e-05 -0.493 0.1242 Gonarthrosis,primary 0.0006429 -0.042 0.012 TPO rs201659055 2:1516888:G:A 2 1516888 G A 2:1520660 0.843153 632 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Alcohol-induced chronic pancreatitis 0.00118 2.328 0.7179 TPO rs1126799 2:1516904:T:C 2 1516904 T C 2:1520676 0.993319 88213 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyarthropathies 0.000233 -0.0557 0.0151 Asthma 0.0002269 -0.035 0.009 TPO rs138289170 2:1540692:C:T 2 1540692 C T 2:1544464 0.993045 252 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of rectosigmoid junction 0.000658 11.2279 3.2959 TPO rs1042589 2:1542555:C:G 2 1542555 C G 2:1546327 0.999175 87911 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitamin B12 deficiency anaemia 0.000602 0.1367 0.0399 Vitamin B12 deficiency anaemia 0.0004486 0.132 0.038 PXDN rs147066927 2:1643470:C:A 2 1643470 C A 2:1647242 0.877516 155 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary ataxia 0.000948 22.5117 6.8103 PXDN rs189824177 2:1648959:C:T 2 1648959 C T 2:1652731 0.983489 3613 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anterior segment dysgenesis 7 Bacterial, viral and other infectious agents 0.00109 -0.7496 0.2295 Open wound of forearm 0.0004038 15.994 4.521 SOX11 rs751221446 2:5693752:C:CCAGCAGCAGCGG 2 5693752 C CCAGCAGCAGCGG 2:5833884 0.951761 5578 inframe_indel dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Unspecified maternal hypertension 0.000282 2.2361 0.6158 In situ neoplasms (other cancers excluded from controls) 0.001403 2.951 0.924 ASAP2 rs145511943 2:9393566:C:T 2 9393566 C T 2:9533695 0.919474 620 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Synovial hypertrophy, not elsewhere classified 0.000413 9.5105 2.6927 2.625e-05 2.736 0.651 ADAM17 rs61754177 2:9492963:C:T 2 9492963 C T 2:9633092 0.982972 1974 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory skin and bowel disease, neonatal 1 Cardiac murmurs and other cardiac sounds 0.000308 1.1704 0.3244 Other specified/unspecified necrotizing vasculopathies 0.0003975 188.668 53.27 ADAM17 rs61754178 2:9543235:T:C 2 9543235 T C 2:9683364 0.923264 1844 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory skin and bowel disease, neonatal 1 Personal history of malignant neoplasm 0.0025 2.3541 0.7787 Hypertrophy of (infrapatellar) fat pad 0.0004324 168.164 47.781 KLF11 rs35927125 2:10046292:A:G 2 10046292 A G 2:10186419 0.995195 0.080038 2408 26997 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maturity onset diabetes mellitus in young;not specified Other symptoms and signs involving the digestive system and abdomen 3.74e-05 0.2519 0.0611 Other symptoms and signs involving the digestive system and abdomen 3.515e-06 0.738 0.159 KLF11 rs148123124 2:10048119:C:T 2 10048119 C T 2:10188246 0.995603 2325 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maturity onset diabetes mellitus in young;Monogenic diabetes;not specified Attention to artificial openings 0.000116 2.7978 0.7259 Third [oculomotor] nerve palsy 0.001594 56.577 17.922 ROCK2 rs2230774 2:11218994:G:T 2 11218994 G T 2:11359120 0.99939 90415 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acidosis 0.000296 -0.4594 0.1269 Artificial opening status 0.001004 0.205 0.062 ROCK2 rs201939803 2:11249716:A:C 2 11249716 A C 2:11389842 0.9901 1072 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of alcohol 0.000202 3.1802 0.8557 Lesion of radial nerve 0.0007195 112.054 33.132 GREB1 rs202215699 2:11618581:G:A 2 11618581 G A 2:11758707 0.843337 382 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertensive diseases (excluding secondary) 0.00034 -0.633 0.1767 LPIN1 rs4669769 2:11677686:G:C 2 11677686 G C 2:11817812 0.965499 86071 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter malignant neoplasm of female genital organs (other cancers excluded from controls) 0.00129 -0.0894 0.0278 Other and unspecidied mood [affective] disorders 0.0008944 0.117 0.035 LPIN1 rs4614906 2:11713787:G:A 2 11713787 G A 2:11853913 0.991887 71662 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other bullous disorders 0.00127 0.3057 0.0949 Maternal care for other known or suspected fetal problems 0.0001253 -0.147 0.038 LPIN1 rs33997857 2:11787112:G:A 2 11787112 G A 2:11927238 0.996035 11567 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute Recurrent Myoglobinuria;not specified Other and unspecified disease of Bartholin gland 0.000504 0.7013 0.2016 Injury of muscle and tendon at hip and thigh level 0.001567 2.033 0.643 LPIN1 rs4669781 2:11802956:C:T 2 11802956 C T 2:11943082 0.968221 12387 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute Recurrent Myoglobinuria;not specified Multiple gestation 0.000484 0.4525 0.1297 Disorders of puberty 0.0002179 7.904 2.138 NBAS rs146449593 2:15292651:C:T 2 15292651 C T 2:15432775 0.995252 704 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormalities of forces of labour 0.000375 1.8225 0.5123 Obstructive hydrocephalus 0.0003465 198.166 55.388 NBAS rs143724414 2:15330717:T:C 2 15330717 T C 2:15470841 0.966459 361 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other postsurgical states 0.000984 4.609 1.3988 NBAS rs35489395 2:15356306:T:C 2 15356306 T C 2:15496430 0.990631 0.00164404 8 596 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of lower leg 7.45e-05 1.6599 0.419 Postzoster neuralgia 0.0002316 288.812 78.444 NBAS rs147322367 2:15394267:G:A 2 15394267 G A 2:15534391 0.900201 351 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Care involving dialysis 0.000447 3.7203 1.0597 Colon adenocarcinoma 0.001723 53.638 17.114 NBAS rs75566418 2:15402172:A:G 2 15402172 A G 2:15542296 0.965419 443 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Skin of upper limb, including shoulder 0.00056 7.5113 2.1771 Postprocedural disorders of digestive system, not elsewhere classified 0.00027 240.91 66.138 NBAS rs116458109 2:15461773:G:A 2 15461773 G A 2:15601897 0.99788 767 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presbyopia 0.00326 2.7923 0.9492 Epiphora 0.0009801 73.382 22.263 NBAS rs76459791 2:15478280:C:G 2 15478280 C G 2:15618404 0.941778 2167 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Peptic ulcer 0.0012 3.5719 1.1026 Ganglion 0.0005553 7.73 2.239 NBAS rs759315662 2:15534602:G:GA 2 15534602 G GA 2:15674726 0.987599 613 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Senile cataract 0.000573 -0.5465 0.1587 NBAS rs145341282 2:15534633:G:C 2 15534633 G C 2:15674757 0.986742 325 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of head 0.000299 2.3965 0.6627 NBAS rs77081203 2:15558622:G:C 2 15558622 G C 2:15698746 0.985341 402 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erythema nodosum 0.00203 5.0217 1.6276 NT5C1B rs147855918 2:18586372:A:G 2 18586372 A G 2:18767638 0.969978 2208 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gastrointestinal diseases 0.000362 -0.1617 0.0454 Other and specified injuries of hip and thigh 0.00112 75.73 23.24 WDR35 rs148436608 2:19914120:C:G 2 19914120 C G 2:20113881 0.999359 0.0158388 102 5717 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cranioectodermal dysplasia;Short Rib Polydactyly Syndrome Statin medication 8.97e-06 -0.1723 0.0388 Other problems related to primary support group, including family circumstances 0.001031 4.719 1.438 WDR35 rs56395266 2:19930498:G:A 2 19930498 G A 2:20130259 0.983037 0.00693 24 2522 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Frostbite 1.52e-05 4.981 1.1513 Other disorders of bladder 0.000804 11.298 3.371 WDR35 rs1191778 2:19931318:T:C 2 19931318 T C 2:20131079 0.998268 0.391129 56168 87528 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified nonorganic psychotic disorders 7.74e-06 0.1453 0.0325 Recurrent and persistent haematuria 0.0003587 -0.337 0.094 WDR35 rs2293669 2:19933460:C:T 2 19933460 C T 2:20133221 0.994586 19613 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cranioectodermal dysplasia;Short Rib Polydactyly Syndrome;not specified Scoliosis 0.000519 0.3657 0.1054 0.0001425 -0.176 0.046 WDR35 rs199952377 2:19941796:A:C 2 19941796 A C 2:20141557 0.909289 0.000364737 0 134 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic urticaria 9.16e-05 21.6559 5.536 WDR35 rs143343508 2:19966735:T:A 2 19966735 T A 2:20166496 0.964957 340 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Short rib-polydactyly syndrome, Majewski type;not provided Arthropathies 0.000492 -0.4626 0.1327 Discitis, unspecified 0.0001489 448.681 118.293 WDR35 rs142955097 2:19973675:A:G 2 19973675 A G 2:20173436 0.99781 284 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other noninflammatory disorders of vulva and perineum 0.00194 3.0783 0.9933 WDR35 rs140308808 2:19978832:G:A 2 19978832 G A 2:20178593 0.9987 709 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cranioectodermal dysplasia;Short Rib Polydactyly Syndrome;not provided;not specified Gastrointestinal diseases 0.00102 -0.2594 0.079 Fissure and fistula of anal and rectal regions 0 9.411 0 WDR35 rs1060742 2:19989254:T:C 2 19989254 T C 2:20189015 0.996419 0.0773297 2190 26220 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cranioectodermal dysplasia;Multiple Epiphyseal Dysplasia, Dominant;Short Rib Polydactyly Syndrome;not specified Parkinson's disease, strict definition 2.24e-05 0.3018 0.0712 Other specified/unsepecified deforming dorsopathies 6.41e-05 2.228 0.558 MATN3 rs146599945 2:19997257:G:A 2 19997257 G A 2:20197018 0.870005 75 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alergic contact dermatitis 0.000427 5.6173 1.5945 MATN3 rs77245812 2:20003169:G:A 2 20003169 G A 2:20202930 0.987647 2136 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant;Osteoarthritis of distal interphalangeal joint;not specified Statin medication 0.00115 0.2077 0.0639 Frostbite 0.0004302 171.934 48.833 MATN3 rs52826764 2:20005780:C:T 2 20005780 C T 2:20205541 0.996238 6934 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant;not specified Corneal scars and opacities 0.00118 1.2925 0.3984 Benign neoplasm: Peripheral nerves and autonomic nervous system 0.0003579 17.615 4.935 SDC1 rs141315088 2:20204237:G:A 2 20204237 G A 2:20403998 0.963824 874 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed specific developmental disorders 0.00121 4.0954 1.2653 LDAH rs114010802 2:20774826:C:T 2 20774826 C T 2:20974586 0.995874 8401 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Trigeminal neuralgia 0.000151 0.7664 0.2023 Pyogenic arthritis 0.0007053 3.4 1.004 APOB rs756545438 2:21001939:ACTG:A 2 21001939 ACTG A 2:21224811 0.848589 159 inframe_indel both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Crohn disease 0.00227 3.0037 0.9842 APOB rs1801695 2:21001981:C:T 2 21001981 C T 2:21224853 0.987965 0.0221183 210 7916 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not provided;not specified Seropositive rheumatoid arthritis, wide 8.44e-05 0.3411 0.0868 Malignant neoplasm of oesophagus 0.001365 9.27 2.895 APOB rs1042034 2:21002409:C:T 2 21002409 C T 2:21225281 0.999921 0.733192 197602 71764 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 1.09e-24 0.1128 0.011 Statin medication 6.581e-23 0.068 0.007 APOB rs72654423 2:21002482:T:C 2 21002482 T C 2:21225354 0.953462 1170 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not provided;not specified Statin medication 0.000384 0.3079 0.0867 Schizophrenia or delusion (more controls excluded) 0.0001772 -7.446 1.986 APOB rs1801702 2:21002613:C:G 2 21002613 C G 2:21225485 0.998388 12521 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypercholesterolemia;Familial hypobetalipoproteinemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not specified Dissocial personality disorder 0.000614 0.8402 0.2453 Carcinoid syndrome 0.000264 7.754 2.125 APOB rs61743502 2:21002628:A:G 2 21002628 A G 2:21225500 0.961209 1070 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not provided;not specified Statin medication 0.000225 0.34 0.0922 Acute suppurative otitis media 0.0005938 11.158 3.249 APOB rs1042031 2:21002881:C:T 2 21002881 C T 2:21225753 0.999086 0.197791 14564 58102 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Otosclerosis 7.01e-05 0.2224 0.0559 Otosclerosis 0.0003878 0.292 0.082 APOB rs1801703 2:21003040:C:T 2 21003040 C T 2:21225912 0.993347 2235 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not provided;not specified Gastric ulcer 0.00376 -0.5825 0.201 Paralytic ileus and intestinal obstruction 0.0003658 9.242 2.594 APOB rs1801698 2:21004631:T:C 2 21004631 T C 2:21227503 0.996527 0.00680752 24 2477 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Familial hypobetalipoproteinemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not specified Statin medication 5.15e-06 -0.2706 0.0594 Tibial collateral bursitis [Pellegrini-Stieda] 0.0008856 95.326 28.673 APOB rs61744153 2:21005391:G:A 2 21005391 G A 2:21228263 0.991347 215 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Emotional disorders and disorders of social functioning with onset specific to childhood 0.0017 3.7131 1.1836 APOB rs1801701 2:21005955:C:T 2 21005955 C T 2:21228827 0.999045 0.0777951 2260 26321 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypercholesterolemia;Familial hypobetalipoproteinemia;not specified Statin medication 6.05e-06 0.0822 0.0182 Meralgia paraesthetica 7.543e-05 1.872 0.473 APOB rs1042023 2:21006574:G:C 2 21006574 G C 2:21229446 0.988545 0.00989962 38 3599 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not provided;not specified Statin medication 1.91e-06 0.2314 0.0486 Acne vulgaris 0.0004869 13.334 3.823 APOB rs186299244 2:21006985:A:G 2 21006985 A G 2:21229857 0.99906 983 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Tuberculosis 0.000306 1.771 0.4905 APOB rs72653095 2:21008406:G:A 2 21008406 G A 2:21231278 0.992918 912 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not specified Dysphagia 0.000704 1.0385 0.3065 Other arrhytmias 1.121e-06 6.222 1.278 APOB rs2163204 2:21008515:T:G 2 21008515 T G 2:21231387 0.960588 126 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute alcohol intoxication 0.00337 3.0643 1.0453 APOB rs676210 2:21008652:G:A 2 21008652 G A 2:21231524 0.999962 0.266408 26266 71609 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 2.76e-25 -0.1142 0.011 Statin medication 3.965e-09 -0.079 0.013 APOB rs1801696 2:21009172:C:T 2 21009172 C T 2:21232044 0.998368 2996 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not provided;not specified Follow-up examination after treatment for conditions other than malignant neoplasms 0.000118 0.3333 0.0866 Hyperhidrosis 0.002344 40.68 13.369 APOB rs148170480 2:21009253:C:T 2 21009253 C T 2:21232125 0.985954 0.00424619 8 1552 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Familial hypobetalipoproteinemia;Hypercholesterolemia, autosomal dominant, type B;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;Hypobetalipoproteinemia, familial, 1;not specified Alzheimer's disease (Late onset) (more controls excluded) 2.21e-05 1.2293 0.2897 Pyogenic granuloma 0.0005631 138.245 40.085 APOB rs541497967 2:21010226:CTCA:C 2 21010226 CTCA C 2:21233098 0.997185 6827 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not specified Statin medication 0.000196 -0.1327 0.0356 Diseases of the musculoskeletal system and connective tissue 9.643e-06 -0.594 0.134 APOB rs533617 2:21011100:T:C 2 21011100 T C 2:21233972 0.998319 0.0668612 1708 22856 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not specified Statin medication 3.91e-37 -0.2483 0.0195 Statin medication 0.0001071 -0.201 0.052 APOB rs1801699 2:21011127:T:C 2 21011127 T C 2:21233999 0.998094 0.0271974 320 9672 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not provided;not specified Statin medication 8.12e-06 0.1327 0.0298 Postmenopausal osteoporosis with pathological fracture 0.0003079 4.171 1.156 APOB rs151009667 2:21011802:C:T 2 21011802 C T 2:21234674 0.987899 362 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Secondary right heart disease 0.000116 7.7161 2.0023 APOB rs146247063 2:21012336:G:A 2 21012336 G A 2:21235208 0.979698 219 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of urinary system 0.000132 0.9615 0.2515 APOB rs72653077 2:21015451:G:A 2 21015451 G A 2:21238323 0.993671 242 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Atrial fibrillation and flutter 0.000333 -1.2587 0.3508 APOB rs12713843 2:21015495:C:T 2 21015495 C T 2:21238367 0.994163 982 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified visual disturbances 0.000314 2.3664 0.6568 APOB rs12713844 2:21015541:C:G 2 21015541 C G 2:21238413 0.995507 2274 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not specified Acquired absence of organs, not elsewhere classified 0.000588 4.1825 1.2168 Malignant neoplasm of liver and intrahepatic bile ducts 0.001684 52.711 16.782 APOB rs12691202 2:21026844:C:T 2 21026844 C T 2:21249716 0.993135 13886 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Familial hypercholesterolemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;Hypobetalipoproteinemia, familial, 1;not provided;not specified Other diseases of intestine 0.000765 0.4277 0.1271 Chronic laryngitis and laryngotracheitis 0.00037 1.419 0.398 APOB rs679899 2:21028042:G:A 2 21028042 G A 2:21250914 0.999704 0.551156 111650 90838 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 9.05e-25 -0.1004 0.0098 Statin medication 2.977e-20 -0.069 0.007 APOB rs13306194 2:21029662:G:A 2 21029662 G A 2:21252534 0.998061 0.00543839 30 1968 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Familial hypobetalipoproteinemia;Hypercholesterolemia, autosomal dominant, type B;Hypobetalipoproteinemia, familial, 1;not specified Statin medication 4.62e-05 -0.2684 0.0659 Presbyopia 6.994e-07 48.683 9.812 APOB rs200662943 2:21037219:C:T 2 21037219 C T 2:21260091 0.86118 74 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain in limb 0.000192 2.3519 0.6306 APOB rs1367117 2:21041028:G:A 2 21041028 G A 2:21263900 0.999383 0.28033 29396 73594 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 1.18e-63 0.1813 0.0108 Statin medication 3.53e-31 0.146 0.013 POMC rs28932472 2:25161179:G:C 2 25161179 G C 2:25384048 0.840171 0.00012793 0 47 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Alcohol dependence 9.03e-05 6.4133 1.638 POMC rs80326661 2:25161244:T:C 2 25161244 T C 2:25384113 0.965784 4011 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Umbilical hernia 0.000723 0.4295 0.127 Cardiac murmurs and other cardiac sounds 0.002631 6.644 2.209 POMC rs202127120 2:25161269:C:A 2 25161269 C A 2:25384138 0.99823 0.00115137 2 421 pLoF both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at ankle and foot level 5.35e-05 9.4478 2.3386 POMC rs762710034 2:25161280:T:TGGGCCC 2 25161280 T TGGGCCC 2:25384149 0.997184 0.00114321 2 418 inframe_indel both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at ankle and foot level 5.27e-05 9.477 2.344 POMC rs10654394 2:25161587:C:CGCCGCTGCT 2 25161587 C CGCCGCTGCT 2:25384456 0.991077 20789 inframe_indel both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monogenic Non-Syndromic Obesity;Proopiomelanocortin deficiency;not specified Other specified/unspecified disorders of bone/cartilage 0.000767 0.5515 0.1639 Prurigo nodularis 0.001364 2.125 0.664 DNMT3A rs143730975 2:25300227:T:G 2 25300227 T G 2:25523096 0.996914 6252 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tatton-Brown-rahman syndrome;not provided;not specified Persons with potential health hazards related to family and personal history and certain conditions influencing health status 0.000234 0.1665 0.0453 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 5.055e-05 40.094 9.892 ASXL2 rs115221221 2:25742226:G:T 2 25742226 G T 2:25965095 0.987291 8257 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Cyst of kidney 0.000613 0.7053 0.2059 Other malignant neoplasms of skin (=non-melanoma skin cancer) 0.0004493 0.935 0.266 ASXL2 rs62130126 2:25743113:C:T 2 25743113 C T 2:25965982 0.991133 6642 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anaemia in chronic diseases classified elsewhere 0.000394 2.0129 0.568 Type of accident 0.0006646 13.13 3.858 ASXL2 rs200858310 2:25749916:T:C 2 25749916 T C 2:25972785 0.990721 0.000683201 0 251 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Venous thromboembolism 4e-05 1.5415 0.3753 ASXL2 rs192716734 2:25750067:C:T 2 25750067 C T 2:25972936 0.946433 465 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Stenosis and insufficiency of lacrimal passages 0.000935 2.4743 0.7477 Spondylopathies 8.278e-05 3.772 0.958 ASXL2 rs190136878 2:25768844:T:G 2 25768844 T G 2:25991713 0.928296 685 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of liver and intrahepatic bile ducts (other cancers excluded from controls) 0.000127 5.7569 1.5024 HADHA rs145930159 2:26191467:A:G 2 26191467 A G 2:26414336 0.974714 929 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Alzheimer's disease, wide definition (more controls excluded) 0.00211 -0.765 0.2489 Specific development disorders of speech and language 0.000189 352.234 94.35 HADHA rs149632783 2:26191569:A:G 2 26191569 A G 2:26414438 0.983645 5518 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specific joint derangements/joint disorders 0.000138 0.217 0.0569 Pediculosis, acariasis and other infestations 0.002548 6.797 2.253 HADHA rs137852769 2:26195184:C:G 2 26195184 C G 2:26418053 0.992392 1749 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Testicular dysfunction 0.00062 2.9898 0.8735 HADHB rs1052024502 2:26254257:G:GACT 2 26254257 G GACT 2:26477125 0.998896 20193 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic multinodular goitre 0.000445 -0.214 0.0609 Other/unspecified enthesopathies, not elsewhere classified 0.0001265 0.179 0.047 DRC1 rs149398412 2:26414403:G:C 2 26414403 G C 2:26637271 0.956539 0.000590656 2 215 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Rash and other nonspecific skin eruption 7.72e-05 4.3881 1.1101 DRC1 rs143181834 2:26440481:C:T 2 26440481 C T 2:26663349 0.93267 296 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other acute viral hepatitis 0.000423 14.0035 3.9723 DRC1 rs3795958 2:26444262:A:G 2 26444262 A G 2:26667130 0.988676 67393 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autonomic disorders 0.00025 -0.4452 0.1216 Benign neoplasm: Skin of eyelid, including canthus (other cancers excluded from controls) 0.0003336 -0.191 0.053 DRC1 rs149007147 2:26448693:G:C 2 26448693 G C 2:26671561 0.973594 0.00100983 0 371 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder (other cancers excluded from controls) 3.96e-05 7.7394 1.8832 DRC1 rs143980408 2:26448786:C:G 2 26448786 C G 2:26671654 0.997589 0.0122214 56 4434 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Abnormalities of heart beat 1.11e-05 0.4475 0.1018 9.909e-05 -1.816 0.467 DRC1 rs145400360 2:26450067:G:T 2 26450067 G T 2:26672935 0.991837 0.00605899 16 2210 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Mental and behavioural disorders due to opioids 7.96e-05 1.9734 0.5001 Nonspesific lymphadenitis 8.384e-05 31.722 8.065 DRC1 rs12623642 2:26453527:G:T 2 26453527 G T 2:26676395 0.991033 18365 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Autoimmune thyroiditis 0.000683 0.8003 0.2357 Congenital musculoskeletal deformities of head, face, spine and chest 0.0002054 4.824 1.3 DRC1 rs202097155 2:26454748:A:T 2 26454748 A T 2:26677616 0.993777 1942 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Other infectious diseases 0.000286 1.2419 0.3423 Other infectious diseases 0.0001735 21.384 5.695 DRC1 rs201260214 2:26455142:C:G 2 26455142 C G 2:26678010 0.992889 418 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of trunk 0.00114 5.9882 1.8413 DRC1 rs115095929 2:26455214:A:C 2 26455214 A C 2:26678082 0.985606 26265 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Cardiovascular diseases 0.00049 -0.0554 0.0159 Benign neoplasm: Rectum/anal canal icd-9 0.002082 2.492 0.81 DRC1 rs35313480 2:26456494:G:A 2 26456494 G A 2:26679362 0.991873 9610 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Special screening examination for other diseases and disorders 0.000625 0.4269 0.1248 Persons encountering health services for specific procedures, not carried out 0.001478 4.245 1.335 OTOF rs17005371 2:26464893:G:A 2 26464893 G A 2:26687761 0.955035 229 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Herpesviral keratitis and keratoconjunctivitis 0.00052 7.5108 2.1644 OTOF rs200699092 2:26466760:G:A 2 26466760 G A 2:26689628 0.980908 423 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Fracture of foot, except ankle 0.000547 1.5899 0.46 Other diseases of upper respiratory tract 4.225e-05 4.76 1.162 OTOF rs41288773 2:26472632:A:C 2 26472632 A C 2:26695500 0.986599 6374 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Chronic suppurative otitis media 0.000399 0.9515 0.2687 8.338e-05 -0.496 0.126 OTOF rs56054534 2:26473506:C:T 2 26473506 C T 2:26696374 0.893802 0.00176652 2 647 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lesion of lateral popliteal nerve 8.79e-05 4.2421 1.0817 OTOF rs80356574 2:26474554:C:G 2 26474554 C G 2:26697422 0.994588 8529 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal recessive 9;not specified Other and unspecified nail disorders 0.00274 1.2997 0.4339 Personal history of malignant neoplasm 0.001134 10.091 3.1 OTOF rs191568463 2:26477197:T:A 2 26477197 T A 2:26700065 0.825882 101 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of meninges (other cancers excluded from controls) 0.000121 12.7143 3.3084 OTOF rs80356570 2:26477231:G:A 2 26477231 G A 2:26700099 0.994213 8531 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal recessive 9;not specified Other and unspecified nail disorders 0.00274 1.3004 0.434 Personal history of malignant neoplasm 0.001125 10.132 3.111 OTOF rs148532589 2:26477448:G:A 2 26477448 G A 2:26700316 0.996555 1065 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Non-small cell lung cancer, adenocarcinoma 0.00014 2.7107 0.7117 Pyogenic granuloma 0.0007855 104.266 31.052 OTOF rs80356569 2:26477505:G:A 2 26477505 G A 2:26700373 0.994292 543 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intracerebral haemmorrhage 0.000208 2.5504 0.6876 OTOF rs76130130 2:26477826:A:C 2 26477826 A C 2:26700694 0.945695 183 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Left bundle-branch block 0.00104 4.1818 1.2747 OTOF rs4665855 2:26477832:G:A 2 26477832 G A 2:26700700 0.993703 90460 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other peripheral vertigo 0.000436 0.1567 0.0445 Toxic effect of other and unspecified substances 0.0004972 0.326 0.094 OTOF rs55676840 2:26480866:C:T 2 26480866 C T 2:26703734 0.995947 4468 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal recessive 9;not specified Psoriasis (vulgaris), strict definition 0.000392 1.6146 0.4554 Nontoxic diffuse goitre 0.0005243 14.016 4.041 OTOF rs139954767 2:26480959:G:A 2 26480959 G A 2:26703827 0.983443 633 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Family history of certain disabilities and chronic diseases leading to disablement 0.000831 3.6995 1.1069 OTOF rs370643920 2:26519005:C:A 2 26519005 C A 2:26741873 0.972524 405 LC recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Burn and corrosion of trunk 0.00103 6.2021 1.8889 OTOF rs13031859 2:26519093:G:A 2 26519093 G A 2:26741961 0.986267 84329 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic pulmonary fibrosis (attempt to specificity) 0.00093 0.1797 0.0543 Tarsal tunnel syndrome 0.0008303 0.503 0.15 OTOF rs1879761 2:26527901:G:A 2 26527901 G A 2:26750769 0.988707 5803 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal recessive 9;Nonsyndromic Hearing Loss, Recessive;not specified Chronic rhinitsi, nasopharyngitis and pharyngitis 0.00025 0.3312 0.0904 Alzheimer's disease, wide definition 0.0006526 1.77 0.519 AGBL5 rs142943047 2:27059398:G:A 2 27059398 G A 2:27282266 0.997923 7497 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intracranial injury 0.00063 0.2019 0.0591 Injuries to the thorax 0.0002976 1.445 0.399 KHK rs2304681 2:27092384:G:A 2 27092384 G A 2:27315252 0.993723 0.339298 42918 81736 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain (limb, back, neck, head abdominally) 8.37e-06 -0.033 0.0074 Other soft tissue disorders, not elsewhere classified 7.954e-06 -0.065 0.015 KHK rs141417422 2:27094589:C:T 2 27094589 C T 2:27317457 0.968854 250 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Lung transplantation 0.00152 3.3133 1.0448 KHK rs138164728 2:27099673:G:A 2 27099673 G A 2:27322541 0.998468 4200 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Fructosuria, essential Subarachnoid haemmorrhage 0.000245 0.7903 0.2155 Traumatic subarachnoid haemorrhage 0.0008945 11.215 3.376 KHK rs1131375 2:27100517:C:T 2 27100517 C T 2:27323385 0.995003 0.34978 45656 82849 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain (limb, back, neck, head abdominally) 1.75e-06 -0.0352 0.0074 Other soft tissue disorders, not elsewhere classified 4.909e-06 -0.065 0.014 SLC5A6 rs141244089 2:27201104:C:T 2 27201104 C T 2:27423972 0.995958 3587 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nail disorders 0.000298 0.9571 0.2646 Speech and linguistic disorders 3.467e-05 12.68 3.063 CAD rs144692793 2:27238500:T:C 2 27238500 T C 2:27461368 0.997595 2191 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of ocular muscles, binocular movement, accommodation and refraction 0.00357 -0.3552 0.1219 COPD related to chronic (opportunist) infections 7.584e-05 829.091 209.516 CAD rs139332887 2:27239731:G:A 2 27239731 G A 2:27462599 0.987079 969 missense_variant recessive Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Presence of other devices 0.00072 1.0646 0.3148 CAD rs144801319 2:27242028:G:A 2 27242028 G A 2:27464896 0.997258 2582 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cleft lip and cleft palate 0.00229 2.5381 0.8322 0.0009327 91.133 27.532 CAD rs61737365 2:27242740:G:C 2 27242740 G C 2:27465608 0.98428 2512 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Iliotibial band syndrome 0.000443 3.6795 1.0473 Benign neoplasm of thyroid gland (other cancers excluded from controls) 0.002433 38.272 12.625 TRIM54 rs750473735 2:27299415:AG:A 2 27299415 AG A 2:27522283 0.984932 316 pLoF unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.00257 2.0845 0.6913 MPV17 rs201202659 2:27309900:A:C 2 27309900 A C 2:27532768 0.962906 223 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary coxarthrosis, bilateral 0.000353 1.9908 0.5572 EIF2B4 rs78599355 2:27367171:G:C 2 27367171 G C 2:27590038 0.989328 0.0339831 438 12047 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leukoencephalopathy with vanishing white matter;not provided;not specified Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 4.03e-05 0.4182 0.1019 Other shoulder lesions 0.0002629 2.473 0.678 EIF2B4 rs41288829 2:27367799:C:T 2 27367799 C T 2:27590666 0.988641 0.019606 136 7067 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other psoriatic arthropathies 9.73e-05 0.6509 0.167 Dorsopathies 5.529e-05 0.662 0.164 EIF2B4 rs190259653 2:27369900:C:G 2 27369900 C G 2:27592767 0.983306 2571 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Infections of the skin and subcutaneous tissue 0.00033 0.3575 0.0996 Malignant neoplasm of testis 0.000677 116.805 34.367 ZNF513 rs141337532 2:27378517:C:T 2 27378517 C T 2:27601384 0.976049 203 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other ill-defined and unspecified causes of mortality 0.000425 13.2547 3.7613 ZNF513 rs35554630 2:27378976:G:A 2 27378976 G A 2:27601843 0.994842 1108 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Antepartum haemorrhage, not elsewhere classified 0.00145 1.5574 0.489 IFT172 rs61742074 2:27446270:A:G 2 27446270 A G 2:27669137 0.975357 1554 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis pigmentosa 71;Short-rib thoracic dysplasia 10 with or without polydactyly;not specified Open wound of ankle and foot 0.00183 1.1502 0.369 0.0009954 80.265 24.383 IFT172 rs56076827 2:27453420:A:T 2 27453420 A T 2:27676287 0.997084 0.426919 66860 89985 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to alcohol, excluding acute intoxication 7.02e-05 0.073 0.0184 Alzheimer's disease (Early onset) (more controls excluded) 0.0003695 -0.212 0.059 IFT172 rs148624326 2:27454631:C:A 2 27454631 C A 2:27677498 0.993645 5102 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis pigmentosa 71;Short-rib thoracic dysplasia 10 with or without polydactyly;not specified Mixed hyperlipidaemia 0.000296 1.2582 0.3477 Somatoform disorder 0.0005067 3.658 1.052 IFT172 rs704793 2:27458798:C:T 2 27458798 C T 2:27681665 0.805818 0.000460004 0 169 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Labour and delivery complicated by fetal stress [distress] 2.54e-05 3.2139 0.7631 IFT172 rs61747073 2:27459442:C:T 2 27459442 C T 2:27682309 0.995532 8801 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis pigmentosa 71;Short-rib thoracic dysplasia 10 with or without polydactyly;not specified Irritable bowel syndrome 0.00273 -0.2333 0.0779 Aplastic and other anaemias 0.00163 1.065 0.338 IFT172 rs61743977 2:27470935:G:C 2 27470935 G C 2:27693802 0.957978 0.00322003 2 1181 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Meniscus derangement 5.56e-05 -0.5534 0.1373 GCKR rs1260326 2:27508073:T:C 2 27508073 T C 2:27730940 0.995194 0.648905 154626 83774 missense_variant unknown association association no assertion criteria provided no_Criteria Statin medication 8.84e-16 -0.082 0.0102 Statin medication 8.883e-14 -0.052 0.007 PLB1 rs145379829 2:28525298:A:G 2 28525298 A G 2:28748165 0.986038 13199 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicalgia 0.000597 -0.2593 0.0755 Plantar fascial fibromatosis 0.0006047 1.469 0.428 PLB1 rs75175520 2:28529756:G:T 2 28529756 G T 2:28752623 0.954157 83 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of great arteries 0.00181 18.2744 5.8584 PLB1 rs77183296 2:28550020:A:G 2 28550020 A G 2:28772887 0.962529 94 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyphaema and other vascular disorders of iris and ciliary body 0.00103 21.2139 6.4624 PLB1 rs72793588 2:28601936:G:A 2 28601936 G A 2:28824803 0.937458 1005 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pure hyperglyceridaemia 0.00036 4.8592 1.3621 Cervical root disorders 0.0001175 498.86 129.532 PLB1 rs62131028 2:28602857:A:T 2 28602857 A T 2:28825724 0.916454 1834 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Respiratory disorders in diseases classified elsewhere 0.00278 3.5948 1.2017 0.001039 -1.384 0.422 PLB1 rs139396774 2:28604048:G:A 2 28604048 G A 2:28826915 0.991599 616 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seronegative rheumatoid arthritis 0.000331 2.0047 0.5584 Other diseases of upper respiratory tract 0 3.438 0 C2orf71 rs187333111 2:29064997:C:T 2 29064997 C T 2:29287863 0.914779 947 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis pigmentosa 54;not provided;not specified Other psoriatic arthropathies 0.000536 1.7453 0.5041 Blood alcohol or alcohol intoxication level 0.0004141 149.74 42.408 C2orf71 rs139768554 2:29065060:C:CGCT 2 29065060 C CGCT 2:29287926 0.997934 46170 inframe_indel unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other other unspecified disorders of the circulatory system 0.000168 0.4103 0.109 Other disorders of the genitourinary system 0.002047 0.287 0.093 C2orf71 rs200367963 2:29071203:T:C 2 29071203 T C 2:29294069 0.984121 4687 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Dementia in other diseases classified elsewhere 0.000238 1.1537 0.3139 Other congenital malformations of tongue, mouth and pharynx 0.0004173 20.616 5.842 C2orf71 rs201355503 2:29071204:G:T 2 29071204 G T 2:29294070 0.984606 4691 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not provided Non-ischemic cardiomyopathy 0.000238 0.2689 0.0732 Other congenital malformations of tongue, mouth and pharynx 0.0004173 20.616 5.842 C2orf71 rs202196567 2:29071218:G:T 2 29071218 G T 2:29294084 0.822035 41 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of urinary organs 0.000894 22.3524 6.7285 C2orf71 rs184249075 2:29071398:C:T 2 29071398 C T 2:29294264 0.956969 77 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Melanoma in situ (other cancers excluded from controls) 0.000313 13.8002 3.8287 C2orf71 rs182248363 2:29071662:G:A 2 29071662 G A 2:29294528 0.996531 700 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Human immunodeficiency virus [HIV] disease 0.000119 4.7863 1.2436 C2orf71 rs17744093 2:29071888:G:C 2 29071888 G C 2:29294754 0.991556 0.107069 4528 34808 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not specified Other other unspecified disorders of the circulatory system 2.44e-05 0.5397 0.1279 Injury of nerves at lower leg level 0.002721 1.743 0.581 C2orf71 rs149601594 2:29072199:C:T 2 29072199 C T 2:29295065 0.904493 378 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other bursitis, not elsewhere classified 0.00113 9.5833 2.9425 C2orf71 rs75276619 2:29072320:C:T 2 29072320 C T 2:29295186 0.966532 2002 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations of circulatory system 0.000537 2.6636 0.7695 Disorders of iron metabolism 0.0005727 123.221 35.776 C2orf71 rs10166913 2:29072523:G:A 2 29072523 G A 2:29295389 0.98983 9222 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not provided Hydatidiform mole 0.000188 1.7995 0.4819 Persons encountering health services for specific procedures, not carried out 0.0001181 5.588 1.451 C2orf71 rs17007544 2:29073000:T:C 2 29073000 T C 2:29295866 0.988907 8917 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Recessive Hydatidiform mole 0.000388 1.7179 0.4842 Persons encountering health services for specific procedures, not carried out 6.811e-05 6.46 1.622 ALK rs1881421 2:29193500:G:C 2 29193500 G C 2:29416366 0.99905 91283 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain (limb, back, neck, head abdominally) 0.00022 0.0259 0.007 0.0001417 0.046 0.012 ALK rs1881420 2:29193615:T:C 2 29193615 T C 2:29416481 0.999535 77280 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vulvovaginal ulceration/inflammation in other diseases 0.000266 -0.2618 0.0718 Other neurological diseases 0.0004229 0.065 0.018 ALK rs35228363 2:29275101:G:A 2 29275101 G A 2:29497967 0.995785 0.0183539 156 6587 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Neuroblastoma 3;Neuroblastoma Susceptibility;not provided;not specified Benign mammary dysplasia 7.83e-05 0.4745 0.1201 malignant neoplasm of male genital organs (other cancers excluded from controls) 0.0005528 1.875 0.543 ALK rs35093491 2:29320870:A:G 2 29320870 A G 2:29543736 0.998802 9797 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Neuroblastoma 3;Neuroblastoma Susceptibility;not provided;not specified Phakomatoses, not elsewhere classified 0.000748 1.5304 0.4539 Faecal incontinence 4.367e-05 3.499 0.856 CAPN14 rs181906086 2:31191964:G:A 2 31191964 G A 2:31414830 0.998139 0.0452464 702 15921 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lipoprotein metabolism and other lipidaemias 9.83e-05 -0.1405 0.0361 Other and unspecified mononeuropathies of lower limb 0.0002367 3.281 0.892 XDH rs143981573 2:31339616:G:T 2 31339616 G T 2:31562482 0.991395 508 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Iliotibial band syndrome 0.000114 11.4178 2.9594 XDH rs139515054 2:31341378:A:G 2 31341378 A G 2:31564244 0.989917 0.00114865 0 422 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhage in early pregnancy 8.54e-05 1.9761 0.503 XDH rs142675390 2:31349804:C:T 2 31349804 C T 2:31572670 0.982235 1301 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Ankylosing hyperostosis [Forestier] 0.000121 5.8718 1.5277 XDH rs17011368 2:31368051:T:C 2 31368051 T C 2:31590917 0.997596 10622 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Xanthinuria;not specified Otalgia 0.000746 0.5796 0.1719 Otalgia 0.001125 3 0.921 XDH rs17323225 2:31370399:T:C 2 31370399 T C 2:31593265 0.997129 10627 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Xanthinuria Otalgia 0.000719 0.5827 0.1723 Otalgia 0.0008201 3.291 0.984 XDH rs45523133 2:31388277:C:T 2 31388277 C T 2:31611143 0.994378 4518 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Xanthinuria Cutaneous abscess, furuncle and carbuncle 0.000646 -0.4317 0.1265 Cardiomyopathies, Primary/intrinsic 0.0005739 5.301 1.539 XDH rs182317768 2:31403053:C:A 2 31403053 C A 2:31625919 0.991593 0.00442584 12 1614 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Discitis, unspecified 7.67e-05 5.1428 1.3005 Crushing injury of wrist and hand 0.0004354 165.698 47.105 SPAST rs121908515 2:32063962:C:T 2 32063962 C T 2:32289031 0.921245 0.00391684 8 1431 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 4, autosomal dominant;Spastic paraplegia 4, modifier of;Spastic paraplegia, autosomal dominant;not provided;not specified Maternal care for known or suspected malpresentation of fetus 4.58e-05 1.1918 0.2924 Essential (haemorrhagic) thrombocythaemia 0.00154 56.289 17.774 SPAST rs121908517 2:32063965:C:A 2 32063965 C A 2:32289034 0.973765 337 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Gout, unspecified 0.000345 2.5901 0.7236 SPAST rs141944844 2:32087560:G:A 2 32087560 G A 2:32312629 0.998506 4747 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spastic paraplegia 4, autosomal dominant;Spastic paraplegia, autosomal dominant;not specified Migraine with aura 0.000265 0.444 0.1217 Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.001168 9.96 3.068 NLRC4 rs61754192 2:32224763:C:A 2 32224763 C A 2:32449832 0.995685 3242 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autoinflammation with infantile enterocolitis;Familial cold autoinflammatory syndrome 4 All influenza 0.000208 0.543 0.1464 Benign neoplasm: Stomach 2.796e-05 14.779 3.528 NLRC4 rs149451729 2:32238296:C:A 2 32238296 C A 2:32463365 0.993814 343 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spondylolisthesis/Spondylolysis 0.0016 1.9387 0.6142 NLRC4 rs113631419 2:32251386:C:T 2 32251386 C T 2:32476455 0.990251 0.000824741 0 303 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Trigeminal neuralgia 7.18e-05 6.4665 1.6287 BIRC6 rs150426823 2:32414970:A:C 2 32414970 A C 2:32640038 0.990463 1020 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Colon, unspecified 0.000108 1.0927 0.2822 Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 0.0001053 5.353 1.38 BIRC6 rs61757640 2:32464761:G:A 2 32464761 G A 2:32689829 0.99952 8325 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Essential (haemorrhagic) thrombocythaemia 3e-04 1.0869 0.3007 Open wound of lower leg 0.0002115 3.334 0.9 BIRC6 rs61754195 2:32464774:C:T 2 32464774 C T 2:32689842 0.994631 501 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cirrhosis, broad definition used in the article https://doi.org/10.1101/594523 0.00103 1.9393 0.5906 Migraine without aura 0.00189 53.711 17.287 BIRC6 rs61754200 2:32515228:C:G 2 32515228 C G 2:32740295 0.964878 2916 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary oedema 0.000171 3.1165 0.8293 Carpal tunnel syndrome 1.09e-05 3.524 0.801 BIRC6 rs61754241 2:32593943:G:A 2 32593943 G A 2:32819010 0.983839 627 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at ankle and foot level 0.000405 5.8661 1.6586 Migraine without aura 0.00159 53.916 17.074 LTBP1 rs61754247 2:33280135:G:A 2 33280135 G A 2:33505202 0.982927 656 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Right bundle-branch block 0.000248 5.0031 1.3653 Gluteal tendinitis 0.0003226 212.457 59.074 LTBP1 rs61751742 2:33342904:C:T 2 33342904 C T 2:33567971 0.977166 1526 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments at wrist and hand level 0.00023 0.7396 0.2008 Endometriosis 0.001267 3.148 0.977 LTBP1 rs141080282 2:33347499:G:A 2 33347499 G A 2:33572566 0.965908 0.00078119 0 287 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presence of other devices 8.62e-05 2.88 0.7335 CRIM1 rs149188754 2:36537489:C:T 2 36537489 C T 2:36764632 0.988076 793 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Special screening examination for infectious and parasitic diseases 0.000151 0.9197 0.2427 VIT rs140104536 2:36773813:C:G 2 36773813 C G 2:37000956 0.992107 0.0114076 54 4137 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seropositive rheumatoid arthritis, wide 1.57e-05 0.5181 0.1199 Carpal tunnel syndrome 0.0001334 2.104 0.551 NDUFAF7 rs72875762 2:37231755:G:A 2 37231755 G A 2:37458898 0.972232 308 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative ileocolitis 0.000517 5.3695 1.5467 NDUFAF7 rs139125264 2:37243971:C:A 2 37243971 C A 2:37471114 0.959904 230 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic retinopathy 0.000205 2.5445 0.6853 CYP1B1 rs1800440 2:38070996:T:C 2 38070996 T C 2:38298139 0.999485 46238 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Crohn's disease of small interstine 0.000205 0.2858 0.077 Nasal polyp 0.0001511 0.268 0.071 CYP1B1 rs4986888 2:38071026:G:C 2 38071026 G C 2:38298169 0.991857 129 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Venous complications and haemorrhoids in pregnancy 0.00144 18.1652 5.7015 CYP1B1 rs57865060 2:38074704:C:T 2 38074704 C T 2:38301847 0.942203 1130 missense_variant recessive Conflicting interpretations of pathogenicity, other VUS criteria provided, conflicting interpretations Criteria_multSubmitter Outcome of delivery 0.000514 0.7261 0.209 CYP1B1 rs1056827 2:38075034:C:A 2 38075034 C A 2:38302177 0.99899 84125 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abscess of Bartholin gland 0.00056 -0.3093 0.0896 Parkinson's disease (more controls excluded) 0.001506 -0.128 0.04 CYP1B1 rs9282671 2:38075148:A:T 2 38075148 A T 2:38302291 0.982347 5356 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Congenital ocular coloboma;Primary open angle glaucoma;not provided;not specified Mixed and other personality disorders 0.000115 0.6754 0.1751 Postydysenteric arthropathy 0.0002055 24.931 6.716 CYP1B1 rs10012 2:38075247:G:C 2 38075247 G C 2:38302390 0.999436 84196 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abscess of Bartholin gland 0.000983 -0.2944 0.0893 Parkinson's disease (more controls excluded) 0.001486 -0.127 0.04 SOS1 rs8192671 2:38996971:T:C 2 38996971 T C 2:39224112 0.998354 672 missense_variant dominant Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Valvular operations 0.000644 0.4101 0.1202 SOS1 rs56219475 2:39013966:G:A 2 39013966 G A 2:39241107 0.996248 4745 missense_variant dominant Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Rasopathy;not provided;not specified Type 2 diabetes, wide definition 0.000217 -0.2378 0.0643 Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.0001217 2.139 0.557 SOS1 rs201352584 2:39058785:A:C 2 39058785 A C 2:39285926 0.890687 110 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other congenital malformations of face and neck 0.000287 14.6925 4.051 THADA rs17334247 2:43320533:G:A 2 43320533 G A 2:43547672 0.969476 1445 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified acute skin changes due to ultraviolet radiation 0.00153 2.5203 0.7953 Leiomyoma of uterus 0.000724 4.066 1.203 THADA rs56269749 2:43398139:C:A 2 43398139 C A 2:43625278 0.99834 2136 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on examination of blood, without diagnosis 0.000233 0.508 0.138 Drug-induced hypoglycaemia without coma 0.001651 55.743 17.715 ABCG5 rs140374206 2:43813208:T:C 2 43813208 T C 2:44040347 0.963607 130 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-rheumatic valve diseases 0.000608 1.7735 0.5174 ABCG5 rs6720173 2:43813262:G:C 2 43813262 G C 2:44040401 0.998145 0.135973 6958 42997 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholelithiasis 1.22e-38 0.2556 0.0197 Cholelithiasis 5.43e-12 0.244 0.035 ABCG5 rs140899003 2:43819997:T:C 2 43819997 T C 2:44047136 0.994115 0.00574053 6 2103 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Disorders of gallbladder, biliary tract and pancreas 3.04e-05 -0.3333 0.0799 Carcinoma in situ of skin of other and unspecified parts of face 0.001246 65.544 20.303 ABCG5 rs141828689 2:43828024:C:T 2 43828024 C T 2:44055163 0.994913 0.00191351 0 703 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of gallbladder, biliary tract and pancreas 3.11e-08 -0.7983 0.1442 ABCG5 rs145164937 2:43832056:G:C 2 43832056 G C 2:44059195 0.94567 306 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cholelithiasis 0.000424 -0.8517 0.2416 ABCG5 rs6756629 2:43837951:G:A 2 43837951 G A 2:44065090 0.997274 0.082877 2548 27900 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sitosterolemia;not specified Cholelithiasis 3.83e-225 0.8144 0.0254 Cholelithiasis 9.933e-25 0.614 0.06 ABCG5 rs56204478 2:43838600:C:G 2 43838600 C G 2:44065739 0.889179 436 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acquired haemolytic anaemia 0.00042 7.9972 2.2673 ABCG8 rs11887534 2:43839108:G:C 2 43839108 G C 2:44066247 0.998408 0.0844584 2646 28383 missense_variant recessive Benign/Likely benign, risk factor risk factor criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gallbladder disease 4;Sitosterolemia;not specified Cholelithiasis 2.48e-236 0.8264 0.0252 Cholelithiasis 8.346e-28 0.641 0.059 ABCG8 rs4148211 2:43844604:A:G 2 43844604 A G 2:44071743 0.991933 0.442573 72234 90362 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 3.4e-22 -0.5238 0.0541 Intrahepatic Cholestasis of Pregnancy (ICP) 7.438e-13 -0.36 0.05 ABCG8 rs763000556 2:43852444:C:T 2 43852444 C T 2:44079583 0.878452 84 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dizziness and giddiness 0.000174 1.8268 0.4865 ABCG8 rs34754243 2:43852616:G:A 2 43852616 G A 2:44079755 0.977984 0.000740362 0 272 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Medical abortion 5.11e-06 1.647 0.3612 ABCG8 rs137852987 2:43872094:G:A 2 43872094 G A 2:44099233 0.996874 0.00276819 6 1011 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sitosterolemia;not provided Cholelithiasis 9.54e-07 -0.6443 0.1315 0 2.892 0 ABCG8 rs4148217 2:43872294:C:A 2 43872294 C A 2:44099433 0.983786 0.216158 17372 62042 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 1.23e-10 0.4263 0.0663 Intrahepatic Cholestasis of Pregnancy (ICP) 2.91e-05 0.388 0.093 ABCG8 rs6544718 2:43877786:T:C 2 43877786 T C 2:44104925 0.975634 53634 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other intracranial haemorrhages 0.000314 -0.4522 0.1255 7.823e-05 -0.094 0.024 ABCG8 rs113005049 2:43877815:G:A 2 43877815 G A 2:44104954 0.985899 671 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsuppurative otitis media 0.0012 1.0461 0.323 LRPPRC rs769208540 2:43949613:CGA:C 2 43949613 CGA C 2:44176752 0.954017 262 pLoF recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin, unspecified 0.00105 5.7727 1.7621 LRPPRC rs115507225 2:43963650:T:C 2 43963650 T C 2:44190789 0.916693 225 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis 0.00205 1.1474 0.3721 Respiratory distress of newborn 0.001829 36.579 11.736 LRPPRC rs540850536 2:43995779:G:C 2 43995779 G C 2:44222918 0.896743 1304 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other female pelvic inflammatory diseases 0.00078 0.9199 0.2738 Certain zoonotic bacterial diseases 0.0003898 150.487 42.428 LRPPRC rs181626399 2:43995884:G:C 2 43995884 G C 2:44223023 0.94428 340 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Childhood asthma (age<16) 0.000119 2.2967 0.5967 PPM1B rs139541400 2:44230419:G:A 2 44230419 G A 2:44457558 0.964171 584 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Left bundle-branch block 0.000362 3.3067 0.9272 SLC3A1 rs140317484 2:44280851:C:T 2 44280851 C T 2:44507990 0.925004 58 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute epiglottitis 0.000175 48.0206 12.7987 SLC3A1 rs141587158 2:44286063:T:C 2 44286063 T C 2:44513202 0.951363 89 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postmenopausal osteoporosis with pathological fracture 0.000447 13.7364 3.9128 SLC3A1 rs1461067691 2:44301128:GT:G 2 44301128 GT G 2:44528267 0.99893 32211 LC both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Effects of foreign body entering through natural orifice 0.00135 -0.1384 0.0432 Horner syndrome 7.555e-05 2.582 0.652 SLC3A1 rs121912691 2:44312653:T:C 2 44312653 T C 2:44539792 0.905324 451 missense_variant both Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transient global amnesia 0.00153 2.2966 0.725 SLC3A1 rs698761 2:44320435:G:A 2 44320435 G A 2:44547574 0.998557 0.603329 134298 87358 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholelithiasis, broad definition with cholecystitis 1.71e-14 0.1023 0.0133 Cholelithiasis, broad definition with cholecystitis 2.698e-10 0.06 0.01 PREPL rs149012504 2:44321418:C:T 2 44321418 C T 2:44548557 0.92814 324 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of the ear and mastoid process 0.000909 0.5258 0.1585 PREPL rs138555092 2:44343945:T:C 2 44343945 T C 2:44571084 0.960293 552 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes with other specified/multiple/unspecified complications 0.000194 1.4571 0.391 PREPL rs138377728 2:44346275:T:C 2 44346275 T C 2:44573414 0.94745 0.00374264 12 1363 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myasthenic syndrome, congenital, 22 malignant neoplasm of male genital organs 8e-05 0.8001 0.2029 Lesion of sciatic nerve 0.004693 18.358 6.493 PREPL rs199854790 2:44359497:C:A 2 44359497 C A 2:44586636 0.979751 1206 LC recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Alcohol related diseases, tilastokeskus definition 0.00251 0.4134 0.1368 Endovascular or surgical operations to intracerebral aneurysms 0.0005884 12.326 3.586 EPAS1 rs150797491 2:46376625:T:A 2 46376625 T A 2:46603764 0.947235 1256 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial erythrocytosis Single delivery by caesarean section 0.000175 0.828 0.2206 Emotional disorders and disorders of social functioning with onset specific to childhood 3.175e-05 3398.223 816.774 EPAS1 rs59901247 2:46382433:A:C 2 46382433 A C 2:46609572 0.99927 0.0192793 138 6945 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial erythrocytosis Disorders of globe 3.78e-05 1.5187 0.3686 0.0001132 10.005 2.592 PIGF rs113562214 2:46614980:A:G 2 46614980 A G 2:46842119 0.952948 1814 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydrocephalus 0.000283 1.9698 0.5426 Toxic liver disease 0.0005004 374.961 107.73 TTC7A rs201805434 2:46941717:C:G 2 46941717 C G 2:47168856 0.932793 0.000669592 0 246 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alergic contact dermatitis 7.79e-05 3.3031 0.8361 TTC7A rs61746139 2:46956927:G:T 2 46956927 G T 2:47184066 0.895485 1198 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Multiple gastrointestinal atresias Alcohol related diseases and deaths, all endoints 0.000141 -0.5402 0.1419 Other diseases of pleura 0.0004428 17.953 5.11 TTC7A rs147471840 2:46975018:G:A 2 46975018 G A 2:47202157 0.854373 77 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cushing syndrome 0.000237 42.9641 11.6866 TTC7A rs146719089 2:46994412:A:G 2 46994412 A G 2:47221551 0.931735 149 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Amyloidosis 0.00356 11.6672 4.0029 TTC7A rs114276698 2:47011391:G:A 2 47011391 G A 2:47238530 0.957751 0.000963559 0 354 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transport accidents 4.51e-05 15.1004 3.7015 TTC7A rs150438028 2:47021916:G:A 2 47021916 G A 2:47249055 0.984377 614 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intracranial injury 0.000122 0.8307 0.2162 Olecranon bursitis 0.0005742 135.915 39.47 TTC7A rs139010200 2:47046329:A:G 2 47046329 A G 2:47273468 0.983333 566 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Multiple gastrointestinal atresias;Multiple gastrointestinal atresias;not provided Pneumonia due to other infectious organisms, not elsewhere classified 0.000467 5.6212 1.6065 Carcinoma in situ of breast, intraductal 0.004753 18.567 6.576 TTC7A rs149602485 2:47050043:T:C 2 47050043 T C 2:47277182 0.991624 574 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pneumonia due to other infectious organisms, not elsewhere classified 0.000487 5.5519 1.5919 TTC7A rs140166160 2:47060786:C:A 2 47060786 C A 2:47287925 0.902576 260 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ingrowing nail 0.000146 6.1516 1.6201 EPCAM rs147494515 2:47373565:C:T 2 47373565 C T 2:47600704 0.93298 42 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other vitreous opacities 0.000547 28.2917 8.1842 EPCAM rs146480420 2:47373890:G:C 2 47373890 G C 2:47601029 0.987096 490 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specified congenital malformation syndromes affecting multiple systems 0.000263 9.2117 2.5242 EPCAM rs1126497 2:47373967:T:C 2 47373967 T C 2:47601106 0.995788 88484 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of breast, intraductal (other cancers excluded from controls) 0.000171 -0.2104 0.056 Urticaria 0.0009224 -0.057 0.017 EPCAM rs115283528 2:47379942:A:G 2 47379942 A G 2:47607081 0.993734 624 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other obstructed labour 0.00234 2.5131 0.826 EPCAM rs201314303 2:47385163:C:G 2 47385163 C G 2:47612302 0.981815 350 LC recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Carrier of infectious disease 0.00221 7.4313 2.4279 MSH2 rs17217716 2:47403214:C:T 2 47403214 C T 2:47630353 0.986489 445 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Mental and behavioural disorders due to tobacco 0.000254 3.5028 0.9575 MSH2 rs4987188 2:47416318:G:A 2 47416318 G A 2:47643457 0.997187 10754 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;Lynch syndrome I;MSH2 POLYMORPHISM;not provided;not specified Maternal care for known or suspected malpresentation of fetus 0.000394 0.3436 0.097 0.0005109 6.809 1.96 MSH2 rs758636279 2:47445637:A:G 2 47445637 A G 2:47672776 0.913155 89 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Foreign body on external eye 0.0015 4.1038 1.2929 MSH2 rs116117580 2:47512394:G:A 2 47512394 G A 2:47739533 0.958363 3122 missense_variant both not provided not_provided no assertion provided none not specified Pain associated with micturition 0.000821 0.7954 0.2377 Tobacco use 0.001578 52.483 16.609 MSH2 rs2303424 2:47512412:A:G 2 47512412 A G 2:47739551 0.99901 92092 missense_variant both Benign (likely)Benign no assertion criteria provided no_Criteria Poisoning by medicine 0.000157 0.0985 0.0261 4.727e-05 0.237 0.058 MSH6 rs1042821 2:47783349:G:A 2 47783349 G A 2:48010488 0.989369 43169 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Ingrowing nail 0.000569 0.2946 0.0855 Injury of muscle and tendon at lower leg level 0.001142 -0.298 0.092 MSH6 rs3211299 2:47791097:G:T 2 47791097 G T 2:48018236 0.978378 543 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Colorectal cancer, non-polyposis;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;not provided;not specified Injury of nerves at lower leg level 0.000132 11.6461 3.0468 Multiple myeloma and malignant plasma cell neoplasms 0.002012 43.993 14.245 MSH6 rs1800937 2:47798625:C:T 2 47798625 C T 2:48025764 0.994422 45847 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Maternal care for other conditions predominantly related to pregnancy 0.000377 0.148 0.0416 Siatica+with lumbago 9.894e-05 0.176 0.045 MSH6 rs730881789 2:47799134:G:T 2 47799134 G T 2:48026273 0.956059 122 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Noninflammatory disorders of female genital tract 0.000604 0.8463 0.2468 MSH6 rs2020908 2:47799169:C:G 2 47799169 C G 2:48026308 0.993462 6602 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Lynch syndrome;Lynch syndrome I;not provided;not specified Intestinal infectious diseases 0.000277 0.1549 0.0426 Burn and corrosion of shoulder and upper limb, except wrist and hand 0.0005589 14.254 4.131 MSH6 rs2020912 2:47800616:T:C 2 47800616 T C 2:48027755 0.884331 317 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Inflammatory disease of uterus 0.000222 2.7562 0.7465 MSH6 rs63750442 2:47803546:C:G 2 47803546 C G 2:48030685 0.985202 0.00114593 4 417 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Endometrial carcinoma;Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 5;Hereditary nonpolyposis colorectal cancer type 5;Inborn genetic diseases;Lynch syndrome;Turcot syndrome;not provided;not specified Coeliac disease 2.35e-05 2.673 0.6321 Keratitis and keratoconjunctivitis in other diseases classified elsewhere 0.001143 73.321 22.542 PPP1R21 rs142541304 2:48495758:G:T 2 48495758 G T 2:48722897 0.969181 353 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of femur 0.000428 1.7303 0.4913 LHCGR rs2293275 2:48694236:T:C 2 48694236 T C 2:48921375 0.99264 89873 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Progressive vascular leukoencephalopathy 0.000346 0.3711 0.1037 Type 2 diabetes, strict (exclude DM1) 7.839e-05 -0.035 0.009 LHCGR rs12470652 2:48694299:T:C 2 48694299 T C 2:48921438 0.994098 22126 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gonadotropin-independent familial sexual precocity;Hypergonadotropic hypogonadism;Leydig cell agenesis;not specified Disorders of iron metabolism 0.00107 0.9217 0.2817 Monoarthritis, not elsewhere classified 0.0008005 1.402 0.418 LHCGR rs140691492 2:48725722:A:T 2 48725722 A T 2:48952861 0.963072 271 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Traumatic subarachnoid haemorrhage 0.00107 9.4562 2.8909 LHCGR rs188002889 2:48755616:G:GGCTGCA 2 48755616 G GGCTGCA 2:48982755 0.993193 0.201005 14848 58999 inframe_indel both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other bursitis, not elsewhere classified 9.09e-05 0.6439 0.1645 0.0003828 -0.052 0.015 FSHR rs6166 2:48962782:C:T 2 48962782 C T 2:49189921 0.999984 90297 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Antenatal screening 0.000412 -0.05 0.0142 Antenatal screening 0.000256 -0.039 0.011 FSHR rs6165 2:48963902:C:T 2 48963902 C T 2:49191041 0.999188 90318 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Antenatal screening 0.000413 -0.0501 0.0142 Antenatal screening 0.0002889 -0.039 0.011 FSHR rs121909658 2:48983125:G:A 2 48983125 G A 2:49210264 0.905428 0.005961 20 2170 missense_variant both Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Ovarian dysgenesis 1 Ovarian dysfunction 7.61e-06 2.0741 0.4634 Primary ovarian failure 1.956e-05 204.516 47.897 FSHR rs111883853 2:48989016:C:T 2 48989016 C T 2:49216155 0.986242 4779 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ovarian Dysgenesis;Ovarian hyperstimulation syndrome Urehtritis and urethral syndrome 0.000189 1.7042 0.4565 Malignant neoplasm of stomach 0.003025 6.005 2.025 NRXN1 rs9636391 2:49973972:A:G 2 49973972 A G 2:50201110 0.99985 43084 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mouth breathing 0.000722 -0.0968 0.0286 Mouth breathing 0.0008996 -0.053 0.016 NRXN1 rs56086732 2:50538274:G:T 2 50538274 G T 2:50765412 0.99237 1615 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter History of neurodevelopmental disorder;Pitt-Hopkins-like syndrome 2;not provided;not specified Infections of breast associated with childbirth 0.000208 2.8246 0.7614 Malignant neoplasm of respiratory system and intrathoracic organs 0.0001954 20.724 5.564 NRXN1 rs200074974 2:50538451:T:C 2 50538451 T C 2:50765589 0.975665 138 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Human immunodeficiency virus [HIV] disease 0.000986 9.6018 2.9144 NRXN1 rs78540316 2:50620057:G:A 2 50620057 G A 2:50847195 0.994462 0.0137947 82 4986 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Pitt-Hopkins-like syndrome 2;not specified Abdominal and pelvic pain 2.33e-05 0.1491 0.0352 Other disorders of urethra and urinary system 0.000869 1.167 0.35 NRXN1 rs200184823 2:51027972:G:C 2 51027972 G C 2:51255110 0.949526 301 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Liver/bile ducts 0.00012 11.164 2.9033 TSPYL6 rs754017156 2:54255566:GGGGCCC:G 2 54255566 GGGGCCC G 2:54482703 0.998336 0.138442 7036 43826 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy 6.93e-05 -0.1805 0.0454 Superficial injury of hip and thigh 0.0003701 0.368 0.103 RTN4 rs146701040 2:55025218:G:C 2 55025218 G C 2:55252354 0.853589 355 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enterocolitis due to Clostridium difficile 0.000344 3.3032 0.9228 Benign neoplasm: Brain, supratentorial 0.0002034 342.429 92.18 RTN4 rs80121116 2:55025659:G:T 2 55025659 G T 2:55252795 0.990142 0.00281446 4 1030 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contusion of toe(s) without damage to nail 3.73e-05 5.7787 1.4013 Injuries to unspecified part of trunk, limb or body region 0.001827 48.432 15.538 PNPT1 rs7594497 2:55645403:T:C 2 55645403 T C 2:55872538 0.99981 0.0367214 608 12883 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Chronic diseases of tonsils and adenoids 4.43e-05 -0.1296 0.0317 Other and/or unspecified nontoxic goitre 0.0007215 1.633 0.483 PNPT1 rs782572 2:55684985:T:C 2 55684985 T C 2:55912120 0.996578 90412 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nausea and vomiting 0.000126 -0.1008 0.0263 Retinal vein occlusion (central or branch) 0.0001249 0.249 0.065 PNPT1 rs140796438 2:55693702:C:G 2 55693702 C G 2:55920837 0.994606 2599 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Arthropod-borne viral fevers and viral haemorrhagic fevers 0.000208 1.014 0.2734 Procedures for purposes other than remedying health state 0.002257 41.492 13.586 EFEMP1 rs55849640 2:55918036:T:G 2 55918036 T G 2:56145171 0.967431 0.000544384 2 198 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter malignant neoplasm of female genital organs 7.49e-05 2.6644 0.6728 FANCL rs759217526 2:58159793:G:GTAAT 2 58159793 G GTAAT 2:58386928 0.914759 558 LC recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Unspefcified behauvioural syndromes associated with physiological disturbances and physical factors +Phsyiological and behauvioural factors associated with disorders of diseases classified elsewhere 0.000161 7.74 2.0513 FANCL rs149731356 2:58165745:T:C 2 58165745 T C 2:58392880 0.998656 11399 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not provided;not specified Diseases of the respiratory system 0.000129 -0.074 0.0193 Polyarhtrosis 0.001015 1.513 0.46 FANCL rs55849827 2:58232097:G:A 2 58232097 G A 2:58459232 0.975885 3280 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not provided;not specified Injuries to the knee and lower leg 0.000202 -0.2004 0.0539 Problems related to life-management difficulty 0.001122 9.902 3.039 PEX13 rs771610641 2:61017848:T:C 2 61017848 T C 2:61244983 0.930824 387 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hard cardiovascular diseases 0.000142 0.7587 0.1994 PEX13 rs147707348 2:61031681:G:A 2 61031681 G A 2:61258816 0.995021 1484 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Zellweger syndrome;not specified Congenital malformations of uterus and cervix 0.000113 4.0537 1.0502 Single delivery by caesarean section 2.115e-06 4.392 0.926 PEX13 rs74350038 2:61048636:C:G 2 61048636 C G 2:61275771 0.986832 10971 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Peroxisome biogenesis disorder 11A;Zellweger syndrome Vascular diseases of the intestine 0.000521 0.8448 0.2435 Vascular dementia (multiple infarctations) 0.0009572 4.73 1.432 USP34 rs62623573 2:61349269:T:G 2 61349269 T G 2:61576404 0.966699 0.00352488 8 1287 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Prolonged pregnancy 6.49e-05 1.4627 0.3662 Convergent concomitant strabismus 0.00252 34.267 11.343 FAM161A rs139266382 2:61839851:G:C 2 61839851 G C 2:62066986 0.987729 880 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Otherdisorders of bone 0.000456 1.0566 0.3014 0.001328 64.497 20.093 FAM161A rs187695569 2:61839871:A:C 2 61839871 A C 2:62067006 0.996702 1214 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinitis pigmentosa 28;not provided Outcome of delivery 0.000205 0.7784 0.2097 Hydrocele 1.749e-05 10.533 2.453 FAM161A rs17513722 2:61840298:T:C 2 61840298 T C 2:62067433 0.998946 55327 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the wrist and hand 0.000225 0.0573 0.0155 Arthropathies in other diseases classified elsewhere 0.0002239 0.565 0.153 FAM161A rs11125895 2:61842223:T:C 2 61842223 T C 2:62069358 0.99251 46679 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Undetermined asthma 0.000153 0.2132 0.0563 Vitamin D deficiency 8.495e-05 1.45 0.369 FAM161A rs145199539 2:61842347:G:A 2 61842347 G A 2:62069482 0.980073 240 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Oesophageal obstruction 0.00264 6.842 2.2759 B3GNT2 rs78968142 2:62222628:T:A 2 62222628 T A 2:62449763 0.981632 5220 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular pucker 0.000235 0.7745 0.2106 Other arthrosis 0.0006521 1.383 0.406 WDPCP rs61734468 2:63174685:T:C 2 63174685 T C 2:63401820 0.961557 1708 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bardet-Biedl syndrome;Bardet-Biedl syndrome 1;not provided;not specified Benign neoplasm: Ascending colon 0.000564 1.2442 0.3608 Family history of certain disabilities and chronic diseases leading to disablement 0.001899 42.77 13.772 WDPCP rs61734466 2:63404150:C:G 2 63404150 C G 2:63631285 0.962095 1506 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bardet-Biedl syndrome;not provided;not specified Non-ischemic cardiomyopathy 0.000351 -0.4828 0.1351 Polycythaemia vera 0.0005485 127.791 36.978 WDPCP rs199959383 2:63404498:C:T 2 63404498 C T 2:63631633 0.992528 1848 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bardet-Biedl syndrome;not provided Anxiety disorders (more controls excluded) 0.00038 -0.3383 0.0952 9.716e-05 1.874 0.481 WDPCP rs17617459 2:63433768:C:T 2 63433768 C T 2:63660902 0.998878 35563 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Motor neuron disease 0.000642 0.6376 0.1868 Inflammation of lacrimal passages (acute and unspecified) 0.0003757 1.617 0.455 WDPCP rs200170138 2:63486575:C:G 2 63486575 C G 2:63713709 0.934243 524 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cauda equina syndrome 0.000113 11.4049 2.9536 LGALSL rs147305037 2:64458296:T:C 2 64458296 T C 2:64685430 0.975982 3043 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vertigo of central origin 0.000186 2.8922 0.7738 Pure hyperglyceridaemia 0.002889 33.91 11.382 SLC1A4 rs149636167 2:64989683:G:A 2 64989683 G A 2:65216817 0.87205 440 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Primary ovarian failure 0.000298 9.5066 2.628 Primary ovarian failure 0.001206 186.459 57.593 CEP68 rs141499084 2:65072196:T:A 2 65072196 T A 2:65299330 0.986502 4474 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified hydrocephalus 0.000661 2.2448 0.6592 Dislocation of lens 0.002398 39.867 13.132 RAB1A rs61748092 2:65088545:T:C 2 65088545 T C 2:65315679 0.986553 2188 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Duodenal ulcer 0.00104 0.8714 0.2658 Other disorders of skin and subcutaneous tissue 3.546e-06 5.335 1.151 PLEK rs34338164 2:68388414:A:C 2 68388414 A C 2:68615546 0.996308 9173 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension complicating pregnancy, childbirth, and the puerperium 0.000333 0.2226 0.062 Cardiac murmurs and other cardiac sounds 0.001787 2.599 0.832 GFPT1 rs190072721 2:69328282:C:T 2 69328282 C T 2:69555414 0.996805 1815 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital myasthenic syndrome 12;not specified Complications of labour and delivery 0.000107 -0.3391 0.0875 Diplopia 0.0006445 12.686 3.718 NFU1 rs74637005 2:69423598:G:A 2 69423598 G A 2:69650730 0.98653 7011 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple mitochondrial dysfunctions syndrome;not provided;not specified Acute and subacute iridocyclitis 0.000195 0.4073 0.1094 Pure hypercholesterolaemia 0.005172 0.917 0.328 NFU1 rs4453725 2:69431994:A:T 2 69431994 A T 2:69659126 0.998835 87895 start_lost recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spondylopathies 0.000171 -0.0522 0.0139 Schizoaffective disorder 5.6e-05 0.175 0.043 AAK1 rs55889248 2:69507504:G:A 2 69507504 G A 2:69734636 0.951441 1639 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mood disorders (more controls excluded) 0.000742 0.3242 0.0961 Pneumonia due to other infectious organisms, not elsewhere classified 0.00132 64.323 20.028 C2orf42 rs148471734 2:70181459:G:A 2 70181459 G A 2:70408591 0.97369 607 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Disorders of the thyroid gland 0.00052 -0.4803 0.1384 Vitiligo 0.0009083 76.858 23.167 TIA1 rs116621885 2:70212810:T:C 2 70212810 T C 2:70439942 0.976134 2738 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Welander distal myopathy;not specified Alzheimer's disease, wide definition 0.000173 0.5436 0.1448 Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs (other cancers excluded from controls) 0.001127 9.485 2.913 ADD2 rs34241538 2:70706359:C:T 2 70706359 C T 2:70933491 0.997293 1043 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD differential diagnosis 0.000156 0.2471 0.0653 Erythema intertrigo 0.0004142 172.826 48.947 FIGLA rs7566476 2:70785602:C:G 2 70785602 C G 2:71012734 0.997534 0.625211 143720 85975 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of wrist and hand 8.39e-05 0.3163 0.0804 Burn and corrosion of wrist and hand 0.0009322 0.186 0.056 CD207 rs200837270 2:70831747:A:G 2 70831747 A G 2:71058878 0.974195 0.000835629 0 307 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Congenital malformations and deformations of the musculoskeletal system 1.34e-05 4.9992 1.1483 ATP6V1B1 rs11681642 2:70935956:T:C 2 70935956 T C 2:71163086 0.991849 91569 start_lost recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified psoriasis 0.000742 0.2017 0.0598 Thrombocytopenia, unspecified 6.532e-05 0.192 0.048 ATP6V1B1 rs17720303 2:70936043:C:T 2 70936043 C T 2:71163173 0.990068 48415 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified abdominal hernia 0.000114 -0.3828 0.0992 Open wound of head 0.001197 0.135 0.042 ATP6V1B1 rs114234874 2:70959974:G:A 2 70959974 G A 2:71187104 0.998991 0.04762 854 16641 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal tubular acidosis with progressive nerve deafness;not specified Benign neoplasm: Skin of ear and external auricular canal (other cancers excluded from controls) 3.75e-05 0.6911 0.1677 0.0009565 -0.178 0.054 ATP6V1B1 rs145735762 2:70962806:C:T 2 70962806 C T 2:71189936 0.92372 0.000457282 0 168 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Foreign body on external eye 7.65e-05 4.2299 1.0695 MCEE rs138436961 2:71110074:G:A 2 71110074 G A 2:71337204 0.990655 7658 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Methylmalonyl-CoA epimerase deficiency;not provided Chronic nephritic syndrome 0.000282 0.7544 0.2077 Glomerular disorders in diseases classified elsewhere 0.00013 3.685 0.963 MCEE rs6748672 2:71124273:C:A 2 71124273 C A 2:71351403 0.996897 33964 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Methylmalonic acidemia;not specified Other disorders of cornea 0.00018 0.2925 0.0781 Primary coxarthrosis, bilateral 0.0003681 0.322 0.09 MCEE rs11541017 2:71124357:G:A 2 71124357 G A 2:71351487 0.998344 87927 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified bacterial intestinal infections 0.000503 -0.191 0.0549 0.0006613 -0.042 0.012 DYSF rs34997054 2:71511847:G:A 2 71511847 G A 2:71738977 0.887292 253 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Diseases of the musculoskeletal system and connective tissue 0.000256 0.5554 0.1519 DYSF rs34999029 2:71513767:C:A 2 71513767 C A 2:71740897 0.987227 3873 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dysferlinopathy;not specified Postprocedural musculoskeletal disorders, not elsewhere classified 0.000605 1.0955 0.3194 Abscess of external ear 7.586e-05 35.72 9.027 DYSF rs150724610 2:71526286:G:C 2 71526286 G C 2:71753416 0.949693 2608 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dysferlinopathy;Limb-girdle muscular dystrophy, type 2B;not provided;not specified Other disorders of binocular vision 0.00194 2.2863 0.7378 Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.0007474 11.281 3.346 DYSF rs61740288 2:71535283:G:A 2 71535283 G A 2:71762413 0.992653 7925 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dysferlinopathy;not provided;not specified Other and unspecidied mood [affective] disorders 0.00185 0.5202 0.1671 Adhesive capsulitis of shoulder 0.000416 1.806 0.512 DYSF rs141867897 2:71553135:T:C 2 71553135 T C 2:71780265 0.989798 328 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fitting and adjustment of other devices 0.000762 1.1875 0.3528 Psychiatric diseases 0 2.608 0 DYSF rs139754493 2:71553842:A:G 2 71553842 A G 2:71780972 0.985326 290 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Vitamin D deficiency 0.00037 13.8744 3.8965 DYSF rs148652047 2:71553926:C:T 2 71553926 C T 2:71781056 0.833121 54 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Antenatal screening 0.00118 1.9531 0.602 DYSF rs886042275 2:71556008:G:A 2 71556008 G A 2:71783138 0.935627 87 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Personal history of risk-factors, not elsewhere classified 0.000112 58.8677 15.2394 DYSF rs34671418 2:71564202:A:G 2 71564202 A G 2:71791332 0.996078 12188 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dysferlinopathy;Limb-Girdle Muscular Dystrophy, Recessive;Miyoshi myopathy;not specified Polyarhtrosis 0.000352 0.3271 0.0915 Dystonia 0.0006425 2.566 0.752 DYSF rs200487610 2:71567978:C:T 2 71567978 C T 2:71795108 0.99054 422 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypokalaemia 0.000261 3.0273 0.8291 DYSF rs144636654 2:71569911:A:T 2 71569911 A T 2:71797041 0.967394 542 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Degeneration of macula and posterior pole 0.000932 0.9902 0.2991 DYSF rs34211915 2:71570632:G:A 2 71570632 G A 2:71797762 0.9984 0.0365526 542 12887 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dysferlinopathy;not specified Polyarhtrosis 6.13e-05 0.3543 0.0884 Dystonia 0.0001551 2.768 0.732 DYSF rs202034789 2:71574204:C:CAGGCGG 2 71574204 C CAGGCGG 2:71801334 0.955448 10446 inframe_indel recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Substance use, excluding alcohol 0.00107 0.2793 0.0854 Disorders of sclera, cornea, iris and ciliary body 0.0004008 0.806 0.228 DYSF rs121908954 2:71602794:A:G 2 71602794 A G 2:71829924 0.992457 2546 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dysferlinopathy;Limb-girdle muscular dystrophy, type 2B;Miyoshi muscular dystrophy 1;not provided;not specified Foreign body on external eye 0.000243 0.7781 0.2121 Disorders of lacrimal system and orbit in diseases classified elsewhere 0.002806 35.237 11.792 DYSF rs147950418 2:71611308:C:G 2 71611308 C G 2:71838438 0.990239 896 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dysferlinopathy;not provided;not specified Polycythaemia vera 0.00048 3.6058 1.0326 Other diseases of upper respiratory tract 0 2.631 0 DYSF rs61742872 2:71611333:G:T 2 71611333 G T 2:71838463 0.991032 0.0346527 464 12267 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dysferlinopathy;not specified Lichen simplex chronicus 7.6e-05 0.8862 0.224 Prolonged pregnancy 0.0004492 1.811 0.516 DYSF rs138268837 2:71612672:C:G 2 71612672 C G 2:71839802 0.998003 1539 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Dysferlinopathy;Limb-girdle muscular dystrophy, type 2B;not provided;not specified Nonhereditary hypogammaglobulinemia 0.000441 4.4171 1.257 Female genital prolapse 2.413e-05 2.247 0.532 DYSF rs772664716 2:71659026:A:G 2 71659026 A G 2:71886156 0.932712 397 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chrystal arthropathies, rheuma endpoint 0.000541 11.9878 3.465 DYSF rs146384562 2:71660585:T:C 2 71660585 T C 2:71887715 0.986162 0.00176108 0 647 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malnutrition 1.55e-05 12.1813 2.8188 DYSF rs141137410 2:71664407:G:T 2 71664407 G T 2:71891537 0.994151 1584 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Dysferlinopathy;Limb-Girdle Muscular Dystrophy, Recessive;Miyoshi myopathy;not provided;not specified Nonhereditary hypogammaglobulinemia 0.000493 4.3086 1.2365 Female genital prolapse 2.413e-05 2.247 0.532 EXOC6B rs188707447 2:72179342:T:C 2 72179342 T C 2:72406471 0.996782 1866 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behavioural syndromes associated with physiological disturbances and physical factors 0.000797 -0.5916 0.1764 Excessive, freguent and irrelgular menstruation 5.637e-07 4.023 0.804 EXOC6B rs200227562 2:72480743:T:C 2 72480743 T C 2:72707872 0.953001 179 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degeneration of the brain due to alcohol 0.000469 12.6207 3.6081 SPR rs146099322 2:72887544:G:A 2 72887544 G A 2:73114673 0.929149 1605 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dystonia;not provided;not specified Arthropathies 0.000211 0.2287 0.0617 Benign neoplasm: Lip (other cancers excluded from controls) 0.0006591 91.249 26.79 ALMS1 rs3813227 2:73424839:C:T 2 73424839 C T 2:73651967 0.999564 63580 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammation of lacrimal passages (chronic) 0.000544 0.4309 0.1246 Chlocystitis 0.0005976 -0.201 0.059 ALMS1 rs45630557 2:73426482:G:A 2 73426482 G A 2:73653610 0.941465 991 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alstrom syndrome;not provided;not specified Hyperprolactinaemia 0.000237 3.0589 0.8322 6.701e-05 -1.427 0.358 ALMS1 rs73945001 2:73447980:A:G 2 73447980 A G 2:73675110 0.977932 446 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Paranoid personality disorder 0.000354 5.8219 1.6297 ALMS1 rs41291187 2:73448398:A:G 2 73448398 A G 2:73675525 0.978725 7879 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alstrom syndrome;Monogenic diabetes;not specified Degeneration of macula and posterior pole 0.000148 0.2836 0.0747 0.0006944 0.396 0.117 ALMS1 rs2037814 2:73448542:T:G 2 73448542 T G 2:73675669 0.998502 0.846399 263344 47613 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 9.81e-06 -0.1465 0.0331 Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 4.604e-05 -0.076 0.019 ALMS1 rs201074268 2:73449838:G:A 2 73449838 G A 2:73676965 0.990556 1242 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alstrom syndrome;not specified Hypertensive Renal Disease 0.000156 2.9388 0.7771 Arthropathies 0 1.711 0 ALMS1 rs201874722 2:73451412:C:T 2 73451412 C T 2:73678539 0.975748 752 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Alstrom syndrome;not provided Other maternal disorders predominantly related to pregnancy 0.000368 -0.6058 0.1701 Other and unspecified mental retardation 0.0009461 86.396 26.132 ALMS1 rs28730853 2:73451489:G:T 2 73451489 G T 2:73678616 0.997462 6148 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alstrom syndrome;Monogenic diabetes;not provided;not specified Sensorineural hearing loss 0.000263 -0.1938 0.0531 Multiple myeloma and malignant plasma cell neoplasms (other cancers excluded from controls) 8.209e-05 10.183 2.586 ALMS1 rs201390755 2:73451716:A:G 2 73451716 A G 2:73678843 0.98367 318 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Schizoaffective disorder 0.000275 3.6104 0.9925 ALMS1 rs45608038 2:73451886:A:G 2 73451886 A G 2:73679013 0.989503 12735 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alstrom syndrome;not specified Congenital musculoskeletal deformities of head, face, spine and chest 0.00175 1.1249 0.3595 Acute renal failure 0.0002787 1.495 0.411 ALMS1 rs6546838 2:73452153:A:G 2 73452153 A G 2:73679280 0.999338 63646 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammation of lacrimal passages (chronic) 0.000584 0.4281 0.1245 Chlocystitis 0.0005397 -0.202 0.058 ALMS1 rs17009061 2:73452313:G:A 2 73452313 G A 2:73679440 0.996684 6185 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alstrom syndrome;Monogenic diabetes;not provided;not specified Sensorineural hearing loss 0.000233 -0.1947 0.0529 Multiple myeloma and malignant plasma cell neoplasms (other cancers excluded from controls) 0.0001083 9.355 2.417 ALMS1 rs10496192 2:73452739:T:C 2 73452739 T C 2:73679866 0.999683 41028 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter conjunctival degenerations and deposits 0.000102 0.5165 0.1329 Melanocytic naevi of scalp and neck 0.0003162 1.005 0.279 ALMS1 rs28730854 2:73452829:C:T 2 73452829 C T 2:73679956 0.985561 6973 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Malignant neoplasm of colon 0.000432 -0.4892 0.139 Nonalcoholic fatty liver disease 0.001068 4.703 1.437 ALMS1 rs6724782 2:73452863:T:A 2 73452863 T A 2:73679990 0.999195 63638 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammation of lacrimal passages (chronic) 0.000581 0.4284 0.1245 Chlocystitis 0.0005449 -0.202 0.058 ALMS1 rs6546839 2:73453381:G:C 2 73453381 G C 2:73680508 0.99927 63641 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammation of lacrimal passages (chronic) 0.000579 0.4285 0.1245 Chlocystitis 0.0005471 -0.202 0.058 ALMS1 rs3820700 2:73489683:G:A 2 73489683 G A 2:73716810 0.998727 0.154899 8926 47982 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 6.48e-06 0.1491 0.0331 Burns and corrosions 0.0006066 0.29 0.085 ALMS1 rs140223281 2:73489779:C:G 2 73489779 C G 2:73716906 0.977948 652 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of muscles 0.00146 1.8074 0.5679 ALMS1 rs2017116 2:73489976:G:C 2 73489976 G C 2:73717103 0.998525 0.154929 8930 47989 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 6.5e-06 0.149 0.0331 Burns and corrosions 0.000616 0.29 0.085 ALMS1 rs2056486 2:73490440:G:T 2 73490440 G T 2:73717567 0.99892 63591 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammation of lacrimal passages (chronic) 0.000553 0.4303 0.1246 Chlocystitis 0.0005701 -0.202 0.059 ALMS1 rs200009686 2:73490505:G:A 2 73490505 G A 2:73717632 0.975289 3017 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alstrom syndrome Other crystal arthropathies 0.000999 3.0979 0.9413 Other eating disorders 0.0006628 9.766 2.868 ALMS1 rs10193972 2:73490529:A:G 2 73490529 A G 2:73717656 0.998913 63587 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammation of lacrimal passages (chronic) 0.000552 0.4303 0.1246 Chlocystitis 0.0005672 -0.202 0.059 ALMS1 rs35062203 2:73490794:C:G 2 73490794 C G 2:73717921 0.99745 3488 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alstrom syndrome;Monogenic diabetes;not provided;not specified Other lesions of median nerve 0.000204 1.6797 0.4522 Cleft lip and cleft palate 0.0008249 100.344 30.005 ALMS1 rs11884776 2:73519796:C:T 2 73519796 C T 2:73746923 0.998592 59858 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammation of lacrimal passages (chronic) 0.000607 0.4398 0.1283 Transient ischemic attack 0.0004058 0.109 0.031 ALMS1 rs45501594 2:73572505:C:G 2 73572505 C G 2:73799632 0.953156 880 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 0.000651 2.2942 0.6729 ALMS1 rs1052161 2:73601411:G:A 2 73601411 G A 2:73828538 0.9991 84582 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Volume depletion 0.000374 -0.1901 0.0534 Pulmonary heart disease, diseases of pulmonary circulation 0.0004135 -0.065 0.018 NAT8 rs62000430 2:73641267:A:G 2 73641267 A G 2:73868394 0.895023 1568 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bell's palsy 0.00065 1.1322 0.332 Other/unspecified cytomegaloviral diseases 0.0002451 239.655 65.349 NAT8 rs78164441 2:73641545:A:T 2 73641545 A T 2:73868672 0.964635 195 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Infections with a predominantly sexual mode of transmission 0.00083 1.8531 0.5544 DGUOK rs74874677 2:73950650:A:G 2 73950650 A G 2:74177777 0.999422 0.023991 220 8594 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4;not provided;not specified Panic disorder 8.34e-05 0.4554 0.1157 Chronic hepatitis, not elsewhere classified 3.662e-05 7.66 1.856 DCTN1 rs72466496 2:74361590:G:A 2 74361590 G A 2:74588717 0.962254 240 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of the ear and mastoid process 0.000481 -0.6046 0.1732 DCTN1 rs72659383 2:74365125:C:T 2 74365125 C T 2:74592252 0.937779 191 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inflammation of lacrimal passages (chronic) 0.000125 19.0401 4.964 DCTN1 rs776489779 2:74365143:C:T 2 74365143 C T 2:74592270 0.963769 196 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of lip, oral cavity and pharynx 0.000831 23.4279 7.0098 DCTN1 rs17721059 2:74369400:C:T 2 74369400 C T 2:74596527 0.970441 2918 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic lateral sclerosis type 1;Distal hereditary motor neuronopathy;Distal hereditary motor neuronopathy type 7B;Perry syndrome;Perry syndrome;not provided;not specified Disorders of ocular muscles, binocular movement, accommodation and refraction 0.000545 -0.3759 0.1087 Other diseases of anus and rectum 0.001339 4.123 1.285 DCTN1 rs200952455 2:74370670:G:C 2 74370670 G C 2:74597797 0.905996 519 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple delivery 0.00107 3.2389 0.9903 DCTN1 rs55862001 2:74371596:T:C 2 74371596 T C 2:74598723 0.929054 0.00141268 0 519 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other noninfective disordersof lymphatic vessels and lymph nodes 9.27e-06 7.8319 1.7665 RTKN rs145310583 2:74430655:C:T 2 74430655 C T 2:74657782 0.989427 5326 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lack of expected normal physiological development 0.000356 1.4835 0.4154 Convergence insufficiency and excess 0.0003474 17.192 4.806 MOGS rs35533773 2:74461436:C:T 2 74461436 C T 2:74688563 0.972196 1000 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on diagnostic imaging of lung 0.000556 0.733 0.2123 MOGS rs114933392 2:74461772:C:T 2 74461772 C T 2:74688899 0.985697 12136 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation type 2B;not specified Pain, not elsewhere classified 0.000269 0.2746 0.0754 Maternal care for known or suspected disproportion 0.0003012 3.299 0.913 MOGS rs199939051 2:74461938:A:T 2 74461938 A T 2:74689065 0.968225 0.00731652 28 2660 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;Congenital disorder of glycosylation type 2B Systemic lupus erythematosus, unspecified 4.68e-05 2.1647 0.5317 Injuries to the abdomen, lower back, lumbar spine and pelvis 0.0005018 4.651 1.337 MOGS rs142032474 2:74461951:C:T 2 74461951 C T 2:74689078 0.964699 1762 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;Congenital disorder of glycosylation type 2B;not provided;not specified Fracture of neck 0.000366 1.9773 0.5548 Nausea and vomiting 0.000548 11.826 3.422 MOGS rs2268416 2:74462912:G:A 2 74462912 G A 2:74690039 0.991067 0.144218 7618 45366 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of urinary system 1.3e-06 0.079 0.0163 Other deformities of toe(s) 0.0005113 0.703 0.202 MOGS rs1063588 2:74463251:C:T 2 74463251 C T 2:74690378 0.991006 0.141248 7326 44567 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of urinary system 1.11e-06 0.0802 0.0165 Other deformities of toe(s) 0.0003196 0.752 0.209 MOGS rs79181168 2:74465064:C:T 2 74465064 C T 2:74692191 0.977608 14031 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation;not specified Premature separation of placenta [abruptio placentae] 0.000846 -0.7936 0.2378 Spinal enthesopathy 0.0003116 2.495 0.692 HTRA2 rs72470544 2:74530427:G:T 2 74530427 G T 2:74757554 0.988875 9544 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parkinson Disease, Dominant;Parkinson disease 13 Other diseases of liver 0.000287 0.3966 0.1094 0.0006779 1.117 0.329 LOXL3 rs17010021 2:74534412:T:A 2 74534412 T A 2:74761539 0.984843 16058 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified epidermal thickening 1e-04 0.8587 0.2207 Unspecified fall 4.29e-05 7.637 1.867 LOXL3 rs77706750 2:74536120:C:T 2 74536120 C T 2:74763247 0.989813 4978 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other diseases of spinal cord 0.000918 1.2865 0.3881 Panniculitis, unspecified 8.622e-05 33.251 8.468 LOXL3 rs146972503 2:74552556:G:C 2 74552556 G C 2:74779683 0.996234 0.00334524 8 1221 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other and unspecified vascular occlusions 6.92e-05 1.8253 0.4587 0.0005168 -2.109 0.607 DOK1 rs41295954 2:74556738:A:G 2 74556738 A G 2:74783865 0.970251 630 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Hypothyroidism, drug reimbursement 0.000263 0.9953 0.2727 Epilepsy 0.0005287 11.822 3.411 M1AP rs144217347 2:74581766:C:CA 2 74581766 C CA 2:74808893 0.942303 358 pLoF unknown Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Open wound of lower leg 0.000798 2.2869 0.682 DNAH6 rs112166113 2:84517989:C:T 2 84517989 C T 2:84745113 0.983606 2967 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinoschisis and retinal cysts 0.000125 2.5269 0.6589 Other/unspecified enthesopathies of lower limb, excluding foot 0.001214 9.534 2.946 DNAH6 rs4832089 2:84528925:G:A 2 84528925 G A 2:84756049 0.997605 0.963045 340760 13051 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of uterus and cervix 3.42e-05 -1.2781 0.3084 Congenital malformations of uterus and cervix 1.447e-05 -0.691 0.159 DNAH6 rs28375417 2:84653321:G:C 2 84653321 G C 2:84880445 0.997113 0.0771201 2272 26061 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Disorders of other endocrine glands 5.86e-05 0.143 0.0356 Toxic effects of substances chiefly nonmedicinal as to source 0.001485 0.592 0.186 DNAH6 rs17025409 2:84670377:A:G 2 84670377 A G 2:84897501 0.999066 3619 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Abnormal findings on examination of other body fluids, substances and tissues, without diagnosis 0.000398 0.3101 0.0876 Other abnormal products of conception 0.0002483 5.531 1.51 DNAH6 rs78190897 2:84697699:T:C 2 84697699 T C 2:84924823 0.99831 46397 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of heart and great arteries 0.000765 0.1777 0.0528 Diseases of peritoneum 0.0006993 0.339 0.1 DNAH6 rs1192269 2:84705712:G:A 2 84705712 G A 2:84932836 0.996424 0.0374672 544 13221 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Congenital malformations of uterus and cervix 3.95e-05 1.2604 0.3066 Persons encountering health services in other circumstances 0.000367 0.39 0.11 DNAH6 rs72832548 2:84713152:A:G 2 84713152 A G 2:84940276 0.986133 354 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcer of oesophagus 0.000187 4.3271 1.1584 DNAH6 rs72836490 2:84816062:G:A 2 84816062 G A 2:85043186 0.982497 368 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcer of oesophagus 0.000248 4.0987 1.1185 RETSAT rs76973216 2:85344310:G:A 2 85344310 G A 2:85571433 0.992997 406 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Meralgia paraesthetica 0.000515 5.4244 1.5619 ELMOD3 rs7564372 2:85363163:C:T 2 85363163 C T 2:85590286 0.992663 11068 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Polyp of the female genital tract 0.00026 0.2091 0.0572 Other disorders of eyelid 0.0008202 0.81 0.242 ELMOD3 rs955592 2:85368695:C:T 2 85368695 C T 2:85595818 0.993397 24050 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hyperfunction of pituitary gland 0.000161 -0.4362 0.1156 Benign neoplasm: Long bones of lower limb 0.0008506 1.592 0.477 ELMOD3 rs78809694 2:85369783:A:G 2 85369783 A G 2:85596906 0.996283 409 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Meralgia paraesthetica 0.00053 5.3848 1.5541 ELMOD3 rs34973107 2:85390187:G:A 2 85390187 G A 2:85617310 0.969622 693 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to housing and economic circumstances 0.00238 7.147 2.3519 GGCX rs699664 2:85553413:C:T 2 85553413 C T 2:85780536 0.999792 79709 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of uterus 0.000493 -0.1292 0.0371 Foreign body on external eye 0.001176 0.129 0.04 GGCX rs149039591 2:85558450:T:C 2 85558450 T C 2:85785573 0.982451 285 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Impotence 0.00155 5.3966 1.7054 SFTPB rs35373464 2:85665785:C:T 2 85665785 C T 2:85892908 0.992961 0.00315742 10 1150 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other symptoms and signs involving general sensations and perceptions 7.8e-05 3.3071 0.8371 Neuralgia and neuritis, unspecified 0.00352 27.746 9.508 SFTPB rs1130866 2:85666618:G:A 2 85666618 G A 2:85893741 0.960965 91534 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Conduction disorders 0.000146 0.1001 0.0263 Nonalcoholic fatty liver disease 8.033e-05 0.179 0.046 SFTPB rs2077079 2:85668215:T:G 2 85668215 T G 2:85895338 0.980854 78501 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Episodal and paroxysmal disorders 0.00068 0.0324 0.0095 Other diseases of arteries and capillaries 0.001174 0.173 0.053 ST3GAL5 rs1138484 2:85861188:T:C 2 85861188 T C 2:86088311 0.99962 70754 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of shoulder and upper arm 0.000264 -0.183 0.0502 Non-allergic asthma 0.001843 -0.13 0.042 POLR1A rs146078741 2:86089889:C:G 2 86089889 C G 2:86317012 0.987088 4548 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified disorders involving the immune mechanism, not elsewhere classified 0.000306 1.5911 0.4407 Other appendicitis 0.0007713 5.25 1.561 IMMT rs61731709 2:86151395:C:T 2 86151395 C T 2:86378518 0.994908 841 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension 0.000569 0.3605 0.1046 REEP1 rs189652973 2:86217050:C:T 2 86217050 C T 2:86444173 0.971566 374 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Arthropod-borne viral fevers and viral haemorrhagic fevers 0.00305 2.3662 0.7987 EIF2AK3 rs1805165 2:88575373:C:A 2 88575373 C A 2:88874891 0.997781 0.662452 161134 82243 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanoma in situ (other cancers excluded from controls) 7.71e-05 -0.3528 0.0893 Disorders of synovium and tendon 0.0001249 -0.044 0.012 EIF2AK3 rs35226268 2:88576576:C:T 2 88576576 C T 2:88876094 0.996393 806 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Wolcott-Rallison dysplasia;not provided Disorders of lacrimal system 0.00025 0.8757 0.2391 Dorsopathies 0 2.875 0 EIF2AK3 rs55791823 2:88583496:T:A 2 88583496 T A 2:88883014 0.990564 1347 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Monogenic diabetes;Wolcott-Rallison dysplasia;not provided Benign neoplasm: Connective and other soft tissue of head, face and neck (other cancers excluded from controls) 0.000373 3.7974 1.0672 Other bacterial diseases 0.0003075 5.473 1.517 EIF2AK3 rs13045 2:88595605:T:C 2 88595605 T C 2:88895123 0.999931 0.603202 133586 88023 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melanoma in situ 2.3e-05 -0.3634 0.0858 Benign neoplasm: Connective and other soft tissue of lower limb, including hip (other cancers excluded from controls) 8.657e-05 -0.253 0.064 EIF2AK3 rs867529 2:88613755:G:C 2 88613755 G C 2:88913273 0.997706 0.337564 41776 82241 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melanoma in situ (other cancers excluded from controls) 7.69e-05 0.3529 0.0892 Secondary malignant neoplasm of other and unspecified sites (other cancers excluded from controls) 0.0008587 0.499 0.15 EIF2AK3 rs201593811 2:88627121:C:T 2 88627121 C T 2:88926639 0.969391 3501 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monogenic diabetes;Wolcott-Rallison dysplasia;not specified Complications of surgical and medical care, not elsewhere classified 0.000805 0.216 0.0645 Carcinoma in situ of skin 0.000538 12.946 3.74 TMEM127 rs200327514 2:96253953:G:A 2 96253953 G A 2:96919691 0.897072 0.00583307 18 2125 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary Paraganglioma-Pheochromocytoma Syndromes;Hereditary cancer-predisposing syndrome Hypertension, essential 5e-05 0.283 0.0698 0.001407 54.901 17.193 SNRNP200 rs75956769 2:96277240:C:G 2 96277240 C G 2:96942978 0.992143 1225 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant;not specified Gastro-oesophageal reflux disease 0.000351 0.4686 0.1311 0.0001516 1.284 0.339 SNRNP200 rs779888644 2:96283949:C:T 2 96283949 C T 2:96949687 0.865273 546 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Dominant Disorders of gallbladder, biliary tract and pancreas 0.000642 0.5614 0.1645 Psychiatric diseases 0 3.35 0 SNRNP200 rs143529458 2:96289315:T:C 2 96289315 T C 2:96955053 0.922049 1880 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Pollen allergy 0.000277 0.7898 0.2172 0.0006572 7.767 2.28 SNRNP200 rs142729495 2:96297681:T:C 2 96297681 T C 2:96963419 0.963895 402 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinitis Pigmentosa, Dominant;not specified Ankylosing spondylitis 0.000266 2.7163 0.7449 Acquired haemolytic anaemia 0.0002837 272.24 75.002 NCAPH rs61754144 2:96354330:G:A 2 96354330 G A 2:97020068 0.960613 859 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of other internal prosthetic devices, implants and grafts 0.00142 3.5687 1.1188 Acute epiglottitis 0.0003579 200.74 56.241 ZAP70 rs145955907 2:97725153:C:T 2 97725153 C T 2:98341616 0.99156 0.0193311 176 6926 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Severe combined immunodeficiency, atypical Hypothyroidism,other/unspecified 1.83e-08 0.2429 0.0432 Fracture of forearm 0.0001038 1.248 0.321 ZAP70 rs150950017 2:97738016:A:G 2 97738016 A G 2:98354479 0.965516 253 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of eyelid, lacrimal system and orbit 0.000231 1.0314 0.2801 VWA3B rs144102300 2:98121421:G:A 2 98121421 G A 2:98737884 0.967513 966 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bronchitis, not specified as acute or chronic 0.00105 1.3662 0.4168 Crushing injury of wrist and hand 0.0002306 280.815 76.248 VWA3B rs6731704 2:98300105:T:G 2 98300105 T G 2:98916568 0.992745 0.00114593 0 421 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emotional disorders starting during childhood or adolecense (more controls excluded) 2.21e-05 6.0119 1.4172 CNGA3 rs62156348 2:98377728:C:T 2 98377728 C T 2:98994191 0.949665 2375 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Benign neoplasm: Bronchus and lung 0.000127 4.7463 1.2382 Perioral dermatitis 0.0008916 88.266 26.565 CNGA3 rs34314205 2:98389666:C:T 2 98389666 C T 2:99006129 0.961584 3422 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Atopic dermatitis, strict definition 0.000127 0.4824 0.1259 Other chronic obstructive pulmonary disease 0.0004841 3.462 0.992 CNGA3 rs148616345 2:98395910:C:T 2 98395910 C T 2:99012373 0.995457 964 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dermatitis herpetiformis 0.000552 4.2089 1.2184 INPP4A rs150565121 2:98554449:G:A 2 98554449 G A 2:99170912 0.99743 960 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other gastritis (incl. Duodenitis) 0.000742 0.9212 0.2731 MGAT4A rs61748145 2:98655513:T:C 2 98655513 T C 2:99271976 0.979576 2213 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes, wide definition 0.000549 0.3262 0.0944 Mild mental retardation 0.001073 8.744 2.673 EIF5B rs201583340 2:99361611:A:T 2 99361611 A T 2:99978074 0.97145 1735 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of lower leg 0.000644 1.5947 0.4673 Chronic hepatitis NAS 0.001389 63.336 19.811 EIF5B rs111801819 2:99376556:A:G 2 99376556 A G 2:99993019 0.854216 98 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ocular pain 0.000123 11.1166 2.8942 REV1 rs41280589 2:99402793:A:T 2 99402793 A T 2:100019256 0.970553 3841 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified inflammatory spondylopathies 0.000862 1.1151 0.3347 Persistent mood disorders 6.353e-06 5.357 1.187 NMS rs59029020 2:100470489:A:G 2 100470489 A G 2:101086951 0.994076 1867 start_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Severe diabetic background retinopathy 0.000187 2.5902 0.6934 Diabetic nephropathy (more controls excluded) 0.0003944 14.06 3.968 NPAS2 rs113107029 2:100993499:G:A 2 100993499 G A 2:101609961 0.889116 222 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Special screening examination for infectious and parasitic diseases 0.000258 1.8539 0.5074 IL1R2 rs28385682 2:102019665:G:A 2 102019665 G A 2:102636127 0.986234 2737 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other medical care 0.000452 0.6169 0.1759 Urethral stricture 6.27e-05 31.441 7.855 IL1RL1 rs111970215 2:102342258:G:A 2 102342258 G A 2:102958718 0.968054 1497 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal ulcer 0.000374 0.9548 0.2684 Anaemia in chronic diseases classified elsewhere 0.0006599 113.214 33.242 IL1RL1 rs112595294 2:102347959:A:G 2 102347959 A G 2:102964419 0.967047 1451 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal ulcer 0.000569 0.9278 0.2692 Otosclerosis 0.0006765 10.612 3.122 IL1RL1 rs138892317 2:102349148:G:A 2 102349148 G A 2:102965608 0.967569 4887 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of intra-abdominal organs 0.000158 1.6402 0.4341 0.0001191 5.211 1.354 SLC5A7 rs143876748 2:107988201:C:T 2 107988201 C T 2:108604657 0.988219 0.00205233 2 752 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other obstetric conditions, not elsewhere classified 9.47e-05 1.1563 0.2962 SLC5A7 rs1013940 2:107992192:A:G 2 107992192 A G 2:108608648 0.989464 0.117649 5212 38011 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 3.13e-05 -0.2385 0.0573 Cardiomyopathy, other and unspecified 0.001302 0.479 0.149 SLC5A7 rs142776152 2:108002012:A:G 2 108002012 A G 2:108618468 0.995502 5076 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 20, presynaptic;Neuronopathy, distal hereditary motor, type viia;not provided Burn and corrosion of wrist and hand 0.00139 1.1034 0.3451 Sixth [abducent] nerve palsy 0.0006138 13.596 3.969 SULT1C3 rs112050262 2:108247302:G:A 2 108247302 G A 2:108863758 0.999971 11280 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Complications of the puerperium, not elsewhere classified 0.000369 0.723 0.203 Hodgkin lymphoma 0.0006675 5.649 1.66 GCC2 rs61733788 2:108471107:C:G 2 108471107 C G 2:109087563 0.982775 0.00494572 18 1799 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholesteatoma of middle ear 5.84e-05 1.8824 0.4684 Convulsions, not elsewhere classified 0.0002232 7.127 1.931 LIMS1 rs150889011 2:108680724:G:A 2 108680724 G A 2:109297180 0.997204 0.0224694 228 8027 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral hepatitis 2.59e-05 0.7119 0.1692 Melignant neoplasm of mesothelium and soft tissue (other cancers excluded from controls) 0.0006122 5.759 1.681 RANBP2 rs76352345 2:108740522:G:C 2 108740522 G C 2:109356978 0.996163 10815 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified Ulcerative colitis, NAS 0.00042 -0.3721 0.1055 Chronic lower respiratory diseases 0.001576 -0.344 0.109 RANBP2 rs61758802 2:108755041:C:T 2 108755041 C T 2:109371497 0.96569 0.000849238 0 312 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other hammer toe(s) (acquired) 2.5e-05 2.5965 0.6161 RANBP2 rs187011794 2:108755198:G:A 2 108755198 G A 2:109371654 0.907719 225 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 0.000185 20.21 5.4063 RANBP2 rs141230513 2:108763701:G:T 2 108763701 G T 2:109380157 0.976487 0.00197611 4 722 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility 3.16e-05 1.1044 0.2654 Ovarian cyst 0.0001773 3.097 0.826 RANBP2 rs140860785 2:108763702:C:T 2 108763702 C T 2:109380158 0.973634 0.00184818 4 675 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility 1.06e-05 1.2137 0.2756 Ovarian cyst 0.0001773 3.097 0.826 RANBP2 rs148677577 2:108765299:G:T 2 108765299 G T 2:109381755 0.99636 0.0114702 54 4160 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Encephalopathy, acute, infection-induced, 3, suceptibility to Cramp and spasm 4.21e-05 1.5063 0.3678 Complications of genitourinary prosthetic devices, implants and grafts 0.0001501 25.648 6.766 RANBP2 rs61748150 2:108766480:T:A 2 108766480 T A 2:109382936 0.986092 5742 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Encephalopathy, acute, infection-induced, 3, suceptibility to;not specified Other symptoms and signs involving the urinary system 0.000916 0.6954 0.2098 Iron deficiency anaemia secondary to blood loss (chronic) 0.0005968 3.501 1.02 RANBP2 rs189289937 2:108768002:T:C 2 108768002 T C 2:109384458 0.965772 557 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Burn and corrosion of trunk 0.000626 5.246 1.5339 RANBP2 rs138022657 2:108768290:A:G 2 108768290 A G 2:109384746 0.9267 198 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormalities of breathing 0.00139 0.8462 0.2648 RANBP2 rs145886643 2:108768293:T:C 2 108768293 T C 2:109384749 0.900721 261 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transport accidents 0.000889 10.1686 3.0596 RANBP2 rs61758804 2:108775846:A:G 2 108775846 A G 2:109392302 0.996523 1673 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Encephalopathy, acute, infection-induced, 3, suceptibility to;not provided;not specified Malignant neoplasm of vulva 0.0013 4.3014 1.3373 Arthropathy in ulcerative colitis 0.001087 77.735 23.795 EDAR rs3827760 2:108897145:A:G 2 108897145 A G 2:109513601 0.989061 18958 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hair morphology 1, hair thickness;Hypohidrotic Ectodermal Dysplasia, Dominant;not specified Otherdisorders of bone 0.000322 0.2205 0.0613 Other and unspecidied mood [affective] disorders 3.427e-05 1.812 0.437 EDAR rs260630 2:108910917:A:G 2 108910917 A G 2:109527373 0.998827 33363 missense_variant both Uncertain significance VUS no assertion criteria provided no_Criteria Other diseases of the digestive system 0.000112 -0.1541 0.0399 Other diseases of the digestive system 0.0002953 -0.078 0.022 NPHP1 rs33958626 2:110201449:G:T 2 110201449 G T 2:110959026 0.971171 16352 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Nephronophthisis;Renal dysplasia and retinal aplasia;not specified Undefined dementia 0.00295 -0.2854 0.096 0.0009038 0.942 0.284 BUB1 rs61730706 2:110667649:G:A 2 110667649 G A 2:111425226 0.991126 1213 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rheumatic fever incl heart disease 0.000541 2.3867 0.6899 Neuralgia and neuritis, unspecified 0.001459 58.908 18.509 ANAPC1 rs147457004 2:111831398:G:A 2 111831398 G A 2:112588975 0.947494 1330 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammation of lacrimal passages (acute and unspecified) 0.00129 3.6929 1.1479 Abnormal spermatozoa 8.543e-05 20.468 5.21 MERTK rs35898499 2:111898795:A:T 2 111898795 A T 2:112656372 0.986797 10286 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not provided;not specified Other coagulation defects 0.00114 0.5541 0.1703 Coronary artery bypass grafting 0.0007193 1.383 0.409 MERTK rs13027171 2:111929411:G:A 2 111929411 G A 2:112686988 0.996835 0.210916 16478 61010 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins 1.28e-06 -0.086 0.0178 1.526e-05 0.268 0.062 MERTK rs34072093 2:111968170:G:A 2 111968170 G A 2:112725747 0.974421 7954 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Diabetes-related co-morbidities/complications (more controls excluded) 0.0014 -0.1065 0.0333 Toxic effect of ethanol 0.001053 4.765 1.454 MERTK rs142985827 2:111982958:C:T 2 111982958 C T 2:112740535 0.978387 1271 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not provided Giant cell arteritis with polymyalgia rheumatica 0.00059 2.9883 0.8697 Benign neoplasm: Skin of scalp and neck (other cancers excluded from controls) 0.0008117 97.466 29.105 MERTK rs7604639 2:111994351:G:A 2 111994351 G A 2:112751928 0.999968 81184 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes 0.0012 0.0785 0.0242 Diabetic maculopathy 0.001674 0.087 0.028 MERTK rs2230515 2:111997424:A:G 2 111997424 A G 2:112755001 0.998874 81169 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes 0.00141 0.0774 0.0243 Diabetic maculopathy 0.001636 0.087 0.028 MERTK rs2230516 2:112028457:C:T 2 112028457 C T 2:112786034 0.997179 2205 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Conjunctivitis 0.000184 0.3382 0.0904 Other disorders of the genitourinary system 0.000438 13.851 3.939 MERTK rs2230517 2:112028472:G:A 2 112028472 G A 2:112786049 0.995088 21015 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not provided;not specified Varicose veins 0.000217 0.1115 0.0301 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.001609 0.204 0.065 RGPD8 rs13021601 2:112433433:A:C 2 112433433 A C 2:113191010 0.990263 50117 start_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperfunction of pituitary gland 0.000557 0.2782 0.0806 Other assisted single delivery 0.000418 1.13 0.32 TTL rs61733584 2:112494303:G:A 2 112494303 G A 2:113251880 0.950681 2484 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine, single triptan purchase ok & required. ICD-code if available is included 0.0013 0.3268 0.1016 Oesophagitis 0.0007834 11.595 3.452 CKAP2L rs76036957 2:112738876:G:A 2 112738876 G A 2:113496453 0.992795 2125 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Palindromic rheumatism 0.000515 4.3214 1.2443 Premature rupture of membranes 0.0002364 15.552 4.23 CKAP2L rs116342308 2:112738977:C:T 2 112738977 C T 2:113496554 0.998077 6206 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of thyroid, IBD co-morbidities 0.000799 0.3268 0.0975 0.001124 2.991 0.918 IL37 rs3811047 2:112913833:A:G 2 112913833 A G 2:113671410 0.995922 75466 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of ankle and foot 0.000105 -0.3259 0.084 Other and unspecified injuries of ankle and foot 0.0001679 -0.203 0.054 IL37 rs28947200 2:112918606:C:T 2 112918606 C T 2:113676183 0.991531 0.003005 6 1098 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of eye and orbit 7.46e-05 1.3597 0.3433 Erythema nodosum 0.0005142 143.335 41.268 IL36B rs199600636 2:113026101:A:G 2 113026101 A G 2:113783678 0.931637 168 pLoF unknown Uncertain significance VUS no assertion criteria provided no_Criteria Interstitial lung disease endpoints 0.000203 1.2044 0.3242 IL36RN rs187015338 2:113060926:A:G 2 113060926 A G 2:113818503 0.960707 319 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Injury of intra-abdominal organs 0.000604 7.935 2.3135 IL36RN rs28938777 2:113062148:A:G 2 113062148 A G 2:113819725 0.950588 369 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Calculus of kidney and ureter 0.000479 1.4802 0.4238 IL36RN rs144478519 2:113062547:C:T 2 113062547 C T 2:113820124 0.996482 2140 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Pustular psoriasis, generalized;not provided Cardiomyopathy, Hypertrophic obstructive 0.00041 2.3983 0.6787 Otherand unspecified haemorrhagic conditions 0.0009112 91.096 27.467 PAX8 rs149585280 2:113227140:C:T 2 113227140 C T 2:113984717 0.812362 222 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Nonorganic sleeping disorders (more controls excluded) 0.00217 2.9844 0.9735 PAX8 rs3188996 2:113235496:A:G 2 113235496 A G 2:113993073 0.987321 5723 missense_variant dominant Benign (likely)Benign no assertion criteria provided no_Criteria PAX8 POLYMORPHISM ILD-related co-morbidities 0.00238 -0.0898 0.0296 Benign neoplasm: Duodenum 0.0007177 12.479 3.689 PAX8 rs190431939 2:113242764:T:C 2 113242764 T C 2:114000341 0.998736 2458 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rheumatoid arthritis 0.000199 0.5004 0.1345 Alzheimer's disease (Early onset) 3.441e-05 48.659 11.747 DDX18 rs61748152 2:117821194:G:A 2 117821194 G A 2:118578770 0.992024 4983 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic polyneuropathy 0.0011 1.307 0.4006 Non-allergic asthma 3.567e-05 7.075 1.712 DDX18 rs61755349 2:117824613:G:A 2 117824613 G A 2:118582189 0.991938 4977 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic polyneuropathy 0.00108 1.3118 0.4013 Symptoms and signs involving the circulatory and respiratory systems 2.411e-05 1.177 0.279 STEAP3 rs142093432 2:119247833:C:T 2 119247833 C T 2:120005409 0.981487 1215 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of arteries and capillaries 0.000331 1.4913 0.4155 Mood disorders (more controls excluded) 8.503e-05 4.167 1.06 STEAP3 rs41279768 2:119254829:G:A 2 119254829 G A 2:120012405 0.989192 391 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unstable angina pectoris 0.00026 1.4006 0.3835 SCTR rs140893531 2:119452057:C:T 2 119452057 C T 2:120209633 0.936057 276 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular pucker 0.000117 4.7262 1.2267 EPB41L5 rs145974590 2:120100775:T:TTCCACAGAGTCC 2 120100775 T TTCCACAGAGTCC 2:120858351 0.983484 2862 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of shoulder and upper arm 0.00123 0.8354 0.2584 0.0005579 -6.139 1.779 EPB41L5 rs115833267 2:120164909:A:T 2 120164909 A T 2:120922485 0.987597 5354 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Severe non-proliferative background diabetic retinopathy 0.000285 1.2533 0.3454 Invasive ventilation 0.001961 7.41 2.393 GLI2 rs199671413 2:120951279:C:T 2 120951279 C T 2:121708855 0.954488 0.00725936 26 2641 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic hepatitis NAS 9.71e-05 3.2112 0.8239 Benign neoplasm: Pituitary gland, craniopharyngeal duct 7.158e-05 33.371 8.404 GLI2 rs771675078 2:120968731:C:T 2 120968731 C T 2:121726307 0.928795 174 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Inflammation of lacrimal passages (acute and unspecified) 0.000251 15.5853 4.2567 GLI2 rs142793481 2:120968790:C:T 2 120968790 C T 2:121726366 0.965898 7009 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Holoprosencephaly sequence;not provided;not specified Chronic mastoiditis 0.00164 0.9225 0.2929 Other and unspecified mononeuropathies of upper limb 0.004515 5.18 1.824 GLI2 rs2592595 2:120968871:G:A 2 120968871 G A 2:121726447 0.996103 0.994513 363370 2002 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Delirium, not induced by alcohol and other psychoactive substances 8.14e-05 -1.3916 0.3532 Delirium, not induced by alcohol and other psychoactive substances 7.091e-05 -0.706 0.178 GLI2 rs3738880 2:120989380:G:T 2 120989380 G T 2:121746956 0.997761 80765 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter conjunctival haemorrhage 0.000266 0.2272 0.0623 Other crystal arthropathies 5.667e-05 0.382 0.095 GLI2 rs12711538 2:120989830:G:A 2 120989830 G A 2:121747406 0.997798 80769 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter conjunctival haemorrhage 0.000253 0.228 0.0623 Other crystal arthropathies 5.645e-05 0.382 0.095 GLI2 rs114376238 2:120989857:C:T 2 120989857 C T 2:121747433 0.984688 3314 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Culler-Jones syndrome;Holoprosencephaly 9;Holoprosencephaly sequence;not provided;not specified Shoulder lesions 0.00147 -0.2255 0.0709 Cervical root disorders 0.0006059 125.839 36.699 GLI2 rs149140724 2:120989968:A:G 2 120989968 A G 2:121747544 0.948368 1556 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Culler-Jones syndrome;Holoprosencephaly 9;Holoprosencephaly sequence;not specified Multiple delivery 0.00105 1.6059 0.4899 Other appendicitis 0.0008591 98.572 29.575 GLI2 rs146467786 2:120990246:G:A 2 120990246 G A 2:121747822 0.997457 3071 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Holoprosencephaly sequence;not provided;not specified Acute tubulo-interstitial nephritis 0.000135 0.3308 0.0867 Burn and corrosion confined to eye and adnexa 8.419e-05 33.561 8.535 GLI2 rs146207623 2:120990247:C:T 2 120990247 C T 2:121747823 0.996792 3061 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Holoprosencephaly sequence;not provided;not specified Acute tubulo-interstitial nephritis 0.000165 0.3263 0.0866 Burn and corrosion confined to eye and adnexa 8.425e-05 33.547 8.532 GLI2 rs114814747 2:120990472:G:A 2 120990472 G A 2:121748048 0.948652 1555 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Culler-Jones syndrome;Holoprosencephaly 9;Holoprosencephaly 9;Holoprosencephaly sequence;not specified Multiple delivery 0.000994 1.6201 0.4921 Other appendicitis 0.0008593 98.644 29.596 CLASP1 rs186502681 2:121418699:A:G 2 121418699 A G 2:122176275 0.969762 181 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Respiratory disorders in diseases classified elsewhere 0.000951 22.1693 6.7087 NIFK rs561007941 2:121727863:T:TGA 2 121727863 T TGA 2:122485439 0.993371 1186 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes, insuline treatment (Kela reimbursement) (more controls excluded) 0.000384 0.3585 0.101 CNTNAP5 rs35085748 2:124747304:T:C 2 124747304 T C 2:125504881 0.923371 1280 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis of hip 0.000127 4.6728 1.2192 0.0006489 -1.543 0.452 BIN1 rs138047593 2:127050470:T:C 2 127050470 T C 2:127808046 0.924926 5327 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive centronuclear myopathy;not specified Stenosis and insufficiency of lacrimal passages 0.000913 0.624 0.1882 Duodenal ulcer 0.00176 3.872 1.238 BIN1 rs112318500 2:127050500:G:A 2 127050500 G A 2:127808076 0.898079 81 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other congenital malformations of tongue, mouth and pharynx 0.000824 18.8168 5.6262 BIN1 rs200580275 2:127051230:G:A 2 127051230 G A 2:127808806 0.991638 885 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postpartum haemorrhage 0.000428 1.1494 0.3264 ERCC3 rs4150521 2:127259402:G:A 2 127259402 G A 2:128016978 0.993938 3327 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Varicose veins 0.000636 0.261 0.0764 Follow-up examination after treatment for conditions other than malignant neoplasms 0.0006791 2.738 0.806 ERCC3 rs145201970 2:127288840:G:A 2 127288840 G A 2:128046416 0.985922 0.00086557 6 312 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Trichothiodystrophy 2, photosensitive;Xeroderma pigmentosum, complementation group b;not specified Injury of muscle and tendon at ankle and foot level 3.19e-05 11.2534 2.7058 Other diseases of upper respiratory tract 0 2.002 0 LIMS2 rs148420126 2:127642104:C:T 2 127642104 C T 2:128399679 0.977213 131 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other contact dermatitis 0.000198 6.8124 1.8303 LIMS2 rs145123078 2:127643047:G:A 2 127643047 G A 2:128400622 0.986186 4345 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Muscular dystrophy, limb-girdle, type 2W;not specified Fever of other and unknown origin 0.00338 -0.2363 0.0806 Other keratitis 0.003492 5.79 1.982 AMMECR1L rs146751577 2:127873991:C:G 2 127873991 C G 2:128631565 0.990237 0.0116362 54 4221 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of sciatic nerve 8.67e-05 1.1401 0.2905 Sacrococcygeal disorders, not elsewhere classified 0.0002068 22.044 5.941 GPR39 rs61735719 2:132645376:G:A 2 132645376 G A 2:133402949 0.981001 810 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Pathological/recurrent dislocation and subluxation of joint, not elsewhere classified 0.000306 1.9166 0.5309 Other and unspecidied mood [affective] disorders 0.002924 30.982 10.412 NCKAP5 rs72847214 2:132783141:G:A 2 132783141 G A 2:133540714 0.979236 1709 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Status post-ami 0.000368 1.2185 0.3421 Hypertension 0 2.059 0 NCKAP5 rs61746268 2:132785418:G:A 2 132785418 G A 2:133542991 0.928293 845 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of eye, ear, face and neck 0.00435 1.7165 0.6019 Cervical disc disorders 1.522e-05 6.658 1.539 RAB3GAP1 rs200250746 2:135113161:C:T 2 135113161 C T 2:135870731 0.97788 420 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Non-ischemic cardiomyopathy 0.000983 -0.7966 0.2417 Stenosis and insufficiency of lacrimal passages 0.0008254 93.764 28.038 RAB3GAP1 rs116775947 2:135126596:A:G 2 135126596 A G 2:135884166 0.997878 1081 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Pancreas 0.000164 7.2472 1.9232 RAB3GAP1 rs150478342 2:135130027:C:T 2 135130027 C T 2:135887597 0.996803 2446 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Warburg micro syndrome;not provided;not specified Primary open-angle glaucoma 0.000402 0.5765 0.1629 Benign neoplasm: Rectum 0.0004256 14.289 4.055 RAB3GAP1 rs10445686 2:135135802:A:G 2 135135802 A G 2:135893372 0.998877 0.153386 8822 47530 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lactose intolerance 4.39e-07 0.5463 0.1081 Lactose intolerance 1.152e-05 0.887 0.202 LCT rs2322659 2:135798089:T:C 2 135798089 T C 2:136555659 0.999886 0.7305 196510 71867 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lactose intolerance 1.5e-21 -0.8782 0.0921 Lactose intolerance 3.693e-11 -0.36 0.054 LCT rs148838160 2:135809006:T:C 2 135809006 T C 2:136566576 0.99467 2324 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital lactase deficiency;Lactose intolerance Cervicocranial syndrome 0.000282 -1.0486 0.2888 Malignant neoplasm of testis 0.001092 78.329 23.985 LCT rs146467199 2:135809061:C:T 2 135809061 C T 2:136566631 0.986737 400 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations of circulatory system 0.000741 6.8077 2.0178 LCT rs3754689 2:135833176:C:T 2 135833176 C T 2:136590746 0.99993 0.147098 8224 45818 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lactose intolerance 1.16e-06 0.5333 0.1097 Circumscribed brain atrophy 0.0008227 1.002 0.3 DARS rs149170955 2:135933930:G:A 2 135933930 G A 2:136691500 0.991006 2282 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diabetic retinopathy 0.000661 1.1934 0.3504 Acute appendicitis, with complications 0.0003049 6.691 1.853 DARS rs11548872 2:135985510:G:C 2 135985510 G C 2:136743080 0.811368 196 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other renal tubulo-interstitial diseases 0.000415 13.4589 3.8122 CXCR4 rs199535487 2:136115417:C:T 2 136115417 C T 2:136872987 0.961283 765 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.000457 -0.5198 0.1483 5.784e-07 3.565 0.713 HNMT rs11558538 2:138002079:C:T 2 138002079 C T 2:138759649 0.998764 0.154891 8994 47911 missense_variant both risk factor risk factor no assertion criteria provided no_Criteria Other gastritis (incl. Duodenitis) 9.18e-05 -0.1413 0.0361 Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs 0.00052 0.403 0.116 HNMT rs528223406 2:138002090:G:A 2 138002090 G A 2:138759660 0.991699 278 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders related to length of gestation and fetal growth 0.000146 9.0293 2.3776 LRP1B rs149644677 2:140274452:T:A 2 140274452 T A 2:141032021 0.963935 2071 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pervasive developmental disorders excl. Autism + Asperger 0.00158 4.0747 1.2893 Diabetic maculopathy (more controls excluded) 5.567e-05 35.406 8.785 LRP1B rs79879036 2:140334515:T:G 2 140334515 T G 2:141092084 0.989119 478 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD-related respiratory insufficiency 0.000287 1.1282 0.3111 Nerve, nerve root and plexus disorders 0 5.537 0 LRP1B rs150879175 2:140358851:C:T 2 140358851 C T 2:141116420 0.966063 2177 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of forearm 0.00111 1.0611 0.3253 Diabetic maculopathy (more controls excluded) 5.579e-05 35.383 8.78 LRP1B rs146867394 2:140541066:C:T 2 140541066 C T 2:141298635 0.92151 1141 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute pharyngitis 0.00164 1.0863 0.345 Diabetes, opthalmic co-morbidities 0.003096 115.913 39.186 LRP1B rs145744070 2:140700613:C:A 2 140700613 C A 2:141458182 0.987277 0.000460004 4 165 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Focal epilepsy 2.34e-05 8.4731 2.0034 Hernia of abodminal wall 0 6.449 0 LRP1B rs144752289 2:140769236:G:A 2 140769236 G A 2:141526805 0.997339 1487 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified nonorganic psychotic disorders 0.000196 0.9411 0.2527 Urolithiasis 0.0009035 8.548 2.576 LRP1B rs141827692 2:140950243:G:C 2 140950243 G C 2:141707812 0.968754 0.00647272 32 2346 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Exfoliative dermatitis 7.68e-05 4.3938 1.1112 Benign neoplasm: Spinal cord (other cancers excluded from controls) 0.00227 42.259 13.844 LRP1B rs75995642 2:141015881:T:C 2 141015881 T C 2:141773450 0.939976 784 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute alcohol intoxication 0.000356 1.3536 0.3791 0 4.714 0 LRP1B rs77234491 2:141019985:C:T 2 141019985 C T 2:141777554 0.980802 825 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the ear and mastoid process 0.000532 -0.3205 0.0925 Sixth [abducent] nerve palsy 0.001362 62.507 19.518 ZEB2 rs112005830 2:144398957:T:C 2 144398957 T C 2:145156524 0.997011 1407 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Mowat-Wilson syndrome;not provided;not specified Specific development disorders of speech and language 0.000988 1.7862 0.5423 Short Achilles tendon (acquired) 0.0002925 229.879 63.47 ZEB2 rs112581563 2:144399046:G:A 2 144399046 G A 2:145156613 0.992847 3577 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Mowat-Wilson syndrome;not provided;not specified Pollen allergy 0.000567 0.5359 0.1555 Siatica+with lumbago 0.0003548 2.637 0.738 ORC4 rs75002266 2:147939241:G:A 2 147939241 G A 2:148696810 0.825341 109 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Postprocedural musculoskeletal disorders, not elsewhere classified 0.000149 10.4867 2.7648 ORC4 rs61750441 2:147958332:A:G 2 147958332 A G 2:148715901 0.976512 252 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic diffuse goitre 0.000356 8.3065 2.326 ORC4 rs2307394 2:147958859:T:C 2 147958859 T C 2:148716428 0.998801 81977 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cauda equina syndrome 0.000229 0.5259 0.1427 Intrahepatic Cholestasis of Pregnancy (ICP) 0.0001543 0.226 0.06 ORC4 rs2307397 2:147972798:G:C 2 147972798 G C 2:148730367 0.999441 8118 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Retinal vein occlusion (central or branch) 0.00017 1.1646 0.3097 Other disorders of ear 0.0001247 0.706 0.184 MBD5 rs139964770 2:148469325:G:A 2 148469325 G A 2:149226894 0.850274 117 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fracture of femur 0.00083 2.9871 0.8937 MBD5 rs114314967 2:148469973:G:A 2 148469973 G A 2:149227542 0.893824 118 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myositis 0.000576 16.148 4.6906 MBD5 rs116207524 2:148483196:G:A 2 148483196 G A 2:149240765 0.982789 241 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Delirium, not induced by alcohol and other psychoactive substances 0.00024 5.2225 1.4219 MBD5 rs72861124 2:148483494:C:A 2 148483494 C A 2:149241063 0.960001 6738 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and/or unspecified nontoxic goitre 0.000128 0.6835 0.1784 Melanoma in situ 0.001621 8.286 2.629 MBD5 rs143028540 2:148485940:A:G 2 148485940 A G 2:149243509 0.988378 312 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dry age-related macular degeneration (includes geographic atrophy) 0.000395 2.4681 0.6966 MMADHC rs141093638 2:149571135:G:C 2 149571135 G C 2:150427649 0.990495 2494 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Methylmalonic acidemia with homocystinuria cblD;not specified Maltreatment syndromes 0.000253 1.6338 0.4465 Congenital malformations of great arteries 0.0002213 8.544 2.313 MMADHC rs147370143 2:149575742:A:G 2 149575742 A G 2:150432256 0.976554 953 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of Intracellular Cobalamin Metabolism;Methylmalonic acidemia;Methylmalonic acidemia with homocystinuria cblD;not provided Polyp of the female genital tract 0.00168 0.5934 0.1889 Malignant neoplasm of small intestine (other cancers excluded from controls) 0.0001989 333.859 89.737 MMADHC rs61750442 2:149582194:T:G 2 149582194 T G 2:150438708 0.996491 0.0178694 110 6455 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of Intracellular Cobalamin Metabolism;Methylmalonic acidemia;Methylmalonic acidemia with homocystinuria cblD;not provided;not specified Persons encountering health services for specific procedures and health care 6.61e-05 -0.1662 0.0417 Adverse effects, not elsewhere classified 0.0001098 3.819 0.987 NMI rs150664393 2:151270705:G:T 2 151270705 G T 2:152127219 0.986513 278 LC unknown not provided not_provided no assertion provided none Benign lipomatous neoplasm 0.00264 1.389 0.4619 RIF1 rs148193753 2:151463241:A:G 2 151463241 A G 2:152319755 0.944073 244 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm 0.00118 -0.6048 0.1864 Other bursitis of knee 0.0006433 187.595 54.97 NEB rs1061305 2:151490465:T:C 2 151490465 T C 2:152346979 0.999918 87450 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary parkinsonism (more controls excluded) 0.000504 -0.3468 0.0997 Polymyalgia rheumatica 0.0002199 0.158 0.043 NEB rs7575451 2:151496329:C:G 2 151496329 C G 2:152352843 0.999409 80068 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Duodenal ulcer 0.000658 0.1442 0.0423 Superficial injury of shoulder and upper arm 0.0004286 0.11 0.031 NEB rs549794342 2:151501423:G:A 2 151501423 G A 2:152357937 0.990108 386 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Synovial hypertrophy, not elsewhere classified 0.00087 10.5263 3.1616 NEB rs41270201 2:151508075:G:A 2 151508075 G A 2:152364589 0.99422 9725 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not specified Habit and impulse disorders 0.00145 1.0315 0.3238 Respiratory conditions due to other external agents 5.699e-05 12.678 3.15 NEB rs201189784 2:151512801:T:C 2 151512801 T C 2:152369315 0.98989 261 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Heterophoria 0.000118 5.0188 1.3033 NEB rs202050860 2:151524358:G:A 2 151524358 G A 2:152380872 0.975281 174 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the shoulder and upper arm 0.000385 1.1479 0.3234 NEB rs761232641 2:151525975:T:G 2 151525975 T G 2:152382489 0.862063 70 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Congenital malformations of heart and great arteries 0.00114 6.0037 1.8448 NEB rs192402741 2:151525997:G:C 2 151525997 G C 2:152382511 0.985742 550 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic sinusitis 0.000629 0.8595 0.2514 NEB rs35625617 2:151527007:C:T 2 151527007 C T 2:152383521 0.997182 16589 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not specified Diverticular disease of intestine 0.00108 -0.1182 0.0361 Postprocedural disorders of digestive system, not elsewhere classified 0.0002973 3.112 0.86 NEB rs201979610 2:151529260:C:G 2 151529260 C G 2:152385774 0.989724 314 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Atypical mycobacterium lung infection 0.000189 17.4091 4.6635 NEB rs200523155 2:151537166:G:A 2 151537166 G A 2:152393680 0.987831 312 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Maternal care for other conditions predominantly related to pregnancy 0.000287 2.0192 0.5568 NEB rs62167164 2:151537930:G:C 2 151537930 G C 2:152394444 0.995854 7683 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not specified Hyphaema and other vascular disorders of iris and ciliary body 0.000148 1.6742 0.4412 Asthma, hospital admissions , main diagnosis only 0.0004704 0.778 0.222 NEB rs182866658 2:151541458:G:A 2 151541458 G A 2:152397972 0.999299 2119 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nemaline myopathy 2;not provided Death due to cardiac causes 0.00113 -0.4437 0.1363 Hirsutism 0.001332 66.217 20.635 NEB rs202139330 2:151548367:G:T 2 151548367 G T 2:152404881 0.993106 400 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Allergic urticaria 0.000625 2.9291 0.8564 NEB rs35707762 2:151548387:G:A 2 151548387 G A 2:152404901 0.985316 642 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other benign neoplasms of connective and other soft tissue (other cancers excluded from controls) 0.000297 2.197 0.6073 NEB rs34504204 2:151565084:T:C 2 151565084 T C 2:152421598 0.995186 401 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of lacrimal system and orbit in diseases classified elsewhere 0.000137 7.5121 1.9696 NEB rs2288210 2:151565562:C:G 2 151565562 C G 2:152422076 0.999781 77381 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Radiculopathy 0.000686 0.1119 0.033 Viral pneumonia (known virus, not influenza) 0.001856 -0.147 0.047 NEB rs113439353 2:151579373:T:C 2 151579373 T C 2:152435887 0.968746 4826 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other enthesopathies 0.000397 -0.3417 0.0965 0.0007431 -0.847 0.251 NEB rs202017360 2:151603751:C:T 2 151603751 C T 2:152460265 0.936534 1551 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nemaline myopathy 2;not specified Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.000405 -0.3106 0.0878 In situ neoplasms 0.002348 6.518 2.142 NEB rs35740585 2:151612262:T:C 2 151612262 T C 2:152468776 0.991975 10244 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline myopathy 2;not specified Persons with potential health hazards related to communicable diseases 0.000805 0.3861 0.1152 Other shoulder lesions 4.303e-05 3.557 0.87 NEB rs149025191 2:151617397:C:G 2 151617397 C G 2:152473911 0.980067 10493 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not specified Fracture of lumbar spine and pelvis 0.000578 -0.3177 0.0923 Myeloproliferative diseases (CML excluded) 0.001296 3.341 1.038 NEB rs10172023 2:151619514:C:G 2 151619514 C G 2:152476028 0.999446 0.336976 42044 81757 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diffuse large B-cell lymphoma (other cancers excluded from controls) 4.17e-05 0.4682 0.1142 Otitis externa, unspecified 0.0003472 0.186 0.052 NEB rs201596787 2:151627091:G:A 2 151627091 G A 2:152483605 0.900774 284 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Asthma, unspecified (mode) 0.000949 1.111 0.3361 NEB rs199847072 2:151627148:A:T 2 151627148 A T 2:152483662 0.909217 131 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Sicca syndrome [Sjogren] 0.000425 5.8564 1.6618 NEB rs75639119 2:151627801:C:T 2 151627801 C T 2:152484315 0.992107 0.0190398 112 6883 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not specified Benign neoplasm: Oesophagus (other cancers excluded from controls) 3.36e-05 2.5463 0.6139 Cardiovascular diseases 0.0001609 0.624 0.165 NEB rs145770770 2:151631294:A:T 2 151631294 A T 2:152487808 0.961378 0.00606171 14 2213 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline myopathy 2;not provided;not specified Malignant neoplasm of testis (other cancers excluded from controls) 3.3e-05 3.8953 0.9383 Family history of certain disabilities and chronic diseases leading to disablement 0.001841 59.559 19.121 NEB rs193042896 2:151633722:C:T 2 151633722 C T 2:152490236 0.979938 591 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline myopathy 2;not specified Non-allergic asthma (mode) (more controls excluded) 0.00167 1.2335 0.3923 Other diseases of pancreas 0.0008421 97.926 29.332 NEB rs538524863 2:151633890:T:C 2 151633890 T C 2:152490404 0.992924 336 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified iridocyclitis 0.000535 7.4732 2.1583 NEB rs6710212 2:151633944:A:G 2 151633944 A G 2:152490458 0.813982 110 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of breast 0.000583 -5.5763 1.6213 0.000207 -1.462 0.394 NEB rs143933602 2:151636258:G:A 2 151636258 G A 2:152492772 0.863606 111 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Tongue 0.00306 12.6408 4.2686 NEB rs368373064 2:151640008:A:G 2 151640008 A G 2:152496522 0.995626 144 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Abscess of anal and rectal regions 0.000862 4.7174 1.4158 NEB rs6713162 2:151640012:A:G 2 151640012 A G 2:152496526 0.99863 44025 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormal findings of blood chemistry 0.000261 -0.4984 0.1365 Other and unspecified injuries of lower leg 0.0007424 0.529 0.157 NEB rs200729207 2:151640396:C:T 2 151640396 C T 2:152496910 0.967968 160 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified mononeuropathies of upper limb 0.00117 9.2029 2.8355 NEB rs35974308 2:151642629:C:T 2 151642629 C T 2:152499143 0.994587 5969 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not provided;not specified Abscess of external ear 0.000276 1.7042 0.4686 Benign neoplasm: Stomach (other cancers excluded from controls) 0.0001214 5.357 1.394 NEB rs76767949 2:151642841:T:C 2 151642841 T C 2:152499355 0.999067 0.0089415 34 3251 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not provided;not specified Endocrine, nutritional and metabolic diseases 2.21e-05 0.1815 0.0428 Other specified disorders of muscle 7.934e-05 33.786 8.561 NEB rs13013209 2:151643935:C:G 2 151643935 C G 2:152500449 0.965822 90564 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Symptoms and signs involving speech and voice 0.00066 -0.0814 0.0239 Fall on same level 0.00029 -0.231 0.064 NEB rs61730780 2:151650297:C:T 2 151650297 C T 2:152506811 0.995999 1461 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not specified Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 0.00102 3.6651 1.116 Vulvovaginal ulceration/inflammation in other diseases 0.001461 54.547 17.141 NEB rs141155976 2:151650675:C:G 2 151650675 C G 2:152507189 0.98091 0.00106155 0 390 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mental and behavioural disorders due to use of other stimulants, including caffeine 9.27e-05 7.7364 1.9792 NEB rs199700878 2:151654090:T:C 2 151654090 T C 2:152510604 0.973167 385 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diabetes, insuline treatment (Kela reimbursement) 0.000653 0.6009 0.1763 NEB rs184262608 2:151659071:C:T 2 151659071 C T 2:152515585 0.981072 0.00750705 28 2730 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline myopathy 2;not specified Other bursopathies 9.06e-05 0.8768 0.224 Superficial injury of hip and thigh 0.001341 8.869 2.766 NEB rs75807392 2:151659169:G:A 2 151659169 G A 2:152515683 0.999351 29998 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline Myopathy, Recessive;not specified Residual foreign body in soft tissue 0.000149 0.4127 0.1088 Injury of other and unspecified intrathoracic organs 0.003382 0.704 0.24 NEB rs141930814 2:151663744:C:T 2 151663744 C T 2:152520258 0.989012 4441 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline myopathy 2;not provided;not specified Hypermobility syndrome 0.000197 1.0847 0.2914 Synovial cyst of popliteal space [Baker] 2.878e-06 13.196 2.82 NEB rs144180493 2:151663756:A:C 2 151663756 A C 2:152520270 0.957663 389 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Postprocedural disorders of digestive system, not elsewhere classified 0.00147 5.5456 1.7436 NEB rs202113159 2:151665346:A:C 2 151665346 A C 2:152521860 0.939874 56 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Achalasia of cardia 0.000169 56.4832 15.0192 NEB rs117271684 2:151665469:A:G 2 151665469 A G 2:152521983 0.99966 0.00893333 26 3256 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not provided;not specified Endocrine, nutritional and metabolic diseases 2.88e-05 0.1792 0.0428 Other diseases of biliary tract 0.0002059 20.675 5.57 NEB rs114089598 2:151667874:T:C 2 151667874 T C 2:152524388 0.982185 0.00596917 12 2181 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not provided;not specified Dislocation, sprain and strain of joints and ligaments at wrist and hand level 1.47e-05 0.7418 0.1712 Other and unspecified trigeminal disorders 0.0007204 113.871 33.673 NEB rs7426114 2:151671058:C:T 2 151671058 C T 2:152527572 0.999555 44022 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fall on same level 0.000404 -0.3637 0.1028 Other abnormal findings of blood chemistry 0.0005703 0.259 0.075 NEB rs201545521 2:151671066:A:G 2 151671066 A G 2:152527580 0.984388 1474 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of corpus uteri (other cancers excluded from controls) 0.00102 1.362 0.4147 Benign mammary dysplasia 0.0001504 7.792 2.056 NEB rs34577613 2:151671094:C:T 2 151671094 C T 2:152527608 0.999325 38642 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fall on same level 0.000641 0.373 0.1093 Other and unspecified injuries of lower leg 0.001201 0.589 0.182 NEB rs34800215 2:151671122:C:G 2 151671122 C G 2:152527636 0.999559 4601 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not specified Abscess of external ear 0.000173 2.0644 0.5498 Benign neoplasm: Stomach (other cancers excluded from controls) 1.845e-05 8.445 1.972 NEB rs6711382 2:151674563:A:G 2 151674563 A G 2:152531077 0.99858 36095 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Residual foreign body in soft tissue 0.000591 -0.338 0.0984 Fourth [trochlear] nerve palsy 0.0003898 -0.315 0.089 NEB rs146616621 2:151677746:T:C 2 151677746 T C 2:152534260 0.971599 249 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Cranial nerves 0.000347 8.969 2.5069 NEB rs117048449 2:151678031:T:C 2 151678031 T C 2:152534545 0.999896 0.00890612 32 3240 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not provided;not specified Endocrine, nutritional and metabolic diseases 3.11e-05 0.1785 0.0429 Other specified disorders of muscle 6.682e-05 36.743 9.215 NEB rs187343008 2:151679785:T:C 2 151679785 T C 2:152536299 0.979272 2730 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline myopathy 2;not specified Other bursopathies 1e-04 0.8701 0.2237 Superficial injury of hip and thigh 0.001347 8.86 2.764 NEB rs6735208 2:151679984:T:A 2 151679984 T A 2:152536498 0.998751 43656 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormal findings of blood chemistry 0.000838 0.4552 0.1363 Fourth [trochlear] nerve palsy 0.0003745 -0.293 0.082 NEB rs143123053 2:151687453:A:G 2 151687453 A G 2:152543967 0.967526 1531 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nemaline myopathy 2 All anxiety disorders 0.00101 0.4201 0.1278 Benign neoplasm: Skin of scalp and neck 0.0005088 152.341 43.826 NEB rs36105240 2:151710447:T:C 2 151710447 T C 2:152566961 0.996521 0.00961654 28 3505 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nemaline Myopathy, Recessive;Nemaline myopathy 2;not specified Other and unspecified injuries of head 1.13e-05 2.0389 0.4643 Other and unspcified rosacea 0.0004339 14.82 4.212 NEB rs373133009 2:151723457:G:T 2 151723457 G T 2:152579971 0.927627 224 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pyogenic arthritis 0.000368 4.5782 1.2854 NEB rs35686968 2:151724301:C:G 2 151724301 C G 2:152580815 0.991112 0.0210268 182 7543 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nemaline myopathy 2;not provided;not specified Residual foreign body in soft tissue 3.09e-05 0.9605 0.2305 Gout, unspecified 6.891e-05 3.13 0.787 NEB rs747225286 2:151724873:G:A 2 151724873 G A 2:152581387 0.84042 95 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of thorax 0.000447 33.4021 9.5141 NEB rs188718613 2:151724895:T:C 2 151724895 T C 2:152581409 0.979076 6662 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of shoulder and upper arm 0.000236 1.3977 0.3801 Congenital obstructive defects of renal pelvis and congenital malformations of ureter 0.00158 8.599 2.722 NEB rs770886969 2:151727801:ATGCTGGCTGTGCCAG:A 2 151727801 ATGCTGGCTGTGCCAG A 2:152584315 0.981157 1260 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dermatopolymyositis (FG) 0.00142 4.1968 1.3157 Disorders of eyelid in diseases classified elsewhere 0.00176 52.19 16.685 FMNL2 rs189416564 2:152549066:C:G 2 152549066 C G 2:153405580 0.998721 952 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bell's palsy 0.000604 1.438 0.4193 FMNL2 rs191661281 2:152619149:C:T 2 152619149 C T 2:153475663 0.913759 1600 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burns and corrosions of multiple and unspecified body regions 0.000362 3.2311 0.906 Blepharochalasis 0.0008294 7.716 2.308 ARL6IP6 rs116506483 2:152718791:G:T 2 152718791 G T 2:153575305 0.992571 2099 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Convalescence 0.000166 1.6163 0.4292 Benign neoplasm: Other and unspecified parts of small intestine (other cancers excluded from controls) 0.0005771 108.662 31.568 GPD2 rs116503732 2:156550697:A:G 2 156550697 A G 2:157407209 0.985842 1403 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dorsopathies 0.000225 -0.2628 0.0712 Other and unspecified diseases of blood and blood-forming organs 0.0004992 153.946 44.222 ACVR1C rs55920843 2:157556189:T:G 2 157556189 T G 2:158412701 0.909918 702 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other lack of coordination 0.000702 6.9487 2.0504 Chronic nephritic syndrome 0.0006272 105.512 30.855 ACVR1 rs13406336 2:157799450:G:C 2 157799450 G C 2:158655962 0.930119 0.00679391 20 2476 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Progressive myositis ossificans;not specified Other orthopaedic follow-up care 6.49e-05 1.4404 0.3606 Other papulosquamous disorders 0.002566 73.055 24.227 CCDC148 rs145531516 2:158309623:T:A 2 158309623 T A 2:159166135 0.976719 1507 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyarthritis, unspecified 0.00111 2.095 0.6424 Other and unspecified anaemias 6.939e-05 6.708 1.686 PKP4 rs148782148 2:158680478:A:T 2 158680478 A T 2:159536990 0.890765 0.00105883 0 389 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcoholic liver disease 2.64e-05 3.9913 0.9498 LY75 rs35675007 2:159882292:G:A 2 159882292 G A 2:160738803 0.886646 335 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neuralgia and neuritis, unspecified 0.000567 4.8345 1.4025 ITGB6 rs55841905 2:160137686:C:T 2 160137686 C T 2:160994197 0.999146 4383 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Noninfective enteritis and colitis 0.000967 0.2761 0.0837 Pneumonia due to Streptococcus pneumoniae 0.001383 9.173 2.868 ITGB6 rs142197545 2:160137689:G:T 2 160137689 G T 2:160994200 0.986889 1178 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to lifestyle 0.00267 1.2572 0.4186 Residual foreign body in soft tissue 0.002534 37.159 12.307 DPP4 rs56179129 2:162033632:C:T 2 162033632 C T 2:162890142 0.906042 71 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatopolymyositis 0.000555 37.0484 10.7309 GCG rs150179526 2:162144091:T:C 2 162144091 T C 2:163000601 0.967506 0.00990778 54 3586 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Volume depletion 6.65e-05 1.1366 0.285 0.0001193 9.129 2.373 FAP rs78722278 2:162219117:A:G 2 162219117 A G 2:163075627 0.96115 1516 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter UC patients in KELA-register ( KELA 208 prior to 1994, or ICD K51) 7e-04 -0.8592 0.2535 Renal tubulo-intestitial diseases 0.0004459 4.426 1.261 IFIH1 rs1990760 2:162267541:C:T 2 162267541 C T 2:163124051 0.998473 0.584121 125682 88917 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism,other/unspecified 8.88e-11 0.0788 0.0121 Hypothyroidism,other/unspecified 1.966e-11 0.06 0.009 IFIH1 rs35732034 2:162268086:C:T 2 162268086 C T 2:163124596 0.988721 0.00208771 4 763 pLoF dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1 Atherosclerosis, excluding cerebral, coronary and PAD 9.51e-05 0.9915 0.254 Endocrine, nutritional and metabolic diseases 0 1.597 0 IFIH1 rs35667974 2:162268127:T:C 2 162268127 T C 2:163124637 0.991464 0.019067 134 6871 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aicardi-Goutieres syndrome 7;Singleton-Merten syndrome 1;not specified Papulosquamous disorders 5.93e-06 -0.3574 0.0789 0.0003792 -0.675 0.19 IFIH1 rs3747517 2:162272314:T:C 2 162272314 T C 2:163128824 0.994381 0.661859 161656 81503 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism,other/unspecified 1.18e-06 0.0617 0.0127 Hypothyroidism,other/unspecified 5.246e-07 0.043 0.009 IFIH1 rs72650663 2:162276886:G:A 2 162276886 G A 2:163133396 0.989307 383 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atherosclerosis, excluding cerebral, coronary and PAD 0.000989 1.1432 0.3471 IFIH1 rs35744605 2:162277580:C:A 2 162277580 C A 2:163134090 0.983191 1035 pLoF dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melignant neoplasm of mesothelium and soft tissue (other cancers excluded from controls) 0.000164 3.0962 0.8215 IFIH1 rs35337543 2:162279995:C:G 2 162279995 C G 2:163136505 0.910599 140 pLoF dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Disorders of breast 0.000631 1.833 0.5363 IFIH1 rs145520044 2:162282551:C:T 2 162282551 C T 2:163139061 0.974905 224 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Postprocedural disorders of digestive system, not elsewhere classified 0.00239 7.3122 2.4082 SCN3A rs41265137 2:165090569:C:A 2 165090569 C A 2:165947079 0.983615 6321 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other reactioin to severe stress, and adjustment disorders 0.000631 -0.2607 0.0763 Hyperkinetic disorders (excl. ADHD) 0.0009296 7.818 2.361 SCN3A rs140990288 2:165127774:C:T 2 165127774 C T 2:165984284 0.995181 928 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Symptoms and signs involving emotional state 0.000482 3.6082 1.0337 Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 0.0005496 134.384 38.892 SCN3A rs147678484 2:165146791:G:A 2 165146791 G A 2:166003301 0.997782 986 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Adjustment and management of implanted device 0.000568 1.381 0.4007 Malignant neoplasm of testis (other cancers excluded from controls) 0.0006214 127.474 37.25 SCN3A rs72471101 2:165176265:CATT:C 2 165176265 CATT C 2:166032775 0.996512 52062 inframe_indel dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute upper respiratory infections of multiple and unspecified sites 0.000209 0.0632 0.017 Malignant neoplasm of liver and intrahepatic bile ducts (other cancers excluded from controls) 0.0005285 0.725 0.209 SCN2A rs17183814 2:165295879:G:A 2 165295879 G A 2:166152389 0.999137 16910 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign familial neonatal-infantile seizures;Early Infantile Epileptic Encephalopathy, Autosomal Dominant;History of neurodevelopmental disorder;not specified Myeloid leukaemia 0.000784 0.7857 0.234 Outcome of delivery 0.0006795 0.58 0.171 SCN2A rs144814658 2:165295923:G:A 2 165295923 G A 2:166152433 0.9737 194 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other skin changes 0.000937 4.3984 1.3293 SCN2A rs2228980 2:165344715:A:G 2 165344715 A G 2:166201225 0.906128 0.00100983 0 371 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postmenopausal atrophic vaginitsi 7.66e-05 4.8631 1.2296 GALNT3 rs146521644 2:165749816:C:T 2 165749816 C T 2:166606326 0.99266 2419 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydronephrosis 0.000177 1.0474 0.2793 Paralytic ileus 0.0002307 20.569 5.585 TTC21B rs146496725 2:165890935:G:C 2 165890935 G C 2:166747445 0.976668 784 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Any death 0.00164 -0.5071 0.1611 TTC21B rs151227843 2:165899823:G:A 2 165899823 G A 2:166756333 0.989308 434 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Jeune thoracic dystrophy;Joubert syndrome;not provided Other and unspecified injuries of ankle and foot 0.00131 4.3168 1.343 Postzoster neuralgia 0.0002592 270.929 74.166 TTC21B rs34489989 2:165901892:G:A 2 165901892 G A 2:166758402 0.974352 0.000451838 2 164 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia in other diseases classified elsewhere 1.99e-05 12.0966 2.8356 TTC21B rs139441507 2:165917310:G:A 2 165917310 G A 2:166773820 0.837616 148 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Viral pneumonia (known virus, not influenza) 0.000415 7.7645 2.1994 TTC21B rs146320075 2:165917459:T:C 2 165917459 T C 2:166773969 0.998589 847 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Asphyxiating thoracic dystrophy 4;Jeune thoracic dystrophy;Nephronophthisis;Nephronophthisis 12;Nephronophthisis 12;not provided Burn and corrosion confined to eye and adnexa 0.00106 3.6316 1.1089 Olecranon bursitis 0.0003249 223.24 62.104 TTC21B rs2163649 2:165924648:G:A 2 165924648 G A 2:166781158 0.999943 8049 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Jeune thoracic dystrophy;Jeune thoracic dystrophy;Joubert syndrome;Nephronophthisis;not specified Other benign neoplasms of skin (other cancers excluded from controls) 0.00044 0.2443 0.0695 Long labour 0.0001735 2.518 0.671 TTC21B rs74447004 2:165933044:C:T 2 165933044 C T 2:166789554 0.941303 0.00118131 0 434 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 1 diabetes, strict (exclude DM2) 9.17e-05 2.1579 0.5517 TTC21B rs1432273 2:165941136:C:T 2 165941136 C T 2:166797646 0.999833 81955 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic single thyroid nodule 0.000335 -0.1834 0.0511 Nontoxic single thyroid nodule 0.0008787 -0.115 0.034 SCN1A rs140731963 2:166012239:G:A 2 166012239 G A 2:166868749 0.991709 944 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Parkinson's disease (more controls excluded) 0.000502 1.4786 0.4249 SCN1A rs121918799 2:166015636:G:C 2 166015636 G C 2:166872146 0.981665 1133 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Absence seizures;Early infantile epileptic encephalopathy;Epilepsy;Familial hemiplegic migraine;Familial hemiplegic migraine type 3;Generalized tonic-clonic seizures;History of neurodevelopmental disorder;Rolandic epilepsy;Seizures;not provided;not specified Unspecified diabetes 0.0011 0.8764 0.2686 Other conjunctival vascular disorders and cysts 0.0008362 96.218 28.803 SCN1A rs2298771 2:166036278:C:T 2 166036278 C T 2:166892788 0.999995 69640 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholelithiasis 0.000385 -0.0542 0.0153 Type 2 diabetes with renal complications 0.0001472 -0.124 0.033 SCN1A rs121918769 2:166043901:C:T 2 166043901 C T 2:166900411 0.991722 0.000590656 0 217 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mixed disorders of conduct and emotions 7.11e-05 7.5818 1.9086 SCN1A rs121918817 2:166045080:C:T 2 166045080 C T 2:166901590 0.97048 154 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Dislocation, sprain and strain of joints and ligaments of elbow 0.000647 7.049 2.0664 SCN9A rs3750904 2:166198883:T:C 2 166198883 T C 2:167055393 0.99955 377 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other congenital malformations of skin 0.000164 5.5092 1.4617 SCN9A rs202084411 2:166204084:A:G 2 166204084 A G 2:167060594 0.975159 72 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of skin appendages 0.000436 3.0708 0.873 SCN9A rs180922748 2:166233432:G:C 2 166233432 G C 2:167089942 0.989785 462 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Symptoms and signs involving the skin and subcutaneous tissue 0.0012 0.73 0.2254 SCN9A rs141268327 2:166238128:T:C 2 166238128 T C 2:167094638 0.966202 590 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disturbances of skin sensation 0.000604 1.2754 0.3718 SCN9A rs73019664 2:166242620:A:G 2 166242620 A G 2:167099130 0.969786 413 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not provided;not specified Symptoms and signs involving emotional state 0.000263 6.713 1.8395 Unspecified chronic bronchitis 0.0003013 216.945 60.026 SCN9A rs6746030 2:166242648:A:G 2 166242648 A G 2:167099158 0.99431 33796 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of skin and subcutaneous tissue 0.000868 -0.0865 0.026 Benign neoplasm of bone and articular cartilage (other cancers excluded from controls) 0.0008732 -0.139 0.042 SCN9A rs200160858 2:166251835:C:A 2 166251835 C A 2:167108345 0.989386 304 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes, strict (exclude DM1) 0.000681 -0.7151 0.2105 SCN9A rs74401238 2:166251875:C:T 2 166251875 C T 2:167108385 0.998318 11131 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified Other viral diseases 0.000649 0.2646 0.0776 Sequelae of infectious and parasitic diseases 0.0003611 2.29 0.642 SCN9A rs190664764 2:166251876:G:A 2 166251876 G A 2:167108386 0.997428 0.0274288 320 9757 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;not provided;not specified Subacute thyroiditis 5.85e-05 1.0271 0.2556 Arterial embolism and thrombosis 0.0005978 3.58 1.043 SCN9A rs201984007 2:166272407:T:C 2 166272407 T C 2:167128917 0.924315 201 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified hydrocephalus 0.00134 18.4521 5.7545 SCN9A rs4369876 2:166272746:C:A 2 166272746 C A 2:167129256 0.976295 74 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of skin appendages 0.000501 2.9979 0.8615 SCN9A rs12478318 2:166277030:T:G 2 166277030 T G 2:167133540 0.981575 77 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of skin appendages 0.000597 2.8993 0.8445 SCN9A rs182650126 2:166280452:T:C 2 166280452 T C 2:167136962 0.990505 1478 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified Thyrotoxicosis with toxic multinodular goitre 0.00097 1.6818 0.5098 Pleural plaque 0.0007018 9.127 2.693 SCN9A rs121908919 2:166281786:T:C 2 166281786 T C 2:167138296 0.990591 544 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Noninfective enteritis and colitis 0.000346 0.8901 0.2487 SCN9A rs41268673 2:166284599:G:T 2 166284599 G T 2:167141109 0.970963 9264 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Primary erythromelalgia;not provided;not specified Symptoms and signs involving cognition, perception, emotional state and behaviour 0.000172 -0.1366 0.0364 Ocular pain 0.0009334 3.167 0.957 SCN9A rs71428908 2:166304242:G:C 2 166304242 G C 2:167160752 0.91503 0.000713143 0 262 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Schizoid personality disorder 3.41e-05 14.5535 3.5115 SCN9A rs73969684 2:166305834:C:T 2 166305834 C T 2:167162344 0.950408 908 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Indifference to Pain;Familial Febrile Seizures;Generalized epilepsy with febrile seizures plus;Generalized epilepsy with febrile seizures plus, type 7;Hereditary sensory and autonomic neuropathy type IIA;Inherited Erythromelalgia;Paroxysmal extreme pain disorder;Severe myoclonic epilepsy in infancy;Small fiber neuropathy;not provided;not specified Other medical care 0.000403 1.1602 0.3279 0 6.202 0 SCN7A rs34799257 2:166406082:C:T 2 166406082 C T 2:167262592 0.975725 0.00461365 14 1681 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of urinary and pelvic organs 2.12e-05 4.5153 1.062 Dorsopathies 2.647e-05 2.324 0.553 SCN7A rs148715564 2:166432502:T:A 2 166432502 T A 2:167289012 0.974645 361 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other necrotizing vasculopathies 0.000489 4.3207 1.2392 SCN7A rs116825611 2:166441505:C:T 2 166441505 C T 2:167298015 0.953426 172 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to negative life events in childhood 0.000111 19.728 5.1028 SCN7A rs143491867 2:166443618:T:C 2 166443618 T C 2:167300128 0.99032 984 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Pre-existing hypertension complicating pregnancy, childbirth and the puerperium 0.000455 1.9043 0.5431 Acute peritonitis 0.001014 81.637 24.84 XIRP2 rs114147582 2:167135972:G:A 2 167135972 G A 2:167992482 0.989386 2352 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other prurigo 0.00133 3.4211 1.0661 Chronic nephritic syndrome 0.000328 17.134 4.77 XIRP2 rs77546992 2:167184577:C:T 2 167184577 C T 2:168041087 0.991747 4306 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: other/unspecified salivary gland (other cancers excluded from controls) 0.000201 1.586 0.4266 Isolated proteinuria 9.94e-05 31.074 7.984 XIRP2 rs77278822 2:167218196:C:T 2 167218196 C T 2:168074706 0.996792 1019 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Communicating hydrocephalus 0.00118 4.3926 1.3544 XIRP2 rs111563369 2:167241786:C:T 2 167241786 C T 2:168098296 0.988651 2462 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Single spontaneous delivery 0.000278 -0.2391 0.0658 All influenza 1.149e-05 8.449 1.926 XIRP2 rs143400009 2:167242806:T:C 2 167242806 T C 2:168099316 0.960967 150 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other contact dermatitis 0.000213 6.6378 1.7925 XIRP2 rs144610829 2:167245435:G:A 2 167245435 G A 2:168101945 0.992298 3486 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Proliferative diabetic retinopathy 0.000215 -0.3587 0.0969 0.0001065 3.494 0.902 XIRP2 rs184983098 2:167246461:C:T 2 167246461 C T 2:168102971 0.993458 0.0039495 12 1439 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fever of other and unknown origin 3.59e-06 0.6736 0.1454 0.0002147 3.205 0.866 XIRP2 rs117183838 2:167246506:G:A 2 167246506 G A 2:168103016 0.996823 1029 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Communicating hydrocephalus 0.00125 4.3325 1.342 XIRP2 rs151053139 2:167247673:C:G 2 167247673 C G 2:168104183 0.984037 6202 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glomerular diseases 0.000696 0.3287 0.0969 Postpartum care and examination 0.000208 2.468 0.665 XIRP2 rs115922984 2:167249248:G:A 2 167249248 G A 2:168105758 0.979617 267 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed conductive and sensorineural hearing loss 0.000799 2.8646 0.8543 XIRP2 rs143084183 2:167250525:A:G 2 167250525 A G 2:168107035 0.999045 0.00493212 16 1796 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cleft lip and cleft palate 1.88e-05 5.5852 1.3053 0.0003531 13.58 3.801 XIRP2 rs3749003 2:167250841:A:G 2 167250841 A G 2:168107351 0.996759 1018 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Communicating hydrocephalus 0.00118 4.3965 1.3552 ABCB11 rs201240844 2:168958116:G:A 2 168958116 G A 2:169814626 0.977098 346 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Retinal haemorrhage 0.00019 10.3333 2.7688 ABCB11 rs138642043 2:168964291:C:T 2 168964291 C T 2:169820801 0.942778 1720 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified DVT of lower extremities 0.000355 0.6593 0.1846 0.001209 2.111 0.652 ABCB11 rs11568364 2:168968473:T:C 2 168968473 T C 2:169824983 0.982402 1210 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial Intrahepatic Cholestasis;not specified Diplopia 0.000101 1.5299 0.3936 Extreme obesity with alveolar hypoventilation 0.001405 57.008 17.851 ABCB11 rs2287622 2:168973818:A:G 2 168973818 A G 2:169830328 0.999486 0.509943 95854 91493 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 4.15e-08 0.2902 0.0529 Intrahepatic Cholestasis of Pregnancy (ICP) 6.385e-09 0.252 0.043 ABCB11 rs200739891 2:168990858:A:G 2 168990858 A G 2:169847368 0.987399 0.000827463 0 304 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Effects of other external causes 4.06e-05 9.8501 2.4002 ABCB11 rs183406496 2:169014326:C:T 2 169014326 C T 2:169870836 0.985296 660 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Vitreous bleeding (caused by prolif. dmrp when together with H36.03*) 0.000436 2.2405 0.637 Effects of other external causes 0.000277 218.2 60.012 LRP2 rs34564141 2:169128828:C:T 2 169128828 C T 2:169985338 0.995055 0.00790717 40 2865 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Donnai Barrow syndrome Intracranial injury 6.99e-05 -0.3853 0.0969 0.0005284 -1.062 0.306 LRP2 rs142245618 2:169132617:A:G 2 169132617 A G 2:169989127 0.992549 741 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Donnai Barrow syndrome;not provided;not specified Diseases of the respiratory system 0.000765 -0.2528 0.0751 Cardiovascular diseases (excluding rheumatic etc) 0 2.879 0 LRP2 rs41268685 2:169139560:C:T 2 169139560 C T 2:169996070 0.976091 4988 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Donnai Barrow syndrome;not specified Acute laryngitis and tracheitis 0.00012 0.6131 0.1594 Hypoparathyroidism 0.001443 8.846 2.777 LRP2 rs35942532 2:169146825:T:C 2 169146825 T C 2:170003335 0.98807 1424 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Donnai Barrow syndrome;not provided;not specified Type 1 diabetes, strict definition, subgroup 1 0.00034 1.034 0.2886 Maternal care for known or suspected malpresentation of fetus 0.0001582 18.208 4.82 LRP2 rs4667591 2:169146922:T:G 2 169146922 T G 2:170003432 0.99853 71952 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Paranoid personality disorder 0.000783 0.3177 0.0946 Paranoid personality disorder 0.0006069 0.205 0.06 LRP2 rs148356370 2:169152881:G:T 2 169152881 G T 2:170009391 0.882226 258 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of penis 0.000318 3.983 1.1062 LRP2 rs2075252 2:169154475:T:C 2 169154475 T C 2:170010985 0.999897 73970 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of parathyroid gland 0.000459 -0.1101 0.0314 Superficial injury of lower leg 0.000764 0.069 0.021 LRP2 rs79723119 2:169157394:A:C 2 169157394 A C 2:170013904 0.993931 0.0115083 62 4166 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Donnai Barrow syndrome;not specified Carcinoma in situ of cervix uteri 4.2e-05 2.1887 0.5343 Chronic ulcer of skin, not elsewhere classified 0.0008664 11.444 3.436 LRP2 rs34355135 2:169173147:C:T 2 169173147 C T 2:170029657 0.986908 2984 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Donnai Barrow syndrome;not provided;not specified Erythema multiforme 0.000313 2.0895 0.5798 Spinal osteochondrosis 0.001095 79.073 24.219 LRP2 rs142549310 2:169173996:C:T 2 169173996 C T 2:170030506 0.990949 0.00988873 48 3585 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inborn genetic diseases Additional codes for the location of defect, injury or illness 3.04e-05 1.8237 0.4373 Benign neoplasm of bone and articular cartilage (other cancers excluded from controls) 0.001523 8.587 2.708 LRP2 rs148251117 2:169185731:C:T 2 169185731 C T 2:170042241 0.99431 2075 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intracranial injury 0.00056 -0.3888 0.1127 Acute epiglottitis 0.002302 42.125 13.82 LRP2 rs35734447 2:169185735:T:C 2 169185735 T C 2:170042245 0.979943 0.017061 96 6172 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the neck 8.64e-05 0.4393 0.1119 Leiomyoma of uterus (other cancers excluded from controls) 0.0005714 1.287 0.374 LRP2 rs2228171 2:169196995:C:T 2 169196995 C T 2:170053505 0.998744 83646 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kela-code for behavioural disturbances in mental retardation 0.000102 0.5375 0.1383 Kela-code for behavioural disturbances in mental retardation 2.356e-05 0.628 0.148 LRP2 rs17848169 2:169204093:T:C 2 169204093 T C 2:170060603 0.993697 14859 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Donnai Barrow syndrome;not specified Drug-induced osteoporosis with pathological fracture 0.000245 1.3647 0.3721 Ganglion 0.0003104 0.831 0.23 LRP2 rs61995915 2:169206467:T:C 2 169206467 T C 2:170062977 0.992981 11252 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Donnai Barrow syndrome;not specified Shoulder lesions 0.000474 0.1328 0.038 Dislocation, sprain and strain of joints and ligaments of knee 0.0008265 0.548 0.164 LRP2 rs35413340 2:169206870:T:C 2 169206870 T C 2:170063380 0.989014 695 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Prolapse and hernia of ovary and fallopian tube 0.000229 3.0182 0.819 0.007879 -2.173 0.818 LRP2 rs4667596 2:169213662:C:T 2 169213662 C T 2:170070172 0.991135 3228 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Donnai Barrow syndrome;not specified Other diseases of upper respiratory tract 0.00129 -0.1495 0.0464 Other and unspecified tonssillitis 0.0002136 3.84 1.037 LRP2 rs138070797 2:169226426:T:C 2 169226426 T C 2:170082936 0.992054 770 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes, insuline treatment (Kela reimbursement) 0.000153 0.4644 0.1226 LRP2 rs149469954 2:169231732:G:A 2 169231732 G A 2:170088242 0.98408 0.000642373 2 234 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Kyphosis 9.77e-05 22.8533 5.8654 LRP2 rs141260047 2:169231834:G:A 2 169231834 G A 2:170088344 0.988777 238 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Specific development disorders of scholastic skills 0.000677 6.7907 1.998 LRP2 rs146289506 2:169238246:C:A 2 169238246 C A 2:170094756 0.998004 1596 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Donnai Barrow syndrome;not specified Other inflammation of vagina/vulva 0.000601 2.1443 0.625 Polyarhtrosis 0.002014 6.024 1.951 LRP2 rs17848149 2:169241197:T:G 2 169241197 T G 2:170097707 0.997048 14956 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Donnai Barrow syndrome;not specified Other congenital malformations of circulatory system 0.000807 0.7956 0.2375 Complications of other internal prosthetic devices, implants and grafts 0.0007255 3.416 1.011 LRP2 rs150552608 2:169243501:G:A 2 169243501 G A 2:170100011 0.994476 142 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin of trunk (other cancers excluded from controls) 0.00201 7.9729 2.5808 LRP2 rs147058423 2:169246785:C:T 2 169246785 C T 2:170103295 0.991385 0.00122759 4 447 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Donnai Barrow syndrome;not provided;not specified Nummular dermatitis 8.42e-05 3.7004 0.9411 Endocrine, nutritional and metabolic diseases 0 1.762 0 LRP2 rs114842875 2:169246962:G:A 2 169246962 G A 2:170103472 0.983496 6712 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hidradenitis suppurativa 0.00148 1.011 0.3181 Transport accidents 2.352e-05 16.872 3.99 LRP2 rs144451000 2:169271046:C:A 2 169271046 C A 2:170127556 0.941467 0.0023844 4 872 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Idiopathic gout 9.26e-05 2.7587 0.7057 Otitis media, unspecified 0.000606 136.955 39.941 LRP2 rs34291900 2:169273037:C:T 2 169273037 C T 2:170129547 0.996916 15315 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Donnai Barrow syndrome;not specified Impingement syndrome of shoulder 0.000228 0.2074 0.0563 Malignant neoplasm of pancreas (other cancers excluded from controls) 0.0004346 2.204 0.626 LRP2 rs34693334 2:169290992:C:G 2 169290992 C G 2:170147502 0.994209 28808 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Donnai Barrow syndrome;not specified Fracture of lower leg, including ankle 0.000276 0.1049 0.0288 Type of accident 0.0005877 2.076 0.604 LRP2 rs142594441 2:169307305:C:T 2 169307305 C T 2:170163815 0.992108 8075 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Donnai Barrow syndrome Other diseases of the digestive system 0.00161 0.1997 0.0633 Other contact dermatitis 0.0005497 2.957 0.856 LRP2 rs34592807 2:169307317:T:C 2 169307317 T C 2:170163827 0.989155 0.0043469 10 1587 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nausea and vomiting 1.18e-05 0.939 0.2143 Benign neoplasm: Connective and other soft tissue of lower limb, including hip (other cancers excluded from controls) 0.0007348 110.218 32.645 LRP2 rs2229263 2:169318824:T:C 2 169318824 T C 2:170175334 0.999684 70377 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Salphingitis and oophoritis 0.000823 -0.1078 0.0322 Paroxysmal tachycardia 0.0005432 0.118 0.034 LRP2 rs114460450 2:169320815:G:C 2 169320815 G C 2:170177325 0.985224 0.0176789 148 6347 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Donnai Barrow syndrome;not provided Other diseases of intestine 8.08e-05 0.7652 0.1941 Injury of muscle and tendon at forearm level 0.000792 12.012 3.58 BBS5 rs137853921 2:169493769:A:G 2 169493769 A G 2:170350279 0.991456 1989 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Bardet-Biedl syndrome;Cone/cone-rod dystrophy;not provided;not specified Examination and encounter for administrative purposes 0.000281 4.0485 1.1147 Juvenile rheuma 0.001317 63.882 19.887 BBS5 rs35487251 2:169497628:G:A 2 169497628 G A 2:170354138 0.981549 3603 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bardet-Biedl syndrome;not specified Other assisted single delivery 0.000174 2.9012 0.7728 Impotence 0.0001982 20.917 5.621 KLHL41 rs28730867 2:169509786:C:T 2 169509786 C T 2:170366296 0.990866 3435 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline myopathy 9;not specified Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.000603 0.2454 0.0715 False labour 0.0001178 3.059 0.794 KLHL41 rs147294651 2:169510176:G:A 2 169510176 G A 2:170366686 0.890935 111 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic iridocyclitis 0.000405 10.6189 3.0024 KLHL41 rs28763868 2:169510589:G:A 2 169510589 G A 2:170367099 0.992974 36261 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified hydrocephalus 0.00118 0.6673 0.2058 Bursitis of shoulder 0.00177 1.045 0.334 KLHL41 rs139415849 2:169510641:T:G 2 169510641 T G 2:170367151 0.98116 3582 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline myopathy 9;not specified Other assisted single delivery 0.000165 2.9262 0.7767 !Aliquae complicationes praecoces traumatis 0.0002563 20.51 5.61 FASTKD1 rs148187838 2:169530622:G:GT 2 169530622 G GT 2:170387132 0.954202 0.0145514 82 5264 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of other and unspecified parts of face 8.38e-05 0.9984 0.2538 Complications of genitourinary prosthetic devices, implants and grafts 0.0002423 20.156 5.492 FASTKD1 rs34291832 2:169531376:G:C 2 169531376 G C 2:170387886 0.998232 1142 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system (other cancers excluded from controls) 0.000326 4.727 1.3153 GAD1 rs113828797 2:170859706:A:G 2 170859706 A G 2:171716216 0.966137 2327 LC recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of psychological developtment 0.00043 0.9393 0.2668 Endometriosis of pelvic peritoneum 0.0003187 5.532 1.537 DCAF17 rs201346228 2:171435140:G:A 2 171435140 G A 2:172291650 0.972714 171 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Primary gonarthrosis, bilateral 0.000689 1.6765 0.494 DCAF17 rs3731984 2:171453141:T:A 2 171453141 T A 2:172309651 0.996452 8477 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities;not specified Unspecified haematuria 0.00015 0.2637 0.0696 Panniculitis, unspecified 0.0004517 15.728 4.484 DCAF17 rs149650431 2:171458067:G:A 2 171458067 G A 2:172314577 0.942764 119 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Complications of surgical and medical care, not elsewhere classified 0.000906 1.2127 0.3654 DCAF17 rs78488864 2:171473914:T:C 2 171473914 T C 2:172330424 0.930373 211 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Kela-code for behavioural disturbances in mental retardation 0.00134 18.3094 5.7098 DCAF17 rs147685213 2:171481070:T:C 2 171481070 T C 2:172337580 0.977191 0.000481779 0 177 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hyperhidrosis 7.94e-06 13.828 3.0958 SLC25A12 rs35565687 2:171793655:C:T 2 171793655 C T 2:172650165 0.997198 27659 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypomyelination, global cerebral;not provided;not specified Persons encountering health services in other circumstances 0.000349 -0.0729 0.0204 Anaemias 0.0003182 0.306 0.085 SLC25A12 rs35881803 2:171834750:C:T 2 171834750 C T 2:172691260 0.972503 1523 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypomyelination, global cerebral;not provided;not specified Melignant neoplasm of mesothelium and soft tissue (other cancers excluded from controls) 0.000294 2.3846 0.6586 Motor neuron disease 0.0005176 147.776 42.569 ITGA6 rs138572695 2:172427936:A:G 2 172427936 A G 2:173292664 0.995938 2090 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of the digestive system 0.000149 0.6218 0.1639 Malignant neoplasm of liver and intrahepatic bile ducts 6.714e-05 33.759 8.469 ITGA6 rs11895564 2:172475080:G:A 2 172475080 G A 2:173339808 0.995642 71727 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertrophic scar 0.000117 0.2547 0.0661 Hypertrophic scar 0.0001032 0.319 0.082 ITGA6 rs199587983 2:172491048:C:T 2 172491048 C T 2:173355776 0.993142 7032 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epidermolysis bullosa junctionalis with pyloric atresia Infections of the skin and subcutaneous tissue 0.000696 0.2023 0.0597 Persons encountering health services for examination and investigation 0.0003771 -0.389 0.109 ITGA6 rs61737182 2:172491072:G:A 2 172491072 G A 2:173355800 0.997261 1369 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysis bullosa junctionalis with pyloric atresia Seropositive rheumatoid arthritis, strict definition 0.00055 1.7352 0.5022 Contusion of toe(s) without damage to nail 0.0005574 141.385 40.963 ITGA6 rs138874769 2:172491261:C:T 2 172491261 C T 2:173355989 0.83736 0.00034024 0 125 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other CVD (FINNGEN) 6.87e-05 8.0898 2.0322 ITGA6 rs150695902 2:172491300:G:A 2 172491300 G A 2:173356028 0.947849 0.000391956 0 144 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pericarditis 5.95e-05 12.4709 3.1062 RAPGEF4 rs150495482 2:173017191:C:T 2 173017191 C T 2:173881919 0.988023 1384 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erythema intertrigo 0.00014 4.6491 1.2209 Secondary parkinsonism 0.002052 40.741 13.216 RAPGEF4 rs61741755 2:173018763:G:A 2 173018763 G A 2:173883491 0.993509 4018 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Abnormal findings on diagnostic imaging of lung 0.00025 0.3732 0.1019 Abnormal findings in nipple discharge synovial fluid wound secretions 3.536e-05 50.644 12.245 SCRN3 rs145699077 2:174427852:TTCAAATTTATCAG:T 2 174427852 TTCAAATTTATCAG T 2:175292580 0.998794 0.312139 35902 78774 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Foreign body on external eye 4.9e-05 0.1478 0.0364 Open wound of shoulder and upper arm 0.000773 0.451 0.134 WIPF1 rs139003789 2:174572029:G:A 2 174572029 G A 2:175436757 0.995738 404 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Lesion of plantar nerve 0.000172 3.7271 0.9923 WIPF1 rs4972450 2:174572212:G:A 2 174572212 G A 2:175436940 0.989829 9103 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of pancreas 0.000416 -0.7129 0.202 Other diseases of pancreas 0.0002574 -0.378 0.103 CHN1 rs201101396 2:174915077:T:C 2 174915077 T C 2:175779805 0.995734 667 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital obstructive defects of renal pelvis and congenital malformations of ureter 0.00119 5.9553 1.8375 Diabetic retinopathy (more controls excluded) 0.000211 3.975 1.073 NFE2L2 rs34154613 2:177231801:C:T 2 177231801 C T 2:178096529 0.991161 1526 missense_variant dominant not provided not_provided no assertion provided none not specified Mixed hyperlipidaemia 0.00102 2.1265 0.6475 Coronary revascularization (ANGIO or CABG) 0.0001724 5.088 1.355 PDE11A rs144881528 2:177629466:C:G 2 177629466 C G 2:178494194 0.995614 606 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of nervous system 0.00233 2.5233 0.8289 PDE11A rs74357545 2:177663880:T:C 2 177663880 T C 2:178528608 0.992994 1213 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Arthropathies 0.000298 0.2512 0.0695 Melanocytic naevi of lip (other cancers excluded from controls) 0.0004344 175.234 49.807 PDE11A rs77934668 2:177728136:C:T 2 177728136 C T 2:178592864 0.991228 0.0013664 0 502 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Astigmatism 1.66e-05 5.4993 1.2769 PDE11A rs76308115 2:178014454:G:A 2 178014454 G A 2:178879181 0.992889 1483 pLoF dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Pigmented nodular adrenocortical disease, primary, 2;not specified Other disorders of breast 0.000611 1.2006 0.3503 Family history of certain disabilities and chronic diseases leading to disablement 0.0008596 96.719 29.02 PDE11A rs77972073 2:178072283:C:G 2 178072283 C G 2:178937010 0.972229 0.000827463 2 302 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bullous pemphigoid 1.27e-05 20.7688 4.7584 PDE11A rs202117698 2:178104442:GTC:G 2 178104442 GTC G 2:178969169 0.999478 5124 pLoF dominant Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Pigmented nodular adrenocortical disease, primary, 2 Urticaria 0.000953 0.3237 0.098 Viral infections of the central nervous system 0.0001596 9.007 2.386 DFNB59 rs17304212 2:178461008:C:G 2 178461008 C G 2:179325735 0.965645 25269 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other infective otitis externa 0.000807 0.3651 0.109 Systemic connective tissue disorders 0.001024 -0.374 0.114 DFNB59 rs17304212 2:178461008:C:T 2 178461008 C T 2:179325735 0.979682 25228 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Disorders of porphyrin and bilirubin metabolism 0.000438 0.9509 0.2704 Calculus of lower urinary tract 0.0003603 1.308 0.367 DFNB59 rs79399438 2:178461089:G:A 2 178461089 G A 2:179325816 0.999761 0.0138736 86 5011 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Radiculopathy 4.04e-05 0.5567 0.1356 0.0002527 20.22 5.525 TTN rs16866378 2:178528384:A:G 2 178528384 A G 2:179393111 0.984472 1513 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Chromosomal abnormalities, not elsewhere classified 0.000328 4.7097 1.3111 Hypertension complicating pregnancy, childbirth, and the puerperium 0 7.915 0 TTN rs55842557 2:178528964:G:A 2 178528964 G A 2:179393691 0.998097 21508 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Systemic connective tissue disorders 0.000255 -0.1681 0.046 Visual impairment including blindness (binocular or monocular) 0.000132 1.366 0.357 TTN rs55880440 2:178529132:A:G 2 178529132 A G 2:179393859 0.971534 0.0164622 112 5936 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified ILD-related co-morbidities 3.41e-05 -0.1214 0.0293 Congenital obstructive defects of renal pelvis and congenital malformations of ureter 0.0006274 16.101 4.709 TTN rs377056111 2:178530515:G:A 2 178530515 G A 2:179395242 0.881956 174 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Erectile dysfunction 0.000216 6.4404 1.7408 TTN rs66961115 2:178530827:G:A 2 178530827 G A 2:179395554 0.997428 8610 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;not specified Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.000784 0.5737 0.1708 Perioral dermatitis 0.0006947 12.885 3.799 TTN rs67254537 2:178530828:C:A 2 178530828 C A 2:179395555 0.994751 8602 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;not specified Pain (limb, back, neck, head abdominally) 0.00104 0.0751 0.0229 Perioral dermatitis 0.0007034 12.762 3.766 TTN rs16866380 2:178530833:G:A 2 178530833 G A 2:179395560 0.981711 1506 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Chromosomal abnormalities, not elsewhere classified 0.000326 4.7299 1.3161 Pollen allergy 6.497e-05 9.199 2.303 TTN rs56324595 2:178530846:C:T 2 178530846 C T 2:179395573 0.997543 8995 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Pain (limb, back, neck, head abdominally) 0.00053 0.0777 0.0224 Perioral dermatitis 0.0007169 12.73 3.763 TTN rs573843615 2:178531098:CAGA:C 2 178531098 CAGA C 2:179395825 0.990367 264 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of liver and intrahepatic bile ducts 0.000579 8.1479 2.3679 TTN rs56308529 2:178531435:C:G 2 178531435 C G 2:179396162 0.998708 9860 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Paroxysmal tachycardia 0.000454 0.2607 0.0744 conjunctival haemorrhage 0.0004302 3.932 1.117 TTN rs376634193 2:178531679:C:G 2 178531679 C G 2:179396406 0.823552 32 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspecified abortion 0.000622 22.2463 6.5015 TTN rs201218828 2:178531841:T:G 2 178531841 T G 2:179396568 0.987645 1587 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Primary familial hypertrophic cardiomyopathy;not provided;not specified Other coagulation defects 0.000173 1.8165 0.4837 6.425e-05 -1.259 0.315 TTN rs68080670 2:178532039:C:T 2 178532039 C T 2:179396766 0.997422 14461 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Disorders of porphyrin and bilirubin metabolism 0.000328 1.3198 0.3674 Juvenile osteochondrosis 5.838e-05 3.387 0.843 TTN rs55866005 2:178532055:C:G 2 178532055 C G 2:179396782 0.995841 2327 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Type1 diabetes, definitions combined 0.000442 0.7124 0.2028 Gestational diabetes (for exclusion) 0.0002871 3.665 1.011 TTN rs3829747 2:178532834:C:T 2 178532834 C T 2:179397561 0.997778 0.152806 8782 47357 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 1.33e-08 0.1253 0.022 Other intervertebral disc disorders 6.097e-05 -0.12 0.03 TTN rs55945684 2:178532927:A:G 2 178532927 A G 2:179397654 0.986141 313 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Liver 0.00158 8.3367 2.6382 TTN rs148525155 2:178533468:C:G 2 178533468 C G 2:179398195 0.988351 8602 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Gastro-oesophageal reflux disease 0.000207 0.1889 0.0509 Persons encountering health services in other circumstances 0.001275 0.567 0.176 TTN rs3731752 2:178533782:C:A 2 178533782 C A 2:179398509 0.984821 1515 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Chromosomal abnormalities, not elsewhere classified 0.000329 4.7073 1.3107 Hypertension complicating pregnancy, childbirth, and the puerperium 0 7.915 0 TTN rs55886356 2:178534849:C:G 2 178534849 C G 2:179399576 0.976612 389 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other noninfective gastroenteritis and colitis 0.000483 1.6289 0.4668 TTN rs34924609 2:178534950:C:T 2 178534950 C T 2:179399677 0.993609 755 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Benign neoplasm: Colon, unspecified 0.00069 1.0732 0.3163 0 3.892 0 TTN rs56273463 2:178535403:G:A 2 178535403 G A 2:179400130 0.993661 2019 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Psoriatic arthropathies 0.00035 1.1089 0.3102 Glomerulonephritis 0.001348 4.002 1.248 TTN rs2278196 2:178536168:C:T 2 178536168 C T 2:179400895 0.987493 1341 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Chromosomal abnormalities, not elsewhere classified 0.000171 5.4217 1.4429 Hypertension complicating pregnancy, childbirth, and the puerperium 0 7.915 0 TTN rs55675869 2:178537013:C:T 2 178537013 C T 2:179401740 0.997826 0.0617004 1498 21170 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 1.17e-07 0.4067 0.0768 AV-block 0.0006495 0.749 0.22 TTN rs55742743 2:178537015:C:T 2 178537015 C T 2:179401742 0.998965 1551 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Noise effects on inner ear 0.000295 2.2004 0.6079 Peritonsillar abscess 0.0005083 12.428 3.575 TTN rs72648278 2:178537208:C:T 2 178537208 C T 2:179401935 0.977328 216 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of ocular muscles, binocular movement, accommodation and refraction 0.000822 1.4405 0.4306 TTN rs1190695147 2:178539002:ACAT:A 2 178539002 ACAT A 2:179403729 0.894315 315 inframe_indel both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Adverse effects, not elsewhere classified 0.000331 2.0361 0.5672 TTN rs4894028 2:178539023:C:T 2 178539023 C T 2:179403750 0.999315 19837 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified Injury of muscle and tendon at shoulder and upper arm level 0.000367 -0.1706 0.0479 Femoral hernia 5.353e-05 1.975 0.489 TTN rs149001703 2:178539675:T:C 2 178539675 T C 2:179404402 0.987793 0.00117587 4 428 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 2.11e-05 0.9521 0.2239 TTN rs72648273 2:178539771:G:C 2 178539771 G C 2:179404498 0.998075 1574 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Bicipital tendinitis 0.00084 1.7439 0.5222 Sacroiliitis, not elsewhere classified 0.004306 24.228 8.487 TTN rs72648272 2:178539823:G:A 2 178539823 G A 2:179404550 0.99981 2842 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Malignant neoplasm of pancreas (other cancers excluded from controls) 0.000284 1.3938 0.384 Atrophic disorders of skin 0.001541 8.506 2.686 TTN rs72648270 2:178539901:T:A 2 178539901 T A 2:179404628 0.998709 1407 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Chromosomal abnormalities, not elsewhere classified 0.000286 4.9148 1.3549 Hypertension complicating pregnancy, childbirth, and the puerperium 0 7.876 0 TTN rs55704830 2:178541317:C:T 2 178541317 C T 2:179406044 0.97436 398 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bullous disorders 0.000356 4.669 1.3077 TTN rs3731749 2:178541464:C:T 2 178541464 C T 2:179406191 0.997761 0.152735 8770 47343 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 1.15e-08 0.1258 0.0221 Other intervertebral disc disorders 7.131e-05 -0.119 0.03 TTN rs200540781 2:178543909:C:G 2 178543909 C G 2:179408636 0.993946 0.000160593 0 59 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyspnoea 4.81e-05 2.3114 0.5687 TTN rs62621236 2:178543986:A:G 2 178543986 A G 2:179408713 0.999865 20030 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified Injury of muscle and tendon at shoulder and upper arm level 0.000478 -0.1665 0.0477 Femoral hernia 5.916e-05 1.944 0.484 TTN rs62621206 2:178545555:A:G 2 178545555 A G 2:179410282 0.978657 4046 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Guttate psoriasis 0.000134 2.7049 0.7083 Benign neoplasm: Pituitary gland, craniopharyngeal duct (other cancers excluded from controls) 0.000694 12.865 3.793 TTN rs72648257 2:178546284:T:C 2 178546284 T C 2:179411011 0.997867 0.0513218 1056 17799 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 4.97e-08 0.4599 0.0843 AV-block 0.0003225 0.996 0.277 TTN rs202187398 2:178546795:G:A 2 178546795 G A 2:179411522 0.939134 171 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the shoulder and upper arm 0.00293 0.9088 0.3054 TTN rs181104321 2:178547580:C:T 2 178547580 C T 2:179412307 0.993168 4622 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Abscess of Bartholin gland 0.000254 1.551 0.424 Corns and callosities 0.0003306 6.95 1.936 TTN rs200766837 2:178547823:T:G 2 178547823 T G 2:179412550 0.972205 755 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspecified jaundice 0.00103 2.6554 0.8087 TTN rs180975448 2:178548621:C:A 2 178548621 C A 2:179413348 0.938839 164 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Wegener granulomatosis 0.000286 18.1339 4.9986 TTN rs199891245 2:178549264:C:T 2 178549264 C T 2:179413991 0.999177 1858 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Congenital malformations of uterus and cervix 0.000104 3.5985 0.9272 Other keratitis 0.0009251 10.641 3.212 TTN rs16866391 2:178549435:T:C 2 178549435 T C 2:179414162 0.994272 818 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atypical mycobacterium lung infection 3e-04 8.7822 2.4293 TTN rs72648247 2:178549450:G:A 2 178549450 G A 2:179414177 0.972364 373 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Other and unspecified anaemias 0.000325 1.3785 0.3835 Headache 1.251e-06 6.408 1.322 TTN rs747122 2:178549591:C:T 2 178549591 C T 2:179414318 0.999358 19844 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified Injury of muscle and tendon at shoulder and upper arm level 0.000354 -0.171 0.0479 Femoral hernia 5.413e-05 1.972 0.488 TTN rs182549226 2:178550237:T:A 2 178550237 T A 2:179414964 0.995373 1041 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Other arthrosis 0.000226 0.6404 0.1736 AV-block 0.0001811 311.923 83.313 TTN rs72648244 2:178550265:T:C 2 178550265 T C 2:179414992 0.991432 0.0115246 72 4162 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Radiculopathy 6.96e-05 0.5922 0.1489 Heart failure,strict 0.001211 1.22 0.377 TTN rs72648238 2:178553579:C:T 2 178553579 C T 2:179418306 0.987175 209 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Systemic lupus erythematosus, unspecified 0.000661 6.9438 2.0392 TTN rs146181116 2:178555065:G:A 2 178555065 G A 2:179419792 0.995005 2622 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Mixed disorders of conduct and emotions 0.000169 2.0132 0.5353 Sexual dysfunction 0.001586 57.459 18.192 TTN rs9808377 2:178556967:A:G 2 178556967 A G 2:179421694 0.997814 0.27606 28118 73303 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 9.15e-10 0.1096 0.0179 0.0003104 -0.037 0.01 TTN rs141624266 2:178557454:C:T 2 178557454 C T 2:179422181 0.998743 8702 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Gastro-oesophageal reflux disease 0.000508 0.174 0.05 Speech disturbances, not elsewhere classified 0.0003557 4.154 1.163 TTN rs72648227 2:178557942:G:T 2 178557942 G T 2:179422669 0.983893 706 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter DVT of lower extremities 0.000674 0.9977 0.2934 TTN rs377367951 2:178559898:G:C 2 178559898 G C 2:179424625 0.905586 36 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Atrial fibrillation and flutter with reimbursement 0.000305 5.7884 1.6031 TTN rs199788826 2:178560015:C:T 2 178560015 C T 2:179424742 0.985092 926 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Focal epilepsy 0.00026 2.2472 0.6152 Other, unspecified and serous retinal detachments 0.001397 61.469 19.237 TTN rs781472455 2:178560450:G:C 2 178560450 G C 2:179425177 0.952798 139 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diabetic retinopathy 0.000346 1.4489 0.4049 TTN rs202040332 2:178560726:G:C 2 178560726 G C 2:179425453 0.997655 0.0103868 98 3718 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified COPD related to chronic (opportunist) infections 2.8e-05 2.89 0.6898 Hereditary retinal dystrophy 0.0002149 22.062 5.961 TTN rs187270666 2:178561239:C:T 2 178561239 C T 2:179425966 0.997247 4322 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Manic episode 0.0012 1.0559 0.3259 Other specified and unspecified retinal disorders 0.0001772 23.93 6.382 TTN rs192152102 2:178561261:G:A 2 178561261 G A 2:179425988 0.993206 1058 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Other/unspecified rheumatoid arthritis 0.000389 1.3569 0.3825 Metatarsalgia 1.691e-05 61.794 14.363 TTN rs3829746 2:178562809:T:C 2 178562809 T C 2:179427536 0.997256 0.276525 28192 73400 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 1.21e-09 0.1088 0.0179 0.0002849 -0.037 0.01 TTN rs185002960 2:178563069:C:T 2 178563069 C T 2:179427796 0.983998 9179 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system (other cancers excluded from controls) 0.000967 1.2632 0.3828 7.759e-05 0.527 0.133 TTN rs55634791 2:178563441:G:A 2 178563441 G A 2:179428168 0.991187 548 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cervicalgia 0.000533 1.4583 0.4211 TTN rs201158906 2:178563643:C:T 2 178563643 C T 2:179428370 0.992427 1976 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Any death 0.00123 0.312 0.0965 Bipolar affective disorders 0.00053 12.778 3.687 TTN rs754325718 2:178564615:G:C 2 178564615 G C 2:179429342 0.974454 0.000549827 0 202 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified acute lower respiratory infection 3.79e-05 3.6245 0.8798 TTN rs200771189 2:178564660:G:C 2 178564660 G C 2:179429387 0.987427 241 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Symptoms and signs involving emotional state 0.000603 7.1177 2.075 TTN rs3731746 2:178566270:G:A 2 178566270 G A 2:179430997 0.997177 0.167319 10538 50933 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 1.43e-09 0.129 0.0213 Other intervertebral disc disorders 0.0002794 -0.099 0.027 TTN rs56307213 2:178566349:C:G 2 178566349 C G 2:179431076 0.981273 8796 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Behavioural disorders (more controls excluded) 0.00104 1.0924 0.3332 Lesion of sciatic nerve 0.000342 4.149 1.158 TTN rs3731745 2:178566867:A:G 2 178566867 A G 2:179431594 0.998783 0.0512973 1048 17798 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 4.54e-08 0.4615 0.0844 AV-block 0.0003037 1.003 0.278 TTN rs12463674 2:178567458:A:G 2 178567458 A G 2:179432185 0.993163 85587 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vascular diseases of the intestine 0.000102 0.3282 0.0845 Coronary artery bypass grafting 0.0003352 0.09 0.025 TTN rs56018860 2:178568494:T:C 2 178568494 T C 2:179433221 0.999977 0.0513163 1044 17809 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 4.68e-08 0.4609 0.0844 AV-block 0.0002889 1.01 0.279 TTN rs3813246 2:178568853:T:C 2 178568853 T C 2:179433580 0.998783 0.0512973 1048 17798 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 4.54e-08 0.4615 0.0844 AV-block 0.0003037 1.003 0.278 TTN rs3813245 2:178569412:A:G 2 178569412 A G 2:179434139 0.998784 0.0513 1048 17799 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 4.54e-08 0.4615 0.0844 AV-block 0.0003037 1.003 0.278 TTN rs188085512 2:178569609:G:T 2 178569609 G T 2:179434336 0.998748 0.00779013 54 2808 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hereditary retinal dystrophy 4.07e-05 3.2428 0.7903 Hereditary retinal dystrophy 5.533e-05 40.958 10.159 TTN rs3813243 2:178569789:C:T 2 178569789 C T 2:179434516 0.992628 5191 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified COPD related to chronic (opportunist) infections 0.000184 2.0528 0.549 Hereditary retinal dystrophy 0.0003765 17.136 4.819 TTN rs744426 2:178571293:G:A 2 178571293 G A 2:179436020 0.997151 0.152757 8782 47339 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 1.18e-08 0.1258 0.0221 Other intervertebral disc disorders 6.271e-05 -0.119 0.03 TTN rs543318580 2:178571529:ATTG:A 2 178571529 ATTG A 2:179436256 0.988498 1226 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Tongue abnormality 0.000127 2.3146 0.604 Benign neoplasm: Brain, supratentorial 0.001013 83.158 25.301 TTN rs55762754 2:178572307:C:G 2 178572307 C G 2:179437034 0.996948 5138 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Other and unspecified follicular disorders 0.000204 1.3492 0.3632 Open wound of lower leg 0.0002492 4.527 1.236 TTN rs201804005 2:178572528:G:T 2 178572528 G T 2:179437255 0.977518 258 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Viral infections characterized by skin and mucous membrane lesions 0.00127 1.4871 0.4613 TTN rs56201325 2:178573201:T:C 2 178573201 T C 2:179437928 0.998784 3669 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Conduction disorders 0.000178 0.4807 0.1283 Coronary artery bypass grafting 0.0002565 2.046 0.56 TTN rs10164753 2:178574139:C:T 2 178574139 C T 2:179438866 0.999914 19868 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified Injury of muscle and tendon at shoulder and upper arm level 0.000336 -0.1716 0.0479 Femoral hernia 5.329e-05 1.976 0.489 TTN rs55837610 2:178574427:A:G 2 178574427 A G 2:179439154 0.982598 244 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Speech disturbances, not elsewhere classified 0.000841 4.8047 1.439 TTN rs55801134 2:178575436:C:G 2 178575436 C G 2:179440163 0.985175 15930 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Prurigo nodularis 0.00133 -0.7223 0.225 Respiratory disorders in diseases classified elsewhere 3.645e-05 7.737 1.874 TTN rs201043950 2:178576311:C:T 2 178576311 C T 2:179441038 0.994933 440 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1G;Inborn genetic diseases;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder 0.00118 4.4401 1.3688 Post-traumatic wound infection, not elsewhere classified 0.0002577 271.623 74.327 TTN rs72646885 2:178576568:T:C 2 178576568 T C 2:179441295 0.971743 1157 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Other behavioural and emotional disorders with onset usually occuring in childhood and adolescence 0.000902 1.9546 0.5888 Endocrine, nutritional and metabolic diseases 0.000435 -1.447 0.411 TTN rs55980498 2:178577205:G:A 2 178577205 G A 2:179441932 0.982902 2543 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Benign neoplasm: Parotid gland 0.000883 1.1358 0.3415 Lichen planus 0.0005649 12.833 3.722 TTN rs201567815 2:178577634:C:T 2 178577634 C T 2:179442361 0.999232 1852 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Other and unspecified hydrocephalus 0.000118 4.8186 1.2516 Other keratitis 0.0009251 10.641 3.212 TTN rs72646880 2:178578057:C:G 2 178578057 C G 2:179442784 0.980025 165 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Short bones of lower limb (other cancers excluded from controls) 0.000877 23.2426 6.9857 TTN rs375676529 2:178579593:C:T 2 178579593 C T 2:179444320 0.824132 32 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other strabismus 0.000607 6.5066 1.8979 TTN rs2303838 2:178580212:C:T 2 178580212 C T 2:179444939 0.997149 0.16813 10646 51123 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 1.27e-09 0.1292 0.0213 Other intervertebral disc disorders 0.0003824 -0.096 0.027 TTN rs72646869 2:178581654:C:T 2 178581654 C T 2:179446381 0.992796 6039 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Other anaemias 0.000403 0.305 0.0862 Other/unspecified cytomegaloviral diseases 0.0002192 22.026 5.96 TTN rs13021201 2:178584404:G:A 2 178584404 G A 2:179449131 0.994754 5512 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified COPD, early/later onset 0.00109 -0.2918 0.0894 Benign neoplasm: Conjunctiva (other cancers excluded from controls) 0.0009845 10.911 3.312 TTN rs2042996 2:178586693:G:A 2 178586693 G A 2:179451420 0.997769 0.275681 28028 73254 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 6.82e-10 0.1105 0.0179 0.0003594 -0.036 0.01 TTN rs200726948 2:178588055:G:A 2 178588055 G A 2:179452782 0.995173 334 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Atypical mycobacterium lung infection 0.000236 16.0852 4.3749 TTN rs72646850 2:178588702:G:A 2 178588702 G A 2:179453429 0.941016 0.002496 10 907 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Retinoschisis and retinal cysts 8.33e-05 5.1235 1.3021 Female genital prolapse 9.122e-05 2.949 0.754 TTN rs199895260 2:178589803:C:T 2 178589803 C T 2:179454530 0.998064 1615 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Benign neoplasm: Rectum, anus and anal canal 0.000702 0.8845 0.261 Sacroiliitis, not elsewhere classified 0.004306 24.228 8.487 TTN rs141973925 2:178590625:C:T 2 178590625 C T 2:179455352 0.998632 759 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm, without specification of site (other cancers excluded from controls) 0.000902 3.7435 1.1278 TTN rs200212521 2:178591004:C:G 2 178591004 C G 2:179455731 0.996992 1397 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Superficial injury of thorax 0.000745 1.0193 0.3022 Chronic ulcer of skin, not elsewhere classified 0.002065 43.884 14.245 TTN rs16866406 2:178592420:G:A 2 178592420 G A 2:179457147 0.997261 0.152417 8750 47246 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 8.05e-09 0.1273 0.0221 Other intervertebral disc disorders 6.673e-05 -0.119 0.03 TTN rs202076328 2:178595584:C:T 2 178595584 C T 2:179460311 0.975556 1805 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Primary familial hypertrophic cardiomyopathy Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.000861 -0.2679 0.0804 Postpartum care and examination 0.001965 6.649 2.148 TTN rs188185141 2:178597640:T:C 2 178597640 T C 2:179462367 0.955779 198 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dry age-related macular degeneration (includes geographic atrophy) 0.00014 3.7256 0.9785 TTN rs200001206 2:178597958:A:G 2 178597958 A G 2:179462685 0.965245 0.00078119 0 287 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertrophy of breast 2.45e-05 3.1278 0.7412 TTN rs1001238 2:178599800:T:C 2 178599800 T C 2:179464527 0.997761 0.277598 28424 73562 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 1.03e-09 0.1091 0.0179 0.0003807 -0.036 0.01 TTN rs72646809 2:178607496:A:G 2 178607496 A G 2:179472223 0.999228 0.0365581 540 12891 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Atrial fibrillation and flutter with reimbursement 8.13e-06 0.2439 0.0547 Childhood allergy (age < 16) 0.001251 1.227 0.38 TTN rs201358641 2:178607529:A:G 2 178607529 A G 2:179472256 0.973249 0.000645095 0 237 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter !!!Vapaa-ajan tapaturmat 9.15e-05 22.0033 5.6244 TTN rs2303832 2:178607565:T:A 2 178607565 T A 2:179472292 0.998666 0.0521084 1090 18054 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified;not specified AV-block 4.02e-08 0.4593 0.0837 AV-block 0.0004724 0.939 0.269 TTN rs201213901 2:178607935:G:A 2 178607935 G A 2:179472662 0.948783 0.000745806 0 274 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of porphyrin and bilirubin metabolism 9.53e-06 21.6296 4.8852 TTN rs16866412 2:178609941:G:A 2 178609941 G A 2:179474668 0.997958 12791 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Atrial fibrillation and flutter 0.000863 0.1406 0.0422 Lung diseases due to external agents 9.377e-05 1.582 0.405 TTN rs191539637 2:178611515:C:T 2 178611515 C T 2:179476242 0.982376 371 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.000548 3.3653 0.9737 TTN rs36043230 2:178612540:T:G 2 178612540 T G 2:179477267 0.96749 5151 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Asthma/COPD (KELA code 203) 0.000207 -0.2076 0.0559 Granuloma annulare 7.925e-05 34.42 8.721 TTN rs202094100 2:178613870:C:A 2 178613870 C A 2:179478597 0.97024 0.000740362 0 272 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gonarthrosis 6.51e-05 0.9702 0.243 TTN rs72677242 2:178614880:G:A 2 178614880 G A 2:179479607 0.99815 5844 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Symptoms and signs involving the nervous and musculoskeletal systems 0.000487 -0.2505 0.0718 Benign neoplasm: Tongue 0.001032 10.574 3.222 TTN rs368806005 2:178614924:C:T 2 178614924 C T 2:179479651 0.911754 57 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Focal epilepsy 0.000537 12.0157 3.4713 TTN rs201388509 2:178616891:C:G 2 178616891 C G 2:179481618 0.998488 738 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Skin of eyelid, including canthus (other cancers excluded from controls) 0.000438 1.5747 0.4479 TTN rs72677237 2:178617362:C:T 2 178617362 C T 2:179482089 0.978345 1146 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Other behavioural and emotional disorders with onset usually occuring in childhood and adolescence 0.000834 1.9786 0.5922 Endocrine, nutritional and metabolic diseases 0.0005048 -1.444 0.415 TTN rs72677232 2:178618210:C:T 2 178618210 C T 2:179482937 0.963217 408 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of fluid, electrolyte and acid-base balance 0.00038 1.648 0.4637 TTN rs72677231 2:178618267:G:A 2 178618267 G A 2:179482994 0.987656 299 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other bursitis of knee 0.000478 12.6723 3.6283 TTN rs730880239 2:178620299:C:T 2 178620299 C T 2:179485026 0.967762 208 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other headache syndromes 0.000764 1.4984 0.4452 TTN rs72677225 2:178621310:C:A 2 178621310 C A 2:179486037 0.996171 2213 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Other infective otitis externa 0.000885 1.2962 0.3899 Other congenital malformations of tongue, mouth and pharynx 0.000881 92.89 27.928 TTN rs17354992 2:178621496:C:T 2 178621496 C T 2:179486223 0.978483 9116 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Spondylolisthesis/Spondylolysis 0.000863 0.3414 0.1025 Myeloproliferative diseases (CML excluded) 0.002721 3.384 1.129 TTN rs6723526 2:178633315:T:C 2 178633315 T C 2:179498042 0.99209 0.100341 3800 33064 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bacterial pneumonia, not elsewhere classified 5.14e-05 -0.1298 0.032 Other systemic involvement of connective tissue 0.0007115 -0.317 0.094 TTN rs371995464 2:178633671:C:T 2 178633671 C T 2:179498398 0.809162 472 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Retinal detachment with retinal break 0.00115 2.1285 0.6547 Elevated blood glucose level 0.005181 42.663 15.261 TTN rs2288563 2:178634803:T:C 2 178634803 T C 2:179499530 0.998703 0.0521574 1126 18036 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 4.07e-08 0.459 0.0836 AV-block 0.0005004 0.931 0.267 TTN rs1474808353 2:178650214:TTTTCCTCTTCAGGAGCAA:T 2 178650214 TTTTCCTCTTCAGGAGCAA T 2:179514941 0.995817 0.0112334 102 4025 inframe_indel both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Presbycusis 1.49e-05 -0.9515 0.2197 Hereditary retinal dystrophy 0.0002246 21.523 5.833 TTN rs72650066 2:178650756:G:C 2 178650756 G C 2:179515483 0.998788 8995 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Other viral diseases 0.00135 -0.2748 0.0857 Benign lipomatous neoplasm of other sites/unspecified (other cancers excluded from controls) 0.0004941 2.69 0.772 TTN rs150223722 2:178652878:G:A 2 178652878 G A 2:179517605 0.901982 0.00188901 8 686 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J Ulcerative colitis ( strict definition, all Crohn cases excluded) 5.42e-05 1.8563 0.4599 Bursitis of shoulder 0.0008834 88.182 26.519 TTN rs192528655 2:178652905:G:A 2 178652905 G A 2:179517632 0.977593 626 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Kidney (other cancers excluded from controls) 0.001 4.6076 1.4007 TTN rs2562847 2:178653276:A:G 2 178653276 A G 2:179518003 0.998183 35418 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bronchitis 0.000862 0.0563 0.0169 Female infertility, tubal origin 0.000736 0.697 0.206 TTN rs2099130 2:178654252:A:G 2 178654252 A G 2:179518979 0.981072 375 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dependent personality disorder 0.000426 5.602 1.59 TTN rs201797790 2:178658723:C:T 2 178658723 C T 2:179523450 0.919178 528 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary coxarthrosis, bilateral 0.000455 1.1802 0.3366 TTN rs200021871 2:178658787:T:A 2 178658787 T A 2:179523514 0.945778 0.0503092 1014 17469 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified AV-block 1.41e-07 0.4729 0.0898 AV-block 0.0003453 1.128 0.315 TTN rs370765948 2:178661797:G:A 2 178661797 G A 2:179526524 0.889246 754 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the shoulder and upper arm 0.00205 0.4886 0.1585 TTN rs201474544 2:178662368:G:A 2 178662368 G A 2:179527095 0.91365 3758 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J Pain in throat and chest 0.000187 -0.2233 0.0598 Type 1 diabetes, wide definition, subgroup 2 0.0001197 29.602 7.695 TTN rs72650053 2:178663341:C:A 2 178663341 C A 2:179528068 0.998464 8994 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Other viral diseases 0.00136 -0.2746 0.0858 Benign lipomatous neoplasm of other sites/unspecified (other cancers excluded from controls) 0.0004863 2.699 0.774 TTN rs200840285 2:178663650:T:A 2 178663650 T A 2:179528377 0.985833 2818 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Polyarteritis nodosa and related conditions 0.000394 3.2269 0.9105 0.0001522 1.573 0.415 TTN rs2163008 2:178663651:C:T 2 178663651 C T 2:179528378 0.99857 38455 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bronchitis 0.000788 0.0545 0.0162 Other disorders of optic [2nd] nerve and visual pathways 0.000639 0.649 0.19 TTN rs200513156 2:178664032:T:C 2 178664032 T C 2:179528759 0.978875 290 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Other arterial embolism and thrombosis 0.000336 8.6604 2.4153 Melanocytic naevi of other and unspecified parts of face 0.001181 66.932 20.637 TTN rs202014478 2:178672473:C:T 2 178672473 C T 2:179537200 0.999564 775 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm, without specification of site (other cancers excluded from controls) 0.00104 3.622 1.1041 TTN rs368327166 2:178679958:C:CTCT 2 178679958 C CTCT 2:179544685 0.979521 5627 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Paroxysmal familial ventricular fibrillation 1;not specified Postpartum haemorrhage 0.000684 0.408 0.1201 Benign neoplasm: Rectum 0.001351 4.313 1.346 TTN rs36051007 2:178681132:C:T 2 178681132 C T 2:179545859 0.993805 0.370069 50524 85435 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vascular diseases of the intestine 5.48e-05 0.3413 0.0846 Coronary artery bypass grafting 0.0002022 0.094 0.025 TTN rs116676813 2:178684404:C:T 2 178684404 C T 2:179549131 0.99505 10431 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Vascular dementia (multiple infarctations) 0.00035 1.3773 0.3852 Routine general health check-up of defined subpopulation 2.856e-05 7.173 1.714 TTN rs72650031 2:178684680:G:A 2 178684680 G A 2:179549407 0.987626 0.00101255 0 372 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other bursitis of knee 5.54e-05 13.8286 3.4301 TTN rs146400809 2:178685261:G:A 2 178685261 G A 2:179549988 0.998502 1842 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormality of neuronal migration;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Other and unspecified hydrocephalus 0.000118 4.8262 1.2534 Other keratitis 0.001149 9.684 2.979 TTN rs2244492 2:178689578:C:T 2 178689578 C T 2:179554305 0.993318 91153 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinal breaks without detachment 0.00103 -0.1183 0.036 Sleep disorders (combined) 0.0001675 0.042 0.011 TTN rs2042995 2:178693639:T:C 2 178693639 T C 2:179558366 0.996896 0.251633 23328 69119 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter with reimbursement 3.31e-08 0.1318 0.0238 Cardiac arrhytmias, COPD co-morbidities 0.001202 0.055 0.017 TTN rs200831060 2:178695958:C:G 2 178695958 C G 2:179560685 0.873994 170 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of choroid and retina 0.000192 1.3366 0.3584 TTN rs72650011 2:178702613:G:A 2 178702613 G A 2:179567340 0.99965 2852 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;Primary dilated cardiomyopathy;not provided;not specified Malignant neoplasm of pancreas 0.000296 1.3839 0.3824 Atrophic disorders of skin 0.001541 8.506 2.686 TTN rs72650006 2:178704660:T:A 2 178704660 T A 2:179569387 0.981718 9946 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Medical abortion 0.0022 0.1568 0.0512 Open wound of lower leg 0.0008537 1.768 0.53 TTN rs4893852 2:178706721:A:G 2 178706721 A G 2:179571448 0.999927 19583 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified Injury of muscle and tendon at shoulder and upper arm level 0.0011 -0.1569 0.0481 MS-disease / Multiple Sclerosis 0.0001217 1.531 0.398 TTN rs72648998 2:178710784:C:T 2 178710784 C T 2:179575511 0.999385 8478 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Paroxysmal tachycardia 0.000124 0.3078 0.0802 conjunctival haemorrhage 0.002429 3.524 1.162 TTN rs72648994 2:178713271:T:C 2 178713271 T C 2:179577998 0.999663 8606 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Gastro-oesophageal reflux disease 0.000179 0.1885 0.0503 Persons encountering health services in other circumstances 0.001497 0.545 0.172 TTN rs199557654 2:178713285:T:C 2 178713285 T C 2:179578012 0.97646 214 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.000907 2.1386 0.6446 TTN rs13398235 2:178713977:G:A 2 178713977 G A 2:179578704 0.999908 19765 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified Injury of muscle and tendon at shoulder and upper arm level 0.000833 -0.1599 0.0479 MS-disease / Multiple Sclerosis 0.0001466 1.486 0.391 TTN rs12693164 2:178714366:T:C 2 178714366 T C 2:179579093 0.993685 0.0941049 3370 31203 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Paroxysmal tachycardia 7.56e-06 0.1899 0.0424 Spontaneous rupture of synovium and tendon 0.0006847 0.643 0.189 TTN rs72648987 2:178715250:G:A 2 178715250 G A 2:179579977 0.979479 8461 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Behavioural disorders (more controls excluded) 0.00105 1.1234 0.3428 Hypertension complicating pregnancy, childbirth, and the puerperium 0.0001814 1.068 0.285 TTN rs201945791 2:178715754:T:C 2 178715754 T C 2:179580481 0.991971 173 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cyst of kidney 0.000461 7.7549 2.214 TTN rs2562832 2:178717108:C:A 2 178717108 C A 2:179581835 0.995451 0.0544275 1184 18812 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 1.47e-07 0.4304 0.0819 AV-block 0.0002306 0.98 0.266 TTN rs13390491 2:178717600:C:T 2 178717600 C T 2:179582327 0.993564 0.0940559 3366 31189 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified Paroxysmal tachycardia 7.22e-06 0.1904 0.0424 Spontaneous rupture of synovium and tendon 0.0006748 0.644 0.189 TTN rs2627043 2:178717810:G:T 2 178717810 G T 2:179582537 0.995484 0.20505 15510 59823 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiac arrhytmias, COPD co-morbidities 3.47e-05 0.0601 0.0145 0.0001066 -0.052 0.013 TTN rs72648984 2:178718033:T:C 2 178718033 T C 2:179582760 0.97062 0.0138954 94 5011 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Other anaemias 3.52e-05 0.4018 0.0971 Other/unspecified cytomegaloviral diseases 0.000105 29.682 7.653 TTN rs201571580 2:178718042:C:A 2 178718042 C A 2:179582769 0.980363 277 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm of urinary organs 0.00121 5.8685 1.8127 TTN rs200103997 2:178718054:C:T 2 178718054 C T 2:179582781 0.896714 206 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of choroid and retina 0.000508 1.1021 0.317 TTN rs72648982 2:178718126:T:C 2 178718126 T C 2:179582853 0.981587 0.0185853 148 6680 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Ventral hernia 8.97e-05 0.4087 0.1044 0.0002217 3.139 0.85 TTN rs72648981 2:178718186:C:T 2 178718186 C T 2:179582913 0.980795 0.00335612 12 1221 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Other infective otitis externa 5.13e-05 2.3126 0.5711 Chromosomal abnormalities, not elsewhere classified 0.0006979 93.226 27.497 TTN rs16866465 2:178718769:T:G 2 178718769 T G 2:179583496 0.99356 0.0940668 3368 31191 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Paroxysmal tachycardia 7.31e-06 0.1902 0.0424 Spontaneous rupture of synovium and tendon 0.0006797 0.643 0.189 TTN rs201181445 2:178719817:A:G 2 178719817 A G 2:179584544 0.997112 255 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dementia in Alzheimer disease 0.000108 3.8616 0.9972 TTN rs200663337 2:178720165:A:G 2 178720165 A G 2:179584892 0.906549 204 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chondromalacia 0.00024 7.9947 2.1765 TTN rs201420077 2:178720187:C:G 2 178720187 C G 2:179584914 0.991685 167 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other heart diseases 0.000445 -0.8616 0.2453 TTN rs17452588 2:178720585:G:A 2 178720585 G A 2:179585312 0.970576 9120 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Spondylolisthesis/Spondylolysis 0.000775 0.3455 0.1028 0.001924 0.759 0.245 TTN rs72648970 2:178721877:C:G 2 178721877 C G 2:179586604 0.987102 11160 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Dislocation, sprain and strain of joint and ligaments of hip 0.000657 0.8396 0.2464 Burn and corrosion of wrist and hand 0.001342 4.405 1.374 TTN rs12693166 2:178722403:C:G 2 178722403 C G 2:179587130 0.99297 0.0941974 3382 31225 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Paroxysmal tachycardia 7.89e-06 0.1895 0.0424 Spontaneous rupture of synovium and tendon 0.0007439 0.635 0.188 TTN rs201394117 2:178723895:C:T 2 178723895 C T 2:179588622 0.985647 363 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified effects of external causes 0.000219 1.6744 0.453 TTN rs72648960 2:178724331:G:A 2 178724331 G A 2:179589058 0.999249 8992 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Polymyalgia rheumatica 0.00135 0.4325 0.1349 Benign lipomatous neoplasm of other sites/unspecified (other cancers excluded from controls) 0.0004735 2.717 0.777 TTN rs17355446 2:178724514:G:A 2 178724514 G A 2:179589241 0.999976 18846 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified Injury of muscle and tendon at shoulder and upper arm level 0.000691 -0.1663 0.049 Labour and delivery complicated by umbilical cord complications 0.0008477 1.895 0.568 TTN rs17355460 2:178725602:C:T 2 178725602 C T 2:179590329 0.982046 4055 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Guttate psoriasis 0.000136 2.6972 0.7069 Benign neoplasm: Pituitary gland, craniopharyngeal duct (other cancers excluded from controls) 0.0007132 12.896 3.81 TTN rs11888217 2:178728625:C:T 2 178728625 C T 2:179593352 0.999982 19556 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Injury of muscle and tendon at shoulder and upper arm level 0.00104 -0.1579 0.0481 MS-disease / Multiple Sclerosis 0.0001096 1.557 0.402 TTN rs370515485 2:178728746:C:G 2 178728746 C G 2:179593473 0.975757 161 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Placenta praevia 0.000373 8.1136 2.2798 TTN rs72648953 2:178728776:G:T 2 178728776 G T 2:179593503 0.995752 4194 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Urticaria 0.000117 0.424 0.11 Subarachnoid haemmorrhage 3.52e-06 13.944 3.006 TTN rs200359082 2:178729696:G:A 2 178729696 G A 2:179594423 0.877466 0.000356571 2 129 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Persons encountering health services for examination and investigation 4.8e-05 -0.7636 0.1878 TTN rs146983095 2:178730645:T:C 2 178730645 T C 2:179595372 0.997023 0.00670953 18 2447 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Hernia 7.54e-05 0.2719 0.0687 0.0006438 -1.086 0.318 TTN rs72648943 2:178731542:G:A 2 178731542 G A 2:179596269 0.97589 211 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of mineral metabolism 0.00106 4.5636 1.394 TTN rs72648942 2:178731827:T:C 2 178731827 T C 2:179596554 0.997757 1447 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of choroid 0.00276 3.4828 1.1637 TTN rs190636272 2:178732863:T:C 2 178732863 T C 2:179597590 0.897151 208 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of choroid and retina 0.000334 1.1274 0.3143 TTN rs72648937 2:178732873:C:T 2 178732873 C T 2:179597600 0.994722 1905 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified All anxiety disorders 0.000183 0.4386 0.1172 Personal history of certain other diseases 0.0001939 350.341 94.004 TTN rs72648929 2:178734746:C:G 2 178734746 C G 2:179599473 0.974433 386 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Other and unspecified anaemias 0.000396 1.3428 0.379 Headache 1.251e-06 6.408 1.322 TTN rs72648927 2:178734940:G:C 2 178734940 G C 2:179599667 0.99965 8991 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Habitual aborter 0.000219 1.3866 0.3752 Benign neoplasm: Rectum/anal canal icd-9 (other cancers excluded from controls) 0.0004461 15.7 4.471 TTN rs72648925 2:178735576:G:C 2 178735576 G C 2:179600303 0.943998 183 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Soft tissue disorders 0.000117 0.7772 0.2018 TTN rs72648923 2:178735748:C:T 2 178735748 C T 2:179600475 0.997813 5809 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Symptoms and signs involving the nervous and musculoskeletal systems 0.000516 -0.2501 0.072 Benign neoplasm: Tongue 0.001031 10.559 3.218 TTN rs2742347 2:178735921:C:T 2 178735921 C T 2:179600648 0.994923 0.0585103 1368 20128 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 8.26e-07 0.3858 0.0783 Other diseases of the digestive system 0.0008431 0.483 0.145 TTN rs1883085 2:178739433:T:G 2 178739433 T G 2:179604160 0.995223 0.0584477 1364 20109 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;not specified AV-block 7.3e-07 0.3881 0.0783 Other diseases of the digestive system 0.0007886 0.487 0.145 TTN rs2562829 2:178739639:T:G 2 178739639 T G 2:179604366 0.995223 0.0584477 1364 20109 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;not specified AV-block 7.32e-07 0.388 0.0783 Other diseases of the digestive system 0.0007886 0.487 0.145 TTN rs201437752 2:178740485:C:T 2 178740485 C T 2:179605212 0.952133 0.0010561 2 386 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of porphyrin and bilirubin metabolism 2.43e-06 18.8894 4.0068 TTN rs34618570 2:178740653:T:A 2 178740653 T A 2:179605380 0.997559 7195 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Other hearing loss 0.000316 0.3427 0.0952 Gluteal tendinitis 0.001312 9.516 2.962 TTN rs34070843 2:178740998:T:C 2 178740998 T C 2:179605725 0.957224 812 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.00102 0.8855 0.2695 TTN rs33971253 2:178741264:G:A 2 178741264 G A 2:179605991 0.961313 1449 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Nonhereditary hypogammaglobulinemia 0.000959 4.7106 1.4265 Memory loss 0.0001256 19.498 5.084 TTN rs2627037 2:178741811:G:A 2 178741811 G A 2:179606538 0.997019 37265 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bronchitis 0.000166 0.0621 0.0165 Female infertility, tubal origin 0.000381 0.695 0.196 TTN rs72648913 2:178746240:C:T 2 178746240 C T 2:179610967 0.998416 1594 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Special screening examination for infectious and parasitic diseases 0.000524 0.5536 0.1596 Sacroiliitis, not elsewhere classified 0.004306 24.228 8.487 TTN rs66677602 2:178746984:C:A 2 178746984 C A 2:179611711 0.995162 0.0584641 1368 20111 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified AV-block 7.49e-07 0.3877 0.0783 Other diseases of the digestive system 0.0007583 0.489 0.145 TTN rs200953966 2:178747207:G:A 2 178747207 G A 2:179611934 0.980652 1136 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Palmar fascial fibromatosis [Dupuytren] 0.000483 1.0706 0.3067 Pyogenic granuloma 0.0007746 104.501 31.086 TTN rs145581345 2:178747588:T:C 2 178747588 T C 2:179612315 0.904808 0.000138818 0 51 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of the skin and subcutaneous tissue 1.24e-06 1.8498 0.3815 TTN rs72648907 2:178747656:C:T 2 178747656 C T 2:179612383 0.981138 13585 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Convalescence 0.000536 -0.531 0.1534 Focal brain injury 0.001994 1.879 0.608 TTN rs149748934 2:178748452:G:A 2 178748452 G A 2:179613179 0.990337 270 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Distal myopathy Markesbery-Griggs type;not provided;not specified Injury of muscle and tendon at lower leg level 0.000973 2.3768 0.7206 Personal history of certain other diseases 0.0002556 245.412 67.115 TTN rs140909116 2:178748464:T:C 2 178748464 T C 2:179613191 0.97403 1337 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Migraine without aura 0.000627 0.9517 0.2783 2.51e-06 -1.598 0.339 TTN rs77419653 2:178748537:C:T 2 178748537 C T 2:179613264 0.996142 0.0375244 568 13218 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified AV-block 5.21e-07 0.4932 0.0983 Disorders of refraction and accommodation 0.0002292 1.055 0.286 TTN rs145919543 2:178748988:C:G 2 178748988 C G 2:179613715 0.951651 141 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute upper respiratory infections of multiple and unspecified sites 0.000255 1.284 0.3511 TTN rs72647902 2:178749277:C:A 2 178749277 C A 2:179614004 0.954867 81 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acne 0.00151 8.0577 2.5388 TTN rs144226338 2:178749421:T:C 2 178749421 T C 2:179614148 0.978994 163 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory bowel disease 0.00024 2.2598 0.6153 TTN rs922984 2:178751160:T:C 2 178751160 T C 2:179615887 0.997074 36843 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bronchitis 0.00019 -0.0619 0.0166 Bronchitis 0.0005567 -0.031 0.009 TTN rs7585334 2:178756224:C:T 2 178756224 C T 2:179620951 0.997065 36927 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bronchitis 0.00025 -0.0607 0.0166 Bronchitis 0.0006435 -0.031 0.009 TTN rs78535378 2:178756545:C:T 2 178756545 C T 2:179621272 0.998999 8823 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Other anxiety disorders 0.000856 -0.2068 0.062 Benign lipomatous neoplasm of other sites/unspecified (other cancers excluded from controls) 0.0003197 2.988 0.83 TTN rs72955213 2:178756776:C:T 2 178756776 C T 2:179621503 0.986753 9421 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Pain (limb, back, neck, head abdominally) 0.000726 0.0741 0.0219 Perioral dermatitis 0.001239 9.701 3.004 TTN rs2291310 2:178759031:C:T 2 178759031 C T 2:179623758 0.997064 36750 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bronchitis 0.000241 -0.061 0.0166 Bronchitis 0.0006593 -0.031 0.009 TTN rs34819099 2:178764191:C:T 2 178764191 C T 2:179628918 0.971749 0.00323364 8 1180 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Noise effects on inner ear 2.95e-05 3.1623 0.757 Peritonsillar abscess 0 23.921 0 TTN rs2291311 2:178764734:C:T 2 178764734 C T 2:179629461 0.997129 36748 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bronchitis 0.00023 -0.0612 0.0166 Bronchitis 0.0006315 -0.031 0.009 TTN rs4893853 2:178767769:T:C 2 178767769 T C 2:179632496 0.999798 18955 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Injury of muscle and tendon at shoulder and upper arm level 0.000244 -0.1796 0.049 Femoral hernia, unilateral 0.0001314 2.871 0.751 TTN rs72647894 2:178767871:C:T 2 178767871 C T 2:179632598 0.995579 2844 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Malignant neoplasm of pancreas (other cancers excluded from controls) 0.000282 1.3969 0.3846 Atrophic disorders of skin 0.001601 8.346 2.645 TTN rs2306636 2:178770209:C:T 2 178770209 C T 2:179634936 0.995071 0.0584641 1368 20111 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 8.05e-07 0.3864 0.0783 Other diseases of the digestive system 0.0007605 0.489 0.145 TTN rs33917087 2:178770234:C:A 2 178770234 C A 2:179634961 0.999069 8362 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Open wound of wrist and hand 0.000352 -0.2324 0.065 Corns and callosities 0.0001009 3.958 1.018 TTN rs56142888 2:178773134:C:G 2 178773134 C G 2:179637861 0.995105 0.0584232 1362 20102 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 7.29e-07 0.3883 0.0784 Other diseases of the digestive system 0.0007317 0.492 0.146 TTN rs146970027 2:178773533:T:C 2 178773533 T C 2:179638260 0.998265 0.00190262 2 697 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Later onset COPD 3.73e-05 1.7055 0.4136 TTN rs4894048 2:178773994:C:T 2 178773994 C T 2:179638721 0.998414 19230 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not provided;not specified Injury of muscle and tendon at shoulder and upper arm level 0.000284 -0.1764 0.0486 Femoral hernia, unilateral 0.0001547 2.776 0.734 TTN rs765019023 2:178774204:T:TA 2 178774204 T TA 2:179638931 0.864401 184 LC both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Diseases of external ear 0.000832 2.1797 0.6522 Unspecified urinary incontinence 0.002025 38.696 12.537 TTN rs189149543 2:178775823:G:A 2 178775823 G A 2:179640550 0.997935 0.010199 36 3711 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided Gestational diabetes (for exclusion) 9.12e-05 0.461 0.1178 Subarachnoid haemmorrhage 4.975e-05 12.628 3.113 TTN rs201581947 2:178776400:T:G 2 178776400 T G 2:179641127 0.952485 329 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of mineral metabolism 0.000815 3.7741 1.1274 TTN rs12476289 2:178777248:C:T 2 178777248 C T 2:179641975 0.995141 0.0584314 1364 20103 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified AV-block 7.44e-07 0.3879 0.0784 Other diseases of the digestive system 0.0007437 0.49 0.145 TTN rs72647876 2:178777862:C:G 2 178777862 C G 2:179642589 0.994477 0.0153625 118 5526 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified COPD related to chronic (opportunist) infections 4.88e-05 2.1541 0.5304 Hereditary retinal dystrophy 0.0002879 19.291 5.32 TTN rs36021856 2:178779048:C:T 2 178779048 C T 2:179643775 0.994653 21505 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Systemic connective tissue disorders 0.000224 -0.17 0.0461 Visual impairment including blindness (binocular or monocular) 0.0001328 1.367 0.358 TTN rs1552280 2:178779308:G:A 2 178779308 G A 2:179644035 0.997945 8179 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Visual disturbances and blindness 0.000324 -0.2267 0.0631 Visual disturbances 0.000357 -0.12 0.034 TTN rs10497520 2:178780128:T:C 2 178780128 T C 2:179644855 0.996759 53997 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma-related pneumonia 0.000372 -0.0498 0.014 Paroxysmal tachycardia 0.0004705 -0.065 0.019 TTN rs72647870 2:178781235:C:G 2 178781235 C G 2:179645962 0.995345 0.00443673 12 1618 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not provided;not specified Other disorders of eye and adnexa 4e-05 1.3036 0.3174 Follow-up examination after treatment for conditions other than malignant neoplasms 9.672e-08 5.38 1.009 TTN rs142951505 2:178782806:C:T 2 178782806 C T 2:179647533 0.993682 790 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;Primary dilated cardiomyopathy;not provided;not specified Dislocation, sprain and strain of joints and ligaments of elbow 0.000172 2.9077 0.7739 AV-block 0.0001811 311.923 83.313 TTN rs148269839 2:178782904:A:G 2 178782904 A G 2:179647631 0.875541 192 missense_variant both Likely benign (likely)Benign no assertion criteria provided no_Criteria Persons encountering health services in circumstances related to reproduction 0.000428 -0.7961 0.226 TTN rs35813871 2:178785681:G:A 2 178785681 G A 2:179650408 0.990849 43663 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other secondary coxarthrosis 0.00207 0.354 0.1149 Dysphagia 3.466e-05 0.315 0.076 TTN rs72647851 2:178793448:C:T 2 178793448 C T 2:179658175 0.998474 8360 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified Fitting and adjustment of other devices 0.000586 0.3202 0.0932 0.0001858 -0.526 0.141 TTN rs16866538 2:178795185:G:A 2 178795185 G A 2:179659912 0.996853 0.043401 794 15151 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Myopathy, early-onset, with fatal cardiomyopathy;not specified Paroxysmal tachycardia 4.94e-05 0.2449 0.0603 1.245e-05 -0.257 0.059 TTN rs185921345 2:178802144:C:T 2 178802144 C T 2:179666871 0.999638 8822 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dilated cardiomyopathy 1G;Limb-girdle muscular dystrophy, type 2J;not specified Other anxiety disorders 0.000702 -0.2102 0.062 Benign lipomatous neoplasm of other sites/unspecified (other cancers excluded from controls) 0.0002868 3.062 0.844 TTN rs138750421 2:178802206:C:G 2 178802206 C G 2:179666933 0.990002 153 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other heart diseases 0.000256 -0.9214 0.252 TTN rs35683768 2:178802255:C:A 2 178802255 C A 2:179666982 0.997776 0.0115328 104 4133 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1G;Distal myopathy Markesbery-Griggs type;Hereditary myopathy with early respiratory failure;Hypertrophic cardiomyopathy;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2J;Myopathy, early-onset, with fatal cardiomyopathy;not specified COPD related to chronic (opportunist) infections 5.04e-06 3.0353 0.6652 Hereditary retinal dystrophy 0.0002473 20.687 5.644 CCDC141 rs145610810 2:178834397:C:T 2 178834397 C T 2:179699124 0.980226 1654 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD Co-morbidites, CVD and metabolic diseases 0.000571 -0.2383 0.0692 Ovarian cyst 2.684e-06 3.46 0.737 CCDC141 rs149198764 2:178853574:T:A 2 178853574 T A 2:179718301 0.995202 2561 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other soft tissue disorders, not elsewhere classified 7e-04 0.2676 0.0789 Biomechanical lesions, not elsewhere classified 0.002218 42.498 13.891 CCDC141 rs141939661 2:178869212:C:T 2 178869212 C T 2:179733939 0.945938 1899 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizophrenia or delusion (more controls excluded) 7e-04 0.6908 0.2038 Chronic hepatitis NAS 0.002721 34.991 11.673 CCDC141 rs114129666 2:178886758:T:G 2 178886758 T G 2:179751485 0.932134 2521 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Leiomyoma of uterus (other cancers excluded from controls) 0.000842 0.2878 0.0862 Benign neoplasm of other and unspecified female genital organs 0.0003727 14.289 4.015 ZNF385B rs148987445 2:179769508:C:A 2 179769508 C A 2:180634235 0.985857 0.00142901 4 521 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylolisthesis/Spondylolysis 3.91e-05 2.202 0.5354 Other lack of coordination 0.0003737 207.145 58.22 ITGA4 rs1143675 2:181529581:T:C 2 181529581 T C 2:182394308 0.969366 2019 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Anankastic personality disorder 0.00111 1.9171 0.5877 Open wound of head 0.0003961 3.715 1.049 CERKL rs61750041 2:181604076:T:G 2 181604076 T G 2:182468803 0.99917 64057 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fibrosis and chirrhosis of liver 0.000808 0.2411 0.072 Follow-up examination after treatment for conditions other than malignant neoplasms 9.58e-05 0.1 0.026 CERKL rs201186440 2:181656814:C:A 2 181656814 C A 2:182521541 0.993898 753 pLoF unknown Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Adhesive capsulitis of shoulder 0.000606 1.2162 0.3547 CERKL rs141389059 2:181656850:C:T 2 181656850 C T 2:182521577 0.999554 3528 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Varicose veins of other sites 0.000275 0.9863 0.2711 ILD-related co-morbidities 0.0001561 1.022 0.27 NEUROD1 rs8192556 2:181678271:G:T 2 181678271 G T 2:182542998 0.928884 1328 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maturity onset diabetes mellitus in young;Monogenic diabetes;not specified Other disorders involving the immune mechanism, not elsewhere classified 0.000431 3.1319 0.8896 Benign neoplasm: Skin of trunk 0.001682 44.991 14.323 NEUROD1 rs1801262 2:181678728:T:C 2 181678728 T C 2:182543455 0.999919 83722 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyuria 0.00074 0.1013 0.03 6.209e-05 0.027 0.007 FRZB rs7775 2:182834857:G:C 2 182834857 G C 2:183699584 0.953161 11260 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Osteoarthritis Other ill-defined and unspecified causes of mortality 0.000495 0.984 0.2825 Abnormal findings in nipple discharge synovial fluid wound secretions 0.001465 8.858 2.784 FRZB rs112094045 2:182834955:A:G 2 182834955 A G 2:183699682 0.959751 2370 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertensive diseases (excluding secondary) 0.000371 -0.2494 0.0701 Malignant neoplasm of eye, brain and central nervous system 0.0003855 15.497 4.366 FRZB rs288326 2:182838608:G:A 2 182838608 G A 2:183703336 0.989488 20813 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Osteoarthritis Hypertensive diseases (excluding secondary) 0.000588 -0.0822 0.0239 Other acquired deformities of musculoskeletal system and connective tissue 0.0001355 1.703 0.446 ZNF804A rs146785509 2:184936957:A:T 2 184936957 A T 2:185801684 0.98991 436 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chromosomal abnormalities, not elsewhere classified 0.00157 8.2839 2.6207 ZNF804A rs61739288 2:184937029:G:A 2 184937029 G A 2:185801756 0.997956 14568 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified malignant neoplasm of female genital organs (other cancers excluded from controls) 0.000415 -0.235 0.0666 Benign neoplasm: Choroid (other cancers excluded from controls) 6.52e-05 3.297 0.826 FSIP2 rs142675481 2:185796083:G:A 2 185796083 G A 2:186660810 0.909685 324 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other, unspecified and serous retinal detachments 0.00103 6.7521 2.0577 FAM171B rs73979354 2:186740273:G:A 2 186740273 G A 2:187605000 0.974855 0.00753427 18 2750 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute pharyngitis 5.04e-05 0.8966 0.2212 Benign neoplasm: Middle ear, nasal cavity and accessory sinuses (other cancers excluded from controls) 6.008e-05 32.201 8.025 ZSWIM2 rs142958653 2:186833202:T:C 2 186833202 T C 2:187697929 0.882531 2467 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other postsurgical states 0.000972 1.2796 0.3879 Secondary malignant neoplasm of other and unspecified sites 0.000267 179.367 49.204 COL3A1 rs35795890 2:188997207:C:A 2 188997207 C A 2:189861933 0.9962 0.00267565 10 973 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, type 4;Thoracic aortic aneurysm and aortic dissection;not provided;not specified Torticollis 5.69e-05 5.4767 1.3605 Pain in joint 0 6.556 0 COL3A1 rs41263773 2:188999297:G:A 2 188999297 G A 2:189864023 0.981372 3165 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, type 4;Familial aortopathy;Thoracic aortic aneurysm and aortic dissection;not specified Unspecified chronic bronchitis 0.000151 1.6816 0.4438 0.0001205 23.731 6.172 COL3A1 rs1800255 2:188999354:G:A 2 188999354 G A 2:189864080 0.998934 70727 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aortic aneurysm 0.000236 -0.1425 0.0387 0.00024 0.343 0.093 COL3A1 rs201220788 2:189005437:G:A 2 189005437 G A 2:189870163 0.985862 0.00209588 6 764 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, type 4;not specified Other congenital malformations 9.15e-05 2.4305 0.6213 Other joint disorders 0 3.315 0 COL3A1 rs2271683 2:189009011:A:G 2 189009011 A G 2:189873737 0.98915 826 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autism spe 0.00116 4.3296 1.3325 COL3A1 rs111840783 2:189010292:A:G 2 189010292 A G 2:189875018 0.842382 188 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.00166 5.191 1.6501 COL5A2 rs62184175 2:189039508:G:C 2 189039508 G C 2:189904234 0.926676 1289 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not provided;not specified Hallux valgus (acquired) 0.000645 0.569 0.1668 Unspecified jaundice 0.001012 75.157 22.864 COL5A2 rs116298748 2:189053896:G:A 2 189053896 G A 2:189918622 0.998814 9950 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified Trigeminal neuralgia 0.000184 0.6872 0.1837 Kela-cod for severe mental illness 0.0001432 1.401 0.368 COL5A2 rs139189200 2:189061582:G:A 2 189061582 G A 2:189926308 0.99447 4455 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ehlers-Danlos syndrome, classic type;Thoracic aortic aneurysm and aortic dissection;not provided Unspecified mental disorder 0.000422 0.364 0.1032 Other secondary coxarthrosis 0.0005882 13.454 3.915 COL5A2 rs145404046 2:189062866:G:A 2 189062866 G A 2:189927592 0.986411 925 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Connective tissue disorder;Ehlers-Danlos syndrome, classic type;not provided;not specified Fracture of skull and facial bones 0.00019 1.1554 0.3096 Localized swelling, mass and lump of skin and subcutaneous tissue 0.001559 10.421 3.294 COL5A2 rs35852101 2:189066418:A:G 2 189066418 A G 2:189931144 0.998813 9946 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not provided;not specified Trigeminal neuralgia 0.000181 0.688 0.1838 Kela-cod for severe mental illness 0.0001568 1.43 0.378 COL5A2 rs35830636 2:189068038:G:A 2 189068038 G A 2:189932764 0.978732 15921 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not provided;not specified Aortic aneurysm 0.000122 0.3172 0.0826 Burn and corrosion of ankle and foot 0.000827 5.212 1.559 COL5A2 rs145850743 2:189068227:G:A 2 189068227 G A 2:189932953 0.986994 260 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other hearing loss 0.000135 2.2768 0.5965 COL5A2 rs76148000 2:189075416:T:G 2 189075416 T G 2:189940142 0.947096 3409 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not provided;not specified Other otitis externa (chronic) 0.000149 1.1797 0.3111 0.0003592 7.35 2.06 COL5A2 rs770598613 2:189110224:C:G 2 189110224 C G 2:189974950 0.948737 240 pLoF dominant Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Ascending colon 0.000345 3.9862 1.1138 ANKAR rs143926631 2:189741426:A:C 2 189741426 A C 2:190606152 0.971492 1125 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Systemic lupus erythematosus 0.00026 2.7373 0.7495 Other disorders of male genital organs 0.001896 48.651 15.663 OSGEPL1 rs568165204 2:189752685:T:TA 2 189752685 T TA 2:190617411 0.973144 1282 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute sinusitis 0.000546 0.4727 0.1367 Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.0002124 9.091 2.454 PMS1 rs143265397 2:189795811:G:A 2 189795811 G A 2:190660537 0.99329 719 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute and transient psychotic disorders 0.0016 1.421 0.4504 PMS1 rs2066459 2:189843986:G:A 2 189843986 G A 2:190708712 0.992905 1390 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary breast and ovarian cancer syndrome;Lynch syndrome;not specified Alcohol related diseases, tilastokeskus definition, death only 0.000764 1.7174 0.5103 0 3.204 0 MSTN rs143242500 2:190060135:A:G 2 190060135 A G 2:190924861 0.993706 3665 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myostatin-related muscle hypertrophy Vitamin B12 deficiency anaemia 0.0015 0.6252 0.1969 Malignant neoplasm of cervix uteri (other cancers excluded from controls) 0.0004062 6.153 1.74 MSTN rs1805086 2:190060351:T:C 2 190060351 T C 2:190925077 0.997996 1006 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Muscle hypertrophy;Myostatin-related muscle hypertrophy Benign lipomatous neoplasm (other cancers excluded from controls) 0.000794 0.809 0.2411 Haemorrhage from respiratory passages 1.586e-05 6.811 1.578 HIBCH rs1058180 2:190296896:T:C 2 190296896 T C 2:191161622 0.999218 48030 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other ulcerative colitis 0.000833 -0.2682 0.0802 Other diabetic retinopathy 0.0004005 0.143 0.04 HIBCH rs291466 2:190319749:A:G 2 190319749 A G 2:191184475 0.999935 0.615929 139348 86937 start_lost recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes without complications 4.9e-06 -0.0736 0.0161 Type 2 diabetes, wide definition 0.0001222 -0.041 0.011 STAT1 rs41473544 2:190995209:C:T 2 190995209 C T 2:191859935 0.967556 2023 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Familial Atypical Mycobacteriosis, Autosomal Dominant;Immunodeficiency 31C;Immunodeficiency 31a;Immunodeficiency 31a;Mycobacterial and viral infections, susceptibility to, autosomal recessive;not provided Medial epicondylitis 0.000865 1.7331 0.5203 Hernia of abodminal wall, postoperative 0.0009778 9.727 2.95 DNAH7 rs114621989 2:195738049:G:A 2 195738049 G A 2:196602773 0.994515 5104 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Stomach 0.000672 0.696 0.2047 Endocrine, nutritional and metabolic diseases 0.001964 -0.614 0.198 DNAH7 rs116352827 2:195756164:T:C 2 195756164 T C 2:196620888 0.993389 260 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursopathies 0.000722 2.5006 0.7396 DNAH7 rs114909276 2:195777963:C:T 2 195777963 C T 2:196642687 0.992886 261 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursopathies 0.000726 2.498 0.7392 DNAH7 rs111705343 2:195794357:A:G 2 195794357 A G 2:196659081 0.996346 2206 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Monoplegia 0.00108 3.0133 0.9218 Cough 0.000949 4.301 1.301 DNAH7 rs116024781 2:195858800:C:T 2 195858800 C T 2:196723524 0.993518 262 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursopathies 0.000728 2.4935 0.738 DNAH7 rs146463525 2:195864207:C:T 2 195864207 C T 2:196728931 0.961083 740 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyarhtrosis 0.000843 1.3632 0.4083 DNAH7 rs75859635 2:195873641:T:C 2 195873641 T C 2:196738365 0.999325 0.036735 468 13028 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Allergic rhinitis 4.78e-05 -0.2383 0.0586 0.0004213 -0.264 0.075 DNAH7 rs62623377 2:195875800:T:C 2 195875800 T C 2:196740524 0.993563 0.0285475 348 10140 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Disorders related to short gestation and low birth weight, not elsewhere classified 2.53e-05 1.5095 0.3584 Ulcerative ileocolitis 8.638e-05 4.106 1.046 DNAH7 rs62623593 2:195884788:T:C 2 195884788 T C 2:196749512 0.995162 0.0292307 358 10381 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Disorders related to short gestation and low birth weight, not elsewhere classified 3.22e-05 1.4746 0.3547 Ulcerative ileocolitis 9.94e-05 3.981 1.023 DNAH7 rs573013205 2:195895084:A:AT 2 195895084 A AT 2:196759808 0.999641 0.0105855 58 3831 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of intestine 8.49e-05 1.003 0.2552 Entropion and trichiasis of eyelid 1.039e-05 8.536 1.936 DNAH7 rs148270536 2:195900374:G:A 2 195900374 G A 2:196765098 0.966104 2259 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other endocrine disorders 0.000643 1.3578 0.3978 Immunodeficiency with predominantly antibody defects 0.0001312 26.091 6.823 DNAH7 rs62623378 2:195957280:A:G 2 195957280 A G 2:196822004 0.995697 34933 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified diabetic retinopathy 0.000225 -0.2345 0.0636 Acute nephritic syndrome 0.0003084 1.192 0.33 DNAH7 rs10931715 2:195987187:G:A 2 195987187 G A 2:196851911 0.996512 80562 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcoholic gastritis 0.000354 0.3784 0.1059 0.0001522 0.024 0.006 DNAH7 rs146788086 2:195988043:C:T 2 195988043 C T 2:196852767 0.929545 244 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malnutrition 0.00135 14.4161 4.4973 DNAH7 rs201322560 2:196000783:A:G 2 196000783 A G 2:196865507 0.98879 6606 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pediculosis, acariasis and other infestations 0.000375 0.8573 0.241 Presence of cardiac and vascular implants and grafts 0.0002288 1.958 0.531 DNAH7 rs144390858 2:196001709:A:C 2 196001709 A C 2:196866433 0.958454 3259 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Diabetic maculopathy 0.00166 -0.6587 0.2094 Osteopathies and chondropathies 0.0009625 2.921 0.885 HECW2 rs61752162 2:196318608:C:T 2 196318608 C T 2:197183332 0.93147 2137 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other nutritional anaemias 0.000136 4.7453 1.2438 Right bundle-branch block 0.0001199 26.101 6.786 HECW2 rs202205403 2:196318670:C:G 2 196318670 C G 2:197183394 0.939774 1509 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatitis due to ingested food 0.00111 2.5796 0.7907 Gestational diabetes (for exclusion) 0.001081 6.69 2.047 HECW2 rs370940936 2:196319543:ACTC:A 2 196319543 ACTC A 2:197184267 0.976841 0.00935523 34 3403 inframe_indel dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lack of expected normal physiological development 7.79e-05 2.1188 0.5363 Hydatidiform mole 0.001312 66.427 20.672 PGAP1 rs150893861 2:196848023:A:G 2 196848023 A G 2:197712747 0.991701 1467 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental retardation, autosomal recessive 42 Urehtritis and urethral syndrome 0.000271 3.4557 0.949 Melanocytic naevi of other and unspecified parts of face 0.001628 54.663 17.349 PGAP1 rs62185645 2:196870955:G:C 2 196870955 G C 2:197735679 0.988648 2002 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental retardation, autosomal recessive 42;not provided;not specified Hidradenitis suppurativa 0.000102 2.836 0.73 0.001464 60.556 19.032 HSPD1 rs41265953 2:197487080:C:G 2 197487080 C G 2:198351804 0.981045 15718 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;Spastic paraplegia, autosomal dominant;not specified Pain in thoracic spine 0.000998 0.2694 0.0819 0.0006777 1.676 0.493 SPATS2L rs192861441 2:200439125:G:A 2 200439125 G A 2:201303848 0.985044 842 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tobacco use 0.000569 4.2108 1.2219 Corns and callosities 0.001891 46.723 15.039 KCTD18 rs565245989 2:200490214:AGGCGCGGT:A 2 200490214 AGGCGCGGT A 2:201354937 0.943126 0.00187268 4 684 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute appendicitis, with complications 4.73e-05 1.4013 0.3444 NDUFB3 rs144513268 2:201078901:C:T 2 201078901 C T 2:201943624 0.98688 608 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other bacterial diseases 0.000385 0.5247 0.1478 CASP10 rs80358239 2:201209363:A:T 2 201209363 A T 2:202074086 0.994295 1907 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autoimmune lymphoproliferative syndrome, type 2A Hypermobility syndrome 0.000481 1.6583 0.475 Other bursal cyst 0.0006543 121.738 35.721 CASP10 rs13010627 2:201209375:G:A 2 201209375 G A 2:202074098 0.986927 19828 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autoimmune lymphoproliferative syndrome;Autoimmune lymphoproliferative syndrome type 2;Autoimmune lymphoproliferative syndrome, type 2A Pneumonia due to other infectious organisms, not elsewhere classified 0.000267 0.7523 0.2064 Dorsopathies 0.0009493 -0.176 0.053 CASP10 rs17860405 2:201209484:A:G 2 201209484 A G 2:202074207 0.99312 0.0630913 1520 21659 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autoimmune lymphoproliferative syndrome;Autoimmune lymphoproliferative syndrome type 2;Autoimmune lymphoproliferative syndrome, type 2A;Autoimmune lymphoproliferative syndrome, type 2A Acute lymphadenitis 4.92e-05 -0.4293 0.1058 Other pulmonary heart/vessel disease 0.0004722 1.804 0.516 CASP10 rs13006529 2:201217736:T:A 2 201217736 T A 2:202082459 0.992422 91956 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 0.000243 -0.0639 0.0174 Weight loss 2.458e-05 0.175 0.042 CASP8 rs3769824 2:201258233:T:C 2 201258233 T C 2:202122956 0.983297 23078 start_lost both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified nail disorders 0.000708 0.8519 0.2516 Other and unspecified tonssillitis 0.0008936 0.352 0.106 CASP8 rs3769823 2:201258272:A:G 2 201258272 A G 2:202122995 0.994704 0.653968 156938 83322 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 7.66e-12 -0.1248 0.0182 Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 1.618e-09 -0.075 0.012 CASP8 rs1045485 2:201284866:G:C 2 201284866 G C 2:202149589 0.999819 34814 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amblyopia ex anopsia 0.000585 0.3993 0.1161 Other anxiety disorders 0.0002307 0.244 0.066 TMEM237 rs73989521 2:201626089:C:A 2 201626089 C A 2:202490812 0.99975 7191 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;not specified Postprocedural disorders of nervous system 0.000177 0.7046 0.1879 Bacterial, viral and other infectious agents 0.000416 3.938 1.116 TMEM237 rs199624987 2:201636846:C:T 2 201636846 C T 2:202501569 0.986644 1097 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pre-existing hypertension complicating pregnancy, childbirth and the puerperium 0.00112 1.5838 0.4861 Other bursal cyst 0.0003364 215.914 60.219 ALS2 rs61757691 2:201710994:T:C 2 201710994 T C 2:202575717 0.963671 0.00168215 10 608 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter ALS2-Related Disorders;Amyotrophic Lateral Sclerosis, Recessive;Infantile-onset ascending hereditary spastic paralysis;not specified Epidural haemorrhage 1.7e-05 12.7529 2.9648 Spondylopathies 3.651e-05 3.515 0.851 ALS2 rs1057519209 2:201733356:TCAGTATTTC:T 2 201733356 TCAGTATTTC T 2:202598079 0.935066 0.00086557 0 318 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 2 diabetes with coma 4.6e-05 2.9552 0.7252 ALS2 rs202219507 2:201733377:T:A 2 201733377 T A 2:202598100 0.969007 403 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Other and unspecified vascular occlusions 0.00114 2.5788 0.7927 ALS2 rs3219156 2:201760892:C:T 2 201760892 C T 2:202625615 0.996652 0.921685 312160 26456 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholelithiasis 9.07e-05 0.0971 0.0248 Cholelithiasis 8.167e-05 0.052 0.013 ALS2 rs3219154 2:201761714:T:C 2 201761714 T C 2:202626437 0.999263 8544 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter ALS2-Related Disorders;Amyotrophic Lateral Sclerosis, Recessive;Infantile-onset ascending hereditary spastic paralysis;not provided;not specified Persons encountering health services for specific procedures and health care 0.000179 0.1364 0.0364 Postmenopausal bleeding 5.863e-05 1.946 0.484 FZD7 rs34908164 2:202035234:G:A 2 202035234 G A 2:202899957 0.970601 952 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dysphagia 0.00114 0.9678 0.2974 BMPR2 rs199915496 2:202555431:A:G 2 202555431 A G 2:203420154 0.97812 273 missense_variant dominant Uncertain significance VUS no assertion criteria provided no_Criteria Acute bronchitis 0.000188 1.4504 0.3884 BMPR2 rs2228545 2:202555989:G:A 2 202555989 G A 2:203420712 0.999277 8890 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary pulmonary hypertension;not specified Parkinson's disease, strict definition 0.000335 0.4409 0.1229 Other infective otitis externa 0.0005003 3.744 1.076 BMPR2 rs146027217 2:202559716:G:T 2 202559716 G T 2:203424439 0.915815 82 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinoschisis and retinal cysts 0.00186 16.052 5.1584 CARF rs115268453 2:202952574:C:T 2 202952574 C T 2:203817297 0.966493 494 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other demyelinating diseases of the central nervous system 0.000857 3.7989 1.1395 NBEAL1 rs2086833 2:203116045:A:C 2 203116045 A C 2:203980768 0.996216 914 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other postsurgical states 0.000165 3.3102 0.8786 Conjunctivitis (acute, non atopic) 0.0001448 21.549 5.671 NBEAL1 rs189753012 2:203130355:G:A 2 203130355 G A 2:203995078 0.983626 1962 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Age-related macular degeneration (whether dry or wet) 0.000436 0.7116 0.2023 Toxic effect of other and unspecified substances 0.0001892 350.65 93.933 NBEAL1 rs114408639 2:203193834:C:G 2 203193834 C G 2:204058557 0.976183 2821 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed disorders of conduct and emotions 0.000715 1.7143 0.5067 Benign neoplasm of male genital organs 0.003913 25.717 8.914 NBEAL1 rs180771101 2:203193902:T:G 2 203193902 T G 2:204058625 0.962505 1046 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Visual field defects 0.000834 1.6193 0.4847 Haemangioma, any site 0.001759 51.512 16.467 NBEAL1 rs200336521 2:203202685:A:G 2 203202685 A G 2:204067408 0.997914 0.00515803 20 1875 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coronary revascularization (ANGIO or CABG) 5.47e-06 0.5779 0.1271 Other benign neoplasms of connective and other soft tissue 0.000524 14.009 4.039 NBEAL1 rs182855092 2:203208712:G:A 2 203208712 G A 2:204073435 0.9829 2963 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of rectosigmoid junction 0.000254 2.74 0.7491 Melanocytic naevi of other and unspecified parts of face 0.0008977 11.077 3.336 CYP20A1 rs142547646 2:203296499:G:A 2 203296499 G A 2:204161222 0.997404 4854 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endovascular or surgical operations to intracerebral aneurysms 0.000526 1.016 0.293 Viral hepatitis 0.0002547 7.372 2.016 CTLA4 rs231775 2:203867991:A:G 2 203867991 A G 2:204732714 0.999974 0.518705 99544 91022 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism,other/unspecified 3.24e-14 0.0909 0.012 Hypothyroidism, drug reimbursement 6.53e-09 0.107 0.018 NRP2 rs79750907 2:205725930:C:T 2 205725930 C T 2:206590654 0.985063 440 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ptosis of eyelid 0.000768 2.7912 0.8298 NRP2 rs151124318 2:205726054:A:T 2 205726054 A T 2:206590778 0.964125 10392 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Foreign body on external eye 0.000582 0.3478 0.1011 Dysplasia of cervi uteri 0.0003151 1.233 0.342 NRP2 rs114144673 2:205727900:C:T 2 205727900 C T 2:206592624 0.958048 0.00256949 12 932 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Hirschsprung disease 1 Mycoses 9.2e-05 1.0873 0.278 Diffuse brain injury 0.003466 26.55 9.083 INO80D rs144598064 2:206009583:T:C 2 206009583 T C 2:206874307 0.995024 5404 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acquired haemolytic anaemia 0.00118 1.4429 0.4449 Isolated proteinuria 0.0009525 10.954 3.315 INO80D rs144619437 2:206056266:C:T 2 206056266 C T 2:206920990 0.949164 1214 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammation of lacrimal passages (acute and unspecified) 0.000208 4.7706 1.2862 Other noninflammatory disorders of vulva and perineum 0.0002521 14.48 3.956 NDUFS1 rs78042826 2:206138586:G:C 2 206138586 G C 2:207003310 0.982303 973 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Maternal care for other known or suspected fetal problems 0.000104 1.0998 0.2833 ZDBF2 rs113954798 2:206304914:A:G 2 206304914 A G 2:207169638 0.998104 0.00100983 2 369 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behavioural disorders (more controls excluded) 6.67e-06 14.4744 3.2136 ZDBF2 rs78386861 2:206306378:G:A 2 206306378 G A 2:207171102 0.985943 3413 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of cervix uteri (other cancers excluded from controls) 0.00014 2.2875 0.6007 Unknown and unspecified causes of morbidity 0.0006528 10.883 3.193 ZDBF2 rs192597586 2:206306587:C:T 2 206306587 C T 2:207171311 0.930323 268 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Extrapyramidal and movement disorders 0.000478 1.917 0.5488 ZDBF2 rs201802013 2:206310646:C:T 2 206310646 C T 2:207175370 0.989582 1401 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of urethra and urinary system 0.000332 0.4104 0.1143 Other neurotic disorders 0.0005693 125.1 36.305 ZDBF2 rs36095066 2:206310752:G:T 2 206310752 G T 2:207175476 0.992543 3635 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of appendix 0.002 2.2928 0.7418 Injuries to the elbow and forearm 0.0009062 2.195 0.662 ADAM23 rs61753552 2:206445411:A:G 2 206445411 A G 2:207310135 0.962577 0.000577047 0 212 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory disease of uterus 6.28e-05 3.8012 0.9498 ADAM23 rs112012170 2:206445465:T:G 2 206445465 T G 2:207310189 0.991586 0.00110238 0 405 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute nephritic syndrome 7.36e-05 8.6289 2.1766 ADAM23 rs113518350 2:206596141:C:G 2 206596141 C G 2:207460865 0.932092 132 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes mellitus 0.000148 1.1287 0.2975 DYTN rs534558800 2:206663253:T:TCC 2 206663253 T TCC 2:207527977 0.971877 673 pLoF unknown not provided not_provided no assertion provided none Loose body in joint 0.00134 4.0857 1.2734 Other diseases of upper respiratory tract 0 2.948 0 FASTKD2 rs147727753 2:206766722:G:C 2 206766722 G C 2:207631446 0.946456 514 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Depression medications 0.000611 -0.5193 0.1515 FASTKD2 rs3762568 2:206766737:G:A 2 206766737 G A 2:207631461 0.999328 20828 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency;not provided Other obstetric trauma 0.000192 0.4956 0.1329 Primary angle-closure glaucoma 0.0001904 1.834 0.492 FASTKD2 rs141447598 2:206766842:A:G 2 206766842 A G 2:207631566 0.989974 1273 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Dorsalgia 0.000398 -0.3359 0.0949 Asthma 0 3.721 0 CRYGD rs150318966 2:208121822:C:T 2 208121822 C T 2:208986546 0.992614 758 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cataract Asthma, hospital admissions , main diagnosis only 0.00148 -0.4857 0.1528 Benign neoplasm: Oesophagus (other cancers excluded from controls) 0.0001534 435.888 115.144 CRYGC rs149859061 2:208128411:C:T 2 208128411 C T 2:208993135 0.999425 4705 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizoaffective disorder 0.00135 0.6097 0.1902 Pain, not elsewhere classified 0.0007127 3.291 0.972 CRYGC rs61751949 2:208129550:C:T 2 208129550 C T 2:208994274 0.977875 6345 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Caecum (other cancers excluded from controls) 0.000227 0.8067 0.2188 Other specified/unspecified hearing loss 0.0001574 5.159 1.365 CRYGB rs796287 2:208142835:T:G 2 208142835 T G 2:209007559 0.996147 75326 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter All influenza (not pneumonia) 0.000437 0.1273 0.0362 Fissure and fistula of anal and rectal regions 0.0003661 0.063 0.018 CRYGA rs139353014 2:208163217:C:T 2 208163217 C T 2:209027941 0.998302 2460 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Congenital cataract Traumatic amputation of wrist and hand 0.000229 1.6576 0.4499 Contusion of other and unspecified parts of foot 0.0001955 21.782 5.848 IDH1 rs62193615 2:208243560:T:C 2 208243560 T C 2:209108284 0.937861 680 missense_variant unknown not provided not_provided no assertion provided none not specified Other specified congenital malformation syndromes affecting multiple systems 0.000553 6.7556 1.9562 Other specified congenital malformation syndromes affecting multiple systems 0.0005176 144.867 41.731 IDH1 rs34599179 2:208243577:T:C 2 208243577 T C 2:209108301 0.982247 0.0343561 214 12408 missense_variant unknown not provided not_provided no assertion provided none not specified Hodgkin lymphoma (other cancers excluded from controls) 3.97e-05 1.1189 0.2723 0.001045 2.769 0.845 IDH1 rs34218846 2:208243593:C:T 2 208243593 C T 2:209108317 0.991923 11344 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Tic disorders (more controls excluded) 0.00275 1.1361 0.3794 Other pleural conditions 0.003277 1.665 0.566 PIKFYVE rs146158348 2:208314312:G:A 2 208314312 G A 2:209179036 0.987265 733 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Larynx 0.000575 4.1797 1.2139 PIKFYVE rs16840913 2:208315215:A:G 2 208315215 A G 2:209179939 0.999895 8347 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fleck corneal dystrophy Crushing injury of wrist and hand 0.000653 1.5794 0.4633 0.000917 -0.439 0.132 PIKFYVE rs2363468 2:208325606:T:C 2 208325606 T C 2:209190330 0.998273 2162 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dissocial personality disorder 0.00167 -2.3534 0.7485 Dissocial personality disorder 0.001599 -1.185 0.375 PIKFYVE rs893254 2:208325795:A:T 2 208325795 A T 2:209190519 0.997468 1998 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries of head 0.00268 -1.3838 0.4609 Sequelae of injuries of head 0.0024 -0.706 0.233 PIKFYVE rs893253 2:208325804:C:G 2 208325804 C G 2:209190528 0.998662 1993 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries of head 0.00267 -1.384 0.4608 Sequelae of injuries of head 0.002395 -0.707 0.233 PIKFYVE rs999890 2:208325908:T:G 2 208325908 T G 2:209190632 0.999451 35085 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fleck corneal dystrophy Other skin changes 0.000548 0.2584 0.0748 0.0001569 -0.161 0.043 PIKFYVE rs1529979 2:208326358:C:A 2 208326358 C A 2:209191082 0.998669 1990 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries of head 0.00262 -1.389 0.4617 Sequelae of injuries of head 0.002351 -0.709 0.233 PIKFYVE rs200003212 2:208335320:G:A 2 208335320 G A 2:209200044 0.992243 841 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of surgical and medical care, not elsewhere classified 0.000116 0.5253 0.1363 Pneumothorax 0.001669 52.967 16.85 PIKFYVE rs148994064 2:208339519:G:A 2 208339519 G A 2:209204243 0.997901 0.0148399 98 5354 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fleck corneal dystrophy Abnormal findings on examination of blood, without diagnosis 2.45e-05 0.3665 0.0869 Perioral dermatitis 0.0001333 27.721 7.256 PIKFYVE rs61752191 2:208340014:T:G 2 208340014 T G 2:209204738 0.983219 627 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of brain, other and unspecified 0.000459 7.7668 2.2167 PTH2R rs148627602 2:208444885:G:A 2 208444885 G A 2:209309610 0.994483 0.0025205 2 924 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pathological/recurrent dislocation and subluxation of joint, not elsewhere classified 5.68e-05 1.9844 0.493 MAP2 rs139310749 2:209653333:G:A 2 209653333 G A 2:210518057 0.97463 3463 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Horner syndrome 0.000703 2.7541 0.8128 Follow-up examination after treatment for malignant neoplasms 0.0002181 7.197 1.947 MAP2 rs41265969 2:209693410:G:T 2 209693410 G T 2:210558134 0.98953 0.0203191 168 7297 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemolytic anaemias 7.13e-05 1.2888 0.3245 Other and unspecified disorders involving the immune mechanism, not elsewhere classified 0.001448 9.062 2.845 MAP2 rs141459532 2:209693575:G:A 2 209693575 G A 2:210558299 0.998476 1907 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Speech and linguistic disorders 0.00201 1.1288 0.3655 Lichen simplex chronicus and prurigo 0.001804 48.501 15.542 MAP2 rs148922251 2:209694326:G:A 2 209694326 G A 2:210559050 0.998481 1911 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Biomechanical lesions, not elsewhere classified 0.000766 1.8764 0.5576 All-cause Heart Failure 0.0003994 3.199 0.904 UNC80 rs146163378 2:209777363:C:T 2 209777363 C T 2:210642087 0.989566 409 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vitreous body and globe 0.000247 1.1601 0.3165 Gonarthrosis [arthrosis of knee](FG) 0 3.368 0 UNC80 rs200473652 2:209819105:G:C 2 209819105 G C 2:210683829 0.949462 249 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Congenital malformations and deformations of the musculoskeletal system 0.000526 4.1331 1.192 UNC80 rs78846221 2:209878039:C:T 2 209878039 C T 2:210742763 0.930695 3240 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of puberty 0.000828 2.3204 0.6941 0.002293 -0.765 0.251 ACADL rs2286963 2:210195326:T:G 2 210195326 T G 2:211060050 0.998096 85131 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments of lumbar spine and pelvis 0.00054 0.3252 0.094 Dorsalgia 1.157e-05 0.05 0.011 ACADL rs377085604 2:210203383:C:A 2 210203383 C A 2:211068107 0.978679 3532 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified trigeminal disorders 0.00289 1.8183 0.6103 Cerebral aneurysm, nonruptured 0.0009871 10.013 3.04 ACADL rs61731470 2:210220767:G:A 2 210220767 G A 2:211085491 0.9964 6919 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Very long chain acyl-CoA dehydrogenase deficiency Disorders of lacrimal system and orbit in diseases classified elsewhere 0.0011 1.0645 0.3262 Other spirochaetal diseases 0.002686 3.388 1.129 CPS1 rs201874641 2:210556728:A:ATCT 2 210556728 A ATCT 2:211421452 0.99903 0.411358 62478 88650 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vasomotor rhinitis (mode) 7.77e-05 0.2101 0.0532 Cystitis 9.646e-05 -0.068 0.018 CPS1 rs114819130 2:210577488:G:A 2 210577488 G A 2:211442212 0.966048 1738 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital hyperammonemia, type I;not provided;not specified Congenital malformations of cardiac septa 0.000185 1.7869 0.4779 9.806e-05 2.394 0.615 CPS1 rs138392504 2:210588073:G:A 2 210588073 G A 2:211452797 0.991599 1057 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dorsopathies 0.000109 0.3042 0.0786 CPS1 rs147294932 2:210590107:G:A 2 210590107 G A 2:211454831 0.920016 0.000413732 0 152 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of thyroid gland 5.43e-05 13.612 3.3725 CPS1 rs1047883 2:210591913:A:G 2 210591913 A G 2:211456637 0.999443 86506 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cleft lip and cleft palate 0.00111 -0.42 0.1288 Other inflammation of eyelid 0.0007441 -0.111 0.033 CPS1 rs147062907 2:210616477:A:G 2 210616477 A G 2:211481201 0.962921 118 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of bone density and structure 0.000247 15.8183 4.3163 CPS1 rs200569046 2:210656592:T:C 2 210656592 T C 2:211521316 0.989037 240 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Skin of other and unspecified parts of face 0.000319 3.3207 0.9226 CPS1 rs140578009 2:210674926:G:A 2 210674926 G A 2:211539650 0.997877 10395 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital hyperammonemia, type I;not specified Other disorders of ear 0.0015 -0.1111 0.035 Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 0.0005757 2.416 0.702 CPS1 rs1047891 2:210675783:C:A 2 210675783 C A 2:211540507 0.99418 80502 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertension 0.000121 -0.041 0.0107 Malignant neoplasm of urinary organs (other cancers excluded from controls) 0.0002688 0.151 0.042 CPS1 rs150966847 2:210675818:C:T 2 210675818 C T 2:211540542 0.983172 407 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of amniotic fluid and membranes 0.00117 2.2709 0.6995 IKZF2 rs16849611 2:213056961:T:C 2 213056961 T C 2:213921685 0.973636 684 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other contact dermatitis 0.000265 2.3422 0.6421 SPAG16 rs535028567 2:214013970:TTGTA:T 2 214013970 TTGTA T 2:214878694 0.855807 0.00123575 0 454 pLoF unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasms 2.91e-05 0.5263 0.1259 BARD1 rs142155101 2:214728728:C:T 2 214728728 C T 2:215593452 0.996313 3347 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial cancer of breast;Hereditary cancer;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified Injury of other and unspecified intrathoracic organs 0.000151 1.2555 0.3313 Abscess of lung 0.001197 73.76 22.769 BARD1 rs61754118 2:214728798:T:C 2 214728798 T C 2:215593522 0.989571 502 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other spirochaetal diseases 0.000722 2.258 0.6678 BARD1 rs139620052 2:214728928:G:A 2 214728928 G A 2:215593652 0.968801 578 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Valvular operations 0.000695 0.4478 0.132 Arterial embolism and thrombosis of lower extremity artery 0.001038 69.15 21.083 BARD1 rs3738888 2:214730440:G:A 2 214730440 G A 2:215595164 0.994405 4345 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial cancer of breast;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;Triple-Negative Breast Cancer Finding;not provided;not specified Ulcerative colitis, NAS 0.000342 0.6044 0.1687 Other diseases of blood and blood-forming organs 4.974e-05 4.67 1.151 BARD1 rs2228456 2:214730479:A:G 2 214730479 A G 2:215595203 0.84522 39 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pneumothorax 0.00102 20.5683 6.2634 BARD1 rs28997576 2:214752454:C:G 2 214752454 C G 2:215617178 0.998286 0.0112497 44 4089 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Breast cancer, susceptibility to;Familial cancer of breast;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified Other retinal artery occlusion 4.08e-05 2.3368 0.5695 Other and unspecified disorders of psychological development 0.001275 66.894 20.765 BARD1 rs2070094 2:214767531:C:T 2 214767531 C T 2:215632255 0.999 91442 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormal findings in urine 0.000352 -0.4544 0.1272 Angina pectoris 6.307e-05 -0.051 0.013 BARD1 rs587781976 2:214767641:T:C 2 214767641 T C 2:215632365 0.982302 386 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Foreign body on external eye 0.00191 1.7137 0.552 BARD1 rs2229571 2:214780740:C:G 2 214780740 C G 2:215645464 0.996409 78484 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Obesity due to excess calories 0.00102 0.0809 0.0246 Abnormalities of forces of labour 0.0007819 0.093 0.028 BARD1 rs1233487680 2:214780778:GTGGTGAAGAACATTCAGGCAA:G 2 214780778 GTGGTGAAGAACATTCAGGCAA G 2:215645502 0.997738 1470 inframe_indel dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory disease of uterus 0.00154 0.892 0.2816 Other and unspecified effects of external causes 0.0001628 20.401 5.41 BARD1 rs144856889 2:214792315:G:A 2 214792315 G A 2:215657039 0.994427 0.00279269 2 1024 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Trigger finger 5.46e-06 1.9041 0.4188 BARD1 rs1048108 2:214809500:G:A 2 214809500 G A 2:215674224 0.99446 89782 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melanocytic naevi, other sites/unspecified (other cancers excluded from controls) 0.000438 0.2099 0.0597 COPD-related respiratory insufficiency 0.001321 0.06 0.019 BARD1 rs143914387 2:214809537:C:A 2 214809537 C A 2:215674261 0.943857 1251 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of continuity of bone 0.000709 1.6394 0.4841 ABCA12 rs726070 2:214948607:C:T 2 214948607 C T 2:215813331 0.998477 23760 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive congenital ichthyosis 4B;Congenital ichthyosiform erythroderma;not specified Iridocyclitis in diseases classified elsewhere 0.000339 0.8271 0.2308 Conductive and sensorineural hearing loss 0.0001178 0.245 0.064 ABCA12 rs150196545 2:214949083:T:C 2 214949083 T C 2:215813807 0.966384 292 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perforation of tympanic membrane 0.000354 3.2813 0.9186 ABCA12 rs145980660 2:214956688:C:T 2 214956688 C T 2:215821412 0.990152 292 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other acute lower respiratory infections 0.000113 1.2535 0.3246 ABCA12 rs149610963 2:214983804:T:C 2 214983804 T C 2:215848528 0.956555 557 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fracture at wrist and hand level 0.000248 1.1163 0.3046 ABCA12 rs76979001 2:215015554:C:T 2 215015554 C T 2:215880278 0.970537 1240 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital ichthyosiform erythroderma;not specified Diabetes, insuline treatment (Kela reimbursement) (more controls excluded) 0.000111 0.3845 0.0995 Occupational exposure to risk-factors 0.002719 35.626 11.884 ABCA12 rs148979792 2:215018025:G:T 2 215018025 G T 2:215882749 0.93721 673 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Age-related macular degeneration (whether dry or wet) 0.00077 1.3253 0.394 ABCA12 rs144534912 2:215018047:G:C 2 215018047 G C 2:215882771 0.909099 80 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Varus deformity, not elsewhere classified 0.000148 51.3037 13.5206 ABCA12 rs114651183 2:215019368:A:G 2 215019368 A G 2:215884092 0.962648 5014 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital ichthyosiform erythroderma Carcinoma in situ of skin of upper limb, including shoulder 0.000136 2.6783 0.702 Aphakia 0.0006819 10.91 3.212 ABCA12 rs143513000 2:215026859:C:G 2 215026859 C G 2:215891583 0.890375 0.000176925 0 65 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Varus deformity, not elsewhere classified 8.57e-05 65.0438 16.5597 ABCA12 rs11890512 2:215046000:T:G 2 215046000 T G 2:215910724 0.971071 0.00866114 36 3146 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital ichthyosiform erythroderma Benign neoplasm: Other and unspecified parts of mouth (other cancers excluded from controls) 7.07e-07 2.4132 0.4866 0.000709 6.149 1.816 ATIC rs2372536 2:215325297:C:G 2 215325297 C G 2:216190020 0.998601 73737 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary oedema 0.000299 0.4681 0.1295 Maternal care for known or suspected abnormality of pelvic organs 0.0003989 0.125 0.035 FN1 rs139078629 2:215386815:G:A 2 215386815 G A 2:216251538 0.933489 308 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed hyperlipidaemia 0.0012 5.8065 1.7933 FN1 rs147831535 2:215419286:C:T 2 215419286 C T 2:216284009 0.991042 0.00796978 14 2914 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Trigger finger 4e-05 0.9296 0.2263 Mental and behabioural disorders of puerperum, not classified elsewhere 0.000719 112.111 33.147 FN1 rs140926439 2:215424292:C:T 2 215424292 C T 2:216289015 0.995105 642 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hepatic failure, not elsewhere classified 0.00059 4.1386 1.2045 FN1 rs55822567 2:215428273:T:A 2 215428273 T A 2:216292996 0.952519 422 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of endocrine gland 0.000619 2.9396 0.8587 FN1 rs1250259 2:215435759:T:A 2 215435759 T A 2:216300482 0.993846 0.787568 228212 61131 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myocardial infarction 7.76e-06 -0.0965 0.0216 Schizoid personality disorder 7.437e-05 0.226 0.057 XRCC5 rs35408277 2:216148254:G:T 2 216148254 G T 2:217012977 0.971745 422 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Appendicitis, broad definition 0.000474 0.671 0.192 Mar-04 rs145386484 2:216370222:C:G 2 216370222 C G 2:217234945 0.859994 1041 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Substance use, excluding alcohol 0.000445 1.0227 0.2912 SMARCAL1 rs2066522 2:216420381:C:G 2 216420381 C G 2:217285104 0.995039 0.0142411 108 5124 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schimke immunoosseous dysplasia;not specified Burns and corrosions of external body surface, specified by site 6.19e-05 0.7502 0.1873 Poisoning by medicine 1.805e-05 2.906 0.678 SMARCAL1 rs2066518 2:216423665:G:C 2 216423665 G C 2:217288388 0.997755 3380 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schimke immunoosseous dysplasia;not specified Carcinoma in situ of breast (other cancers excluded from controls) 0.00174 0.8572 0.2737 Symptoms and signs involving cognition, perception, emotional state and behaviour 0.0007553 1.74 0.517 SMARCAL1 rs139872089 2:216428644:C:T 2 216428644 C T 2:217293367 0.94886 228 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Vitreous bleeding (caused by prolif. dmrp when together with H36.03*) 0.00237 3.4309 1.1288 SMARCAL1 rs2066520 2:216428719:A:T 2 216428719 A T 2:217293442 0.994129 0.00144534 0 531 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Intestinal infectious diseases 4.82e-05 0.6487 0.1596 SMARCAL1 rs200734842 2:216450942:G:A 2 216450942 G A 2:217315665 0.997805 1129 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholangitis (primary sclerosing, PSC) 0.000244 2.4765 0.6751 Cardiac arrhytmias, COPD co-morbidities 0.006909 13.633 5.047 SMARCAL1 rs200431186 2:216482877:T:C 2 216482877 T C 2:217347600 0.992014 560 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diseases of the ear and mastoid process 0.00145 0.3603 0.1131 TNS1 rs146606722 2:217847537:C:T 2 217847537 C T 2:218712260 0.973127 251 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic hepatitis NAS 0.000508 12.3671 3.5573 TNS1 rs141901890 2:217847726:T:G 2 217847726 T G 2:218712449 0.993939 392 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and unspecified sites 0.000394 5.8184 1.6416 TNS1 rs143053944 2:217849049:G:C 2 217849049 G C 2:218713772 0.998796 6340 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 0.000818 0.7026 0.2099 Behavioural disorders (more controls excluded) 0.0002944 18.487 5.107 CXCR2 rs55799208 2:218135259:G:A 2 218135259 G A 2:218999982 0.993741 539 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of parathyroid gland 0.000331 1.4974 0.4171 GPBAR1 rs149245876 2:218263373:G:C 2 218263373 G C 2:219128096 0.969778 612 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular disorders of the intestines 0.000201 3.8359 1.0318 TMBIM1 rs35041266 2:218282014:G:A 2 218282014 G A 2:219146737 0.954608 564 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Undetermined asthma (more controls excluded) 0.00174 1.817 0.5802 Bicipital tendinitis 0.000985 84.311 25.589 PNKD rs150402000 2:218339800:G:A 2 218339800 G A 2:219204523 0.992587 710 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Panic disorder 0.000338 1.5818 0.4413 PNKD rs141506076 2:218341569:G:A 2 218341569 G A 2:219206292 0.976974 2000 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Paroxysmal nonkinesigenic dyskinesia 1 Proliferative diabetic retinopathy 0.00108 1.0615 0.3246 Tarsal tunnel syndrome 0.0004949 146.506 42.057 PNKD rs139825405 2:218344505:G:A 2 218344505 G A 2:219209228 0.982526 767 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paroxysmal nonkinesigenic dyskinesia 1 Disorders of calcium metabolism 0.000909 2.7085 0.8165 0.003446 -28.019 9.579 SLC11A1 rs141861983 2:218391379:G:A 2 218391379 G A 2:219256102 0.987427 306 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other papulosquamous disorders 0.000189 17.3405 4.6456 SLC11A1 rs17215556 2:218394133:T:C 2 218394133 T C 2:219258856 0.959967 0.00621414 14 2269 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supervision of high-risk pregnancy 1.25e-05 -0.5566 0.1274 Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.0001547 367.019 97.009 SLC11A1 rs17235409 2:218395009:G:A 2 218395009 G A 2:219259732 0.982076 0.01941 158 6973 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Buruli ulcer, susceptibility to Moderate visual impairment, binocular 1.34e-05 1.4383 0.3304 Erosion and ectropion of cervix uteri 0.0004367 6.199 1.763 CTDSP1 rs2227249 2:218401662:G:A 2 218401662 G A 2:219266385 0.985891 830 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed disorders of conduct and emotions (more controls excluded) 0.000337 5.9074 1.6477 Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder (other cancers excluded from controls) 0.0007859 100.455 29.918 VIL1 rs148353573 2:218429401:C:A 2 218429401 C A 2:219294124 0.917944 2357 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Dissociative [conversion] disorders 0.000131 1.8169 0.475 Pervasive developmental disorders excl. Autism + Asperger 0.001004 66.635 20.257 USP37 rs61752208 2:218454943:C:T 2 218454943 C T 2:219319666 0.979527 2166 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons with potential health hazards related to socioeconomic and psychosocial circumstances 0.000272 0.5567 0.1529 Cervical root disorders 0.0004738 163.165 46.683 BCS1L rs377025174 2:218661192:C:T 2 218661192 C T 2:219525915 0.841587 82 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Unspecified haematuria 0.000144 3.5369 0.9303 BCS1L rs28937590 2:218661219:A:G 2 218661219 A G 2:219525942 0.973081 0.00396856 2 1456 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dissociative [conversion] disorders 3.14e-05 2.7485 0.6602 STK36 rs1344642 2:218690539:G:A 2 218690539 G A 2:219555262 0.999921 0.435866 69848 90284 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the eye and adnexa 6.3e-05 0.03 0.0075 Disorders of porphyrin and bilirubin metabolism 0.0001209 0.481 0.125 STK36 rs145980892 2:218693283:A:C 2 218693283 A C 2:219558006 0.956474 5465 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydrocephalus 0.000135 1.0515 0.2754 Complications following abortion and ectopic and molar pregnancy 0.0001331 26.931 7.049 STK36 rs13023540 2:218696531:G:A 2 218696531 G A 2:219561254 0.991642 0.0155149 102 5598 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs (other cancers excluded from controls) 1.39e-05 0.9228 0.2124 Female infertility 7.76e-05 2.345 0.593 STK36 rs1863704 2:218697952:G:A 2 218697952 G A 2:219562675 0.998883 0.390783 56186 87383 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute sinusitis 3.04e-05 0.0676 0.0162 Disorders of porphyrin and bilirubin metabolism 3.706e-05 0.578 0.14 STK36 rs147792143 2:218701899:T:C 2 218701899 T C 2:219566622 0.987662 362 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of prostate 0.000165 6.8617 1.8211 CYP27A1 rs148417330 2:218812266:G:A 2 218812266 G A 2:219676989 0.907739 98 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary polycythaemia 0.00083 23.4311 7.0099 CYP27A1 rs199691576 2:218812617:G:A 2 218812617 G A 2:219677340 0.939926 106 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injuries to the wrist and hand 0.000369 1.3018 0.3656 CYP27A1 rs41272687 2:218814154:C:T 2 218814154 C T 2:219678877 0.97805 2098 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholestanol storage disease;not specified Pulmonary oedema 0.000425 3.797 1.0775 Varus deformity, not elsewhere classified 0.0008083 101.255 30.226 CYP27A1 rs121908096 2:218814186:C:T 2 218814186 C T 2:219678909 0.806245 81 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrophy of (infrapatellar) fat pad 0.000212 46.903 12.6617 CYP27A1 rs72551323 2:218814752:G:T 2 218814752 G T 2:219679475 0.958294 7192 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cholestanol storage disease;not provided;not specified Non-follicular lymphoma (other cancers excluded from controls) 0.000223 0.6528 0.1768 Open wound of ankle and foot 0.0002049 4.785 1.289 WNT10A rs146460077 2:218882255:C:T 2 218882255 C T 2:219746977 0.964737 744 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melanocytic naevi of other and unspecified parts of face (other cancers excluded from controls) 0.000629 2.601 0.7608 WNT10A rs141074983 2:218882384:C:T 2 218882384 C T 2:219747106 0.989369 0.00429791 12 1567 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl not provided Pre-eclampsia or eclampsia 9.9e-05 0.7823 0.2009 Vascular dementia (subcortical) 0.0007512 109.324 32.438 WNT10A rs77583146 2:218890100:G:A 2 218890100 G A 2:219754822 0.944084 4653 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Odontoonychodermal dysplasia;Odontoonychodermal dysplasia;Schopf-Schulz-Passarge syndrome;Selective tooth agenesis;Tooth agenesis, selective, 4;not provided Supervision of high-risk pregnancy 0.000263 -0.3177 0.0871 Intestinal adhesions without obstruction 0.0002615 7.372 2.019 WNT10A rs116998555 2:218890118:C:T 2 218890118 C T 2:219754840 0.961838 179 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Diabetic neuropathy 0.00164 3.9265 1.2468 WNT10A rs146902156 2:218890256:G:A 2 218890256 G A 2:219754978 0.966857 174 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of liver 0.000226 2.2642 0.614 WNT10A rs121908120 2:218890289:T:A 2 218890289 T A 2:219755011 0.989676 0.00648361 18 2364 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Hypohidrotic ectodermal dysplasia;Inborn genetic diseases;Odontoonychodermal dysplasia;Odontoonychodermal dysplasia;Schopf-Schulz-Passarge syndrome;Selective tooth agenesis;Tooth agenesis, selective, 4;Tooth agenesis, selective, 4;not provided;not specified Osteonecrosis 5.31e-05 2.1065 0.5212 Haemorrhage in early pregnancy 0.0009695 8.873 2.689 CFAP65 rs114017706 2:219026092:C:T 2 219026092 C T 2:219890814 0.875222 358 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of other sites/unspecified 0.00163 2.4516 0.7783 IHH rs142036701 2:219060239:G:T 2 219060239 G T 2:219924961 0.98242 1073 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Brachydactyly Persons encountering health services in circumstances related to reproduction 0.000307 -0.3444 0.0954 Postprocedural endocrine and metabolic disorders, not elsewhere classified 0.003493 26.114 8.941 ABCB6 rs149363094 2:219213842:G:C 2 219213842 G C 2:220078564 0.989045 437 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular cyst 0.000573 11.771 3.4179 ABCB6 rs57467915 2:219216694:G:A 2 219216694 G A 2:220081416 0.990865 6397 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Other disorders of Eustachian tube 0.000251 1.4812 0.4046 Diabetes mellitus 9.102e-05 0.794 0.203 ABCB6 rs148458820 2:219216803:C:T 2 219216803 C T 2:220081525 0.979323 312 pLoF dominant Affects association no assertion criteria provided no_Criteria Retinoschisis and retinal cysts 0.00161 8.151 2.5837 ABCB6 rs150221689 2:219217782:C:T 2 219217782 C T 2:220082504 0.977706 764 missense_variant dominant Uncertain significance VUS no assertion criteria provided no_Criteria Gastro-oesophageal reflux disease 0.000166 0.6233 0.1655 ABCB6 rs149202834 2:219217783:G:A 2 219217783 G A 2:220082505 0.981288 917 missense_variant dominant Affects association no assertion criteria provided no_Criteria Subjective visual disturbances 0.00036 1.2092 0.3389 ANKZF1 rs13007650 2:219231956:A:C 2 219231956 A C 2:220096678 0.98646 0.0135606 72 4910 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other inflammation of vagina/vulva 4.2e-05 1.3647 0.3332 Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 9.078e-05 2.638 0.674 ANKZF1 rs200506719 2:219232564:G:A 2 219232564 G A 2:220097286 0.961335 1473 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Oesophagus 0.000121 5.8642 1.5256 Bronchitis, not specified as acute or chronic 0.003198 27.34 9.274 ANKZF1 rs140395841 2:219234991:C:T 2 219234991 C T 2:220099713 0.961972 1478 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Oesophagus 0.000122 5.8524 1.5234 Bronchitis, not specified as acute or chronic 0.003198 27.34 9.274 DES rs41272699 2:219420154:C:T 2 219420154 C T 2:220284876 0.986594 0.0104113 76 3749 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Congenital diaphragmatic hernia;Dilated Cardiomyopathy, Dominant;Muscular dystrophy, limb-girdle, type 2R;Myofibrillar Myopathy, Dominant;Myofibrillar myopathy;Myofibrillar myopathy 1;Myofibrillar myopathy 1;Scapuloperoneal weakness;not provided;not specified Ptosis of eyelid 1.64e-06 1.2066 0.2517 Other or ill-defined heart diseases 0.001404 9.094 2.847 DES rs367961979 2:219420276:G:A 2 219420276 G A 2:220284998 0.927301 135 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Persons encountering health services in other circumstances 0.000369 3.8089 1.0694 SPEG rs747464249 2:219448807:C:T 2 219448807 C T 2:220313529 0.979267 1436 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Sequelae of injuries of neck and trunk 0.000131 3.4449 0.9008 Dyshidrosis [pompholyx] 0.0003156 232.592 64.57 SPEG rs35181232 2:219468599:G:A 2 219468599 G A 2:220333321 0.973112 4335 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified polyneuropathies, also in other diseases 0.00013 0.5908 0.1544 Chirrosis of liver, NAS 0.0004422 15.424 4.39 SPEG rs56334571 2:219468865:C:T 2 219468865 C T 2:220333587 0.987949 0.0128039 84 4620 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of white blood cells 5.82e-06 1.5036 0.3317 Acute pharyngitis 0.0009956 4.75 1.443 SPEG rs55916864 2:219469364:C:T 2 219469364 C T 2:220334086 0.99002 820 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperkinetic disorders (excl. ADHD) 0.000105 4.5558 1.1748 SPEG rs34994343 2:219472968:G:A 2 219472968 G A 2:220337690 0.940677 3366 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension 0.000187 -0.1983 0.0531 Benign neoplasm: Other and unspecified parts of small intestine 0.0003383 29.829 8.323 SPEG rs150628707 2:219477404:C:T 2 219477404 C T 2:220342126 0.988465 397 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gastro-oesophageal reflux disease 0.000192 0.8775 0.2353 SPEG rs531879999 2:219483539:C:G 2 219483539 C G 2:220348261 0.961746 2114 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Tic disorders 0.00036 4.1187 1.1545 Tic disorders 0.0006044 127.255 37.104 SPEG rs10755037 2:219484029:C:T 2 219484029 C T 2:220348751 0.999475 66564 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute peritonitis 0.00026 -0.2383 0.0652 Primary open-angle glaucoma, strict 4.548e-05 0.184 0.045 SPEG rs77314619 2:219488262:C:T 2 219488262 C T 2:220352984 0.94826 144 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinal haemorrhage 0.000132 18.9771 4.9656 SPEG rs12464085 2:219490807:A:G 2 219490807 A G 2:220355529 0.996456 76377 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epidural haemorrhage 0.000413 0.5419 0.1535 Primary open-angle glaucoma, strict 9.906e-05 0.143 0.037 GMPPA rs34873891 2:219501527:C:T 2 219501527 C T 2:220366249 0.992867 3194 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Migraine without aura 0.0014 -0.5052 0.1581 Ectopic pregnancy 0.0008307 10.666 3.191 ASIC4 rs116598338 2:219514822:T:C 2 219514822 T C 2:220379544 0.984252 0.00599639 32 2171 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 7.09e-05 1.0445 0.2629 Ganglion 0.0005124 5.801 1.67 OBSL1 rs59332477 2:219552544:C:T 2 219552544 C T 2:220417266 0.995239 91137 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gestational diabetes (for exclusion) 0.000533 -0.0808 0.0233 Acute upper respiratory infections 0.0006571 0.026 0.008 OBSL1 rs199594182 2:219552634:G:T 2 219552634 G T 2:220417356 0.96133 268 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter MS-disease / Multiple Sclerosis 0.000177 4.3597 1.1624 OBSL1 rs181520135 2:219552642:G:T 2 219552642 G T 2:220417364 0.988312 0.00432513 8 1581 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Three M syndrome;not specified Congenital malformations of uterus and cervix 7.18e-05 4.3817 1.1037 Other specified disorders of muscle 0.001387 63.963 20.005 OBSL1 rs140825693 2:219553612:C:A 2 219553612 C A 2:220418334 0.993288 0.00398489 6 1458 pLoF recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism,other/unspecified 7.79e-05 0.3703 0.0937 Acute appendicitis, with complications 0.009627 11.67 4.507 OBSL1 rs10932814 2:219554617:T:C 2 219554617 T C 2:220419339 0.992398 0.994371 363282 2038 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 2.33e-05 -1.1644 0.2752 Other embolism and thrombosis 1.729e-05 -0.598 0.139 OBSL1 rs3087971 2:219556063:G:A 2 219556063 G A 2:220420785 0.996135 77220 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of other endocrine glands 0.000179 0.0775 0.0207 Other specified congenital malformation syndromes affecting multiple systems 0.001056 0.479 0.146 OBSL1 rs200341414 2:219556189:G:A 2 219556189 G A 2:220420911 0.992457 8322 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings in secretions and smears from cervix uteri vagina vulva 0.000345 0.2096 0.0586 Malignant neoplasm of urinary organs (other cancers excluded from controls) 2.544e-05 3.455 0.82 OBSL1 rs183329050 2:219556268:C:T 2 219556268 C T 2:220420990 0.927675 1221 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified fall 0.000341 6.0369 1.6853 Status post-ami 0.002324 59.974 19.693 OBSL1 rs147543583 2:219556598:C:T 2 219556598 C T 2:220421320 0.992097 0.00558265 30 2021 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Three M syndrome;not provided;not specified Other embolism and thrombosis 4.27e-05 1.1247 0.2748 Kyphosis 0.001952 47.19 15.235 OBSL1 rs1983210 2:219556695:C:G 2 219556695 C G 2:220421417 0.991156 0.717432 189148 74428 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of other endocrine glands 3.56e-05 -0.087 0.021 Disorders of other endocrine glands 1.65e-05 -0.058 0.013 OBSL1 rs200543358 2:219556721:G:A 2 219556721 G A 2:220421443 0.997127 0.0010561 8 380 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Unspecified diabetes 3.54e-06 2.3677 0.5107 Benign neoplasm: Vulva (other cancers excluded from controls) 0.0007836 98.986 29.473 OBSL1 rs145485683 2:219557861:G:A 2 219557861 G A 2:220422583 0.959252 7916 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Three M syndrome Other lack of coordination 0.00215 1.3062 0.4257 Acute nephritic syndrome 9.467e-05 10.668 2.733 OBSL1 rs72957510 2:219557964:C:T 2 219557964 C T 2:220422686 0.944436 977 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Leiomyoma of uterus (other cancers excluded from controls) 0.0014 -0.4613 0.1444 OBSL1 rs139713392 2:219559470:C:T 2 219559470 C T 2:220424192 0.801375 0.000122486 0 45 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified dermatitis 8.3e-05 3.7943 0.9641 OBSL1 rs1039898 2:219565481:C:T 2 219565481 C T 2:220430203 0.990703 0.913122 306380 29090 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic Coagulation defects 5.72e-05 -0.6907 0.1716 Chronic Coagulation defects 3.768e-05 -0.377 0.091 OBSL1 rs35009641 2:219568235:G:A 2 219568235 G A 2:220432957 0.990404 22648 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Three M syndrome Chronic Coagulation defects 0.000309 0.6958 0.1929 Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.0001961 0.337 0.09 INHA rs12720062 2:219575194:G:A 2 219575194 G A 2:220439916 0.990466 4975 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Phakomatoses, not elsewhere classified 0.000155 2.6518 0.7011 Other retinal artery occlusion 0.0002648 19.46 5.335 SLC4A3 rs61729101 2:219637644:G:C 2 219637644 G C 2:220502366 0.958474 6881 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Male infertility 0.000422 0.8833 0.2505 Hypertensive Renal Disease 0.000193 8.094 2.171 PAX3 rs2234675 2:222221236:G:T 2 222221236 G T 2:223085955 0.992804 12949 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital diaphragmatic hernia;Craniofacial deafness hand syndrome;Waardenburg syndrome;Waardenburg syndrome type 1;not specified Pain (limb, back, neck, head abdominally) 0.000333 -0.0667 0.0186 Disorders of synovium and tendon 0.001183 0.492 0.152 AP1S3 rs138292988 2:223777776:G:A 2 223777776 G A 2:224642493 0.976909 0.0112932 42 4107 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psoriasis 15, pustular, susceptibility to;not specified Mood disorders (more controls excluded) 1.76e-05 -0.2587 0.0603 Otherand unspecified haemorrhagic conditions 0.002723 36.289 12.107 AP1S3 rs116107386 2:223777862:A:C 2 223777862 A C 2:224642579 0.967559 1965 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Psoriasis 15, pustular, susceptibility to Dizziness and giddiness 0.00109 0.3192 0.0977 Postpartum care and examination 0.000402 15.07 4.259 MRPL44 rs113782060 2:223959598:A:G 2 223959598 A G 2:224824315 0.98134 1328 missense_variant recessive Uncertain significance VUS no assertion criteria provided no_Criteria not provided Congenital deformities of hip 0.00159 3.2803 1.0386 Obstructed labour due to maternal pelvic abnormality 0.0002341 18.099 4.919 CUL3 rs3738952 2:224497761:C:T 2 224497761 C T 2:225362478 0.999025 0.102559 3920 33759 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pseudohypoaldosteronism type 1 autosomal dominant;not specified Disorders of lens 5.7e-05 -0.0815 0.0202 Lesion of plantar nerve 0.001067 0.598 0.183 IRS1 rs1801278 2:226795828:C:T 2 226795828 C T 2:227660544 0.96914 17392 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Coronary artery disease, susceptibility to;Insulin resistance, susceptibility to Schizoaffective disorder 0.000393 -0.3848 0.1085 Myeloproliferative diseases (CML excluded) 0.00116 1.766 0.544 IRS1 rs1801277 2:226796065:T:C 2 226796065 T C 2:227660781 0.881847 2602 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Demyelenating diseases of the central nervous system 0.00232 -0.8977 0.2947 Mood disorders 0.001346 1.4 0.437 IRS1 rs41265094 2:226796287:C:G 2 226796287 C G 2:227661003 0.966908 6939 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes mellitus type 2;not specified Benign neoplasm: Ascending colon (other cancers excluded from controls) 0.00012 0.7037 0.183 Other prurigo 0.0002367 20.789 5.655 IRS1 rs773978890 2:226796679:TTGC:T 2 226796679 TTGC T 2:227661395 0.88062 666 inframe_indel dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Additional codes for the location of defect, injury or illness 0.00033 3.9633 1.1037 IRS1 rs1801276 2:226797205:C:G 2 226797205 C G 2:227661921 0.932482 0.0230492 168 8300 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes mellitus type 2 Psoriasis 9.45e-05 0.3378 0.0865 Burns and corrosions confined to eye and internal organs 0.0004879 8.715 2.499 COL4A4 rs190148408 2:227008067:G:C 2 227008067 G C 2:227872783 0.953017 198 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other viral diseases 0.000123 2.6391 0.6872 COL4A4 rs3752895 2:227022057:A:G 2 227022057 A G 2:227886773 0.999723 91730 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vitreous body 0.000128 -0.077 0.0201 Disorders of vitreous body 5.858e-05 -0.067 0.017 COL4A4 rs2229813 2:227028004:C:T 2 227028004 C T 2:227892720 0.999702 0.494943 89986 91850 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vitreous body 2.08e-05 -0.0856 0.0201 Disorders of vitreous body 1.322e-05 -0.072 0.016 COL4A4 rs1800517 2:227051116:G:A 2 227051116 G A 2:227915832 0.999624 0.505724 94148 91649 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vitreous body 2.18e-06 -0.095 0.0201 Disorders of vitreous body and globe 2.537e-05 -0.067 0.016 COL4A4 rs13027659 2:227051131:C:T 2 227051131 C T 2:227915847 0.973704 3412 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other specific arthropathies 0.00144 1.6998 0.5334 0.0002976 6.718 1.857 COL4A4 rs150979437 2:227056031:C:T 2 227056031 C T 2:227920747 0.881602 504 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Sequelae of injuries of upper limb 0.000493 2.2855 0.6559 COL4A4 rs200714000 2:227057585:G:C 2 227057585 G C 2:227922301 0.956567 1804 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Alport syndrome Disorders of sclera, cornea, iris and ciliary body 0.000275 0.4443 0.1221 Other specified and unspecified strabismus 0.0007553 108.908 32.33 COL4A4 rs1800516 2:227082177:C:G 2 227082177 C G 2:227946893 0.978891 7763 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alport syndrome;not specified Perioral dermatitis 0.000819 1.4672 0.4385 Other and unspecified injuries of wrist and hand 0.002146 8.078 2.632 COL4A4 rs2229814 2:227089883:G:A 2 227089883 G A 2:227954599 0.979454 0.526299 101838 91518 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vitreous body and globe 1.84e-05 -0.0853 0.0199 Disorders of vitreous body and globe 4.167e-05 -0.065 0.016 COL4A3 rs13424243 2:227238007:G:C 2 227238007 G C 2:228102723 0.997363 81351 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peptic ulcer 0.000751 0.4876 0.1447 Haemorrhage in early pregnancy 0.0008595 0.112 0.034 COL4A3 rs115324397 2:227245975:C:A 2 227245975 C A 2:228110691 0.941162 1392 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Cervicalgia 0.000458 0.8535 0.2435 Acute nasopharyngitis(common cold) 0.0007972 75.627 22.55 COL4A3 rs10178458 2:227246719:T:C 2 227246719 T C 2:228111435 0.999561 53435 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Burn and corrosion of head and neck 0.000176 -0.4685 0.1249 Heart failure, not strict 0.0003385 -0.034 0.01 COL4A3 rs6436669 2:227248459:A:G 2 227248459 A G 2:228113175 0.999531 53434 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Female genital prolapse 0.00017 -0.097 0.0258 Heart failure, not strict 0.0003484 -0.034 0.01 COL4A3 rs80109666 2:227254151:G:A 2 227254151 G A 2:228118867 0.993056 8365 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alport syndrome;Alport syndrome 3, autosomal dominant;Alport syndrome, autosomal recessive;not specified Lupus erythematosus 0.000282 1.1697 0.3221 1.928e-05 4.037 0.945 COL4A3 rs55703767 2:227256385:G:T 2 227256385 G T 2:228121101 0.985252 0.190439 13330 56635 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal ulcer 7.39e-07 -0.2029 0.041 0.0003411 -0.064 0.018 COL4A3 rs34505188 2:227263852:G:A 2 227263852 G A 2:228128568 0.997304 13483 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alport syndrome;Alport syndrome 3, autosomal dominant;Alport syndrome, autosomal recessive;not specified Additional codes for the location of defect, injury or illness 0.000282 0.6884 0.1895 Disorder of thyroid, unspecified 0.000515 6.181 1.78 COL4A3 rs11677877 2:227266453:A:G 2 227266453 A G 2:228131169 0.997788 13476 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alport syndrome;not provided;not specified Additional codes for the location of defect, injury or illness 0.000278 0.688 0.1893 Disorder of thyroid, unspecified 0.0005849 5.922 1.722 COL4A3 rs28381984 2:227270915:C:T 2 227270915 C T 2:228135631 0.991596 91429 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lichen simplex chronicus 0.000657 0.267 0.0784 Other congenital malformations of tongue, mouth and pharynx 0.0009453 -0.363 0.11 COL4A3 rs56226424 2:227282377:A:G 2 227282377 A G 2:228147093 0.983386 5713 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Additional codes for the location of defect, injury or illness 0.000132 1.1816 0.3091 Other noninfective gastroenteritis and colitis 0.0003742 2.907 0.817 COL4A3 rs55816283 2:227293305:C:T 2 227293305 C T 2:228158021 0.930333 765 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Headache 0.00123 0.5367 0.1661 Benign neoplasm: Vagina 0.0004388 173.875 49.459 COL4A3 rs57611801 2:227298737:C:A 2 227298737 C A 2:228163453 0.996557 0.0844448 2868 28156 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alport syndrome;not provided;not specified Corneal ulcer 6.3e-08 0.312 0.0577 Dyspnoea 0.002112 0.162 0.053 COL4A3 rs200302125 2:227307878:T:C 2 227307878 T C 2:228172594 0.805292 238 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Malignant neoplasm of liver and intrahepatic bile ducts (other cancers excluded from controls) 0.00106 9.5894 2.9298 COL4A3 rs77964815 2:227308920:A:G 2 227308920 A G 2:228173636 0.951088 1192 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Type 2 diabetes, wide definition 0.000189 0.4766 0.1276 Other medical care 7.33e-05 24.444 6.164 MFF rs3211097 2:227329764:A:T 2 227329764 A T 2:228194480 0.997266 79703 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified mononeuropathies of upper limb 0.000485 -0.2967 0.085 Nonspesific lymphadenitis 0.0001547 -0.225 0.059 MFF rs3211098 2:227329765:G:T 2 227329765 G T 2:228194481 0.997297 79702 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified mononeuropathies of upper limb 0.000485 -0.2967 0.085 Nonspesific lymphadenitis 0.0001537 -0.225 0.059 SLC19A3 rs34507036 2:227696012:A:G 2 227696012 A G 2:228560728 0.993729 0.00217209 2 796 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Connective and other soft tissue of lower limb, including hip (other cancers excluded from controls) 9.32e-05 4.9761 1.2735 SLC19A3 rs145804755 2:227699094:T:C 2 227699094 T C 2:228563810 0.916634 105 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other menopausal disorders 0.001 6.7689 2.0572 SLC19A3 rs773971505 2:227699174:A:G 2 227699174 A G 2:228563890 0.959491 303 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 0.00112 2.988 0.9167 SLC19A3 rs148144444 2:227699294:C:T 2 227699294 C T 2:228564010 0.947003 3291 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Biotin-thiamine-responsive basal ganglia disease;not provided;not specified Diabetic polyneuropathy 0.000296 1.9661 0.5433 Hypopituitarism 0.0004589 14.624 4.174 SPHKAP rs61755300 2:227981848:C:G 2 227981848 C G 2:228846564 0.97796 936 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic subdural haemorrhage 0.000182 1.9308 0.5159 SPHKAP rs61752221 2:227991277:C:T 2 227991277 C T 2:228855993 0.966232 5201 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of urethra and urinary system 0.00105 -0.1977 0.0603 Benign neoplasm: Skin of ear and external auricular canal 4.082e-05 13.093 3.191 SP110 rs3948463 2:230172144:C:T 2 230172144 C T 2:231036860 0.995167 13032 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hepatic venoocclusive disease with immunodeficiency;not specified Pneumothorax 0.000424 0.5392 0.153 Congenital deformities of feet 0.0003311 4.265 1.188 SP110 rs1135791 2:230177560:A:G 2 230177560 A G 2:231042276 0.995821 89595 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Separation of retinal layers (serosa) 0.000283 -0.2648 0.0729 Injury of muscle and tendon at forearm level 0.0001857 0.368 0.099 SP110 rs149485401 2:230178157:C:T 2 230178157 C T 2:231042873 0.980191 9108 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hepatic venoocclusive disease with immunodeficiency Erythema multiforme 0.000222 1.1271 0.3052 Special screening examination for neoplasms 0.001262 4.061 1.26 SP110 rs3948464 2:230185999:A:G 2 230185999 A G 2:231050715 0.997413 43642 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.000513 -0.1821 0.0524 Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.0003058 -0.106 0.029 SP110 rs1365776 2:230207994:C:T 2 230207994 C T 2:231072709 0.987835 89368 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other neurotic disorders 0.000448 0.181 0.0516 Other neurotic disorders 0.0003219 0.137 0.038 SP110 rs9061 2:230212395:C:T 2 230212395 C T 2:231077110 0.983502 22237 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hepatic venoocclusive disease with immunodeficiency;not specified Benign neoplasm: Descending colon 0.000467 -0.4718 0.1348 0.0003444 -0.268 0.075 SP110 rs28930679 2:230212397:G:A 2 230212397 G A 2:231077112 0.974422 59735 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glucoma-related operations 0.000398 0.3314 0.0936 Follicular lymphoma (other cancers excluded from controls) 0.001099 0.439 0.134 SP110 rs146515106 2:230212893:G:A 2 230212893 G A 2:231077608 0.994319 1313 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of lip (other cancers excluded from controls) 0.00327 4.3391 1.4752 Diplopia 0.0002556 17.176 4.697 SP110 rs11556887 2:230212961:G:A 2 230212961 G A 2:231077676 0.981757 23124 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hepatic venoocclusive disease with immunodeficiency;not specified Fracture of femur 0.000715 -0.1781 0.0526 0.0003896 -0.255 0.072 SP110 rs41309088 2:230212968:C:T 2 230212968 C T 2:231077683 0.980679 18280 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hepatic venoocclusive disease with immunodeficiency Sequelae of injuries of neck and trunk 0.000559 0.6987 0.2025 Idiopathic thrombocytopenic purpura 0.001354 2.278 0.711 SP110 rs1129411 2:230213010:A:G 2 230213010 A G 2:231077725 0.986759 41644 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otitis externa, unspecified 0.000926 -0.2305 0.0696 Other abnormal findings of blood chemistry 0.0002119 -0.284 0.077 SP140 rs138339396 2:230255494:G:C 2 230255494 G C 2:231120209 0.999107 3107 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other symptoms and signs involving general sensations and perceptions 0.000711 1.5537 0.4589 Endovascular or surgical operations to intracerebral aneurysms 0.0008383 9.961 2.983 SP100 rs116484154 2:230461316:G:A 2 230461316 G A 2:231326031 0.977725 1567 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Scar conditions and fibrosis of skin 0.000589 2.3084 0.6717 Other and unspecified injuries of head 2.842e-05 45.724 10.924 ARMC9 rs3752780 2:231235266:G:A 2 231235266 G A 2:232099979 0.99265 1014 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adhesive middle ear disease 0.000206 5.2508 1.4149 ARMC9 rs144026971 2:231345002:C:T 2 231345002 C T 2:232209714 0.989317 1194 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter malignant neoplasm of female genital organs (other cancers excluded from controls) 0.000604 0.8242 0.2403 Visual disturbances 0.0006048 11.772 3.432 NCL rs761187978 2:231460685:TTCC:T 2 231460685 TTCC T 2:232325396 0.966349 2281 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postmenopausal osteoporosis with pathological fracture 0.000166 1.9497 0.5176 Heart failure,strict 0.0002642 2.596 0.712 NCL rs117088491 2:231461806:T:G 2 231461806 T G 2:232326517 0.983028 1175 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma (only as main-diagnosis) 0.000237 0.4424 0.1203 Iridocyclitis in diseases classified elsewhere 0.001706 54.484 17.368 NMUR1 rs150482580 2:231528246:G:A 2 231528246 G A 2:232392957 0.995912 0.0125426 60 4548 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter SLE (Finngen) 4.68e-05 1.4345 0.3524 General symptoms and signs 0.0007555 0.827 0.245 DIS3L2 rs723044 2:232014961:C:T 2 232014961 C T 2:232879671 0.99941 12220 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal hamartomas nephroblastomatosis and fetal gigantism Nephrotic syndrome 0.00112 0.6763 0.2075 Social disorders starting during childhood or adolecense 0.001814 7.849 2.516 DIS3L2 rs747395729 2:232130707:A:G 2 232130707 A G 2:232995417 0.96791 341 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other symptoms and signs involving the digestive system and abdomen 0.000304 2.6176 0.7248 DIS3L2 rs184764939 2:232130729:T:G 2 232130729 T G 2:232995439 0.988167 6717 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Renal hamartomas nephroblastomatosis and fetal gigantism Other and unspecified local infections of skin and subcutaneous tissue 0.000167 0.7093 0.1884 Malignant neoplasm of liver and intrahepatic bile ducts (other cancers excluded from controls) 0.001158 9.926 3.055 DIS3L2 rs202042951 2:232136564:C:T 2 232136564 C T 2:233001274 0.907904 208 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inflammatory disease of uterus 0.000615 3.0572 0.8927 DIS3L2 rs186865544 2:232263228:C:G 2 232263228 C G 2:233127938 0.945027 128 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons with potential health hazards related to family and personal history and certain conditions influencing health status 0.00281 0.9725 0.3255 DIS3L2 rs148474013 2:232263229:G:A 2 232263229 G A 2:233127939 1 4217 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal hamartomas nephroblastomatosis and fetal gigantism;not specified Benign neoplasm of ovary 0.000651 0.4674 0.1371 Hypertensive diseases (excluding secondary) 0.0006942 -0.826 0.243 ALPP rs1130335 2:232378876:C:T 2 232378876 C T 2:233243586 0.999081 24039 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM Dislocation, sprain and strain of joints and ligaments of elbow 0.00183 0.3465 0.1112 Other maternal disorders predominantly related to pregnancy 0.0003005 0.315 0.087 ALPP rs113323105 2:232379003:G:C 2 232379003 G C 2:233243713 0.908858 1553 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nontoxic multinodular goitre 0.00225 0.7215 0.2361 Sequelae of injuries of head 0.001127 75.079 23.054 ALPP rs1048988 2:232380220:G:C 2 232380220 G C 2:233244930 0.978956 61838 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other menopausal disorders 0.000388 0.2065 0.0582 Injury of muscle and tendon at hip and thigh level 0.0003469 0.313 0.088 ALPPL2 rs146482704 2:232407381:C:T 2 232407381 C T 2:233272091 0.930869 1895 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylopathies 0.000511 0.3422 0.0985 Postpartum care and examination 0.0004889 11.348 3.255 ALPPL2 rs112965314 2:232407385:A:T 2 232407385 A T 2:233272095 0.985876 0.0229131 206 8212 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiac murmurs and other cardiac sounds 7.22e-05 0.5986 0.1508 Other CVD 0.001758 2.225 0.711 ECEL1 rs41265123 2:232484141:C:G 2 232484141 C G 2:233348851 0.955384 5537 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Rotator cuff syndrome 0.00049 0.2237 0.0642 Other specified and unspecified retinal disorders 0.000871 11.535 3.465 ECEL1 rs1529874 2:232484878:G:A 2 232484878 G A 2:233349588 0.984939 3270 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified hydrocephalus 0.000192 -2.9869 0.8009 Eosinophilic disease (BM) 0.0003217 -1.458 0.405 ECEL1 rs191821453 2:232485934:G:T 2 232485934 G T 2:233350644 0.966231 4583 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormal products of conception 0.000713 0.327 0.0966 Type 2 diabetes with ketoacidosis 0.0005585 13.885 4.023 ECEL1 rs144928688 2:232486228:G:T 2 232486228 G T 2:233350938 0.947203 5937 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Vertical strabismus 0.000392 1.1954 0.3371 Dislocation, sprain and strain of joints and ligaments of thorax 0.0007302 12.32 3.647 ECEL1 rs564717204 2:232486499:A:G 2 232486499 A G 2:233351209 0.916734 2981 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.000481 -0.2634 0.0755 Phobic anxiety disorders 0.001054 9.959 3.04 PRSS56 rs1550094 2:232520686:G:A 2 232520686 G A 2:233385396 0.990685 68033 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the eye and adnexa 0.000277 -0.0315 0.0087 0.000585 -0.019 0.006 PRSS56 rs61744404 2:232525489:C:G 2 232525489 C G 2:233390199 0.96006 17962 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microphthalmia, isolated 6;not specified Unknown and unspecified causes of morbidity 0.000108 0.4599 0.1188 Injury of urinary and pelvic organs 0.0005775 3.643 1.058 CHRND rs150208750 2:232528561:C:T 2 232528561 C T 2:233393271 0.979999 2953 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Separation of retinal layers (serosa) 0.00138 1.3759 0.43 Maternal care for known or suspected fetal abnormality and damage 0.003341 5.375 1.832 CHRND rs762875734 2:232531350:A:C 2 232531350 A C 2:233396060 0.973673 298 LC both Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast 0.000192 3.1386 0.8415 CHRND rs41265127 2:232531393:C:G 2 232531393 C G 2:233396103 0.982647 833 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Lethal multiple pterygium syndrome;not provided;not specified Maternal care for other known or suspected fetal problems 0.000352 1.054 0.2949 Major coronary heart disease event 0.0001313 2.734 0.715 CHRND rs2229194 2:232533988:C:T 2 232533988 C T 2:233398698 0.994004 2538 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lethal multiple pterygium syndrome;not provided;not specified Other heart diseases 0.000205 0.1845 0.0497 Other retinal artery occlusion 0.001618 55.087 17.473 CHRNG rs148468628 2:232540061:G:A 2 232540061 G A 2:233404771 0.987045 411 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Ovarian cyst 0.000147 0.9926 0.2615 Normotensive glaucoma 0 10.535 0 CHRNG rs2289080 2:232541468:G:A 2 232541468 G A 2:233406178 0.995326 11615 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Myasthenic Syndrome, Dominant/Recessive;Multiple pterygium syndrome Escobar type;not specified Diffuse brain injury 0.00161 -0.5806 0.1841 Non-ischemic cardiomyopathy 0.0007315 0.691 0.204 CHRNG rs145433186 2:232544446:C:T 2 232544446 C T 2:233409156 0.974355 242 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Impacted cerumen 0.00271 3.4703 1.1572 CHRNG rs71421651 2:232545678:C:T 2 232545678 C T 2:233410388 0.953741 2473 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Multiple pterygium syndrome Escobar type;not provided;not specified Other congenital malformations of the digestive system 0.000246 1.8343 0.5003 Corns and callosities 0.0005668 13.033 3.781 KCNJ13 rs1801251 2:232768750:G:A 2 232768750 G A 2:233633460 0.999972 0.248165 22728 68445 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coronary atherosclerosis 9.05e-07 0.0789 0.0161 Other and unspecified disorders of skin and subcutaneous tissue 0.0002339 0.261 0.071 GIGYF2 rs3816334 2:232844096:A:G 2 232844096 A G 2:233708806 0.995994 0.7558 209990 67682 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coronary atherosclerosis 7.39e-07 -0.0801 0.0162 Diabetes-related co-morbidities/complications (more controls excluded) 7.037e-07 -0.034 0.007 ATG16L1 rs2241880 2:233274722:A:G 2 233274722 A G 2:234183368 0.999975 0.439876 71300 90305 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Calculus of kidney and ureter 2.41e-06 0.1131 0.024 Calculus of kidney and ureter 2.297e-05 0.09 0.021 SAG rs7565275 2:233320674:A:G 2 233320674 A G 2:234229320 0.999104 0.0836881 2566 28180 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oguchi's disease;Retinitis Pigmentosa, Recessive Other diseases of peritoneum 9.86e-05 0.4313 0.1108 Obesity due to excess calories 0.0006175 0.334 0.098 SAG rs141521563 2:233320749:G:A 2 233320749 G A 2:234229395 0.8788 143 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Frostbite 0.000805 24.952 7.4459 SAG rs1046974 2:233346901:G:A 2 233346901 G A 2:234255547 0.993797 0.388118 55350 87240 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Urolithiasis 4.52e-05 0.0965 0.0237 Otitis externa 0.0001302 0.114 0.03 SAG rs1046976 2:233346902:T:C 2 233346902 T C 2:234255548 0.992152 30556 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oguchi's disease;Retinitis Pigmentosa, Recessive Injury of intra-abdominal organs 0.00127 0.4996 0.1551 Inflammatory disorders of male genital organs, not elsewhere classified 0.0004663 2.182 0.623 UGT1A7 rs140814031 2:233682289:G:T 2 233682289 G T 2:234590935 0.988175 8083 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Gout, unspecified 0.000227 0.4842 0.1313 Unspecified chronic bronchitis 0.0004747 6.259 1.791 UGT1A7 rs17868323 2:233682324:T:G 2 233682324 T G 2:234590970 0.999577 0.686544 173700 78528 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 5.03e-07 0.7455 0.1483 Disorders of porphyrin and bilirubin metabolism 3.231e-08 0.537 0.097 UGT1A7 rs17868324 2:233682329:G:A 2 233682329 G A 2:234590975 0.999559 0.686664 173672 78600 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of porphyrin and bilirubin metabolism 5.02e-07 0.746 0.1485 Disorders of porphyrin and bilirubin metabolism 3.193e-08 0.537 0.097 UGT1A7 rs11692021 2:233682559:T:C 2 233682559 T C 2:234591205 0.999909 0.445175 73246 90306 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 3.41e-17 1.1933 0.1415 Disorders of porphyrin and bilirubin metabolism 1.126e-16 1.159 0.14 UGT1A6 rs6759892 2:233693023:T:G 2 233693023 T G 2:234601669 0.999998 0.482354 86036 91175 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 2.21e-19 1.2661 0.1406 Disorders of porphyrin and bilirubin metabolism 3.818e-20 1.212 0.132 UGT1A6 rs2070959 2:233693545:A:G 2 233693545 A G 2:234602191 0.999944 0.414061 63450 88671 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 2.21e-19 1.3078 0.1453 Disorders of porphyrin and bilirubin metabolism 1.318e-19 1.388 0.153 UGT1A6 rs1105879 2:233693556:A:C 2 233693556 A C 2:234602202 0.999952 0.451147 75358 90388 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 1.22e-21 1.3686 0.1432 Disorders of porphyrin and bilirubin metabolism 2.541e-23 1.422 0.143 UGT1A5 rs2012736 2:233713733:C:A 2 233713733 C A 2:234622379 0.998541 25065 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified mononeuropathies of upper limb 0.002 -0.4733 0.1532 Disorders of lacrimal system 4.776e-05 0.429 0.106 UGT1A5 rs17862868 2:233713736:G:C 2 233713736 G C 2:234622382 0.998541 25065 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified mononeuropathies of upper limb 0.002 -0.4733 0.1532 Disorders of lacrimal system 4.776e-05 0.429 0.106 UGT1A5 rs3892170 2:233713766:G:C 2 233713766 G C 2:234622412 0.998132 25036 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified mononeuropathies of upper limb 0.00206 -0.4724 0.1533 Disorders of lacrimal system 4.08e-05 0.436 0.106 UGT1A4 rs2011425 2:233718962:T:G 2 233718962 T G 2:234627608 0.992496 21596 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter lamotrigine response - Other Other and unspecified mononeuropathies of upper limb 0.000251 -0.6233 0.1702 Heartburn 0.0002757 1.109 0.305 UGT1A1 rs4148323 2:233760498:G:A 2 233760498 G A 2:234669144 0.999635 14438 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Bilirubin, serum level of, quantitative trait locus 1;Gilbert's syndrome;Irinotecan response;Lucey-Driscoll syndrome;SN-38 response - Other;irinotecan response - Other;not specified Other bursitis, not elsewhere classified 1e-04 1.3717 0.3526 Plantar fascial fibromatosis 0.0007938 1.388 0.414 SPP2 rs34347825 2:234050998:C:T 2 234050998 C T 2:234959642 0.951682 1982 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and/or unspecified nontoxic goitre 0.000756 1.1776 0.3496 Agranulocytosis 0.001606 46.724 14.81 COL6A3 rs148183839 2:237324784:A:G 2 237324784 A G 2:238233427 0.995462 3188 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Collagen VI-related myopathy;not provided;not specified Abscess of external ear 0.00089 2.1735 0.654 Disorders of thyroid, IBD co-morbidities 0.0001515 3.815 1.007 COL6A3 rs1131296 2:237334649:G:A 2 237334649 G A 2:238243292 0.987648 91276 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Left bundle-branch block 0.000251 0.2201 0.0601 Left bundle-branch block 6.442e-06 0.228 0.051 COL6A3 rs2270669 2:237334821:C:G 2 237334821 C G 2:238243464 0.984179 59889 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertensive diseases 0.000468 -0.043 0.0123 Chlocystitis 0.0003143 0.096 0.027 COL6A3 rs201888442 2:237334877:C:T 2 237334877 C T 2:238243520 0.987644 0.000767581 0 282 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Long bones of lower limb 7.93e-05 8.3183 2.1078 COL6A3 rs11690358 2:237336138:T:C 2 237336138 T C 2:238244781 0.999376 30703 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Collagen VI-related myopathy;not provided;not specified Follicular cysts of skin and subcutaneous tissue 0.00054 -0.1853 0.0535 0.0008961 0.12 0.036 COL6A3 rs754064807 2:237336220:TGCA:T 2 237336220 TGCA T 2:238244863 0.994744 32396 inframe_indel both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cutaneous abscess, furuncle and carbuncle 0.000276 -0.1685 0.0463 Transient global amnesia 0.001399 0.521 0.163 COL6A3 rs6728818 2:237336320:A:G 2 237336320 A G 2:238244963 0.985288 76620 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Astigmatism 0.000481 -0.2505 0.0717 Dry age-related macular degeneration (includes geographic atrophy) 0.0004295 -0.088 0.025 COL6A3 rs112928650 2:237336365:G:A 2 237336365 G A 2:238245008 0.977883 10363 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not specified Idiopathic pulmonary fibrosis (attempt to specificity) 0.000311 0.5629 0.1561 Dislocation, sprain and strain of joint and ligaments of hip 0.0001051 5.83 1.503 COL6A3 rs36104025 2:237339091:C:G 2 237339091 C G 2:238247734 0.983832 21655 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Collagen VI-related myopathy;not provided;not specified Other disorders of eyelid 0.000612 0.1484 0.0433 Problems related to social environment 0.0008892 1.88 0.566 COL6A3 rs138466455 2:237340727:G:T 2 237340727 G T 2:238249370 0.990639 0.00115137 0 423 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Gonarthrosis,primary 2.63e-05 0.803 0.1911 COL6A3 rs150165484 2:237344760:G:A 2 237344760 G A 2:238253403 0.974379 791 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperlipidaemia, other/unspecified 0.000958 0.9195 0.2784 COL6A3 rs36117715 2:237353378:G:A 2 237353378 G A 2:238262021 0.980353 4668 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Bethlem myopathy 1;Collagen VI-related myopathy;Ullrich congenital muscular dystrophy 1;not specified Atrophic disorders of skin 0.000138 0.7251 0.1902 Open wound of head 2.822e-05 2.4 0.573 COL6A3 rs368379003 2:237365879:C:T 2 237365879 C T 2:238274522 0.895958 0.000642373 2 234 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Kela-cod for severe mental illness 8.35e-06 2.9247 0.6564 COL6A3 rs77632596 2:237366926:T:C 2 237366926 T C 2:238275569 0.987299 0.011364 44 4131 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not provided;not specified Occupational exposure to risk-factors 5.68e-05 1.7892 0.4444 Cystitis 0.0003321 3.635 1.013 COL6A3 rs114322958 2:237367275:C:T 2 237367275 C T 2:238275918 0.81498 48 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia in other diseases classified elsewhere 0.00117 17.5349 5.403 COL6A3 rs111231885 2:237368568:C:T 2 237368568 C T 2:238277211 0.997688 8755 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not specified Use of antiglaucoma preparations and miotics 4e-04 -0.5468 0.1544 Dislocation, sprain and strain of joint and ligaments of hip 2.756e-05 8.246 1.967 COL6A3 rs61729839 2:237368736:C:T 2 237368736 C T 2:238277379 0.975166 2382 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Bethlem myopathy 1;Collagen VI-related myopathy;Ullrich congenital muscular dystrophy 1;not specified Papulosquamous disorders 0.000616 0.4546 0.1327 Cervical root disorders 0.001011 82.843 25.2 COL6A3 rs80272723 2:237371833:C:T 2 237371833 C T 2:238280476 0.984317 2414 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not provided;not specified Lateral epicondylitis 0.000461 0.7693 0.2196 Superficial injury of abdomen, lower back and pelvis 0.001342 8.96 2.794 COL6A3 rs146092501 2:237371861:C:T 2 237371861 C T 2:238280504 0.996111 10229 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not provided;not specified Spinal enthesopathy 0.00121 0.6536 0.202 Disorders of gallbladder, biliary tract and pancreas 0.0001721 0.51 0.136 COL6A3 rs74425496 2:237372138:A:C 2 237372138 A C 2:238280781 0.901019 85 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tic disorders 0.000451 30.2427 8.6209 COL6A3 rs201314411 2:237372262:C:T 2 237372262 C T 2:238280905 0.98536 995 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Other spirochaetal diseases 0.000254 1.8297 0.5002 Cardiovascular diseases (excluding rheumatic etc) 0 2.525 0 COL6A3 rs11896521 2:237374829:T:G 2 237374829 T G 2:238283472 0.997955 8753 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not provided;not specified Use of antiglaucoma preparations and miotics 0.000394 -0.5474 0.1544 Dislocation, sprain and strain of joint and ligaments of hip 2.842e-05 8.185 1.955 COL6A3 rs201962257 2:237374868:G:A 2 237374868 G A 2:238283511 0.99319 621 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Hernia 0.000278 -0.5102 0.1404 Infections of breast associated with childbirth 0.0008484 97.534 29.233 COL6A3 rs77181645 2:237378645:C:A 2 237378645 C A 2:238287288 0.997912 8751 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not provided;not specified Use of antiglaucoma preparations and miotics 0.000395 -0.5473 0.1545 Dislocation, sprain and strain of joint and ligaments of hip 2.814e-05 8.2 1.958 COL6A3 rs113155945 2:237378714:C:T 2 237378714 C T 2:238287357 0.999136 8771 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not provided;not specified Use of antiglaucoma preparations and miotics 0.000385 -0.5477 0.1543 Dislocation, sprain and strain of joint and ligaments of hip 2.927e-05 8.124 1.944 COL6A3 rs112913396 2:237381124:T:C 2 237381124 T C 2:238289767 0.987617 431 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Larynx (other cancers excluded from controls) 0.000239 6.56 1.7855 COL6A3 rs113897824 2:237381337:G:C 2 237381337 G C 2:238289980 0.993207 3601 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not specified Emotional disorders and disorders of social functioning with onset specific to childhood 0.000503 1.066 0.3064 Fracture of forearm 0.0002163 3.072 0.83 COL6A3 rs112010940 2:237381341:C:G 2 237381341 C G 2:238289984 0.993212 3606 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not specified Emotional disorders and disorders of social functioning with onset specific to childhood 0.000522 1.0609 0.3058 Fracture of forearm 0.0001278 3.445 0.899 COL6A3 rs113716915 2:237387663:G:C 2 237387663 G C 2:238296306 0.993123 492 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other headache syndromes 0.000391 0.9219 0.26 COL6A3 rs35914491 2:237387666:C:T 2 237387666 C T 2:238296309 0.986657 3911 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Collagen VI-related myopathy;not specified Arthropathies in other diseases classified elsewhere 0.000308 1.4489 0.4015 Other and unspecified injuries of ankle and foot 0.0002381 20.716 5.637 COL6A3 rs547651808 2:237387686:G:A 2 237387686 G A 2:238296329 0.946847 271 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Visual disturbances and blindness 0.000977 1.1779 0.3573 COL6A3 rs111402193 2:237387870:C:T 2 237387870 C T 2:238296513 0.968556 0.000623319 0 229 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorder of external ear, unspecified 9.39e-05 12.0259 3.079 PER2 rs80156481 2:238260944:G:T 2 238260944 G T 2:239169585 0.984198 296 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lung diseases due to external agents 0.000318 3.0419 0.8449 TRAF3IP1 rs138469421 2:238329205:G:A 2 238329205 G A 2:239237846 0.964883 1375 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Episcleritis 0.000234 2.3165 0.6296 TRAF3IP1 rs61756349 2:238344536:A:C 2 238344536 A C 2:239253177 0.988683 1526 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of forearm 0.000247 1.4885 0.4061 0.001208 1.417 0.438 HDAC4 rs142766453 2:239082170:C:T 2 239082170 C T 2:240003866 0.885455 171 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of radial nerve 0.00152 7.5804 2.3903 HDAC4 rs61754648 2:239090026:C:T 2 239090026 C T 2:240011722 0.922662 163 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schizophrenia 0.000484 3.4596 0.9914 Subacute thyroiditis 0.0007647 106.605 31.678 HDAC4 rs144555853 2:239134371:C:T 2 239134371 C T 2:240056067 0.996701 420 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of spleen 0.000871 10.3291 3.1026 HDAC4 rs73000144 2:239139704:C:T 2 239139704 C T 2:240061400 0.827054 377 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postprocedural musculoskeletal disorders, not elsewhere classified 0.00046 4.7471 1.3553 HDAC4 rs143274079 2:239156727:C:T 2 239156727 C T 2:240078423 0.989122 2463 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain in throat and chest 0.000748 -0.2456 0.0728 Burn and corrosion of head and neck 0.001004 83.755 25.462 NDUFA10 rs13848 2:240007349:T:C 2 240007349 T C 2:240946766 0.997907 91638 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oligomenorrhoea 0.000181 -0.2504 0.0669 Disorders of globe 0.00025 -0.265 0.072 NDUFA10 rs35462421 2:240011654:C:T 2 240011654 C T 2:240951071 0.898763 0.00164132 2 601 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of muscle and tendon at lower leg level 9.64e-05 2.0061 0.5145 NDUFA10 rs11541494 2:240025297:G:C 2 240025297 G C 2:240964714 0.947823 42939 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vitreous body and globe 0.000171 0.1113 0.0296 Mixed specific developmental disorders 0.003658 0.895 0.308 OR6B2 rs10176036 2:240030066:G:A 2 240030066 G A 2:240969483 0.900284 89741 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oligomenorrhoea 0.000425 -0.2503 0.071 Nonorganic sleeping disorders 0.001663 -0.107 0.034 ANKMY1 rs72998048 2:240529188:G:T 2 240529188 G T 2:241468605 0.939299 135 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of small intestine 0.00304 12.6135 4.2567 CAPN10 rs138005500 2:240587011:C:G 2 240587011 C G 2:241526428 0.983953 8976 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-small cell lung cancer, adenocarcinoma 0.000247 0.8112 0.2213 Erosion and ectropion of cervix uteri 0.0004541 5.449 1.554 CAPN10 rs150113284 2:240594045:G:A 2 240594045 G A 2:241533462 0.981194 3552 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Labour and delivery complicated by intrapartum haemorrhage, not elsewhere classified 0.00041 2.7669 0.783 0.0005386 12.421 3.589 CAPN10 rs140681762 2:240594671:C:T 2 240594671 C T 2:241534088 0.994687 934 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 0.0012 5.9678 1.842 CAPN10 rs184439941 2:240596418:G:A 2 240596418 G A 2:241535835 0.997299 0.0111599 40 4060 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dysplasia of cervi uteri 9.97e-05 0.4843 0.1245 Cardiovascular diseases 3.849e-05 -1.068 0.26 CAPN10 rs201157354 2:240596862:C:T 2 240596862 C T 2:241536279 0.997485 2242 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peritonsillar abscess 0.000822 -0.5638 0.1685 Endometriosis 2.493e-06 3.016 0.64 CAPN10 rs114120181 2:240597889:T:C 2 240597889 T C 2:241537306 0.972267 2712 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed conductive and sensorineural hearing loss 0.00174 0.7066 0.2257 Foreign body on external eye 0.0007476 5.708 1.693 CAPN10 rs146148004 2:240597982:G:A 2 240597982 G A 2:241537399 0.969921 0.00110238 4 401 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of breast 6.91e-05 13.9463 3.5047 Abnormal findings on diagnostic imaging of breast 0.0002845 232.689 64.119 GPR35 rs35146537 2:240630025:G:A 2 240630025 G A 2:241569442 0.985527 6937 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Allergic conjunctivitis 0.000128 0.235 0.0614 Other neurotic disorders 0.001037 4.465 1.361 GPR35 rs139197368 2:240630037:G:A 2 240630037 G A 2:241569454 0.971739 1947 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertrophy of (infrapatellar) fat pad 0.000229 4.2719 1.1595 Ectopic pregnancy 0.000942 14.67 4.436 GPR35 rs61734453 2:240630328:G:A 2 240630328 G A 2:241569745 0.98066 2661 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiac murmurs and other cardiac sounds 0.000121 1.0807 0.2811 Macular pucker 0.0004463 19.36 5.514 GPR35 rs61734452 2:240630457:A:G 2 240630457 A G 2:241569874 0.898685 348 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at lower leg level 0.000244 2.4134 0.6579 KIF1A rs191428830 2:240719906:C:T 2 240719906 C T 2:241659323 0.973128 4792 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;Intellectual Disability, Dominant;Mental retardation, autosomal dominant 9;Spastic Paraplegia, Recessive;Spastic paraplegia 30, autosomal recessive;not provided;not specified Malignant neoplasm of breast 0.000875 0.3078 0.0925 Hypopituitarism 0.002655 6.546 2.178 KIF1A rs141441058 2:240722517:G:A 2 240722517 G A 2:241661934 0.873182 914 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIC;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Mental retardation, autosomal dominant 9;Mental retardation, autosomal dominant 9;Spastic Paraplegia, Recessive;Spastic paraplegia 30, autosomal recessive;not provided;not specified Ulcerative ileocolitis 0.000587 2.6306 0.7652 Separation of retinal layers (serosa) 0.0006319 99.058 28.985 KIF1A rs143037290 2:240745853:G:A 2 240745853 G A 2:241685270 0.984051 0.00256949 8 936 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary sensory and autonomic neuropathy type IIC;History of neurodevelopmental disorder;Mental retardation, autosomal dominant 9;Spastic paraplegia 30, autosomal recessive;not provided;not specified Hypertensive Renal Disease 3.09e-05 3.7826 0.9078 Other disorders of eyelid 0.00045 10.148 2.892 AGXT rs115014558 2:240868891:C:A 2 240868891 C A 2:241808308 0.987856 5067 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary hyperoxaluria, type I;not specified Diabetes, insuline treatment (Kela reimbursement) 0.00028 -0.1765 0.0486 Other bursitis, not elsewhere classified 0.0001462 25.754 6.782 AGXT rs180177191 2:240868893:C:T 2 240868893 C T 2:241808310 0.947476 168 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Loose body in joint 0.00069 11.1242 3.2779 AGXT rs34116584 2:240868897:C:T 2 240868897 C T 2:241808314 0.995765 65188 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of intestine 0.000156 0.2168 0.0573 Burns and corrosions 5.612e-05 0.232 0.058 AGXT rs142969817 2:240868900:A:G 2 240868900 A G 2:241808317 0.933717 539 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specified congenital malformation syndromes affecting multiple systems 0.0013 5.5867 1.7368 AGXT rs34885252 2:240868930:A:G 2 240868930 A G 2:241808347 0.989776 0.000756693 2 276 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other noninfective disordersof lymphatic vessels and lymph nodes 4.23e-05 9.9561 2.4315 AGXT rs117195882 2:240873011:C:T 2 240873011 C T 2:241812428 0.991456 280 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Vagina (other cancers excluded from controls) 0.00026 15.5295 4.252 AGXT rs34664134 2:240873044:G:A 2 240873044 G A 2:241812461 0.992352 313 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of thyroid gland 0.000277 3.9861 1.0963 AGXT rs140992177 2:240875994:T:C 2 240875994 T C 2:241815411 0.974209 0.000721308 0 265 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis of rectovaginal septum and vagina 5.43e-06 5.333 1.1727 AGXT rs4426527 2:240878099:A:G 2 240878099 A G 2:241817516 0.999948 66315 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Other/unspecified site 0.000397 0.4589 0.1296 Burns and corrosions 0.0002681 0.203 0.056 AGXT rs151185188 2:240878784:G:A 2 240878784 G A 2:241818201 0.993005 263 missense_variant recessive Uncertain significance VUS no assertion criteria provided no_Criteria Benign neoplasm: Vagina (other cancers excluded from controls) 0.000213 16.6022 4.4828 PASK rs56139954 2:241124043:C:T 2 241124043 C T 2:242063458 0.987433 0.0401374 636 14110 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma (only as main-diagnosis) (more controls excluded) 4.48e-05 -0.1425 0.0349 2.519e-05 1.584 0.376 HDLBP rs144379709 2:241264600:T:C 2 241264600 T C 2:242204015 0.989789 7675 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cleft lip and cleft palate 0.00029 1.7926 0.4946 Ascites 0.0009592 4.893 1.482 FARP2 rs61739735 2:241373240:C:T 2 241373240 C T 2:242312655 0.987594 689 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Allergic purpura 0.000302 3.9595 1.0958 FARP2 rs139008133 2:241462601:G:A 2 241462601 G A 2:242402016 0.997657 2122 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of abdomen, lower back and pelvis 0.000854 2.0049 0.6012 Other specified disorders of external ear 0.00595 18.143 6.596 D2HGDH rs4675887 2:241735267:C:G 2 241735267 C G 2:242674682 0.944646 4009 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter D-2-hydroxyglutaric aciduria;not provided;not specified Other ulcerative colitis 0.000184 1.1499 0.3074 Abnormal blood-pressure reading, without diagnosis 2.585e-05 48.113 11.436 D2HGDH rs77940364 2:241735388:G:A 2 241735388 G A 2:242674803 0.972222 77877 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral palsy 0.000417 -0.3792 0.1075 Ulcerative ileocolitis 0.001076 0.258 0.079 D2HGDH rs147210645 2:241744744:C:A 2 241744744 C A 2:242684159 0.931868 1268 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Attention to artificial openings 0.000417 3.4504 0.9777 Motor neuron disease (with DMD) 9.49e-05 209.389 53.644 D2HGDH rs35386923 2:241748951:C:T 2 241748951 C T 2:242688366 0.986065 89624 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes, opthalmic co-morbidities 0.000336 -0.2532 0.0706 Ulcerative colitis, NAS 0.0002482 0.12 0.033 D2HGDH rs1106639 2:241751260:G:A 2 241751260 G A 2:242690675 0.988695 0.246309 22566 67925 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma (only as main-diagnosis) 1.05e-05 -0.0702 0.0159 Long labour 0.001476 -0.14 0.044 D2HGDH rs139321130 2:241751311:G:A 2 241751311 G A 2:242690726 0.947479 0.0336048 456 11890 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter D-2-hydroxyglutaric aciduria;not provided;not specified Respiratory conditions due to other external agents 5.37e-05 1.5309 0.3791 Other acquired deformities of musculoskeletal system and connective tissue 0.0001634 3.452 0.916 D2HGDH rs1105273 2:241751330:C:T 2 241751330 C T 2:242690745 0.986358 0.139161 7188 43938 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma (more controls excluded) 8.75e-06 0.0831 0.0187 Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 0.0003825 0.377 0.106 D2HGDH rs149504235 2:241755966:G:A 2 241755966 G A 2:242695381 0.989142 1009 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter D-2-hydroxyglutaric aciduria;D-2-hydroxyglutaric aciduria 1;not provided;not specified Other diseases of urinary system 0.000391 0.3828 0.1079 Other intracranial haemorrhages 0.002046 44.626 14.472 D2HGDH rs146578303 2:241755984:G:A 2 241755984 G A 2:242695399 0.952476 9814 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter D-2-hydroxyglutaric aciduria;not provided;not specified Inflammation of lacrimal passages (acute and unspecified) 0.00043 1.3067 0.3711 Inflammation of lacrimal passages (acute and unspecified) 0.001538 7.792 2.46 GAL3ST2 rs78620448 2:241776985:G:A 2 241776985 G A 2:242716400 0.989308 505 pLoF unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other bacterial diseases 0.000897 0.5662 0.1705 CHL1 rs145162591 3:394701:A:T 3 394701 A T 3:436384 0.911125 802 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arterial embolism and thrombosis 0.000364 2.8547 0.8008 Type 2 diabetes 1.921e-05 3.932 0.92 CNTN6 rs41293401 3:1321796:G:A 3 1321796 G A 3:1363480 0.953589 2314 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteonecrosis 0.000988 1.5955 0.4844 Other and specified injuries of hip and thigh 0.002654 37.298 12.411 CNTN4 rs146888168 3:3042361:A:T 3 3042361 A T 3:3084045 0.980014 1017 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 0.000681 1.6006 0.4712 TRNT1 rs187921784 3:3147456:C:G 3 3147456 C G 3:3189140 0.983427 2534 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonalcoholic fatty liver disease 0.000141 1.4162 0.3721 Benign neoplasm: Skin of lower limb, including hip (other cancers excluded from controls) 0.002324 41.018 13.469 TRNT1 rs760473412 3:3147692:T:G 3 3147692 T G 3:3189376 0.948227 364 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Panic disorder 0.000109 2.487 0.6427 CRBN rs78564552 3:3175249:C:T 3 3175249 C T 3:3216933 0.984929 757 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Biliary chirrosis, primary 0.000862 4.802 1.4412 Monoarthritis, not elsewhere classified 0.001384 63.644 19.902 SUMF1 rs137917233 3:4418071:C:G 3 4418071 C G 3:4459755 0.976444 308 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Conjunctiva (other cancers excluded from controls) 0.000486 7.6726 2.1995 SUMF1 rs2819590 3:4467058:C:T 3 4467058 C T 3:4508742 0.997377 73611 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm 0.000708 0.0359 0.0106 Pyoderma 0.0003484 0.474 0.133 SUMF1 rs200789939 3:4467118:G:A 3 4467118 G A 3:4508802 0.97321 0.00338879 6 1239 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of neck 1.78e-05 5.5314 1.2891 Coronary atherosclerosis 3.517e-06 2.168 0.467 ITPR1 rs41289628 3:4663132:G:A 3 4663132 G A 3:4704816 0.992047 864 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spinocerebellar Ataxia, Dominant;not provided Alzheimer's disease, wide definition (more controls excluded) 0.000289 1.0609 0.2927 Seropositive rheumatoid arthritis, strict definition 0.001417 57.24 17.936 ITPR1 rs35789999 3:4673236:A:G 3 4673236 A G 3:4714920 0.977448 8271 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinocerebellar Ataxia, Dominant Other ill-defined and unspecified causes of mortality 0.000357 1.1556 0.3237 5.546e-05 -0.563 0.14 ITPR1 rs61751570 3:4683761:A:G 3 4683761 A G 3:4725445 0.995054 3351 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinocerebellar Ataxia, Dominant;Spinocerebellar ataxia 29 Vasomotor and allergic rhinitis 0.00109 0.3381 0.1035 Benign neoplasm: Long bones of lower limb (other cancers excluded from controls) 7.658e-05 34.626 8.755 ITPR1 rs143093165 3:4766606:T:G 3 4766606 T G 3:4808290 0.879824 0.000451838 2 164 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Male infertility 8.06e-05 8.2052 2.0811 ITPR1 rs201144431 3:4800592:G:A 3 4800592 G A 3:4842276 0.991203 0.00161138 4 588 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spinocerebellar Ataxia, Dominant;not specified Benign neoplasm: Stomach 5.08e-05 2.8704 0.7084 Other overlap syndromes 0.0002686 263.677 72.363 SSUH2 rs112366230 3:8633761:C:T 3 8633761 C T 3:8675447 0.850304 0.00121942 6 442 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conjunctivitis 2.97e-05 0.8952 0.2144 Foreign body in alimentary tract 0.001168 79.331 24.435 CAV3 rs72546668 3:8745644:C:T 3 8745644 C T 3:8787330 0.989431 1215 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 2/9, digenic;Long QT syndrome 9;not provided;not specified Synovial hypertrophy, not elsewhere classified 0.00103 4.59 1.3983 Other acute viral hepatitis 0.00034 213.273 59.528 OXTR rs143927655 3:8753132:C:T 3 8753132 C T 3:8794818 0.95972 335 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes mellitus in pregnancy 3e-04 1.6065 0.4444 SETD5 rs117354149 3:9464601:T:C 3 9464601 T C 3:9506285 0.942287 428 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Torsion of ovary, ovarian pedicle and fallobian tube 0.000478 7.4829 2.1425 MTMR14 rs189614064 3:9669457:T:A 3 9669457 T A 3:9711141 0.954894 0.00189445 2 694 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperfunction of pituitary gland 4.9e-05 3.5158 0.8659 OGG1 rs104893751 3:9750423:G:A 3 9750423 G A 3:9792107 0.982219 228 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Acute otitis externa, noninfective 0.000526 12.2437 3.5315 CIDEC rs17222536 3:9867251:G:A 3 9867251 G A 3:9908935 0.987482 52480 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria Diseases of the skin and subcutaneous tissue 0.000302 0.0388 0.0107 Hypermetropia 0.0002108 0.477 0.129 CIDEC rs79419480 3:9877092:A:G 3 9877092 A G 3:9918776 0.974847 0.00507093 12 1851 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Cerebral cysts 6.94e-05 2.0613 0.5182 Foreign body on external eye 0.0001808 19.354 5.169 CIDEC rs61742367 3:9877127:G:A 3 9877127 G A 3:9918811 0.97295 4498 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Pruritus 0.0011 0.6778 0.2077 Nonorganic sleeping disorders 0.0002958 7.147 1.975 CIDEC rs150971509 3:9877134:C:T 3 9877134 C T 3:9918818 0.931913 1093 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other complications of labour and delivery, not elsewhere classified 0.00133 1.6807 0.5237 JAGN1 rs143438463 3:9890723:A:G 3 9890723 A G 3:9932407 0.992204 8777 start_lost recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Toxic effect of ethanol 0.000322 0.7044 0.1958 Foreign body in alimentary tract 0.0001651 5.116 1.358 JAGN1 rs35365817 3:9893069:A:G 3 9893069 A G 3:9934753 0.979826 4518 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Severe congenital neutropenia 6, autosomal recessive Superficial injury of ankle and foot 0.000988 0.6565 0.1993 Nonorganic sleeping disorders 0.0003487 6.834 1.911 IL17RE rs12492494 3:9902952:C:T 3 9902952 C T 3:9944636 0.936843 480 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fever of other and unknown origin 0.000673 0.8341 0.2453 IL17RC rs148170215 3:9917948:G:A 3 9917948 G A 3:9959632 0.978169 0.00495117 10 1809 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Candidiasis, familial, 9 Cerebral cysts 3.56e-05 2.2003 0.5322 Foreign body on external eye 0.0001444 20.665 5.437 IL17RC rs143412184 3:9918069:G:A 3 9918069 G A 3:9959753 0.992341 0.00194889 2 714 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of biliary tract 7.9e-05 2.6857 0.6804 IL17RC rs75692599 3:9923898:G:A 3 9923898 G A 3:9965582 0.976996 6424 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Candidiasis, familial, 9 Atopic dermatitis, strict definition with reimbursement 0.00247 0.2657 0.0878 Vascular dementia (subcortical) 0.001028 9.908 3.018 IL17RC rs117441424 3:9928197:C:T 3 9928197 C T 3:9969881 0.923475 0.000152427 0 56 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of meninges 5.37e-05 13.4545 3.3311 IL17RC rs143600903 3:9928346:C:T 3 9928346 C T 3:9970030 0.983131 636 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Left bundle-branch block 0.000581 2.7959 0.8127 IL17RC rs145516404 3:9928379:G:A 3 9928379 G A 3:9970063 0.988749 0.0171944 106 6211 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of patella 8.38e-05 0.4215 0.1072 Myeloproliferative diseases (CML excluded) 0.0001451 9.099 2.395 IL17RC rs115461448 3:9928397:G:A 3 9928397 G A 3:9970081 0.963346 3869 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Candidiasis, familial, 9 General examination and investigation of persons without complaint and reported diagnosis 0.000474 -0.2236 0.064 Abnormal involuntary movements 0.0002115 8.585 2.317 IL17RC rs11719981 3:9928404:C:T 3 9928404 C T 3:9970088 0.962697 191 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transient global amnesia 0.00202 3.8529 1.2483 IL17RC rs115419420 3:9928437:C:T 3 9928437 C T 3:9970121 0.969984 11218 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Candidiasis, familial, 9 Disorder of lipoprotein metabolism, unspecified 0.00072 0.4026 0.1191 Torticollis 0.000475 6.576 1.882 IL17RC rs148575246 3:9932859:G:C 3 9932859 G C 3:9974543 0.974081 1485 pLoF recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Candidiasis, familial, 9 Guttate psoriasis 0.00184 3.8887 1.2481 Chronic hepatitis, not elsewhere classified 0.001729 51.774 16.524 IL17RC rs141404925 3:9933198:A:G 3 9933198 A G 3:9974882 0.993175 590 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Candidiasis, familial, 9 Other abnormal findings of blood chemistry 0.000429 5.7798 1.6414 Kela-cod for severe mental illness 0 30.714 0 IL17RC rs201296441 3:9933292:T:C 3 9933292 T C 3:9974976 0.802137 168 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Non-small cell lung cancer, adenocarcinoma 0.00155 6.8941 2.1787 CRELD1 rs76764016 3:9943412:G:A 3 9943412 G A 3:9985096 0.981756 6909 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrioventricular septal defect 2;not specified Benign neoplasm: Short bones of upper limb (other cancers excluded from controls) 0.000968 1.4891 0.4513 Melanocytic naevi, other sites/unspecified (other cancers excluded from controls) 0.0005585 5.935 1.72 FANCD2 rs145522204 3:10052475:A:G 3 10052475 A G 3:10094159 0.982755 1978 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not provided;not specified Disorders of synovium and tendon in diseases classified elsewhere 0.00042 3.1806 0.9017 Contusion of other and unspecified parts of foot 0.001114 73.526 22.554 FANCD2 rs35495399 3:10073349:G:T 3 10073349 G T 3:10115033 0.989988 8167 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Alcohol related diseases, tilastokeskus definition, death only 0.000271 0.6503 0.1786 Pneumonia due to other infectious organisms, not elsewhere classified 0.0001639 9.016 2.392 FANCD2 rs201811817 3:10073363:G:A 3 10073363 G A 3:10115047 0.989971 0.000949949 0 349 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Meralgia paraesthetica 8.26e-05 8.3685 2.1257 FANCD2 rs200971205 3:10074615:C:G 3 10074615 C G 3:10116299 0.949756 207 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Sleep apnoea 0.000305 1.0657 0.2952 VHL rs35460768 3:10141921:C:T 3 10141921 C T 3:10183605 0.956483 483 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kyphosis 0.000678 11.253 3.3112 VHL rs768650092 3:10141962:G:C 3 10141962 G C 3:10183646 0.894563 0.00105883 0 389 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vertigo of central origin 8.14e-05 12.3415 3.1321 GHRL rs4684677 3:10286769:T:A 3 10286769 T A 3:10328453 0.99501 42180 missense_variant both risk factor risk factor no assertion criteria provided no_Criteria Placenta praevia 0.000497 0.3506 0.1007 Open wound of abdomen, lower back and pelvis 8.765e-05 0.993 0.253 GHRL rs696217 3:10289773:G:T 3 10289773 G T 3:10331457 0.996837 38459 missense_variant both Pathogenic, risk factor risk factor no assertion criteria provided no_Criteria Disorders of synovium and tendon in diseases classified elsewhere 0.000123 -0.6217 0.1619 Sacrococcygeal disorders, not elsewhere classified 7.689e-05 0.952 0.241 GHRL rs34911341 3:10289835:C:T 3 10289835 C T 3:10331519 0.976057 8524 missense_variant both risk factor risk factor no assertion criteria provided no_Criteria Metabolic syndrome, susceptibility to;Obesity Dementia due to Parkinsons disease 0.000465 1.1554 0.3301 Macular cyst 0.0002652 19.817 5.434 ATP2B2 rs61736451 3:10359892:C:T 3 10359892 C T 3:10401576 0.97783 466 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the circulatory and respiratory systems 0.000293 0.4164 0.115 ATP2B2 rs150683478 3:10359934:C:T 3 10359934 C T 3:10401618 0.995204 0.00231907 4 848 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other necrotizing vasculopathies 8.13e-05 2.6877 0.6821 Gonarthrosis,primary 0 3.056 0 SLC6A1 rs112095333 3:11029272:C:A 3 11029272 C A 3:11070958 0.988594 564 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Myoclonic-atonic epilepsy;not provided Other vitreous opacities 0.000522 4.3488 1.2536 Keratoconus 0.0005687 138.004 40.046 HRH1 rs2067466 3:11259094:G:C 3 11259094 G C 3:11300780 0.978881 2550 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified disorders of synovium and tendon +Other specified/unspecified bursopathies 0.000223 1.5059 0.4079 Sequelae of injuries, of poisoning and of other consequences of external causes 6.461e-05 6.211 1.555 PPARG rs1801282 3:12351626:C:G 3 12351626 C G 3:12393125 0.999961 0.168789 10730 51281 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes, definitions combined 9.76e-12 -0.1073 0.0158 Obesity, other/unspecified 0.000345 0.194 0.054 TSEN2 rs12495784 3:12489922:G:A 3 12489922 G A 3:12531421 0.996031 3932 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pontoneocerebellar hypoplasia;not specified Endovascular or surgical operations to intracerebral aneurysms 0.000795 1.1255 0.3355 Other specified congenital malformation syndromes affecting multiple systems 3.555e-05 47.729 11.544 TSEN2 rs33955793 3:12503330:G:A 3 12503330 G A 3:12544829 0.996067 26822 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pontoneocerebellar hypoplasia;not specified Calcific tendinitis of shoulder 0.000227 0.3903 0.1059 Other/unspecified dorsalgia 1.812e-05 0.373 0.087 RAF1 rs201776526 3:12608762:T:C 3 12608762 T C 3:12650261 0.963998 0.00869925 54 3142 LC dominant Likely benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Female genital prolapse 7.7e-05 0.4236 0.1071 Superficial injury of neck 8.504e-05 32.97 8.39 IQSEC1 rs185165059 3:12901261:C:G 3 12901261 C G 3:12942760 0.956917 664 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic tubulo-interstitial nephritis 0.00195 2.6425 0.8531 IQSEC1 rs17541405 3:12908502:C:T 3 12908502 C T 3:12950002 0.973935 643 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD, hospital admissions 3, with pneumonia sepsis 0.00261 2.1467 0.7131 NUP210 rs114096350 3:13339919:C:T 3 13339919 C T 3:13381419 0.978809 4347 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylolisthesis/Spondylolysis 0.000227 0.5464 0.1482 Thrombocytopenia, unspecified 0.0008373 9.038 2.706 NUP210 rs2271502 3:13343248:A:G 3 13343248 A G 3:13384748 0.994109 1311 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of ovary 0.000617 1.95 0.5695 Diabetes-related co-morbidities/complications (more controls excluded) 0 3.39 0 FBLN2 rs111389908 3:13571286:G:A 3 13571286 G A 3:13612786 0.93945 1151 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glomerular diseases 0.000322 0.8731 0.2427 TMEM43 rs4685076 3:14132927:A:T 3 14132927 A T 3:14174427 0.999504 75025 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unsepecified deforming dorsopathies 0.000732 0.3319 0.0983 Coronary atherosclerosis 0.0004696 0.062 0.018 TMEM43 rs2340917 3:14133762:T:C 3 14133762 T C 3:14175262 0.998409 77060 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Female infertility, associated with anovulation 0.00139 0.1784 0.0558 Other acquired deformities of musculoskeletal system and connective tissue 0.00225 0.23 0.075 TMEM43 rs730880226 3:14135891:G:A 3 14135891 G A 3:14177391 0.898808 184 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pneumoconiosis due to asbestos and other mineral fibres 0.000288 14.7529 4.0684 TMEM43 rs113449357 3:14139231:C:T 3 14139231 C T 3:14180731 0.995909 0.0315933 366 11241 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 5;Cardiomyopathy;Cardiovascular phenotype;not provided;not specified Faecal incontinence 8.58e-05 0.5605 0.1427 Fracture of skull and facial bones 0.0006364 1.278 0.374 TMEM43 rs187262922 3:14141653:G:C 3 14141653 G C 3:14183153 0.996288 1110 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Anisometropia and aniseikonia 0.000724 3.3003 0.9764 RP11-434D12.1 rs2470352 3:14145330:A:T 3 14145330 A T 3:14186830 0.998571 66002 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Specific development disorders of speech and language 0.00017 0.2621 0.0697 Osteonecrosis 0.0001401 0.423 0.111 XPC rs2228001 3:14145949:G:T 3 14145949 G T 3:14187449 0.999891 78286 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Myeloproliferative diseases 0.000443 0.2146 0.0611 Hydronephrosis 7.2e-05 0.124 0.031 XPC rs2228000 3:14158387:G:A 3 14158387 G A 3:14199887 0.999225 82650 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seronegative rheumatoid arthritis 0.000598 -0.1386 0.0404 Macular pucker 0.0002113 0.191 0.051 XPC rs2227999 3:14158408:C:T 3 14158408 C T 3:14199908 0.998102 0.0307631 400 10902 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Xeroderma pigmentosum;not specified Third [oculomotor] nerve palsy 9.97e-05 1.3695 0.3519 Abdominal and pelvic pain 0.0009466 -0.296 0.09 XPC rs182616621 3:14158440:C:A 3 14158440 C A 3:14199940 0.995435 8117 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Lymphoid leukaemia (other cancers excluded from controls) 0.000108 0.9132 0.2359 Cervicocranial syndrome 4.074e-05 3.528 0.86 XPC rs184879571 3:14164841:G:C 3 14164841 G C 3:14206341 0.998506 10000 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Xeroderma pigmentosum;not specified Malignant neoplasm of kidney, except renal pelvis 0.00056 -0.5477 0.1587 Other and specified injuries of hip and thigh 0.0001138 10.261 2.659 XPC rs2229089 3:14173024:G:A 3 14173024 G A 3:14214524 0.995609 17600 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Xeroderma pigmentosum;not specified Other, unspecified and serous retinal detachments 0.000684 0.6647 0.1958 Other aneurysm 0.0005079 2.136 0.614 XPC rs1870134 3:14178523:G:C 3 14178523 G C 3:14220023 0.999425 4657 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Xeroderma pigmentosum;not specified Mixed hyperlipidaemia 0.00142 1.0589 0.3319 Disorders of skin appendages 0.0004062 2.159 0.611 CCDC174 rs142816619 3:14661587:G:A 3 14661587 G A 3:14703094 0.947445 451 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other otitis externa (chronic) 0.00114 3.0122 0.9258 CCDC174 rs145478230 3:14666920:G:A 3 14666920 G A 3:14708427 0.996372 1002 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of oesophagus 0.000208 1.6719 0.4508 Benign neoplasm: Lip (other cancers excluded from controls) 0.001185 72.981 22.507 FGD5 rs144177006 3:14820869:C:T 3 14820869 C T 3:14862376 0.931962 2277 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Pancreas 0.00119 3.5133 1.0835 CR(E)ST syndrome 0.001227 68.136 21.079 RBSN rs144008665 3:15074864:C:T 3 15074864 C T 3:15116371 0.991844 2537 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria not provided Benign neoplasm: Adrenal gland (other cancers excluded from controls) 0.000127 1.7046 0.4448 Other melanin hyperpigmentation 1.816e-05 65.674 15.321 COLQ rs6782980 3:15458206:T:C 3 15458206 T C 3:15499713 0.990533 5025 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Myasthenic Syndrome, Recessive;Endplate acetylcholinesterase deficiency;not specified Malignant neoplasm of eye, brain and central nervous system 0.000929 0.5981 0.1806 Lesion of ulnar nerve 0.0008131 5.123 1.53 COLQ rs878945 3:15467820:C:G 3 15467820 C G 3:15509327 0.998516 85709 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonorganic sleeping disorders (more controls excluded) 0.000371 -0.1439 0.0404 Other facial nerve disorders 0.0009387 0.297 0.09 COLQ rs2305616 3:15474188:C:T 3 15474188 C T 3:15515695 0.995889 84642 pLoF recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Synovial cyst of popliteal space [Baker] 0.000172 0.2039 0.0543 Other disorders of amniotic fluid and membranes 0.0009986 0.138 0.042 HACL1 rs41284033 3:15573200:C:T 3 15573200 C T 3:15614707 0.966864 2925 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.00226 0.6314 0.2068 COPD related to chronic (opportunist) infections 0.00187 47.849 15.385 BTD rs34885143 3:15635512:G:A 3 15635512 G A 3:15677019 0.996757 9205 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Biotinidase deficiency;Biotinidase deficiency;Biotinidase deficiency;not provided;not specified Injuries to the shoulder and upper arm 0.001 0.1362 0.0414 Fitting and adjustment of other devices 1.931e-05 1.705 0.399 BTD rs151071780 3:15635641:C:G 3 15635641 C G 3:15677148 0.991352 3957 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Biotinidase deficiency Abnormal findings on antenatal screening of mother 0.000378 1.042 0.2931 Other disorders of male genital organs 0.001067 10.265 3.137 BTD rs35034250 3:15645027:C:T 3 15645027 C T 3:15686534 0.996804 4156 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Biotinidase deficiency;Biotinidase deficiency;not specified Other eating disorders 0.000351 1.0642 0.2977 Chalazion 0.0004292 6.323 1.796 BTD rs201023772 3:15645061:A:G 3 15645061 A G 3:15686568 0.967403 162 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bacterial pneumonia, not elsewhere classified 0.00106 1.7726 0.5414 BTD rs13078881 3:15645186:G:C 3 15645186 G C 3:15686693 0.998163 17745 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Biotinidase deficiency;Biotinidase deficiency;Biotinidase deficiency;Biotinidase deficiency;Biotinidase deficiency;Biotinidase deficiency;not provided Skin changes due to chronic exposure to nonionizing radiation 0.00114 -0.183 0.0562 Peripheral atherosclerosis 0.0002485 0.606 0.165 EFHB rs145933876 3:19896743:T:G 3 19896743 T G 3:19938235 0.931073 946 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 0.00038 -0.3489 0.0982 0 2.246 0 KAT2B rs148960024 3:20147980:C:A 3 20147980 C A 3:20189472 0.99111 0.032497 450 11489 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pyothorax 8.66e-05 0.8881 0.2262 Presbycusis 6.214e-05 2.455 0.613 TOP2B rs200930765 3:25624777:A:T 3 25624777 A T 3:25666268 0.987603 469 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.00109 -0.6194 0.1897 Disorders of synovium and tendon in diseases classified elsewhere 0.0005849 128.832 37.467 NEK10 rs141057699 3:27297207:T:C 3 27297207 T C 3:27338698 0.862692 0.000568881 0 209 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes, strict (exclude DM1) 9.31e-05 0.9885 0.253 EOMES rs200789175 3:27722279:G:C 3 27722279 G C 3:27763770 0.95115 825 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of the puerperium, not elsewhere classified 0.000195 3.8882 1.0437 Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system 0.0005295 131.816 38.038 TGFBR2 rs61732532 3:30623222:G:A 3 30623222 G A 3:30664714 0.992962 1542 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of breast 0.00136 -0.4506 0.1406 TGFBR2 rs35719192 3:30672302:G:A 3 30672302 G A 3:30713794 0.855521 96 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of nervous system 0.000216 10.2706 2.7758 TGFBR2 rs35766612 3:30672342:G:A 3 30672342 G A 3:30713834 0.984834 526 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Calculus of lower urinary tract 0.00213 3.0342 0.9878 GPD1L rs72552293 3:32140231:A:G 3 32140231 A G 3:32181723 0.996008 4861 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Brugada syndrome;Brugada syndrome 2;Cardiovascular phenotype;Long QT syndrome;Primary familial hypertrophic cardiomyopathy;SUDDEN INFANT DEATH SYNDROME;not specified Attention to artificial openings 0.000933 1.4289 0.4317 Persons with potential health hazards related to family and personal history and certain conditions influencing health status 0.0002984 1.225 0.339 GLB1 rs73826339 3:33014196:T:C 3 33014196 T C 3:33055688 0.994843 15275 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter GM1 gangliosidosis;GM1 gangliosidosis;Morquio syndrome;Mucopolysaccharidosis, MPS-IV-B;not specified Small cell lung cancer 0.000167 1.1417 0.3033 Arthrosis 0.001354 -0.285 0.089 GLB1 rs34421970 3:33018489:G:A 3 33018489 G A 3:33059981 0.998487 4665 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter GM1 gangliosidosis type 2;Gangliosidosis GM1 type 3;Infantile GM1 gangliosidosis;Mucopolysaccharidosis, MPS-IV-B;not specified Left bundle-branch block 0.000681 0.9106 0.268 Social disorders starting during childhood or adolecense (more controls excluded) 0.0003639 184.874 51.859 GLB1 rs111840209 3:33058199:C:T 3 33058199 C T 3:33099691 0.95788 1723 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abscess of anal and rectal regions 0.000337 1.3336 0.372 Other/unspecified cytomegaloviral diseases 0.0005841 134.947 39.242 GLB1 rs35289681 3:33068891:G:A 3 33068891 G A 3:33110383 0.996877 15833 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter GM1 gangliosidosis;Morquio syndrome;not provided;not specified Acute sinusitis 0.000312 0.1369 0.038 Other and unspecified psoriasis 0.002985 1.701 0.573 GLB1 rs369627064 3:33097008:T:TA 3 33097008 T TA 3:33138500 0.861012 459 LC recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of labour and delivery 0.000366 0.6235 0.175 GLB1 rs7637099 3:33097057:G:A 3 33097057 G A 3:33138549 0.985509 87809 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Volume depletion 0.000443 0.1856 0.0528 Atopic dermatitis 0.0002237 0.056 0.015 CRTAP rs200576259 3:33114126:G:A 3 33114126 G A 3:33155618 0.962714 615 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cyst of Bartholin Gland 0.000335 3.8766 1.0809 CRTAP rs766784647 3:33114162:G:C 3 33114162 G C 3:33155654 0.901211 230 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Varicose veins 0.000701 -1.0331 0.3048 CRTAP rs145048208 3:33124441:G:A 3 33124441 G A 3:33165933 0.984545 336 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral infections characterized by skin and mucous membrane lesions 0.000231 1.5791 0.4288 CRTAP rs115198029 3:33132671:C:T 3 33132671 C T 3:33174163 0.86415 187 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypothyroidism, drug reimbursement 0.000121 2.2179 0.5768 Benign neoplasm: Cranial nerves 0.0006662 121.06 35.573 PDCD6IP rs76608858 3:33842000:G:A 3 33842000 G A 3:33883492 0.923594 0.00328808 18 1190 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital obstructive defects of renal pelvis and congenital malformations of ureter 1.17e-05 6.0426 1.3788 3.21e-05 9.412 2.264 MLH1 rs730881746 3:36993566:G:T 3 36993566 G T 3:37035057 0.964143 381 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Von Willebrand disease 0.000341 13.9272 3.8878 MLH1 rs1799977 3:37012077:A:G 3 37012077 A G 3:37053568 0.999574 76596 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Adhesive capsulitis of shoulder 0.000178 -0.1239 0.033 Chronic ulcer of skin, not elsewhere classified 0.001372 0.239 0.075 MLH1 rs775776362 3:37025825:G:C 3 37025825 G C 3:37067316 0.893208 187 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter COPD 0.000789 1.5623 0.4654 MLH1 rs35831931 3:37050528:G:A 3 37050528 G A 3:37092019 0.998214 0.00211765 0 778 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Autoimmune diseases related-to ILD 3.67e-06 0.6495 0.1403 GOLGA4 rs142972537 3:37323682:A:T 3 37323682 A T 3:37365173 0.984841 1548 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinal vascular occlusion 0.00172 1.0238 0.3267 Primary ovarian failure 0.0005866 131.894 38.366 ITGA9 rs267561 3:37533460:G:A 3 37533460 G A 3:37574951 0.999473 90441 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Need for immunization against other single viral diseases 0.00023 -0.3266 0.0887 Disorders of conjunctiva 0.0001936 -0.038 0.01 ITGA9 rs2282485 3:37629385:G:C 3 37629385 G C 3:37670876 0.992709 69525 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diaphragmatic hernia 0.00028 -0.0938 0.0258 Diaphragmatic hernia 0.0004512 -0.113 0.032 PLCD1 rs375683615 3:38009108:C:T 3 38009108 C T 3:38050599 0.984057 0.000911843 0 335 missense_variant both Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Follicular cysts of skin and subcutaneous tissue 4.65e-05 2.4575 0.6035 SCN5A rs45489199 3:38550356:G:C 3 38550356 G C 3:38591847 0.987273 540 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Protozoal diseases 0.00168 5.3643 1.7078 SCN5A rs41311117 3:38550362:A:G 3 38550362 A G 3:38591853 0.979082 352 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cholesteatoma of middle ear 0.000682 4.033 1.1874 SCN5A rs757532106 3:38550500:G:A 3 38550500 G A 3:38591991 0.942417 180 pLoF both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Other disorders of amniotic fluid and membranes 0.000357 3.6791 1.0306 SCN5A rs41315493 3:38550521:C:A 3 38550521 C A 3:38592012 0.997431 385 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Heartburn 0.00321 2.7141 0.921 SCN5A rs41261344 3:38575385:C:T 3 38575385 C T 3:38616876 0.998872 0.00183457 2 672 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Phakomatoses, not elsewhere classified 2.18e-05 11.2793 2.6566 SCN5A rs199473146 3:38597920:C:T 3 38597920 C T 3:38639411 0.835587 336 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Demyelenating diseases of the central nervous system 0.000518 3.9966 1.1513 SCN5A rs36210423 3:38603887:G:T 3 38603887 G T 3:38645378 0.987108 0.0354584 480 12547 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brugada syndrome;Cardiac arrest;Cardiovascular phenotype;Congenital long QT syndrome;Dilated Cardiomyopathy, Dominant;Left ventricular noncompaction cardiomyopathy;Long QT syndrome;Paroxysmal familial ventricular fibrillation;Paroxysmal familial ventricular fibrillation 1;Progressive familial heart block;Romano-Ward syndrome;Sick sinus syndrome;not provided;not specified Rheumatic fever incl heart disease 6.66e-05 0.754 0.1891 Salphingitis and oophoritis 0.0003477 1.179 0.329 SCN5A rs1805124 3:38603929:T:C 3 38603929 T C 3:38645420 0.999724 58745 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Giant cell arteritis with polymyalgia rheumatica 0.000443 0.3673 0.1046 Other and/or unspecified nontoxic goitre 0.003549 -0.239 0.082 SCN5A rs199473078 3:38609929:C:G 3 38609929 C G 3:38651420 0.954408 316 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Nutritional anaemias 0.000293 1.1965 0.3304 SCN5A rs45620037 3:38613787:G:A 3 38613787 G A 3:38655278 0.994551 0.00485318 22 1761 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Brugada syndrome;Cardiovascular phenotype;Dilated cardiomyopathy 1E;Familial dilated cardiomyopathy;Long QT syndrome 3;Nodal rhythm;Sick sinus syndrome 1, autosomal recessive;not provided;not specified Cardiac arrhytmias, COPD co-morbidities 2.14e-08 -0.4828 0.0862 Open wound of thorax 0.001932 48.276 15.571 SCN5A rs199473068 3:38620886:G:C 3 38620886 G C 3:38662377 0.963596 1103 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital long QT syndrome;not provided;not specified Injury of muscle and tendon at lower leg level 0.0012 1.0947 0.338 Malignant neoplasm of vulva 0.0002563 265.164 72.53 SCN5A rs192113333 3:38620901:C:T 3 38620901 C T 3:38662392 0.99155 1426 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital long QT syndrome Other symptoms and signs involving the urinary system 0.00165 1.4387 0.4571 Otalgia 0.001186 71.387 22.019 SCN10A rs77804526 3:38698131:C:T 3 38698131 C T 3:38739622 0.997911 2234 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brugada syndrome;not specified Bursitis of shoulder 0.000418 2.4977 0.7078 Pregnancy with abortive outcome 0.000871 2.334 0.701 SCN10A rs11711062 3:38712241:A:T 3 38712241 A T 3:38753732 0.942742 456 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Presence of cardiac and vascular implants and grafts 0.000236 1.2424 0.3379 SCN10A rs200324539 3:38712412:A:T 3 38712412 A T 3:38753903 0.973021 184 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Vitamin deficiency 0.000131 8.2767 2.1642 SCN10A rs138832868 3:38713959:C:T 3 38713959 C T 3:38755450 0.991336 930 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type of accident 0.000261 4.9991 1.3691 SCN10A rs12632942 3:38723507:A:G 3 38723507 A G 3:38764998 0.995217 72664 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Speech and linguistic disorders 0.00034 0.1928 0.0538 Speech and linguistic disorders (more controls excluded) 0.001248 0.228 0.071 SCN10A rs6795970 3:38725184:A:G 3 38725184 A G 3:38766675 0.99523 0.55188 112452 90302 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiac arrhytmias, COPD co-morbidities 3.59e-05 0.0488 0.0118 0.0005596 -0.08 0.023 SCN10A rs73062575 3:38725269:G:T 3 38725269 G T 3:38766760 0.975816 4934 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brugada syndrome;not specified Soft tissue disorders 0.000124 0.1438 0.0375 Diseases of spleen 6.531e-05 36.413 9.12 SCN10A rs138413438 3:38726721:G:A 3 38726721 G A 3:38768212 0.988915 339 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Short bones of upper limb (other cancers excluded from controls) 0.00144 8.6006 2.6994 SCN10A rs57326399 3:38726809:T:C 3 38726809 T C 3:38768300 0.996049 72210 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Generalized epilepsy 0.000106 -0.169 0.0436 Benign neoplasm: Colon, unspecified (other cancers excluded from controls) 0.0002134 -0.147 0.04 SCN10A rs7630989 3:38752449:A:G 3 38752449 A G 3:38793940 0.998185 4651 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Phobic anxiety disorders 0.000962 0.5369 0.1626 Substance use, excluding alcohol 0.0003926 3.397 0.958 SCN10A rs758898721 3:38756712:ACTT:A 3 38756712 ACTT A 3:38798203 0.949879 122 inframe_indel dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified injuries of abdomen, lower back and pelvis 0.000728 25.1136 7.4329 SCN10A rs142276689 3:38756826:C:T 3 38756826 C T 3:38798317 0.995745 545 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coagulation defects, purpura and other haemorrhagic conditions 0.000289 1.6675 0.46 SCN10A rs74717885 3:38763578:T:C 3 38763578 T C 3:38805069 0.988594 2780 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brugada syndrome;not specified Lateral epicondylitis 0.000538 0.7175 0.2073 Pregnancy with abortive outcome 0.0009386 2.292 0.693 SCN10A rs199973777 3:38792131:C:T 3 38792131 C T 3:38833622 0.989076 0.00214759 4 785 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Brugada syndrome Postpartum haemorrhage 2.67e-05 1.4226 0.3388 Atypical facial pain 0.0005082 148.361 42.677 SCN10A rs202143516 3:38792158:A:C 3 38792158 A C 3:38833649 0.992326 1349 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments of knee 0.000162 0.4685 0.1242 Injury of eye and orbit 0.0001257 23.025 6.004 SCN10A rs141207048 3:38793970:C:A 3 38793970 C A 3:38835461 0.992018 0.00130108 0 478 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of the digestive system 1.81e-05 1.6837 0.3928 SCN11A rs143852849 3:38846863:C:A 3 38846863 C A 3:38888354 0.991897 1339 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified disorders of external ear 0.000278 2.6756 0.736 SCN11A rs72869687 3:38847244:G:A 3 38847244 G A 3:38888735 0.998338 3776 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII Agranulocytosis 0.000679 0.7667 0.2256 Other specified/unspecified disorders of synovium and tendon +Other specified/unspecified bursopathies 0.0007742 12.754 3.794 SCN11A rs141686175 3:38872215:A:G 3 38872215 A G 3:38913706 0.960767 540 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified iron deficiency 0.00109 1.1624 0.3559 SCN11A rs33985936 3:38894643:C:T 3 38894643 C T 3:38936134 0.997843 0.242564 22048 67067 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders resulting from impaired renal tubular function 2.06e-05 0.4242 0.0996 Disorders resulting from impaired renal tubular function 0.0001156 0.519 0.135 SCN11A rs199807325 3:38899907:C:T 3 38899907 C T 3:38941398 0.993041 117 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease, wide definition (more controls excluded) 0.000175 3.7855 1.0086 SCN11A rs13059805 3:38907980:C:T 3 38907980 C T 3:38949471 0.996541 21611 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Episodic pain syndrome, familial, 3;Neuropathy, hereditary sensory and autonomic, type VII Injury of other and unspecified intrathoracic organs 0.00529 0.3316 0.1189 Coxarthrosis, primary 0.0004434 0.358 0.102 SCN11A rs150835546 3:38950268:G:A 3 38950268 G A 3:38991759 0.985238 362 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatitis due to ingested food 0.00153 5.462 1.7232 WDR48 rs148407227 3:39066559:T:G 3 39066559 T G 3:39108050 0.99366 502 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypoparathyroidism 0.00325 3.3149 1.1262 GORASP1 rs140965034 3:39103525:G:A 3 39103525 G A 3:39145016 0.979854 681 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertrophy of breast 0.000127 1.808 0.4717 CSRNP1 rs147162469 3:39143393:G:A 3 39143393 G A 3:39184884 0.981043 0.00101255 8 364 missense_variant unknown not provided not_provided no assertion provided none not provided Vitamin deficiency 6.14e-05 6.0513 1.5101 Other gastritis (incl. Duodenitis) 0.0001248 29.073 7.578 XIRP1 rs151275736 3:39185683:G:A 3 39185683 G A 3:39227174 0.997502 2964 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Postprocedural disorders of nervous system 0.000308 1.0892 0.3019 Rheumatic fever incl heart disease 1.915e-05 61.509 14.39 XIRP1 rs61736153 3:39187281:G:A 3 39187281 G A 3:39228772 0.97095 0.00335068 4 1227 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Anus and anal canal (other cancers excluded from controls) 7.52e-05 3.7459 0.9462 Complications following infusion, transfusion and therapeutic injection 0.0003046 236.523 65.495 XIRP1 rs61736135 3:39187705:G:T 3 39187705 G T 3:39229196 0.981817 1428 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemangioma, any site 0.000114 1.7405 0.4512 CX3CR1 rs3732378 3:39265671:G:A 3 39265671 G A 3:39307162 0.999786 48837 missense_variant unknown no interpretation for the single variant not_provided no interpretation for the single variant none Calculus of kidney and ureter 0.000311 0.1172 0.0325 Benign neoplasm of ovary 0.000304 0.237 0.066 CX3CR1 rs3732379 3:39265765:C:T 3 39265765 C T 3:39307256 0.999946 70321 missense_variant unknown no interpretation for the single variant not_provided no interpretation for the single variant none Other benign neoplasm of uterus: Other parts/unspecified (other cancers excluded from controls) 0.000768 0.2206 0.0656 Other arrhytmias 0.0001837 0.082 0.022 CX3CR1 rs199811198 3:39266341:T:C 3 39266341 T C 3:39307832 0.995581 1181 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral hepatitis 0.000126 1.8922 0.4935 Mouth breathing 0.001122 7.673 2.355 CX3CR1 rs139019894 3:39266436:T:C 3 39266436 T C 3:39307927 0.975977 0.000721308 2 263 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitamin deficiency 4.04e-05 7.5285 1.8339 CX3CR1 rs41535248 3:39266471:C:A 3 39266471 C A 3:39307962 0.984491 0.00386785 6 1415 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emotional disorders and disorders of social functioning with onset specific to childhood 3.45e-05 2.3448 0.5661 SLC25A38 rs144149294 3:39390470:C:G 3 39390470 C G 3:39431961 0.99586 1242 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary sideroblastic anemia;Refractory anemia with ringed sideroblasts (clinical);not specified Crohn disease ( strict definition, all UC cases excluded) 0.000629 2.3228 0.6794 Other intervertebral disc disorders 0 3.283 0 SLC25A38 rs146940902 3:39391546:A:G 3 39391546 A G 3:39433037 0.972306 3066 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary sideroblastic anemia;Refractory anemia with ringed sideroblasts (clinical);not specified Conduction disorders 0.00105 0.4745 0.1448 Pneumonia due to other infectious organisms, not elsewhere classified 0.00487 21.989 7.81 MYRIP rs56248790 3:40044269:G:A 3 40044269 G A 3:40085760 0.913305 297 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital iodine-deficiency syndrome/hypothyroidism 0.000273 8.9568 2.4611 MYRIP rs144807590 3:40182317:C:T 3 40182317 C T 3:40223808 0.90031 0.00259671 10 944 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Trigger finger 6.63e-05 1.6902 0.4237 Disorders of thyroid, IBD co-morbidities 1.972e-07 6.595 1.268 ULK4 rs188590896 3:41681599:C:T 3 41681599 C T 3:41723090 0.993166 2120 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intellectual disability, moderate Polycystic ovarian syndrome 0.000113 1.9191 0.4972 Respiratory disorders in diseases classified elsewhere 0.0001181 528.859 137.363 ULK4 rs199884004 3:41715287:G:A 3 41715287 G A 3:41756779 0.991971 0.00449661 16 1636 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intellectual disability, moderate Cholangitis (primary sclerosing, PSC), with reimbursement 202 6.5e-05 4.4854 1.123 Care involving use of rehabilitation procedures 0.000828 4.393 1.314 ULK4 rs77615850 3:41789798:C:T 3 41789798 C T 3:41831290 0.993261 0.00567248 8 2076 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intellectual disability, moderate Polycystic ovarian syndrome 7.45e-05 2.0264 0.5116 0.0001065 2.299 0.593 ULK4 rs4973986 3:41800224:A:C 3 41800224 A C 3:41841716 0.997167 0.784557 226436 61801 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Vulva 8.18e-05 -0.4483 0.1138 Benign neoplasm: Vulva 0.000125 -0.259 0.067 ULK4 rs1052501 3:41883906:C:T 3 41883906 C T 3:41925398 0.999317 0.798202 234194 59056 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aortic aneurysm 7.08e-05 -0.1685 0.0424 Aortic aneurysm 2.001e-05 -0.107 0.025 ULK4 rs1716975 3:41918514:T:C 3 41918514 T C 3:41960006 0.998278 0.797987 234100 59071 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aortic aneurysm 6.38e-05 -0.1696 0.0424 Aortic aneurysm 1.708e-05 -0.108 0.025 ULK4 rs2272007 3:41954644:T:C 3 41954644 T C 3:41996136 0.995777 0.798102 234124 59089 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aortic aneurysm 6.87e-05 -0.169 0.0425 Aortic aneurysm 2.147e-05 -0.106 0.025 TRAK1 rs143591096 3:42223223:C:G 3 42223223 C G 3:42264715 0.94964 1578 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fissure and fistula of anal and rectal regions 0.000267 0.7057 0.1936 Nontoxic diffuse goitre 0.001024 80.374 24.475 VIPR1 rs71315548 3:42525889:C:A 3 42525889 C A 3:42567381 0.989012 395 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinal osteochondrosis 0.000924 10.417 3.1447 KLHL40 rs144461124 3:42685856:G:C 3 42685856 G C 3:42727348 0.882926 129 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Family history of certain disabilities and chronic diseases leading to disablement 0.000298 10.5294 2.9114 KLHL40 rs6805421 3:42686652:A:G 3 42686652 A G 3:42728144 0.988428 73625 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified tonssillitis 0.000295 -0.0818 0.0226 Abnormal findings on diagnostic imaging of other body structures 0.002225 0.102 0.033 KLHL40 rs138791086 3:42688262:G:A 3 42688262 G A 3:42729754 0.815775 102 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia in other diseases classified elsewhere 0.00037 13.1176 3.6838 KLHL40 rs123509 3:42691976:T:C 3 42691976 T C 3:42733468 0.985368 71597 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on diagnostic imaging of other body structures 0.000505 0.1849 0.0531 Other abnormal findings of blood chemistry 0.0008712 0.219 0.066 CYP8B1 rs112066175 3:42874613:C:T 3 42874613 C T 3:42916105 0.984406 4986 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic maculopathy (more controls excluded) 0.000806 0.5891 0.1758 0.0002535 4.248 1.161 POMGNT2 rs138980930 3:43080758:C:T 3 43080758 C T 3:43122250 0.875491 65 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unknown and unspecified causes of morbidity 0.00054 6.596 1.9064 ANO10 rs146629436 3:43372790:G:T 3 43372790 G T 3:43414282 0.930444 0.00750433 22 2735 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Open wound of abdomen, lower back and pelvis 2.74e-05 2.4683 0.5885 Toxic liver disease 0.001113 69.723 21.385 ANO10 rs17409162 3:43549835:G:A 3 43549835 G A 3:43591327 0.998213 17080 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive cerebellar ataxia;Spinocerebellar ataxia, autosomal recessive 10;not specified Abnormalities of forces of labour 0.000823 -0.3017 0.0902 Haemmorrhoids and perianal venous thrombosis 0.0004086 0.726 0.206 ANO10 rs3772165 3:43561311:C:T 3 43561311 C T 3:43602803 0.998011 84486 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mood disorders (more controls excluded) 0.000456 -0.0456 0.013 Malignant neoplasm of other connective and soft tissue 0.0002686 0.255 0.07 ANO10 rs56389778 3:43576788:T:C 3 43576788 T C 3:43618280 0.998211 17146 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive cerebellar ataxia;Spinocerebellar ataxia, autosomal recessive 10;not specified Abnormalities of forces of labour 0.000908 -0.301 0.0907 Acute posthaemorrhagic anaemia 0.004838 1.894 0.672 ABHD5 rs148743497 3:43702422:G:T 3 43702422 G T 3:43743914 0.968529 2799 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Complications associated with artificial fertilization 0.000916 2.4216 0.7305 Postzoster neuralgia 0.0007701 100.596 29.91 KIF15 rs34862960 3:44786567:C:T 3 44786567 C T 3:44828059 0.94882 608 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Liver 0.000103 8.0254 2.0661 Central retinal artery occlusion 0.0004708 138.943 39.734 KIF15 rs138611262 3:44838351:C:T 3 44838351 C T 3:44879843 0.965626 910 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of oesophagus in diseases classified elsewhere 0.00137 4.6898 1.4652 0 4.393 0 LARS2 rs138437422 3:45400348:G:A 3 45400348 G A 3:45441840 0.981275 284 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory disease of uterus 0.000394 2.8132 0.7938 LARS2 rs71645922 3:45476581:C:A 3 45476581 C A 3:45518073 0.983994 15530 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Congenital malformations of uterus and cervix 0.000247 1.0081 0.2751 Other and unspecified effects of external causes 0.0001673 0.934 0.248 LARS2 rs116826217 3:45496303:G:A 3 45496303 G A 3:45537795 0.995931 1821 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Ischemic heart diseases 0.00151 -0.2751 0.0867 Hypotension 0.000113 25.959 6.724 LIMD1 rs114236922 3:45596273:A:G 3 45596273 A G 3:45637765 0.985978 0.00924091 42 3353 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn's disease of small interstine 9.3e-06 1.4429 0.3255 Asthma and opportunit respiratory infection 0.0001452 24.794 6.526 SLC6A20 rs73060335 3:45758441:A:G 3 45758441 A G 3:45799933 0.966478 29230 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperglycinuria Diverticular disease of intestine 0.00151 0.0871 0.0275 Disorders of porphyrin and bilirubin metabolism 0.0001984 2.86 0.769 SLC6A20 rs17279437 3:45772602:G:A 3 45772602 G A 3:45814094 0.999026 0.0988138 3592 32711 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Eating disorders 4.34e-05 -0.2632 0.0644 Other symptoms and signs involving the urinary system 0.0003044 0.758 0.21 SLC6A20 rs2271615 3:45796394:G:C 3 45796394 G C 3:45837886 0.968448 27720 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperglycinuria Autoimmune diseases related-to ILD 0.000191 -0.086 0.0231 Salphingitis and oophoritis 0.0003049 0.457 0.127 FYCO1 rs185127002 3:45923696:G:T 3 45923696 G T 3:45965188 0.9922 1871 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital cataract Haemorrhage, not elsewhere classified 0.000772 2.2062 0.6561 Iridocyclitis in diseases classified elsewhere 0.001086 80.096 24.515 FYCO1 rs41289612 3:45923698:G:A 3 45923698 G A 3:45965190 0.936678 796 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cataract, autosomal recessive congenital 2;Congenital cataract Panic disorder 0.00034 1.4125 0.3942 Other facial nerve disorders 0.0002032 230.466 62.037 FYCO1 rs41289620 3:45962243:C:T 3 45962243 C T 3:46003735 0.99512 4067 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cataract, autosomal recessive congenital 2;Congenital cataract;not specified Benign neoplasm: Skin of eyelid, including canthus 0.000322 0.6087 0.1693 Oedema, not elsewhere classified 0.0004205 2.738 0.776 FYCO1 rs200010750 3:45965111:C:G 3 45965111 C G 3:46006603 0.99752 2803 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation of lens 0.000394 2.8551 0.8056 Migraine with aura 9.583e-05 3.429 0.879 FYCO1 rs13079478 3:45966331:G:T 3 45966331 G T 3:46007823 0.999846 44445 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of femur 0.000234 0.138 0.0375 Effects of foreign body entering through natural orifice 0.0003043 0.234 0.065 FYCO1 rs13059238 3:45966333:T:C 3 45966333 T C 3:46007825 0.999422 44430 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of femur 0.000252 0.1373 0.0375 Effects of foreign body entering through natural orifice 0.000419 0.229 0.065 FYCO1 rs34801630 3:45966354:C:T 3 45966354 C T 3:46007846 0.995188 4067 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cataract, autosomal recessive congenital 2;Congenital cataract;not specified Benign neoplasm: Skin of eyelid, including canthus 0.000547 0.582 0.1684 Oedema, not elsewhere classified 0.0004205 2.738 0.776 FYCO1 rs3796375 3:45967298:G:A 3 45967298 G A 3:46008790 0.998292 0.456994 77250 90644 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 3.47e-05 -0.2192 0.0529 Other shoulder lesions 0.0004066 0.15 0.043 FYCO1 rs149507450 3:45967491:G:A 3 45967491 G A 3:46008983 0.99513 4067 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cataract, autosomal recessive congenital 2;Congenital cataract;not specified Benign neoplasm: Skin of eyelid, including canthus 0.000556 0.581 0.1683 Oedema, not elsewhere classified 0.0004204 2.738 0.776 FYCO1 rs141828619 3:45967797:G:A 3 45967797 G A 3:46009289 0.883848 162 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Radial styloid tenosynovitis [de Quervain] 0.000822 6.4989 1.9426 FYCO1 rs143704916 3:45967860:G:A 3 45967860 G A 3:46009352 0.95229 565 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other localized connective tissue disorders 0.000522 7.6229 2.1974 FYCO1 rs33910087 3:45967995:G:A 3 45967995 G A 3:46009487 0.998976 44410 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of femur 0.000235 0.138 0.0375 Effects of foreign body entering through natural orifice 0.0003733 0.231 0.065 FYCO1 rs139604029 3:45968213:A:G 3 45968213 A G 3:46009705 0.992199 767 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Crohn disease (strict definition, require KELA) 0.000251 2.7266 0.7447 FYCO1 rs3733100 3:45968372:C:G 3 45968372 C G 3:46009864 0.997096 88015 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified disorders of bone/cartilage 0.000386 0.2824 0.0796 0.0007233 0.08 0.024 FYCO1 rs4683158 3:45968585:C:T 3 45968585 C T 3:46010077 0.996952 58097 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of colon (other cancers excluded from controls) 0.000202 -0.1776 0.0478 0.0006877 -0.251 0.074 CCR2 rs1799864 3:46357717:G:A 3 46357717 G A 3:46399208 0.99859 26466 missense_variant unknown protective protective no assertion criteria provided no_Criteria Human immunodeficiency virus type 1, susceptibility to Other/unspecified dorsalgia 0.00125 0.1177 0.0364 Unspecified dementia 0.001599 0.591 0.187 CCR5 rs1800940 3:46373082:G:T 3 46373082 G T 3:46414573 0.823371 90 missense_variant unknown protective protective no assertion criteria provided no_Criteria Benign neoplasm: Descending colon 0.000631 11.0388 3.2296 CCR5 rs775750898 3:46373452:TACAGTCAGTATCAATTCTGGAAGAATTTCCAG:T 3 46373452 TACAGTCAGTATCAATTCTGGAAGAATTTCCAG T 3:46414943 0.99334 0.129027 6260 41143 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter IBD patients in KELA-register 8.29e-06 0.1788 0.0401 KELA_REIMBURSEMENT_202 0.0005189 -0.165 0.048 CCR5 rs1800452 3:46373570:G:A 3 46373570 G A 3:46415061 0.982275 130 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Disorders of porphyrin and bilirubin metabolism 0.000651 26.5562 7.7889 LTF rs61739313 3:46446446:C:T 3 46446446 C T 3:46487937 0.91499 259 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of binocular movement 0.000717 11.0574 3.2684 TDGF1 rs148619685 3:46579840:G:C 3 46579840 G C 3:46621330 0.995776 764 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Gonarthrosis [arthrosis of knee](FG) 0.000478 0.4877 0.1396 Other diseases of intestine 0.001338 60.998 19.016 TMIE rs188085072 3:46705902:C:T 3 46705902 C T 3:46747392 0.995594 1011 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not provided Hepatomegaly and splenomegaly, not elsewhere classified 0.00118 5.932 1.8286 Pain in throat and chest 0 4.084 0 PTH1R rs41290646 3:46895855:G:A 3 46895855 G A 3:46937345 0.993472 665 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chondrodysplasia;Metaphyseal chondrodysplasia;not provided Burns and corrosions 0.000377 1.7219 0.4843 Hidradenitis suppurativa 0.0004584 166.523 47.524 PTH1R rs77048718 3:46903510:G:A 3 46903510 G A 3:46945000 0.977631 6583 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chondrodysplasia;Metaphyseal chondrodysplasia Type 2 diabetes with other specified/multiple/unspecified complications 0.000749 -0.1636 0.0485 0.0009844 9.044 2.745 NBEAL2 rs17079425 3:46995075:G:A 3 46995075 G A 3:47036565 0.999015 7349 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gray platelet syndrome;not specified Melignant neoplasm of mesothelium and soft tissue (other cancers excluded from controls) 0.000191 0.9828 0.2635 Postmenopausal osteoporosis with pathological fracture 0.0001708 4.736 1.26 NBEAL2 rs11720139 3:46995266:C:G 3 46995266 C G 3:47036756 0.99761 85737 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on antenatal screening of mother 0.000135 -0.2218 0.0581 Salphingitis and oophoritis 0.0005352 -0.099 0.029 NBEAL2 rs2305637 3:47004356:C:T 3 47004356 C T 3:47045846 0.997658 65672 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nutritional anaemias 0.000516 -0.0788 0.0227 Other diseases of appendix 2.994e-05 0.936 0.224 NBEAL2 rs181413143 3:47006010:G:A 3 47006010 G A 3:47047500 0.99712 0.00448028 10 1636 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Gray platelet syndrome Open wound of thorax 8.08e-05 4.3215 1.0962 5.691e-05 -1.372 0.341 NBEAL2 rs144664865 3:47008125:G:A 3 47008125 G A 3:47049615 0.858359 154 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital musculoskeletal deformities of head, face, spine and chest 0.000735 27.6592 8.1924 SETD2 rs150476239 3:47056899:T:C 3 47056899 T C 3:47098389 0.986034 565 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endocrine disorders, other/unspecified 0.000191 6.7965 1.8216 SETD2 rs4082155 3:47083895:G:A 3 47083895 G A 3:47125385 0.999446 87667 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of thorax 0.000612 -0.3853 0.1124 Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.0005725 -0.129 0.037 SETD2 rs148097513 3:47084114:A:G 3 47084114 A G 3:47125604 0.97991 651 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Luscan-lumish syndrome Other diseases of biliary tract 0.00103 2.3433 0.7138 Nonalcoholic fatty liver disease 0.001211 67.457 20.844 SETD2 rs201177499 3:47120996:T:C 3 47120996 T C 3:47162486 0.971862 457 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility 0.000693 1.0717 0.3159 Disorders of eyelid in diseases classified elsewhere 0.001863 48.863 15.705 SETD2 rs142723093 3:47121214:G:A 3 47121214 G A 3:47162704 0.885671 0.000451838 0 166 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Beningn neoplasm: Meninges, unspecified 7.84e-05 22.6948 5.7464 SETD2 rs76208147 3:47121396:C:T 3 47121396 C T 3:47162886 0.998048 7337 missense_variant dominant not provided not_provided no assertion provided none not specified Melignant neoplasm of mesothelium and soft tissue (other cancers excluded from controls) 0.000184 0.9874 0.264 Postmenopausal osteoporosis with pathological fracture 0.0001707 4.736 1.26 SETD2 rs528110877 3:47123339:G:A 3 47123339 G A 3:47164829 0.99176 358 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Vagina (other cancers excluded from controls) 0.00141 8.6394 2.7068 PTPN23 rs138320436 3:47405983:C:A 3 47405983 C A 3:47447473 0.996873 0.00448028 8 1638 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of thorax 7.95e-05 4.3286 1.097 5.691e-05 -1.372 0.341 PTPN23 rs147122610 3:47406724:G:A 3 47406724 G A 3:47448214 0.972749 0.0108115 58 3914 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes insipidus 4.92e-05 3.3718 0.8307 Other/unspecified rheumatoid arthritis 0.0009055 4.793 1.444 PTPN23 rs138329311 3:47411186:G:A 3 47411186 G A 3:47452676 0.96573 0.00343234 14 1247 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Benign neoplasm: Choroid 9.93e-05 3.0169 0.7751 Nonhereditary hypogammaglobulinemia 0.001016 84.331 25.663 CDC25A rs146179438 3:48187876:C:A 3 48187876 C A 3:48229366 0.996075 0.0871776 3076 28952 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter UC patients in KELA-register ( KELA 208 prior to 1994, or ICD K51) 2.54e-05 0.2293 0.0544 Atypical facial pain 0.0004191 0.962 0.273 CAMP rs55708841 3:48225345:A:G 3 48225345 A G 3:48266835 0.959709 712 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings in nipple discharge synovial fluid wound secretions 0.000389 8.2842 2.3353 ATRIP rs145979024 3:48460120:G:A 3 48460120 G A 3:48501519 0.994087 1578 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other necrotizing vasculopathies (FG) 0.000158 1.9493 0.5159 Communicating hydrocephalus 0.0004263 179.032 50.814 ATRIP rs76493396 3:48464880:G:A 3 48464880 G A 3:48506279 0.982097 3137 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility 0.000601 0.3999 0.1166 Open wound of abdomen, lower back and pelvis 0.001843 49.316 15.835 ATRIP rs142995259 3:48464990:A:T 3 48464990 A T 3:48506389 0.988582 376 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pustulosis palmaris et plantaris 0.0012 4.3683 1.3492 ATRIP rs55999987 3:48467452:A:G 3 48467452 A G 3:48508851 0.988998 379 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pustulosis palmaris et plantaris 0.00126 4.3196 1.3392 COL7A1 rs566181351 3:48565399:GCTGTCCTCACCTTC:G 3 48565399 GCTGTCCTCACCTTC G 3:48602832 0.995055 6278 pLoF both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory bowel disease 0.000527 -0.2953 0.0852 Postprocedural disorders of digestive system, not elsewhere classified 6.044e-05 12.296 3.066 COL7A1 rs142566193 3:48566303:G:A 3 48566303 G A 3:48603736 0.991033 280 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Other assisted single delivery 0.000284 14.9787 4.1272 COL7A1 rs199819125 3:48570298:C:T 3 48570298 C T 3:48607731 0.979678 345 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other obstetric trauma 0.000165 5.4196 1.4384 COL7A1 rs149267939 3:48576250:G:A 3 48576250 G A 3:48613683 0.996566 687 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Behavioural disorders (more controls excluded) 0.00158 4.087 1.2933 COL7A1 rs79378857 3:48583584:G:A 3 48583584 G A 3:48621017 0.989371 1234 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl not provided Other and unspecified injuries of head 0.000458 2.7269 0.7781 Other diseases of appendix 0.0001865 369.47 98.878 COL7A1 rs35761247 3:48585691:G:A 3 48585691 G A 3:48623124 0.988812 0.0800081 2328 27066 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dystrophic epidermolysis bullosa;Recessive dystrophic epidermolysis bullosa;not specified Medical observation and evaluation for suspected diseases and conditions 1.08e-05 -0.0883 0.0201 Ulcerative enterocolitis 0.0003784 1.426 0.401 COL7A1 rs149011081 3:48586192:C:T 3 48586192 C T 3:48623625 0.993753 977 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma mixed form (mode) 0.0013 2.2422 0.6973 Fracture of neck 0.001082 77.201 23.621 COL7A1 rs2228563 3:48586607:C:T 3 48586607 C T 3:48624040 0.999339 0.00136096 0 500 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion confined to eye and adnexa 9.95e-05 6.0901 1.5649 COL7A1 rs116005007 3:48590356:C:A 3 48590356 C A 3:48627789 0.960396 0.0023599 8 859 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dominant dystrophic epidermolysis bullosa with absence of skin;Epidermolysis bullosa pruriginosa;Generalized dominant dystrophic epidermolysis bullosa;Nail disorder, nonsyndromic congenital, 8;Pretibial epidermolysis bullosa;Recessive dystrophic epidermolysis bullosa;Transient bullous dermolysis of the newborn;not provided Type 1 diabetes with neurological complications 2.51e-05 3.4811 0.8261 Injury of nerves and spinal cord at neck level 0.0007201 112.3 33.207 COL7A1 rs2228561 3:48590581:G:A 3 48590581 G A 3:48628014 0.99107 36732 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspcified rosacea 0.0017 -0.2602 0.083 Other abnormal products of conception 0.0005754 0.238 0.069 COL7A1 rs35623035 3:48592819:G:A 3 48592819 G A 3:48630252 0.999357 502 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Burn and corrosion confined to eye and adnexa 0.000104 6.0385 1.5556 CELSR3 rs61729242 3:48639758:G:A 3 48639758 G A 3:48677191 0.950087 1253 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paraplegia, diplegia of upper limbs 0.000289 4.0228 1.1097 0.002354 3.137 1.032 SLC25A20 rs754871147 3:48858568:CCTT:C 3 48858568 CCTT C 3:48896001 0.973865 334 inframe_indel recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Asthma/COPD-related acute respiratory infections 0.000863 0.4942 0.1483 QARS rs142480574 3:49098008:T:C 3 49098008 T C 3:49135441 0.999964 277 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chalazion 2e-04 3.1695 0.8522 QARS rs144092780 3:49099610:C:T 3 49099610 C T 3:49137043 0.889239 203 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary and unspecified malignant neoplasm of lymph nodes 0.000808 4.5145 1.3476 QARS rs11539148 3:49101377:T:C 3 49101377 T C 3:49138810 0.998599 21895 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;not specified Other and unspcified rosacea 0.000441 -0.3779 0.1075 Other abnormal products of conception 0.0003917 0.436 0.123 QARS rs142517070 3:49101858:G:A 3 49101858 G A 3:49139291 0.998352 5844 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy Congenital musculoskeletal deformities of head, face, spine and chest 0.00105 1.7718 0.5409 Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.001038 10.405 3.172 QARS rs62621067 3:49104709:G:T 3 49104709 G T 3:49142142 0.99681 3201 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy;not specified Tubulo-interstitial nephritis, not spesified as acute or chronic 0.00196 0.8237 0.266 Focal brain injury 0.0001847 20.932 5.598 LAMB2 rs74951356 3:49121330:C:T 3 49121330 C T 3:49158763 0.997219 8015 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephrotic syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome;Pierson syndrome;not specified Acute appendicitis, no complications 0.000732 0.1707 0.0505 Other diseases of pericardium 0.003399 5.997 2.047 LAMB2 rs146522641 3:49123193:C:T 3 49123193 C T 3:49160626 0.994608 1543 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome Hypertensive diseases (excluding secondary) 0.000928 0.2848 0.086 CR(E)ST syndrome 0.0007821 105.342 31.361 LAMB2 rs112933248 3:49123238:T:C 3 49123238 T C 3:49160671 0.993187 590 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome Valvular heart disease including rheumatic fever 0.001 0.3973 0.1208 Acute appendicitis, with complications 0.001929 7.147 2.305 LAMB2 rs34759087 3:49124851:C:T 3 49124851 C T 3:49162284 0.997525 0.163296 10000 49993 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abdominal and pelvic pain 1.92e-05 -0.0479 0.0112 Maternal care for known or suspected fetal abnormality and damage 0.0001151 0.3 0.078 LAMB2 rs35713889 3:49125150:C:T 3 49125150 C T 3:49162583 0.995982 8635 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephrotic syndrome;Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome;Pierson syndrome;not provided;not specified Unspecified diabetes without complications 0.000477 0.5597 0.1602 Volume depletion 0.0004936 3.759 1.079 LAMB2 rs143405268 3:49126040:G:T 3 49126040 G T 3:49163473 0.991028 269 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pilonidal cyst 0.00115 2.9598 0.9106 LAMB2 rs61729152 3:49129027:C:T 3 49129027 C T 3:49166460 0.99507 0.0200687 172 7201 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephrotic syndrome, type 5, with or without ocular abnormalities;Pierson syndrome;not specified Fracture at wrist and hand level 7.91e-05 0.3072 0.0778 Problems related to life-management difficulty 0.0003407 4.138 1.155 LAMB2 rs142402808 3:49129938:C:T 3 49129938 C T 3:49167371 0.992891 0.00638834 12 2335 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Gonarthrosis [arthrosis of knee](FG) 4.67e-05 -0.325 0.0798 Retinal detachments and breaks 0.000242 10.385 2.829 LAMB2 rs144765752 3:49132631:G:C 3 49132631 G C 3:49170064 0.970645 905 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary coxarthrosis, bilateral 0.000798 0.9046 0.2698 USP4 rs41290700 3:49283991:T:C 3 49283991 T C 3:49321424 0.989352 3837 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm, without specification of site 0.000513 1.4698 0.4231 Hyperhidrosis 8.25e-05 31.971 8.121 GPX1 rs1050450 3:49357401:G:A 3 49357401 G A 3:49394834 0.999364 0.434756 69716 90008 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria IBD patients in KELA-register 7.06e-09 0.1581 0.0273 IBD patients in KELA-register 6.393e-09 0.143 0.025 AMT rs116192290 3:49419325:C:T 3 49419325 C T 3:49456758 0.994961 4142 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Non-ketotic hyperglycinemia Herpesviral keratitis and keratoconjunctivitis 0.00171 1.0274 0.3275 Pervasive developmental disorders excl. Autism + Asperger 0.0004247 153.944 43.681 DAG1 rs145403829 3:49510792:G:C 3 49510792 G C 3:49548225 0.995842 836 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;not specified Peptic ulcer 0.00104 6.446 1.9649 Other diseases of appendix 0.0002899 249.874 68.947 DAG1 rs116717961 3:49510793:A:G 3 49510793 A G 3:49548226 0.997975 2269 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;not provided;not specified Vitamin deficiency 0.00169 1.424 0.4536 Open wound of lower leg 0.0006891 12.157 3.582 DAG1 rs41290704 3:49531110:C:G 3 49531110 C G 3:49568543 0.984131 868 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Limb-girdle muscular dystrophy-dystroglycanopathy, type C9;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9;not specified Open wound of lower leg 0.000124 1.716 0.4472 Haemmorrhoids and perianal venous thrombosis 0.0002879 7.995 2.205 DAG1 rs148759919 3:49531533:C:T 3 49531533 C T 3:49568966 0.881782 122 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Allergic urticaria 0.000814 6.7464 2.015 BSN rs200890584 3:49642497:C:T 3 49642497 C T 3:49679930 0.984724 2066 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Other soft tissue disorders, not elsewhere classified 0.00026 -0.3235 0.0886 Abnormal involuntary movements 0.001351 8.924 2.784 BSN rs148125466 3:49642697:G:A 3 49642697 G A 3:49680130 0.984315 427 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinal instabilities 0.000544 5.4199 1.5672 Allergic purpura 0.00105 81.35 24.827 GMPPB rs34345884 3:49722998:G:C 3 49722998 G C 3:49760431 0.987972 0.011854 60 4295 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14;not specified Lesion of sciatic nerve 9.66e-05 1.2168 0.3121 Chronic iridocyclitis 0.001234 9.47 2.931 GMPPB rs142336618 3:49723648:C:G 3 49723648 C G 3:49761081 0.99606 559 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Muscular dystrophy;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14;not provided Polyuria 0.00122 1.2216 0.3777 Pain in throat and chest 0 4.084 0 UBA7 rs61760190 3:49807819:G:A 3 49807819 G A 3:49845252 0.995308 1564 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other assisted single delivery 0.000794 3.8536 1.1486 Blood alcohol or alcohol intoxication level 0.0009287 90.239 27.252 TRAIP rs144992965 3:49831949:C:A 3 49831949 C A 3:49869382 0.879552 262 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of vagina 0.0013 2.8994 0.9018 TRAIP rs186312616 3:49843886:C:T 3 49843886 C T 3:49881319 0.994625 1631 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertensive heart and/or renal disease 0.000463 0.6726 0.1921 Vertical strabismus 0.0009858 85.321 25.898 MST1R rs35986685 3:49898093:T:G 3 49898093 T G 3:49935526 0.952541 1012 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Need for immunization against other single viral diseases 0.000308 4.0841 1.1319 Hypertensive diseases (excluding secondary) 0 2.332 0 RBM6 rs34707170 3:50059680:A:G 3 50059680 A G 3:50097113 0.978641 1116 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of abdomen, lower back and pelvis 0.000406 5.9122 1.6718 Medical observation and evaluation for suspected diseases and conditions 0 3.169 0 GNAI2 rs112497464 3:50252537:C:T 3 50252537 C T 3:50289969 0.986716 0.000492667 2 179 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Phakomatoses, not elsewhere classified 7.05e-05 26.5094 6.6699 HYAL1 rs116482870 3:50302191:C:T 3 50302191 C T 3:50339622 0.991196 0.0624789 1510 21444 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of hyaluronoglucosaminidase;not provided Persons with potential health hazards related to socioeconomic and psychosocial circumstances 2.69e-05 -0.2029 0.0483 CR(E)ST syndrome 0.0008476 3.265 0.979 ZMYND10 rs142613783 3:50341826:G:A 3 50341826 G A 3:50379257 0.980562 2099 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Routine general health check-up of defined subpopulation 0.000283 4.0854 1.1253 Degeneration of nervous system due to alcohol 0.001281 68.361 21.229 ZMYND10 rs148328402 3:50341912:C:T 3 50341912 C T 3:50379343 0.98816 826 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Other diseases of arteries and capillaries 0.000776 1.7403 0.5177 All influenza (not pneumonia) 0.0001721 19.808 5.273 ZMYND10 rs200913791 3:50342473:A:G 3 50342473 A G 3:50379904 0.848428 187 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Kela-code for behavioural disturbances in mental retardation 0.000786 23.2244 6.9167 CACNA2D2 rs150284749 3:50364696:T:G 3 50364696 T G 3:50402127 0.923156 156 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinal enthesopathy 0.000514 11.7067 3.3706 CACNA2D2 rs147278705 3:50364728:G:A 3 50364728 G A 3:50402159 0.879022 207 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other anxiety disorders 0.00258 1.3891 0.4609 CACNA2D2 rs372100606 3:50384320:CTCACTCTCAGGG:C 3 50384320 CTCACTCTCAGGG C 3:50421751 0.976752 198 inframe_indel unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other osteochondropathies 0.00173 3.974 1.2681 CACNA2D2 rs41291734 3:50476182:C:T 3 50476182 C T 3:50513613 0.988641 11807 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Early infantile epileptic encephalopathy;not provided;not specified Sequelae of injuries of lower limb 0.000216 0.4395 0.1188 Cleft lip and cleft palate 8.686e-05 11.146 2.84 DOCK3 rs142515812 3:51361872:A:T 3 51361872 A T 3:51399303 0.994862 197 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spinal enthesopathy 0.00166 8.0249 2.5508 GRM2 rs141459351 3:51712765:C:T 3 51712765 C T 3:51746781 0.996685 1845 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of nervous system 0.000144 1.764 0.464 Retinal haemorrhage 0.001349 65.759 20.516 GRM2 rs201258235 3:51715847:C:T 3 51715847 C T 3:51749863 0.999281 516 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified disorders of muscle 0.000313 4.7761 1.325 ABHD14A-ACY1 rs34017492 3:51984133:C:G 3 51984133 C G 3:52018149 0.894366 235 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis 0.000566 1.5068 0.4371 ABHD14A-ACY1 rs141824939 3:51984145:C:G 3 51984145 C G 3:52018161 0.995135 1960 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine with aura 0.000566 0.6384 0.1852 Malignant neoplasm of rectum 0.000209 18.126 4.889 ACY1 rs121912698 3:51988821:C:T 3 51988821 C T 3:52022837 0.991499 0.00392773 8 1435 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Aminoacylase 1 deficiency;not provided Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 2.01e-05 1.4981 0.3514 Pyoderma 0.0005187 149.76 43.147 ACY1 rs121912701 3:51989026:G:A 3 51989026 G A 3:52023042 0.994117 2372 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Aminoacylase 1 deficiency;not provided;not specified Other disorders of nervous system 0.000322 1.4346 0.3989 Retinal haemorrhage 0.001966 47.759 15.429 ALAS1 rs35338461 3:52199279:G:A 3 52199279 G A 3:52233295 0.962964 511 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vertical strabismus 0.000102 6.0748 1.5632 TLR9 rs5743845 3:52221728:C:T 3 52221728 C T 3:52255744 0.977053 511 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vertical strabismus 0.000101 6.0651 1.5602 DNAH1 rs61729450 3:52326302:T:C 3 52326302 T C 3:52360318 0.975127 0.00135552 0 498 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vertical strabismus 9.33e-05 6.1999 1.5867 DNAH1 rs181418923 3:52332280:A:G 3 52332280 A G 3:52366296 0.995159 3191 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Aphakia 0.000106 2.4981 0.6444 Nystagmus and other irregular eye movements 0.001463 62.201 19.549 DNAH1 rs61729402 3:52332352:A:G 3 52332352 A G 3:52366368 0.975127 0.00135552 0 498 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vertical strabismus 9.33e-05 6.1999 1.5867 DNAH1 rs13060192 3:52344524:G:C 3 52344524 G C 3:52378540 0.994712 13851 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Abdominal and pelvic pain 0.000602 -0.0726 0.0212 Diffuse brain injury 0.0006118 2.593 0.757 DNAH1 rs199870577 3:52344645:G:A 3 52344645 G A 3:52378661 0.985151 2499 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glaucoma suspect 0.000195 0.5769 0.1549 Glucoma-related operations 0.0002333 19.926 5.415 DNAH1 rs200814267 3:52346662:A:C 3 52346662 A C 3:52380678 0.978542 0.00577319 10 2111 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Chalazion 4.48e-05 1.1253 0.2757 Congenital deformities of feet 0.001584 55.246 17.489 DNAH1 rs557979163 3:52346726:C:CGG 3 52346726 C CGG 3:52380742 0.820695 77 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Alcohol-induced chronic pancreatitis 0.000244 10.8506 2.9575 DNAH1 rs201988957 3:52346727:G:A 3 52346727 G A 3:52380743 0.987618 224 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other acute skin changes due to ultraviolet radiation 0.00055 7.3461 2.1261 DNAH1 rs61734653 3:52347849:A:G 3 52347849 A G 3:52381865 0.974845 0.00135824 0 499 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vertical strabismus 9.29e-05 6.2054 1.5877 DNAH1 rs187636110 3:52348985:G:A 3 52348985 G A 3:52383001 0.975309 4443 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Special screening examination for infectious and parasitic diseases 0.00154 0.308 0.0972 Perforation of tympanic membrane 0.0002628 7.334 2.01 DNAH1 rs61734644 3:52350578:A:G 3 52350578 A G 3:52384594 0.990172 0.00421081 6 1541 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;Premature ovarian insufficiency;SPERMATOGENIC FAILURE 18 Complications following abortion and ectopic and molar pregnancy 4.1e-05 5.7927 1.4122 Abnormal findings on diagnostic imaging of lung 0.0004973 11.789 3.385 DNAH1 rs61734643 3:52351976:A:G 3 52351976 A G 3:52385992 0.978159 575 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vertical strabismus 0.000197 5.3112 1.4264 DNAH1 rs201455697 3:52353277:G:A 3 52353277 G A 3:52387293 0.951207 137 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of head 0.000957 9.8491 2.9819 DNAH1 rs201610799 3:52358579:G:A 3 52358579 G A 3:52392595 0.851659 175 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Plantar fascial fibromatosis 0.000188 4.7172 1.2629 DNAH1 rs61734638 3:52360039:G:A 3 52360039 G A 3:52394055 0.989918 0.0104222 50 3779 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Other and unspecified mononeuropathies of upper limb 4.31e-05 1.8545 0.4534 Habitual aborter 0.002559 37.536 12.445 DNAH1 rs200859252 3:52366791:G:T 3 52366791 G T 3:52400807 0.984748 5139 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Degenerative macular diseases 0.000205 0.6268 0.1688 Hypertensive Renal Disease 3.882e-05 13.45 3.269 DNAH1 rs145673040 3:52370162:A:G 3 52370162 A G 3:52404178 0.998276 15185 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Functional dyspepsia 0.00114 0.1968 0.0605 0.001678 0.645 0.205 DNAH1 rs199912441 3:52372030:A:G 3 52372030 A G 3:52406046 0.997274 1581 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 0.00048 1.0828 0.3101 Schizotypal disorder 0.0006215 124.541 36.394 DNAH1 rs112505934 3:52372236:A:G 3 52372236 A G 3:52406252 0.956191 2360 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Other abnormal uterine and caginal bleeding 0.00184 -0.4293 0.1378 Benign neoplasm: Colon, unspecified 0.000484 6.179 1.771 DNAH1 rs144580984 3:52375397:C:G 3 52375397 C G 3:52409413 0.866813 132 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other external causes of accidental injury 0.00059 7.055 2.0531 DNAH1 rs56002041 3:52375405:A:G 3 52375405 A G 3:52409421 0.997511 0.0636929 1644 21756 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Sequelae of cerebrovascular disease 7.99e-05 -0.2051 0.052 Localized scleroderma [morphea] 0.0008897 3.224 0.97 DNAH1 rs201064587 3:52378778:G:A 3 52378778 G A 3:52412794 0.977823 3247 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Status epilepticus 0.0014 1.4133 0.4425 Degeneration of nervous system due to alcohol 1.619e-05 69.647 16.153 DNAH1 rs200839854 3:52381773:A:G 3 52381773 A G 3:52415789 0.953402 362 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Excessive vomiting in pregnancy 0.000275 4.9508 1.361 DNAH1 rs61749019 3:52383975:G:A 3 52383975 G A 3:52417991 0.815329 267 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pyothorax 0.000382 8.0519 2.2667 DNAH1 rs182141515 3:52386299:C:T 3 52386299 C T 3:52420315 0.98247 523 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Other and unspecified injuries of thorax 0.000445 8.1494 2.3207 Endocarditis 0.0003727 188.975 53.102 DNAH1 rs201807250 3:52391248:A:G 3 52391248 A G 3:52425264 0.918219 86 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments at ankle and foot level 0.00186 2.3335 0.7498 DNAH1 rs201278364 3:52395043:G:A 3 52395043 G A 3:52429059 0.997509 1016 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adult respiratory distress syndrome 0.00188 5.1808 1.6666 Superficial injuries involving multiple body regions 0.0007625 104.26 30.974 DNAH1 rs419752 3:52395649:C:T 3 52395649 C T 3:52429665 0.998073 12629 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Cardiomyopathy 0.00144 0.2628 0.0825 Diffuse brain injury 0.0002255 3.307 0.897 DNAH1 rs12163565 3:52396510:G:A 3 52396510 G A 3:52430526 0.98983 68867 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hirsutism 0.000117 0.4994 0.1297 Episcleritis 0.0002866 0.341 0.094 DNAH1 rs200962458 3:52396681:C:T 3 52396681 C T 3:52430697 0.995565 7040 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 37;SPERMATOGENIC FAILURE 18 Respiratory insufficiency 0.000486 0.7717 0.2212 Nephrotic syndrome 0.0001741 8.717 2.322 STAB1 rs150311081 3:52512856:G:A 3 52512856 G A 3:52546872 0.994731 0.00167126 0 614 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conductive hearing loss, unspecified 5.52e-05 2.8408 0.7045 STAB1 rs147953260 3:52520515:G:A 3 52520515 G A 3:52554531 0.984881 247 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endovascular or surgical operations to intracerebral aneurysms 0.00163 5.3395 1.6951 STAB1 rs138126209 3:52523677:G:A 3 52523677 G A 3:52557693 0.978059 1584 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Localized scleroderma [morphea] 0.00219 3.7048 1.2097 Tinnitus 0.0002305 16.72 4.54 ITIH1 rs678 3:52786965:A:T 3 52786965 A T 3:52820981 0.999625 0.374925 51520 86223 missense_variant unknown no interpretation for the single variant not_provided no interpretation for the single variant none Primary coxarthrosis, bilateral 1.86e-06 0.1304 0.0274 Coxarthrosis, 5.624e-06 0.083 0.018 ITIH1 rs1042779 3:52786995:A:G 3 52786995 A G 3:52821011 0.999616 0.376869 52234 86223 missense_variant unknown no interpretation for the single variant not_provided no interpretation for the single variant none Primary coxarthrosis, bilateral 7.33e-06 0.1224 0.0273 Coxarthrosis, 1.309e-05 0.079 0.018 ITIH3 rs74320783 3:52802517:G:A 3 52802517 G A 3:52836533 0.985044 4618 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Special screening examination for infectious and parasitic diseases 0.000361 0.3383 0.0948 Adhesive middle ear disease 7.902e-05 34.116 8.643 ITIH4 rs151083454 3:52814021:C:T 3 52814021 C T 3:52848037 0.990808 755 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conductive hearing loss, unspecified 0.000116 2.3439 0.6082 ITIH4 rs74971919 3:52823972:C:T 3 52823972 C T 3:52857988 0.995248 1562 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot foot 0.00141 4.3391 1.359 Other specified and unspecified strabismus 0.0003401 215.473 60.144 PRKCD rs35891605 3:53188751:C:T 3 53188751 C T 3:53222767 0.97492 1065 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified hearing loss 0.000516 1.836 0.5287 Open wound of lower leg 4.171e-05 38.376 9.365 TKT rs138887336 3:53231451:T:A 3 53231451 T A 3:53265467 0.945432 1215 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bullous pemphigoid 0.00035 4.7292 1.3228 Hernia of abodminal wall 1.16e-06 7.174 1.475 TKT rs17052920 3:53235071:T:C 3 53235071 T C 3:53269087 0.942643 1176 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Allergic purpura 0.0015 2.4581 0.7741 Benign lipomatous neoplasm of other sites/unspecified (other cancers excluded from controls) 0.0005004 154.233 44.313 CACNA1D rs144474773 3:53762064:G:A 3 53762064 G A 3:53796091 0.849897 65 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Presence of other functional implants 0.00143 3.0577 0.9587 CACNA1D rs72556360 3:53769994:C:T 3 53769994 C T 3:53804021 0.998433 8088 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Dislocation, sprain and strain of joints and ligaments at neck level 0.000392 0.427 0.1204 Meniere disease 0.000332 2.963 0.825 CACNA1D rs1250342280 3:53808664:CCTT:C 3 53808664 CCTT C 3:53842691 0.982003 508 inframe_indel both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of skull and facial bones 0.00119 1.3509 0.4168 Erythema nodosum 0.0002159 323.456 87.428 CACNA2D3 rs112362995 3:54891399:C:T 3 54891399 C T 3:54925426 0.978715 7912 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Venous thromboembolism 0.000138 0.2377 0.0624 1e-04 2.332 0.599 LRTM1 rs1254978988 3:54918482:GCT:G 3 54918482 GCT G 3:54952509 0.998252 3638 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Allergic purpura 0.00181 1.2561 0.4027 Undetermined asthma 0.0006122 5.434 1.586 CCDC66 rs144848139 3:56621593:A:AAGAG 3 56621593 A AAGAG 3:56655621 0.920664 334 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Respiratory disorders in diseases classified elsewhere 0.000185 17.2496 4.6131 DNAH12 rs4060726 3:57301848:C:T 3 57301848 C T 3:57335876 0.990794 78790 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arrhytmias 0.000195 -0.0631 0.0169 0.0001433 -0.063 0.017 DNAH12 rs4681982 3:57428344:G:A 3 57428344 G A 3:57414071 0.998241 0.503378 93060 91875 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of ovary 9.61e-05 -0.1155 0.0296 7.753e-05 -0.075 0.019 DNAH12 rs17793014 3:57428370:T:A 3 57428370 T A 3:57414097 0.99805 0.402822 59730 88262 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebrovascular diseases (FINNGEN) 1.19e-05 0.0785 0.0179 Conductive hearing loss, unspecified 0.0002929 0.158 0.044 DNAH12 rs4462937 3:57428707:A:G 3 57428707 A G 3:57414434 0.997943 75989 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatographic urticaria 0.0012 -0.2043 0.0631 0.0007277 -0.081 0.024 DNAH12 rs6773904 3:57433770:C:T 3 57433770 C T 3:57419497 0.999368 90420 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other viral diseases 0.000574 0.0931 0.027 Polyarthropathies 0.002358 -0.034 0.011 DNAH12 rs6806444 3:57489624:T:G 3 57489624 T G 3:57475351 0.998918 74949 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of other endocrine glands 0.000124 0.0803 0.0209 Disorders of other endocrine glands 0.000542 0.046 0.013 DNAH12 rs6445902 3:57508411:A:C 3 57508411 A C 3:57494138 0.99514 0.152256 8724 47213 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs concerning food and fluid intake 1.97e-05 0.2666 0.0625 Autonomic disorders 0.0003972 0.972 0.274 SLMAP rs138744399 3:57912420:G:T 3 57912420 G T 3:57898147 0.996644 303 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders starting during childhood or adolecense (more controls excluded) 0.000355 5.648 1.5816 SLMAP rs143689400 3:57917039:A:T 3 57917039 A T 3:57902766 0.921133 116 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 0.000571 1.321 0.3835 FLNB rs201544295 3:58104009:G:A 3 58104009 G A 3:58089736 0.990342 389 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Excessive vomiting in pregnancy 0.00056 3.4307 0.9943 Other congenital malformations of face and neck 0.0003867 192.285 54.18 FLNB rs138220431 3:58104034:C:T 3 58104034 C T 3:58089761 0.995259 2482 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Amyloidosis 0.000406 2.7837 0.7872 Cardiovascular diseases 0.0001146 -1.698 0.44 FLNB rs139124254 3:58112217:G:C 3 58112217 G C 3:58097944 0.983178 264 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Retinal detachment with retinal break 0.000183 3.2367 0.865 FLNB rs139875974 3:58118899:G:T 3 58118899 G T 3:58104626 0.916663 255 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Salphingitis and oophoritis 0.00249 1.7753 0.587 FLNB rs1131356 3:58123435:G:A 3 58123435 G A 3:58109162 0.999972 0.247812 22522 68521 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sensorineural hearing loss 2.24e-05 0.0673 0.0159 Other Chron's disease 0.0002185 0.301 0.081 FLNB rs111330368 3:58124392:G:C 3 58124392 G C 3:58110119 0.976005 2338 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anosmia 0.000348 2.2528 0.6299 Hyphaema and other vascular disorders of iris and ciliary body 0.001527 57.386 18.105 FLNB rs139269734 3:58125704:C:G 3 58125704 C G 3:58111431 0.986445 1010 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bicipital tendinitis 0.000643 2.3213 0.6801 FLNB rs12632456 3:58132828:G:A 3 58132828 G A 3:58118555 0.999222 0.252687 23418 69416 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sensorineural hearing loss 6.34e-05 0.0631 0.0158 Other Chron's disease 0.0003796 0.283 0.08 FLNB rs62621996 3:58148778:A:G 3 58148778 A G 3:58134505 0.962217 471 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyloidosis, other/unspecified 0.000114 10.4505 2.7085 FLNB rs116826041 3:58159621:T:C 3 58159621 T C 3:58145348 0.981135 752 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter FLNB-Related Spectrum Disorders;not specified Other specified/unspecified inflammatory spondylopathies 0.000225 3.1419 0.8517 Cerebral cysts 0.00112 76.229 23.393 FLNB rs202143851 3:58168496:G:A 3 58168496 G A 3:58154223 0.990461 363 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Excessive vomiting in pregnancy 0.000448 3.5912 1.023 Other congenital malformations of face and neck 0.0003867 192.285 54.18 FLNB rs146499414 3:58168601:G:A 3 58168601 G A 3:58154328 0.979989 1036 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anorexia (incl.atypical) 0.000462 2.0233 0.5778 DNASE1L3 rs74350392 3:58205547:C:G 3 58205547 C G 3:58191274 0.962945 1651 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other anxiety disorders 0.000113 -0.5669 0.1469 Von Willebrand disease 0.0002805 244.288 67.248 PXK rs140203295 3:58410115:A:T 3 58410115 A T 3:58395842 0.991527 752 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Protozoal diseases 0.000255 5.0046 1.3684 ACOX2 rs764415574 3:58534004:CTCTG:C 3 58534004 CTCTG C 3:58519731 0.987249 3133 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of gallbladder 0.00069 1.2888 0.3798 Other obstructed labour 0.0003152 16.281 4.519 C3orf67 rs116534917 3:58884595:C:T 3 58884595 C T 3:58870321 0.976565 3731 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Transverse colon (other cancers excluded from controls) 0.000421 0.9838 0.279 ILD-related respiratory insufficiency 0.0005346 3.568 1.03 ATXN7 rs1053338 3:63982224:A:G 3 63982224 A G 3:63967900 0.996635 25182 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Voice disturbances 0.00262 0.1506 0.05 Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.001034 -0.258 0.079 ATXN7 rs3774729 3:63996406:G:A 3 63996406 G A 3:63982082 0.995494 80137 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Other specified/unspecified disorders of synovium and tendon +Other specified/unspecified bursopathies 0.00016 0.2413 0.0639 Chronic Coagulation defects 0.0002294 0.408 0.111 ATXN7 rs180696871 3:63999481:C:A 3 63999481 C A 3:63985157 0.961643 0.00445578 2 1635 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autism spe (more controls excluded) 9.66e-05 4.4134 1.1319 PRICKLE2 rs202170644 3:64147176:C:G 3 64147176 C G 3:64132852 0.92794 472 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Rolandic epilepsy;not provided Benign neoplasm of other and unspecified sites 0.000723 5.071 1.4999 Benign neoplasm: Skin of scalp and neck 0.0003697 209.606 58.865 PRICKLE2 rs139747674 3:64157305:C:T 3 64157305 C T 3:64142981 0.992126 1997 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epilepsy, progressive myoclonic 5;not specified Melanocytic naevi of other and unspecified parts of face 0.000726 1.3929 0.4122 Other bacterial diseases 0.0007486 3.874 1.149 ADAMTS9 rs80311637 3:64550972:C:T 3 64550972 C T 3:64536648 0.944523 0.000427341 0 157 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Venous complications and haemorrhoids in pregnancy 4.92e-06 25.2193 5.5205 SLC25A26 rs146159281 3:66236632:G:A 3 66236632 G A 3:66287056 0.991695 90021 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perforation of tympanic membrane 0.000394 -0.1513 0.0427 Other congenital malformations of face and neck 0.002185 0.213 0.07 SLC25A26 rs13874 3:66369532:C:T 3 66369532 C T 3:66419956 0.996629 91030 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 0.000503 -0.1552 0.0446 Other embolism and thrombosis 0.0004631 0.106 0.03 LRIG1 rs2279290 3:66380387:T:G 3 66380387 T G 3:66430811 0.997715 64311 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impotence 0.000217 0.3036 0.0821 Ectopic pregnancy 0.001491 0.181 0.057 LRIG1 rs146580942 3:66380631:C:T 3 66380631 C T 3:66431055 0.95852 0.000631485 0 232 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transplanted organ and tissue status 3.48e-05 4.8779 1.1785 LRIG1 rs116809906 3:66383311:G:A 3 66383311 G A 3:66433735 0.990379 709 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other problems related to primary support group, including family circumstances 0.000164 1.8208 0.4831 Primary angle-closure glaucoma 0.0007396 107.883 31.971 LRIG1 rs2306272 3:66384219:T:C 3 66384219 T C 3:66434643 0.996176 69017 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tuberculosis 0.000916 -0.1778 0.0536 All-cause Heart Failure 3.873e-05 0.075 0.018 LRIG1 rs1403625 3:66500332:G:C 3 66500332 G C 3:66550756 0.989478 17453 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified nerve root and plexus disorders, also in other diseases 0.000349 -0.2813 0.0787 Other and unspecified nerve root and plexus disorders, also in other diseases 0.0007846 -0.138 0.041 LRIG1 rs1403626 3:66500338:G:C 3 66500338 G C 3:66550762 0.989478 17453 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified nerve root and plexus disorders, also in other diseases 0.000349 -0.2813 0.0787 Other and unspecified nerve root and plexus disorders, also in other diseases 0.0007846 -0.138 0.041 SUCLG2 rs902320 3:67360679:C:T 3 67360679 C T 3:67411103 0.996878 0.344804 43770 82907 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 5.3e-05 -0.4212 0.1042 Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.00138 -0.346 0.108 SUCLG2 rs902321 3:67360742:A:G 3 67360742 A G 3:67411166 0.997407 91157 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postmenopausal bleeding 0.00057 -0.0802 0.0233 Isolated proteinuria with specified morphological lesion 0.0005287 0.247 0.071 SUCLG2 rs74675534 3:67529111:T:C 3 67529111 T C 3:67579535 0.971722 1032 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Contracture of joint 0.000634 5.1769 1.5153 Other noninflammatory disorders of vulva and perineum 7.538e-06 24.258 5.417 EOGT rs35545453 3:68982812:T:C 3 68982812 T C 3:69031963 0.998535 1945 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adams-Oliver syndrome 4 ILD differential diagnosis 0.0014 -0.1557 0.0487 0.00108 1.949 0.596 LMOD3 rs145387235 3:69118700:G:T 3 69118700 G T 3:69167851 0.994687 0.0160457 110 5785 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nemaline myopathy 10 Follow-up care involving plastic surgery 9.11e-05 0.9862 0.252 Other noninflammatory disorders of uterus, except cervix 0.001382 1.87 0.585 LMOD3 rs199592188 3:69119165:T:C 3 69119165 T C 3:69168316 0.985014 771 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otalgia 0.000471 2.737 0.7828 LMOD3 rs111797345 3:69119477:C:T 3 69119477 C T 3:69168628 0.997733 18567 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nemaline myopathy 10 Dissection of aorta 0.000351 0.63 0.1763 Suppurative otitis media, unspecified 0.000603 2.239 0.653 LMOD3 rs111848977 3:69119929:T:G 3 69119929 T G 3:69169080 0.994839 711 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nemaline myopathy 10 Other congenital malformations of ear 0.000115 7.8729 2.0412 Unspecified fall 0.0002086 317.585 85.641 LMOD3 rs35740823 3:69122139:C:T 3 69122139 C T 3:69171290 0.985304 9659 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nemaline myopathy 10 Internar derangement of knee 0.000191 0.1482 0.0397 Traumatic subdural haemorrhage 0.0007411 2.403 0.712 LMOD3 rs555650704 3:69122345:GAGA:G 3 69122345 GAGA G 3:69171496 0.983021 5407 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the circulatory and respiratory systems 0.000219 -0.1227 0.0332 0.0004755 2.039 0.584 FRMD4B rs192984298 3:69181073:C:A 3 69181073 C A 3:69230224 0.995856 1834 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative colitis ( strict definition, require KELA) 0.000711 0.7854 0.232 Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 2.284e-06 150.914 31.929 FOXP1 rs140161845 3:70970749:T:C 3 70970749 T C 3:71019900 0.984741 500 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of other internal prosthetic devices, implants and grafts 0.000229 6.8377 1.8557 FOXP1 rs76145927 3:70972152:T:C 3 70972152 T C 3:71021303 0.991685 4258 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Malignant neoplasm of pancreas (other cancers excluded from controls) 0.000931 0.9965 0.301 Foreign body in respiratory tract 0.000773 12.152 3.614 FOXP1 rs147756430 3:70977843:C:T 3 70977843 C T 3:71026994 0.995599 1797 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholelithiasis, broad definition with cholecystitis 0.000651 0.3235 0.0949 Other disorders of thyroid 0.0007501 102.464 30.399 FOXP1 rs146606219 3:71046963:G:C 3 71046963 G C 3:71096114 0.971405 279 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Enterocolitis due to Clostridium difficile 0.000672 3.1947 0.9395 PDZRN3 rs140300143 3:73384579:C:T 3 73384579 C T 3:73433730 0.962377 4852 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enteropathic arthropathies 0.000216 1.7757 0.48 Cholesteatoma of middle ear 0.0001338 9.337 2.445 CNTN3 rs141921900 3:74285307:G:A 3 74285307 G A 3:74334458 0.954467 4613 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Depression 0.000133 0.2101 0.055 Type 2 diabetes with coma 0.000134 5.675 1.486 CNTN3 rs139861462 3:74301523:G:A 3 74301523 G A 3:74350674 0.951341 479 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.000856 0.6312 0.1893 ROBO2 rs199705591 3:77550915:C:T 3 77550915 C T 3:77600066 0.882781 209 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Vesicoureteral reflux Infections of breast associated with childbirth 0.000478 7.6309 2.1846 Status epilepticus 0.0005211 144.428 41.626 ROBO2 rs185792666 3:77565064:T:C 3 77565064 T C 3:77614215 0.895395 212 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments of head 0.003 6.5875 2.2199 ROBO2 rs188582283 3:77580049:C:T 3 77580049 C T 3:77629200 0.955366 0.00114593 0 421 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Atopic conjunctivitis 5.02e-05 6.2386 1.5387 ROBO1 rs201121251 3:78631227:G:A 3 78631227 G A 3:78680377 0.988687 1677 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Habit and impulse disorders 0.000723 2.825 0.8356 Complications of internal orthopaedic prosthetic devices, implants and grafts 3.896e-05 10.299 2.504 GBE1 rs193074572 3:81499145:C:T 3 81499145 C T 3:81548296 0.972923 1389 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease IV, classic hepatic;Glycogen storage disease, type IV;not provided;not specified !!!Vapaa-ajan tapaturmat 0.000119 6.0594 1.5745 Maltreatment syndromes 0.0007822 99.354 29.578 GBE1 rs2228389 3:81578024:T:C 3 81578024 T C 3:81627175 0.999028 10447 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease IV, classic hepatic;Glycogen storage disease, type IV;Glycogen storage disease, type IV;Polyglucosan body disease, adult;not provided;not specified Conjunctivitis (acute, non atopic) 0.000114 0.2904 0.0753 Leiomyoma of uterus 0.0004528 0.577 0.165 GBE1 rs201758548 3:81578051:C:T 3 81578051 C T 3:81627202 0.990294 342 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorder of thyroid, unspecified 0.000534 12.1926 3.5208 GBE1 rs28763902 3:81642934:C:T 3 81642934 C T 3:81692085 0.999769 0.0216202 198 7745 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease, type IV;Polyglucosan body disease, adult;not specified Corneal ulcer 7.29e-05 0.4366 0.1101 COPD related to chronic (opportunist) infections 0.0007606 12.226 3.632 GBE1 rs192044702 3:81648854:A:G 3 81648854 A G 3:81698005 0.939993 290 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter GBE1-Related Disorders;Glycogen storage disease IV, classic hepatic;Glycogen storage disease, type IV;Glycogen storage disease, type IV;Glycogen storage disease, type IV;Polyglucosan body disease, adult;not provided Other disorders of eyelid 0.000763 1.2704 0.3774 0.006194 3.515 1.284 GBE1 rs2229519 3:81648979:T:C 3 81648979 T C 3:81698130 0.996599 88836 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the abdomen, lower back, lumbar spine and pelvis 0.000133 -0.0826 0.0216 Other gastritis (incl. Duodenitis) 0.0001983 0.092 0.025 GBE1 rs28763904 3:81705581:A:G 3 81705581 A G 3:81754732 0.993876 0.00456738 14 1664 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease IV, classic hepatic;Glycogen storage disease, type IV;Glycogen storage disease, type IV;Polyglucosan body disease, adult;not provided;not specified Dermatitis herpetiformis 2.08e-06 4.7285 0.9963 Rheumatic valve diseases 0.002626 36.633 12.177 POU1F1 rs143373007 3:87264357:T:C 3 87264357 T C 3:87313507 0.994373 1895 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Combined Pituitary Hormone Deficiency, Recessive;Pituitary hormone deficiency, combined 1;not provided;not specified Nerve, nerve root and plexus disorders 0.00148 0.2591 0.0815 0.00106 79.366 24.241 EPHA3 rs34437982 3:89431343:C:G 3 89431343 C G 3:89480493 0.988179 3540 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of respiratory system and intrathoracic organs 0.0011 0.5888 0.1804 Sacrococcygeal disorders, not elsewhere classified 0.0001718 22.535 5.998 PROS1 rs121918472 3:93879306:A:G 3 93879306 A G 3:93598150 0.9283 319 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy 0.000378 2.1072 0.5928 PROS1 rs199469491 3:93892993:A:C 3 93892993 A C 3:93611837 0.990485 4959 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Protein S deficiency Multiple delivery 0.000973 0.8468 0.2568 Abnormal findings on diagnostic imaging of breast 0.001375 63.393 19.811 PROS1 rs189883848 3:93893067:C:T 3 93893067 C T 3:93611911 0.997184 0.0144643 110 5204 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Protein S deficiency Venous thromboembolism 3.32e-07 0.3888 0.0762 0.0002043 0.596 0.161 PROS1 rs41267007 3:93900833:C:T 3 93900833 C T 3:93619677 0.996732 1077 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Protein S deficiency;Thrombophilia due to protein S deficiency, autosomal recessive Acute and transient psychotic disorders 0.000577 1.2784 0.3714 Injury of urinary and pelvic organs 0.0006252 124.637 36.439 PROS1 rs73846070 3:93927257:G:A 3 93927257 G A 3:93646101 0.99882 343 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases caused by chlamydiae 0.000517 12.3471 3.5565 ARL13B rs33944211 3:94049424:C:G 3 94049424 C G 3:93768268 0.999304 31749 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Joubert syndrome 8;not specified ILD-related co-morbidities 0.000745 -0.0421 0.0125 0.0003394 -0.157 0.044 ARL13B rs139063474 3:94049426:A:G 3 94049426 A G 3:93768270 0.955299 1741 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Joubert syndrome;Joubert syndrome 8 Benign neoplasm of thyroid gland 0.000255 2.3691 0.6478 Other joint disorders 0.0006964 1.845 0.544 ARL13B rs11554412 3:94050868:C:G 3 94050868 C G 3:93769712 0.996947 2405 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome 8;not provided;not specified Osteomyelitis 0.000608 1.2424 0.3625 Other joint disorders 0.0004201 1.656 0.47 CPOX rs11921054 3:98585559:G:A 3 98585559 G A 3:98304403 0.989686 3893 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary coproporphyria Other, unspecified and serous retinal detachments 0.000528 1.5723 0.4536 Other abnormal findings in urine 5.758e-05 39.868 9.911 CPOX rs2228056 3:98588786:C:T 3 98588786 C T 3:98307630 0.985164 20162 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary coproporphyria Disorders of lacrimal system and orbit in diseases classified elsewhere 0.00136 0.6026 0.1881 Other disorders of urethra and urinary system 0.001162 0.265 0.082 CPOX rs1131857 3:98588852:T:G 3 98588852 T G 3:98307696 0.998656 63168 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Iron deficiency anaemia 0.000923 -0.0869 0.0262 Other diseases of appendix 9.967e-05 0.918 0.236 TBC1D23 rs62636640 3:100279687:G:C 3 100279687 G C 3:99998531 0.989551 874 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified and unspecified strabismus 0.000634 7.1857 2.1031 Malignant neoplasm of stomach 0.0008517 91.883 27.547 TFG rs753375115 3:100748272:C:T 3 100748272 C T 3:100467116 0.912856 344 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Monoarthritis, not elsewhere classified 0.00019 5.691 1.525 TFG rs145835282 3:100748316:A:G 3 100748316 A G 3:100467160 0.999099 376 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary and unspecified malignant neoplasm of lymph nodes 0.00018 3.7041 0.9888 TFG rs111356679 3:100748388:C:G 3 100748388 C G 3:100467232 0.990066 307 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypersensitivity pneumonitis due to organic dust 0.00124 9.0783 2.8114 IMPG2 rs116450347 3:101232976:G:A 3 101232976 G A 3:100951820 0.940872 822 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Melanocytic naevi of other and unspecified parts of face (other cancers excluded from controls) 0.00123 2.2866 0.7075 IMPG2 rs571391 3:101244310:G:A 3 101244310 G A 3:100963154 0.996549 70038 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hemiplegia 0.000531 -0.2221 0.0641 0.0004193 -0.141 0.04 IMPG2 rs142710242 3:101244749:T:C 3 101244749 T C 3:100963593 0.999962 0.000710421 2 259 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of thyroid 1.07e-06 23.634 4.8454 IMPG2 rs139255481 3:101253766:C:T 3 101253766 C T 3:100972610 0.888495 242 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of adrenal gland 0.000507 7.4023 2.1289 TRMT10C rs3762735 3:101564948:C:G 3 101564948 C G 3:101283792 0.998804 0.138105 7214 43524 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Respiratory insufficiency 7.16e-05 0.3412 0.0859 Atopic conjunctivitis 0.0001816 0.709 0.189 CEP97 rs111912421 3:101726726:G:A 3 101726726 G A 3:101445570 0.92872 0.00184546 2 676 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of ovary 9.86e-05 1.435 0.3685 Mental and behavioural disorders due to alcohol, excluding acute intoxication 0.000349 8.74 2.444 ALCAM rs139344282 3:105545311:G:T 3 105545311 G T 3:105264155 0.975248 3237 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Systemic atrophies primarly affecting the central nervous system 0.000631 1.4207 0.4157 Anorexia (incl.atypical) 0.0005041 13.83 3.976 CBLB rs41302192 3:105702188:C:G 3 105702188 C G 3:105421032 0.977588 3629 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Psoriatic arthropathies, ICD10 0.000817 0.7612 0.2274 Inflammatory disease of cervix uteri 0.0001447 8.47 2.229 BBX rs138961599 3:107773045:G:A 3 107773045 G A 3:107491892 0.945726 1928 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kyphosis 0.000629 4.1375 1.2102 Melanocytic naevi of eyelid, including canthus (other cancers excluded from controls) 0.000594 130.868 38.106 IFT57 rs35713185 3:108162535:T:C 3 108162535 T C 3:107881382 0.976652 0.0081222 36 2948 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postpartum care and examination 3.83e-05 0.7667 0.1862 Myositis 6.106e-05 38.06 9.494 IFT57 rs112224477 3:108222320:C:A 3 108222320 C A 3:107941167 0.994411 2594 start_lost recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other extrapyramidal and movement disorders+ in other diseases 0.000381 0.7823 0.2202 1.504e-05 1.636 0.378 MYH15 rs56118396 3:108394107:C:T 3 108394107 C T 3:108112954 0.991237 7636 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of orbit 0.000373 0.8437 0.2371 Other acute viral hepatitis 0.0004113 16.441 4.654 MYH15 rs76478083 3:108398765:G:A 3 108398765 G A 3:108117612 0.969819 890 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy with abortive outcome 0.000882 -0.4599 0.1383 Other diseases of appendix 0.0005351 145.182 41.929 MYH15 rs61744539 3:108428833:G:A 3 108428833 G A 3:108147680 0.982383 466 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the musculoskeletal system and connective tissue 0.000586 -0.372 0.1082 MORC1 rs17225637 3:109061989:T:A 3 109061989 T A 3:108780836 0.995375 1648 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.000259 0.3795 0.1039 Malignant neoplasm of stomach (other cancers excluded from controls) 0.002051 44.776 14.525 NECTIN3 rs79006549 3:111122207:A:C 3 111122207 A C 3:110841054 0.977374 311 missense_variant unknown Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Thyroiditis, unspecified 0.00072 10.9072 3.2253 CD96 rs2276872 3:111567528:G:C 3 111567528 G C 3:111286375 0.985575 175 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter COPD/asthma related pneumonia or pneumonia derived septichaemia 0.00236 -0.7478 0.2459 SLC9C1 rs144423530 3:112169290:A:T 3 112169290 A T 3:111888137 0.978905 3132 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pterygium 0.000984 1.6332 0.4957 Other and unspecified mononeuropathies of upper limb 0.0002128 20.823 5.623 SLC9C1 rs28413123 3:112274902:G:A 3 112274902 G A 3:111993749 0.960727 1100 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the hip and thigh 0.000272 -0.658 0.1807 CCDC80 rs116307644 3:112638489:G:A 3 112638489 G A 3:112357336 0.961667 1201 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unknown and unspecified causes of morbidity 0.000604 1.5525 0.4527 Chronic hepatitis, not elsewhere classified 0.0005881 112.212 32.648 NEPRO rs147762157 3:113013348:C:T 3 113013348 C T 3:112732195 0.984541 0.0189908 168 6809 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Radial styloid tenosynovitis [de Quervain] 6.07e-05 0.9001 0.2245 Other noninflammatory disorders of vulva and perineum 0.0002315 4.459 1.211 AC026348.1 rs185086524 3:113304042:G:A 3 113304042 G A 3:113022889 0.98209 0.00347045 4 1271 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hernia of abodminal wall, postoperative 9.31e-05 1.2049 0.3083 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0 3.639 0 AC026348.1 rs58191991 3:113326478:G:A 3 113326478 G A 3:113045325 0.98571 939 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postydysenteric arthropathy 0.00106 6.2179 1.8994 Other encephalitis 0.001007 77.004 23.416 AC026348.1 rs187266046 3:113330342:A:T 3 113330342 A T 3:113049189 0.917041 356 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myocardial infarction 0.000888 1.0133 0.3049 CFAP44 rs140356033 3:113400593:C:T 3 113400593 C T 3:113119440 0.95089 889 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ocular pain 0.00124 2.0548 0.6361 Benign neoplasm of thyroid gland 0.003979 99.552 34.568 DRD3 rs6280 3:114171968:C:T 3 114171968 C T 3:113890815 0.999898 80548 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Rectosigmoid junction 0.000131 0.2998 0.0784 Benign neoplasm: Rectosigmoid junction 0.0001242 0.201 0.052 ZBTB20 rs138924453 3:114350760:C:T 3 114350760 C T 3:114069607 0.987989 600 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Post-traumatic wound infection, not elsewhere classified 0.00177 5.3271 1.7039 Endocrine, nutritional and metabolic diseases 0 1.97 0 ZBTB20 rs149352178 3:114350828:G:C 3 114350828 G C 3:114069675 0.991045 2390 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute peritonitis 0.000541 1.3311 0.3848 Diplopia 0.0001355 25.176 6.597 ZBTB20 rs144663365 3:114350914:G:C 3 114350914 G C 3:114069761 0.976598 0.00468714 20 1702 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Disorders of synovium and tendon 4.41e-05 0.492 0.1204 Vocal cord dysfunction 0.0001925 20.124 5.397 ARHGAP31 rs751793 3:119383206:C:T 3 119383206 C T 3:119102053 0.996213 781 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adams-Oliver syndrome;not provided Dermatitis herpetiformis 0.00102 4.5712 1.3916 Endocrine, nutritional and metabolic diseases 0 1.677 0 ARHGAP31 rs139600783 3:119390922:C:T 3 119390922 C T 3:119109769 0.942369 2168 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adams-Oliver syndrome;not provided;not specified Hard cardiovascular diseases 0.00265 -0.2478 0.0824 Other, unspecified and serous retinal detachments 0.0009005 72.716 21.903 ARHGAP31 rs3732413 3:119414336:G:A 3 119414336 G A 3:119133183 0.998631 0.834548 255976 50627 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of breast, intraductal 7.2e-05 -0.2936 0.074 2.249e-05 -0.114 0.027 ARHGAP31 rs149658506 3:119415731:G:A 3 119415731 G A 3:119134578 0.99374 316 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Examination and observation for other reasons 0.000736 0.8805 0.2608 POGLUT1 rs142565532 3:119485351:A:G 3 119485351 A G 3:119204198 0.995802 787 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of arteries, arterioles and capillaries 0.000766 -0.5979 0.1777 Endocrine, nutritional and metabolic diseases 0 1.881 0 CD80 rs2229098 3:119537173:G:A 3 119537173 G A 3:119256020 0.939144 585 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pyothorax 0.000429 4.6096 1.3089 HGD rs2255543 3:120670469:T:A 3 120670469 T A 3:120389316 0.979107 0.727326 194448 72763 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications predominantly related to the puerperium 3.68e-05 0.1516 0.0367 Complications predominantly related to the puerperium 0.0002189 0.086 0.023 STXBP5L rs61996323 3:121233639:G:A 3 121233639 G A 3:120952486 0.965748 768 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital deformities of hip 0.00134 5.7546 1.7945 POLQ rs3218633 3:121490040:T:G 3 121490040 T G 3:121208887 0.924665 377 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasms (other cancers excluded from controls) 0.000436 -0.4971 0.1413 GOLGB1 rs144385283 3:121696867:C:G 3 121696867 C G 3:121415714 0.985335 665 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical abortion 5e-04 0.733 0.2106 Toxic effect of alcohol 0.0003147 209.767 58.222 GOLGB1 rs114420009 3:121697966:G:A 3 121697966 G A 3:121416813 0.995303 1979 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Childhood asthma (age<16) (more controls excluded) 0.000208 0.8241 0.2222 Toxic effect of alcohol 0.001543 56.408 17.814 IQCB1 rs139468837 3:121772575:T:A 3 121772575 T A 3:121491422 0.98229 4289 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nephronophthisis;Renal dysplasia and retinal aplasia;not specified Bacterial pneumonia, not elsewhere classified 0.000376 0.313 0.088 Viral infections of the central nervous system 4.092e-05 13.701 3.34 IQCB1 rs140630401 3:121772683:C:T 3 121772683 C T 3:121491530 0.937604 116 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Tubulo-interstitial nephritis, not spesified as acute or chronic 0.000727 6.7587 2.0001 IQCB1 rs11920543 3:121781850:G:A 3 121781850 G A 3:121500697 0.992802 20510 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;Renal dysplasia and retinal aplasia Eosinophilia 0.00048 0.9429 0.27 Noise effects on inner ear 0.0003005 2.012 0.557 IQCB1 rs17849995 3:121781852:C:T 3 121781852 C T 3:121500699 0.999116 67423 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, wide definition, subgroup 1 0.000954 0.0967 0.0293 Acute appendicitis, with complications 0.0001385 0.148 0.039 IQCB1 rs1141528 3:121788384:A:T 3 121788384 A T 3:121507231 0.98114 38461 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Patellar tendinitis 0.000365 0.6281 0.1762 Salphingitis and oophoritis 0.002657 0.25 0.083 EAF2 rs139737449 3:121886372:G:A 3 121886372 G A 3:121605219 0.953678 496 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter All influenza 0.000157 1.5728 0.4162 ILDR1 rs141559449 3:121993425:G:A 3 121993425 G A 3:121712272 0.884956 203 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Progressive vascular leukoencephalopathy 0.000278 14.8491 4.0853 ILDR1 rs3915061 3:121993958:G:C 3 121993958 G C 3:121712805 0.995217 77424 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified diabetic retinopathy 0.000133 0.1624 0.0425 Special screening examination for other diseases and disorders 0.001471 0.159 0.05 ILDR1 rs144519399 3:121994196:G:A 3 121994196 G A 3:121713043 0.998524 12043 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Type 2 diabetes, strict (exclude DM1) 0.000908 0.1065 0.0321 Other maternal disorders predominantly related to pregnancy 0.0009581 0.577 0.175 CASR rs62269092 3:122261783:G:A 3 122261783 G A 3:121980630 0.991675 412 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypocalciuric hypercalcemia;Hypocalcemia;Hypocalcemia, autosomal dominant 1;Hypocalciuric hypercalcemia, familial, type 1;Hypoparathyroidism familial isolated;Neonatal severe hyperparathyroidism;not provided;not specified Pain associated with micturition 0.000598 2.3545 0.6859 Amyloidosis, other/unspecified 0.001001 83.868 25.489 CASR rs1801725 3:122284910:G:T 3 122284910 G T 3:122003757 0.997567 0.128823 6250 41078 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter SLE (Finngen) 3.76e-05 0.4387 0.1064 Vitamin B12 deficiency anaemia 0.0001557 0.426 0.113 CASR rs1042636 3:122284922:A:G 3 122284922 A G 3:122003769 0.997045 34346 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cervicocranial syndrome 0.000529 0.2412 0.0696 Cervicocranial syndrome 2.779e-05 0.634 0.151 CASR rs1801726 3:122284985:G:C 3 122284985 G C 3:122003832 0.99903 27218 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gestational [pregnancy-induced] oedema and proteinuria without hypertension 0.000133 -0.5572 0.1458 Gestational [pregnancy-induced] oedema and proteinuria without hypertension 0.0001202 -0.298 0.077 PARP9 rs146564634 3:122550697:C:T 3 122550697 C T 3:122269544 0.98718 17829 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropod-borne viral fevers and viral haemorrhagic fevers 0.00049 0.3302 0.0947 Superficial injury of hip and thigh 0.00011 1.112 0.287 DTX3L rs77786095 3:122569465:G:T 3 122569465 G T 3:122288312 0.964029 0.00111326 0 409 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of radial nerve 9.46e-05 6.1466 1.5744 ADCY5 rs147630334 3:123318027:C:T 3 123318027 C T 3:123036874 0.986088 1406 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary coxarthrosis, bilateral 0.000656 0.7221 0.2119 Chromosomal abnormalities, not elsewhere classified 1.201e-06 167.94 34.588 ADCY5 rs61734561 3:123327663:C:G 3 123327663 C G 3:123046510 0.947319 3594 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Chronic nephritic syndrome 0.000204 1.2075 0.3252 8.802e-06 6.298 1.417 MYLK rs202177283 3:123638188:G:A 3 123638188 G A 3:123357035 0.971839 1132 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Familial abdominal aortic aneurysm 1 General examination and investigation of persons without complaint and reported diagnosis 0.000198 0.4235 0.1138 4.174e-05 -1.835 0.448 MYLK rs75967604 3:123700269:GTTC:G 3 123700269 GTTC G 3:123419116 0.997142 6214 inframe_indel dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not specified Obstructive hydrocephalus 0.000362 1.9776 0.5545 Abnormal findings on diagnostic imaging of lung 0.0008934 2.272 0.684 MYLK rs3732487 3:123700726:G:T 3 123700726 G T 3:123419573 0.995761 23366 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not specified Postzoster neuralgia 0.000269 1.0049 0.2758 Supervision of normal pregnancy 0.0007542 0.269 0.08 MYLK rs3732486 3:123700886:A:G 3 123700886 A G 3:123419733 0.995683 23367 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not specified Postzoster neuralgia 0.00027 1.0047 0.2758 Supervision of normal pregnancy 0.0005632 0.277 0.08 MYLK rs3732485 3:123700935:G:A 3 123700935 G A 3:123419782 0.995957 18131 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aortic aneurysm, familial thoracic 6;Aortic aneurysm, familial thoracic 7;Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not provided;not specified Postzoster neuralgia 0.00101 1.0208 0.3104 Labour and delivery complicated by fetal stress [distress] 7.668e-05 1.125 0.284 MYLK rs35156360 3:123733085:G:A 3 123733085 G A 3:123451932 0.973839 3291 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aortic aneurysm, familial thoracic 7;Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not provided;not specified Mental and behavioural disorders due to sedatives or hypnotics 0.000146 1.0675 0.2811 Carcinoid syndrome 0.002357 36.655 12.053 MYLK rs3796164 3:123734214:A:G 3 123734214 A G 3:123453061 0.983918 8124 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not provided;not specified Cardiac arrhytmias, COPD co-morbidities 0.000516 -0.1386 0.0399 Hypertension 0.0003427 0.537 0.15 MYLK rs201754358 3:123739030:C:T 3 123739030 C T 3:123457877 0.969236 554 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype Kyphosis 0.00143 8.6191 2.7039 Multiple myeloma and malignant plasma cell neoplasms 0.001575 106.839 33.805 MYLK rs9840993 3:123739046:G:A 3 123739046 G A 3:123457893 0.99226 8953 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postzoster neuralgia 0.000129 -1.834 0.4791 Eosinophilia 0.0001296 -0.877 0.229 MYLK rs140148380 3:123739976:C:A 3 123739976 C A 3:123458823 0.988185 709 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary open-angle glaucoma, strict 0.000698 1.2368 0.3648 MYLK rs28497577 3:123793780:G:T 3 123793780 G T 3:123512627 0.981488 19489 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not provided;not specified Open wound of wrist and hand 0.0012 0.1392 0.043 Failed attempted abortion 0.000508 3.756 1.08 KALRN rs56407180 3:124584849:C:T 3 124584849 C T 3:124303696 0.998456 281 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion confined to eye and adnexa 0.000582 7.4303 2.16 KALRN rs56106611 3:124658479:T:G 3 124658479 T G 3:124377326 0.997091 1330 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of binocular movement 0.0011 3.5961 1.1015 0 2.849 0 UMPS rs17843776 3:124730559:A:G 3 124730559 A G 3:124449406 0.98068 3078 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary orotic aciduria, type 1;Orotic aciduria;not specified Hypertrophy of (infrapatellar) fat pad 0.000452 3.1547 0.8994 Nasal polyp 0.0006631 5.223 1.534 UMPS rs1801019 3:124737895:G:C 3 124737895 G C 3:124456742 0.999985 0.182981 12652 54573 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Short Achilles tendon (acquired) 1.94e-05 0.5067 0.1186 Short Achilles tendon (acquired) 1.572e-05 0.801 0.186 UMPS rs202158549 3:124740198:C:T 3 124740198 C T 3:124459045 0.996278 381 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Inflammatory disorders of breast 0.00259 3.5348 1.1732 UMPS rs3772809 3:124743977:A:G 3 124743977 A G 3:124462824 0.999993 0.00806232 32 2930 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Orotic aciduria Adhesive middle ear disease 1.65e-05 3.3486 0.7774 Other osteochondropathies 0.0009587 10.622 3.216 ITGB5 rs201926531 3:124841442:G:A 3 124841442 G A 3:124560289 0.98653 970 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other diseases of arteries and capillaries 0.00126 1.4877 0.4612 Problems related to life-management difficulty 0.003308 28.991 9.869 ALDH1L1 rs143122118 3:126160912:C:T 3 126160912 C T 3:125879755 0.903405 1595 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of skin 0.00171 -0.4139 0.132 Disorders of sclera, cornea, iris and ciliary body 6.706e-05 5.473 1.373 UROC1 rs34488036 3:126507782:G:A 3 126507782 G A 3:126226625 0.974891 0.0106863 56 3870 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified corneal deformities and disorders 7.66e-05 1.7394 0.4398 Other and unspecified glaucoma 0.001073 10.076 3.081 C3orf56 rs140075011 3:127197193:G:A 3 127197193 G A 3:126916036 0.967726 3317 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Phobic anxiety disorders 0.00042 0.6964 0.1974 Other symptoms and signs involving general sensations and perceptions 6.885e-05 35.145 8.83 MCM2 rs3087450 3:127608466:G:A 3 127608466 G A 3:127327309 0.983774 1384 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Allergic rhinitis 0.000714 0.6211 0.1835 Benign neoplasm: Short bones of upper limb 0.0003758 191.291 53.786 GATA2 rs191501191 3:128485888:C:T 3 128485888 C T 3:128204731 0.992402 9756 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;Lymphedema, primary, with myelodysplasia;Lymphedema, primary, with myelodysplasia;not specified Other/unspecified disorders of vestibular function 0.000337 0.9283 0.2589 Burn and corrosion of wrist and hand 0.004702 5.107 1.807 GATA2 rs2335052 3:128486108:C:T 3 128486108 C T 3:128204951 0.996668 55127 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other cataract 0.000929 -0.0847 0.0256 Testicular dysfunction 0.0005091 0.737 0.212 GATA2 rs34799090 3:128486117:G:C 3 128486117 G C 3:128204960 0.881067 1099 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency;Lymphedema, primary, with myelodysplasia;Lymphedema, primary, with myelodysplasia;not specified Retinal vein occlusion (central or branch) 0.000419 3.3504 0.9497 Convulsions, not elsewhere classified 0.000368 17.006 4.774 GATA2 rs143590990 3:128486911:G:C 3 128486911 G C 3:128205754 0.995455 618 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diabetes insipidus 0.000974 7.8293 2.374 ACAD9 rs115532916 3:128904079:G:A 3 128904079 G A 3:128622922 0.987903 17070 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acyl-CoA dehydrogenase family, member 9, deficiency of;not provided Benign neoplasm: Skin of ear and external auricular canal (other cancers excluded from controls) 0.000761 0.5346 0.1588 Presence of other devices 0.0005432 0.826 0.239 ACAD9 rs4494951 3:128909044:G:A 3 128909044 G A 3:128627887 0.996546 11771 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acyl-CoA dehydrogenase family, member 9, deficiency of;not provided;not specified Pain in thoracic spine 0.000613 0.3326 0.0971 Primary angle-closure glaucoma 2.97e-05 3.788 0.907 GP9 rs3796130 3:129062205:G:A 3 129062205 G A 3:128781048 0.988498 0.00984246 36 3580 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bernard Soulier syndrome;not specified Other disorders of binocular movement 1.26e-05 2.5344 0.5803 Other and unspecified mental retardation 0.001607 55.679 17.65 MBD4 rs2307293 3:129431542:C:G 3 129431542 C G 3:129150385 0.858237 88 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Personality and behavioural disorders due to brain disease, damage and dysfunction 0.000693 25.3442 7.4707 IFT122 rs138793724 3:129461276:A:G 3 129461276 A G 3:129180119 0.9267 0.00214215 0 787 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pleural effusion 9.32e-05 2.0118 0.5148 IFT122 rs61744639 3:129478141:C:T 3 129478141 C T 3:129196984 0.969093 1415 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Viral infections characterized by skin and mucous membrane lesions 0.000143 0.7494 0.1971 IFT122 rs144397126 3:129488348:A:C 3 129488348 A C 3:129207191 0.982096 7735 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cranioectodermal dysplasia Excessive, freguent and irrelgular menstruation 0.00183 0.1522 0.0488 Retinal detachment with retinal break 8.823e-05 2.976 0.759 IFT122 rs61740161 3:129495459:G:A 3 129495459 G A 3:129214302 0.998042 13911 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cranioectodermal dysplasia;not specified Open wound of head 0.000435 -0.1683 0.0478 Iron deficiency anaemia secondary to blood loss (chronic) 0.000766 1.238 0.368 IFT122 rs200606803 3:129519583:T:A 3 129519583 T A 3:129238426 0.935363 183 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified lump in breast 0.000255 3.3763 0.9231 PLXND1 rs147110369 3:129570895:C:T 3 129570895 C T 3:129289738 0.990531 0.010082 54 3650 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyp of the female genital tract 6.09e-05 0.4122 0.1028 Desensitization to allergens 0.000659 11.768 3.455 PLXND1 rs144843366 3:129571135:G:A 3 129571135 G A 3:129289978 0.971831 0.0167126 110 6030 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polycystic ovarian syndrome 1.12e-05 1.332 0.3032 Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 0.0002132 4.668 1.261 PLXND1 rs137955512 3:129578400:G:A 3 129578400 G A 3:129297243 0.981079 0.00948588 50 3435 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lumbosacral root disorders, not elsewhere classified 3.07e-05 2.531 0.6072 0.0005626 5.624 1.631 PLXND1 rs112755880 3:129578412:T:C 3 129578412 T C 3:129297255 0.958524 1727 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cystic kidney disease 0.00012 2.4998 0.6498 Type 2 diabetes, wide definition 0.0007081 3.502 1.034 PLXND1 rs117182497 3:129586616:C:A 3 129586616 C A 3:129305459 0.993278 3364 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of binocular movement 0.000218 2.1442 0.5799 Injury of nerves at lower leg level 0.002506 38.923 12.877 TRH rs5658 3:129975838:C:G 3 129975838 C G 3:129694681 0.998312 31000 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Asthma/COPD (KELA code 203) 0.00195 -0.069 0.0223 Lesion of plantar nerve 0.0001738 0.775 0.206 COL6A6 rs111457392 3:130571225:C:T 3 130571225 C T 3:130290069 0.921399 446 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chronic sinusitis 0.00119 0.9107 0.2811 COL6A6 rs200960657 3:130581896:C:T 3 130581896 C T 3:130300740 0.991644 221 pLoF unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Arthropathy in ulcerative colitis 0.000201 16.7413 4.5038 COL6A6 rs143290812 3:130649254:G:A 3 130649254 G A 3:130368098 0.935248 563 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonspesific lymphadenitis 0.00013 3.219 0.8412 PIK3R4 rs56369596 3:130718421:G:C 3 130718421 G C 3:130437265 0.992152 6882 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dronedarone medication 0.00121 0.9055 0.2799 Chrystal arthropathies, rheuma endpoint 0.0003934 16.518 4.66 PIK3R4 rs141740732 3:130733656:C:T 3 130733656 C T 3:130452500 0.970982 0.00259127 0 952 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of internal orthopaedic prosthetic devices, implants and grafts 5.46e-05 1.3754 0.3409 NUDT16 rs150437674 3:131382112:C:G 3 131382112 C G 3:131100956 0.983879 3736 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other deformities of toe(s) 0.00114 1.2354 0.3796 Pain in thoracic spine 0.002562 6.523 2.163 MRPL3 rs143176048 3:131462737:T:C 3 131462737 T C 3:131181581 0.95557 0.000223197 0 82 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of cardiac septa 6.09e-05 12.1546 3.0316 MRPL3 rs148679749 3:131462839:C:T 3 131462839 C T 3:131181683 0.994891 408 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinal haemorrhage 0.000202 9.7821 2.6325 MRPL3 rs2291381 3:131469730:A:G 3 131469730 A G 3:131188574 0.993996 2810 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Endometriosis of uterus 0.000174 0.7944 0.2116 Other noninflammatory disorders of cervix uteri 6.866e-05 27.664 6.949 MRPL3 rs151331067 3:131501584:C:T 3 131501584 C T 3:131220428 0.962453 504 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute pharyngitis 0.000899 1.8441 0.5554 DNAJC13 rs61748101 3:132494190:A:G 3 132494190 A G 3:132213034 0.909296 538 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic lower respiratory diseases 0.000106 0.5744 0.1482 DNAJC13 rs61748103 3:132499777:G:A 3 132499777 G A 3:132218621 0.961699 2541 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endocrine disorders, other/unspecified 0.000368 2.5614 0.7191 Fracture of skull and facial bones 0.0004947 6.909 1.983 DNAJC13 rs138367039 3:132538225:G:A 3 132538225 G A 3:132257069 0.981982 1428 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contact with and exposure to communicable diseases 0.000567 1.5721 0.4561 Type 2 diabetes 3.909e-06 1.819 0.394 UBA5 rs114925667 3:132675903:G:A 3 132675903 G A 3:132394747 0.942865 1670 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 44;Epileptic encephalopathy, early infantile, 44;Spinocerebellar ataxia, autosomal recessive 24;not provided Cystic kidney disease 0.00111 2.0152 0.6182 Benign neoplasm: Rectosigmoid junction 0.0007401 91.547 27.131 NPHP3 rs34391943 3:132684574:C:T 3 132684574 C T 3:132403418 0.996145 0.0150713 112 5425 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Meckel-Gruber syndrome;Nephronophthisis;Renal-hepatic-pancreatic dysplasia;not provided;not specified Other and unspecified effects of external causes 5.18e-05 0.4247 0.1049 Metatarsalgia 6.012e-05 6.523 1.626 NPHP3 rs267606916 3:132696798:G:A 3 132696798 G A 3:132415642 0.944922 192 pLoF recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Unspecified diabetes with multiple/unspecified complications 0.000333 8.8149 2.4569 NPHP3 rs139730838 3:132699952:A:G 3 132699952 A G 3:132418796 0.991268 225 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of intestine 0.000903 3.7319 1.1244 NPHP3 rs141477666 3:132708187:G:A 3 132708187 G A 3:132427031 0.995843 1813 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nephronophthisis;not specified Discitis, unspecified 0.000836 3.8258 1.1452 Psoriasis 0.001232 8.433 2.61 NPHP3 rs142021049 3:132708219:T:C 3 132708219 T C 3:132427063 0.965424 413 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Toxic liver disease 0.000145 12.1197 3.1904 NPHP3 rs145643112 3:132722202:C:T 3 132722202 C T 3:132441046 0.970914 0.0179129 138 6443 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;not provided;not specified Primary coxarthrosis, bilateral 3.77e-05 0.4183 0.1015 Other disorders of veins 0.0004449 1.686 0.48 BFSP2 rs79087781 3:133472541:C:A 3 133472541 C A 3:133191385 0.991734 15509 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cataract;Cataract 12, multiple types;not specified Otitis externa, unspecified 0.000871 -0.3842 0.1154 Other disorders of breast and lactation associated with childbirth 0.0008413 5.176 1.55 TOPBP1 rs17301766 3:133637946:G:A 3 133637946 G A 3:133356790 0.997884 49226 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other facial nerve disorders 0.000196 -0.4383 0.1177 Erythema multiforme 8.144e-05 0.896 0.227 TF rs41298293 3:133748493:G:T 3 133748493 G T 3:133467337 0.996437 4150 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of choroid 0.000351 2.3404 0.6547 0.0001985 1.118 0.3 TF rs41298295 3:133748522:G:A 3 133748522 G A 3:133467366 0.977886 343 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Bullous disorders 0.000157 5.5476 1.4676 TF rs1799899 3:133756968:G:A 3 133756968 G A 3:133475812 0.998578 0.137258 7008 43419 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic pulmonary fibrosis (attempt to specificity) 7.31e-05 0.299 0.0754 Family history of certain disabilities and chronic diseases leading to disablement 0.0002446 0.778 0.212 TF rs41295774 3:133757854:A:G 3 133757854 A G 3:133476698 0.998998 0.0098724 34 3593 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Atransferrinemia;Transferrin variant chi Abnormal findings on antenatal screening of mother 2.38e-05 1.3937 0.3298 Other noninflammatory disorders of vulva and perineum 0.0009585 9.401 2.847 TF rs1049296 3:133775510:C:T 3 133775510 C T 3:133494354 0.992838 36635 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified vascular occlusions 0.000245 0.2694 0.0735 Episodal and paroxysmal disorders 0.0003229 0.098 0.027 TF rs121918677 3:133777188:G:A 3 133777188 G A 3:133496032 0.982157 265 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Retinal detachments and breaks 0.000373 1.6137 0.4534 SLCO2A1 rs150345667 3:133945171:T:C 3 133945171 T C 3:133664015 0.97596 244 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Tongue 0.000331 8.5268 2.3754 SLCO2A1 rs146970901 3:133945223:G:A 3 133945223 G A 3:133664067 0.997588 4292 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Allergic urticaria 0.000529 0.7861 0.2268 Alcohol abuse, main dg 1.07e-05 6.118 1.39 SLCO2A1 rs201797879 3:134029726:G:A 3 134029726 G A 3:133748570 0.929754 879 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanoma in situ 0.00074 3.3348 0.9883 Ovarian cyst 1.309e-06 3.478 0.719 AMOTL2 rs143351962 3:134370916:C:T 3 134370916 C T 3:134089758 0.971614 0.0105692 44 3839 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified fall 8.37e-05 3.2652 0.8301 Vitamin deficiency 0.0003422 17.362 4.848 CEP63 rs114108011 3:134537268:G:C 3 134537268 G C 3:134256110 0.998405 27880 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Scoliosis 0.00306 0.2595 0.0876 Other congenital malformations of circulatory system 0.0005552 1.745 0.505 CEP63 rs1127826 3:134559428:C:T 3 134559428 C T 3:134278270 0.996802 85471 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arthritis (FG) 0.000209 0.09 0.0243 0.0001108 0.464 0.12 KY rs35026874 3:134604001:C:T 3 134604001 C T 3:134322843 0.987302 713 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Examination and observation for other reasons 0.000264 0.6417 0.1759 Respiratory conditions due to other external agents 0.001167 72.85 22.437 KY rs189059675 3:134608661:T:A 3 134608661 T A 3:134327503 0.896278 421 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Wide developmental disorders (more controls excluded) 0.000871 6.8949 2.071 PCCB rs200185747 3:136250424:C:A 3 136250424 C A 3:135969266 0.967543 0.00122486 0 450 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Conjunctiva (other cancers excluded from controls) 4.52e-05 7.1327 1.7486 PCCB rs77820367 3:136298060:G:A 3 136298060 G A 3:136016902 0.994188 0.00478785 6 1753 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Propionyl-CoA carboxylase deficiency;not provided Diabetic ketoacidosis 7.49e-05 0.7277 0.1838 Tobacco use 0.0004326 169.825 48.254 PCCB rs145628302 3:136328780:A:G 3 136328780 A G 3:136047622 0.999718 1384 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Global developmental delay;Hyperammonemia;Propionyl-CoA carboxylase deficiency Other abnormal immunological findings in serum 0.000402 4.5553 1.2873 Other specified congenital malformation syndromes affecting multiple systems 0.0006045 130.073 37.927 PCCB rs142403318 3:136328849:C:T 3 136328849 C T 3:136047691 0.929183 0.000492667 0 181 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disturbances of skin sensation 4.47e-05 3.0937 0.758 A4GNT rs113881039 3:138124491:G:A 3 138124491 G A 3:137843333 0.984352 3260 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Smoking dependancy 0.00105 1.0034 0.3063 Other heart diseases 0.0001912 1.55 0.415 FOXL2 rs201840174 3:138945678:G:C 3 138945678 G C 3:138664520 0.814798 121 missense_variant dominant not provided not_provided no assertion provided none Medical observation and evaluation for suspected diseases and conditions 0.000675 0.9614 0.2828 FOXL2 rs7432551 3:138946187:G:C 3 138946187 G C 3:138665029 0.993189 0.0508046 978 17687 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Blepharophimosis, ptosis, and epicanthus inversus;not specified Pain (limb, back, neck, head abdominally) 2.74e-05 -0.0671 0.016 Other abnormal findings in urine 0.001379 4.281 1.338 MRPS22 rs76148008 3:139350291:C:T 3 139350291 C T 3:139069133 0.988819 253 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Follicular cysts of skin and subcutaneous tissue 0.00173 2.1092 0.6732 MRPS22 rs201627731 3:139350980:A:G 3 139350980 A G 3:139069822 0.978899 0.00101255 0 372 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Decubitus ulcer and pressure area 9.65e-05 6.1388 1.5744 MRPS22 rs140631494 3:139352655:C:G 3 139352655 C G 3:139071497 0.970352 0.0140723 114 5056 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Tobacco use 6.81e-06 1.9135 0.4253 Vertigo of central origin 0.0002503 20.346 5.556 MRPS22 rs147932653 3:139355741:C:T 3 139355741 C T 3:139074583 0.959813 98 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of skin of scalp and neck 0.000382 33.8575 9.5305 CLSTN2 rs41265459 3:140448648:T:A 3 140448648 T A 3:140167490 0.955529 468 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dementia due to Parkinsons disease (more controls excluded) 0.000948 6.5047 1.9679 RASA2 rs143035190 3:141580380:A:G 3 141580380 A G 3:141299222 0.998249 3002 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Lack of expected normal physiological development 0.00012 2.1378 0.5559 Other disorders of thyroid 0.00106 81.237 24.812 RASA2 rs201360260 3:141608687:C:G 3 141608687 C G 3:141327529 0.981246 3709 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Superficial injury of forearm 0.00035 -0.8822 0.2468 Osteomyelitis 1.479e-05 18.625 4.299 ATR rs2229032 3:142459302:C:T 3 142459302 C T 3:142178144 0.998635 52198 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Urticaria 0.000179 -0.114 0.0304 Fracture at wrist and hand level 0.0002937 0.162 0.045 ATR rs28910273 3:142469495:A:C 3 142469495 A C 3:142188337 0.981788 444 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Immune disease comorbidities 0.000759 0.654 0.1942 ATR rs150339560 3:142493223:A:G 3 142493223 A G 3:142212065 0.942511 111 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspecified abortion 0.000277 8.8899 2.445 ATR rs2227932 3:142498695:A:G 3 142498695 A G 3:142217537 0.986918 40725 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intestinal malabsorbtion 0.000626 0.3535 0.1034 IBD patients in KELA-register 0.0007182 -0.261 0.077 ATR rs34124242 3:142513566:T:C 3 142513566 T C 3:142232408 0.992432 3322 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Inguinal hernia 0.00141 0.2356 0.0738 Problems related to certain psychosocial circumstances 0.002119 6.91 2.249 ATR rs148064542 3:142519700:G:A 3 142519700 G A 3:142238542 0.988125 284 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcer of lower limb, not elsewhere classified 0.000571 3.4387 0.9982 ATR rs28910271 3:142550233:C:T 3 142550233 C T 3:142269075 0.996319 1525 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seckel syndrome;not provided;not specified Chorioretinal inflammation 0.000614 2.6013 0.7594 Other disorders of bone density and structure 0.001029 82.919 25.261 ATR rs141783863 3:142553256:A:G 3 142553256 A G 3:142272098 0.99877 0.00148345 2 543 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified mononeuropathies of lower limb 8.28e-05 5.1191 1.3005 ATR rs146202702 3:142553328:A:G 3 142553328 A G 3:142272170 0.980351 224 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectropion of eyelid 0.00111 5.9323 1.8186 ATR rs77208665 3:142555928:T:C 3 142555928 T C 3:142274770 0.990094 1189 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Seckel syndrome 1;not provided Other disorders of cornea 0.000302 1.7055 0.472 Other disorders of bone density and structure 0.0004493 169.577 48.322 ATR rs150008448 3:142562410:T:C 3 142562410 T C 3:142281252 0.994191 0.00785546 24 2862 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs 1.59e-05 1.3236 0.3067 Non-small cell lung cancer, squamous (other cancers excluded from controls) 3.584e-05 44.28 10.714 ATR rs28897764 3:142562456:C:T 3 142562456 C T 3:142281298 0.996385 1524 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seckel syndrome;not specified Chorioretinal inflammation 0.000612 2.6023 0.7595 Other disorders of bone density and structure 0.001029 82.919 25.261 ATR rs2229033 3:142562511:C:G 3 142562511 C G 3:142281353 0.981857 4655 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;not specified Premature separation of placenta [abruptio placentae] 0.00355 1.2345 0.4234 AION (anterior ischemic optic neuropathy) 0.0003469 18.553 5.186 ATR rs2227928 3:142562770:A:G 3 142562770 A G 3:142281612 0.999598 90782 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Any dementia (more controls excluded) 0.000382 0.084 0.0236 Other headache syndromes 9.601e-05 -0.057 0.015 ATR rs28897763 3:142566145:G:A 3 142566145 G A 3:142284987 0.995107 16862 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seckel syndrome;not provided;not specified Other metabolic disorders 0.000123 0.3815 0.0994 Contusion of toe(s) without damage to nail 0.000427 3.987 1.132 PLOD2 rs1375582 3:146085355:T:A 3 146085355 T A 3:145803142 0.997424 91915 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis 0.000164 0.0735 0.0195 Endometriosis 0.002786 0.049 0.016 PLOD2 rs145809663 3:146104306:T:C 3 146104306 T C 3:145822093 0.980965 1968 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Perineal laceration during delivery 0.000766 0.9071 0.2696 Torticollis 0.002268 40.828 13.375 ZIC1 rs143292136 3:147413447:A:G 3 147413447 A G 3:147131234 0.980832 1042 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Internar derangement of knee 0.00124 -0.3999 0.1238 AGTR1 rs12721225 3:148741765:G:T 3 148741765 G T 3:148459552 0.859522 276 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rosacea 0.000989 3.8283 1.1623 CPA3 rs143184657 3:148883652:G:C 3 148883652 G C 3:148601439 0.96717 889 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Other and unspecified parts of small intestine 0.000729 3.9457 1.168 0.00254 -3.15 1.044 CPA3 rs140470073 3:148883682:C:T 3 148883682 C T 3:148601469 0.969595 4088 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disorders of psychological development 0.00112 2.3048 0.7072 Injuries to the thorax 0.002885 2.197 0.737 GYG1 rs146101365 3:148994232:G:A 3 148994232 G A 3:148712019 0.992541 654 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal serum enzyme levels 0.00025 1.3705 0.3742 GYG1 rs75445811 3:149024053:G:A 3 149024053 G A 3:148741840 0.997575 186 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behavioural disorders due to tobacco 0.000953 6.2807 1.9008 HLTF rs61755303 3:149063459:A:T 3 149063459 A T 3:148781246 0.953379 0.0023218 2 851 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postmenopausal bleeding 3.01e-05 1.0829 0.2595 Invasive ventilation 0.0004001 80.715 22.801 HLTF rs114322607 3:149071340:T:C 3 149071340 T C 3:148789127 0.99617 188 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to tobacco 0.000988 6.2139 1.8865 HPS3 rs78336249 3:149162256:G:A 3 149162256 G A 3:148880043 0.99539 4785 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hermansky-Pudlak syndrome;not specified Other disorders of kidney and ureter 0.000459 0.6516 0.186 Charcot foot 9.257e-05 31.939 8.17 CP rs139633388 3:149178609:C:G 3 149178609 C G 3:148896396 0.972249 565 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Cholelithiasis 0.000296 0.6134 0.1695 CP rs115552500 3:149183513:C:T 3 149183513 C T 3:148901300 0.988181 0.00213126 4 779 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deficiency of ferroxidase;not specified Open wound of wrist and hand 2.31e-05 0.9167 0.2166 Statin medication 0 2.078 0 CP rs61733458 3:149198428:G:A 3 149198428 G A 3:148916215 0.982424 0.0222136 214 7947 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deficiency of ferroxidase;not specified Other and unspecified acute skin changes due to ultraviolet radiation 6.73e-05 1.2628 0.3169 Benign neoplasm: Choroid (other cancers excluded from controls) 2.72e-05 8.055 1.92 CP rs701753 3:149198448:T:A 3 149198448 T A 3:148916235 0.990889 19354 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Motor disorders (more controls excluded) 0.00242 -0.8085 0.2666 Motor disorders (more controls excluded) 0.001084 -0.456 0.14 CP rs35331711 3:149199783:G:A 3 149199783 G A 3:148917570 0.991727 0.00163859 2 600 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Small fibre neuropathy 2.85e-05 8.304 1.9843 CLRN1 rs121908140 3:150928107:A:C 3 150928107 A C 3:150645894 0.995026 0.00444761 12 1622 LC recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Usher syndrome, type 3A;not provided Hereditary retinal dystrophy 1.84e-08 7.3087 1.2989 Hereditary retinal dystrophy 0 390.999 0 IGSF10 rs112889898 3:151436721:C:T 3 151436721 C T 3:151154509 0.937123 642 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Wide developmental disorders (more controls excluded) 0.000494 5.9482 1.7073 IGSF10 rs570110855 3:151437207:G:GTGAT 3 151437207 G GTGAT 3:151154995 0.987838 751 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of meninges 0.000182 3.2264 0.8619 Retinoschisis and retinal cysts 0.0006673 120.486 35.409 IGSF10 rs35736581 3:151443542:T:A 3 151443542 T A 3:151161330 0.989838 478 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.000978 1.1776 0.3572 IGSF10 rs144316007 3:151446269:T:C 3 151446269 T C 3:151164057 0.989472 1774 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Urticaria and erythema 0.00023 0.5691 0.1545 Hypertensive diseases (excluding secondary) 0 2.411 0 IGSF10 rs35667704 3:151447744:G:C 3 151447744 G C 3:151165532 0.967821 4257 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified intracranial injuries 0.000624 1.5187 0.4439 0.0002145 0.946 0.256 IGSF10 rs116716539 3:151448261:C:T 3 151448261 C T 3:151166049 0.998177 4006 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ischaemic heart disease, wide definition 0.000344 -0.2058 0.0575 Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.0007375 11.961 3.544 IGSF10 rs142668910 3:151449106:C:T 3 151449106 C T 3:151166894 0.957157 1239 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy with abortive outcome 0.000797 -0.3752 0.1119 Other and unspecified intracranial injuries 6.387e-06 101.884 22.575 IGSF10 rs138756085 3:151453632:C:T 3 151453632 C T 3:151171420 0.939948 1000 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthrosis 0.000421 0.3511 0.0996 Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.0001034 24.675 6.355 MME rs61758194 3:155142066:G:A 3 155142066 G A 3:154859855 0.985243 622 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bacterial pneumonia, not elsewhere classified 0.000456 0.881 0.2513 SLC33A1 rs76440173 3:155828335:C:T 3 155828335 C T 3:155546124 0.961981 0.000969003 0 356 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hernia 1.82e-05 0.7926 0.1849 SLC33A1 rs3804769 3:155853486:T:C 3 155853486 T C 3:155571275 0.99868 18977 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia, autosomal dominant;not specified Other obstructive and reflux uropathy 0.000377 0.3157 0.0888 Lichen sclerosus et atrophicus 0.0006892 1.427 0.42 SLC33A1 rs149571533 3:155853862:C:T 3 155853862 C T 3:155571651 0.996582 4447 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;Spastic paraplegia, autosomal dominant;not specified Nonsuppurative otitis media 0.00149 0.3733 0.1175 Cervicocranial syndrome 0.0006272 5.304 1.551 GMPS rs61750370 3:155931787:A:C 3 155931787 A C 3:155649576 0.984523 7927 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Special screening examination for infectious and parasitic diseases 0.000465 -0.2671 0.0763 Convulsions, not elsewhere classified 7.67e-05 2.205 0.558 PTX3 rs191352729 3:157437882:A:G 3 157437882 A G 3:157155671 0.981277 10115 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lower back pain or/and sciatica 0.000111 0.1424 0.0368 Anoxic brain damage 0.0005516 13.136 3.803 GFM1 rs35942089 3:158645674:A:G 3 158645674 A G 3:158363463 0.998327 5050 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Combined oxidative phosphorylation deficiency;not specified Dislocation, sprain and strain of joint and ligaments of hip 0.000196 1.4646 0.3932 Atypical facial pain 0.002291 7.145 2.343 GFM1 rs2303909 3:158649111:G:A 3 158649111 G A 3:158366900 0.999795 91578 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of other and unspecified endocrine glands (other cancers excluded from controls) 0.000505 -0.1464 0.0421 Leiomyoma of uterus (other cancers excluded from controls) 3.722e-05 0.048 0.012 GFM1 rs199976922 3:158665413:C:T 3 158665413 C T 3:158383202 0.943549 153 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Low back pain 0.000273 1.4316 0.3934 LXN rs115108034 3:158671006:C:T 3 158671006 C T 3:158388795 0.992447 10154 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Muscle strain 0.000142 1.0384 0.273 Nonischemic cardiomyopathy 8.396e-05 4.071 1.035 LXN rs116725077 3:158672433:C:T 3 158672433 C T 3:158390222 0.964839 0.00462454 10 1689 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postmenopausal bleeding 3.76e-05 0.7112 0.1725 Palmar fascial fibromatosis [Dupuytren] 0.0001323 19.967 5.224 GFM1 rs62288347 3:158690243:G:A 3 158690243 G A 3:158408032 0.999744 18246 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined oxidative phosphorylation deficiency;not provided;not specified Other/unspecified enthesopathies, not elsewhere classified 0.000226 0.3436 0.0932 0.002664 3.435 1.143 IFT80 rs6778728 3:160279273:T:A 3 160279273 T A 3:159997061 0.997961 72120 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other acquired deformities of musculoskeletal system and connective tissue 0.00031 0.2504 0.0694 Other acquired deformities of musculoskeletal system and connective tissue 4.945e-05 0.353 0.087 IFT80 rs144099135 3:160307663:G:A 3 160307663 G A 3:160025451 0.994415 2104 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Jeune thoracic dystrophy;not provided;not specified Gastric ulcer 0.00237 0.6076 0.1999 Varicose veins 0.0002482 2.124 0.58 IFT80 rs148926415 3:160319837:C:T 3 160319837 C T 3:160037625 0.968009 0.000773025 2 282 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pterygium 9.83e-05 12.1879 3.1293 B3GALNT1 rs200235398 3:161086553:G:A 3 161086553 G A 3:160804341 0.992523 646 pLoF unknown Affects association no assertion criteria provided no_Criteria Mixed specific developmental disorders 0.000345 7.6911 2.149 SI rs9917722 3:164982253:G:C 3 164982253 G C 3:164700041 0.946319 22 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified iron deficiency 0.00138 8.3251 2.6026 SI rs79717168 3:164983015:A:C 3 164983015 A C 3:164700803 0.909913 145 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Postmenopausal atrophic vaginitsi 0.00132 8.558 2.6649 SI rs4855271 3:164996744:C:T 3 164996744 C T 3:164714532 0.990757 19033 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain and other conditions associated with female genital organs and menstrual cycle 0.000171 -0.2436 0.0648 Pain and other conditions associated with female genital organs and menstrual cycle 9.894e-05 -0.131 0.034 SI rs143388292 3:165009359:T:C 3 165009359 T C 3:164727147 0.937856 137 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Polyuria 0.000675 2.8723 0.845 SI rs146785675 3:165023746:A:G 3 165023746 A G 3:164741534 0.971927 503 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Migraine, single triptan purchase ok & required. ICD-code if available is included 0.00113 0.7311 0.2245 SI rs150246328 3:165037931:T:C 3 165037931 T C 3:164755719 0.944071 0.000892789 0 328 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Status post-ami 6.56e-05 3.777 0.9462 SI rs121912615 3:165046998:A:C 3 165046998 A C 3:164764786 0.991566 564 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other bursitis of knee 0.00028 8.9653 2.4675 SI rs138434001 3:165059937:C:T 3 165059937 C T 3:164777725 0.958964 0.000457282 0 168 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other renal tubulo-interstitial diseases 6.16e-05 13.4173 3.3487 SI rs77546399 3:165060005:G:A 3 165060005 G A 3:164777793 0.986191 0.00142356 10 513 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sucrase-isomaltase deficiency;not provided Other strabismus 7.87e-05 1.6538 0.4189 Congenital malformations of breast 0.0006303 126.364 36.968 SI rs9283633 3:165065377:T:C 3 165065377 T C 3:164783165 0.998129 82206 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other postsurgical states 0.00022 0.2342 0.0634 0.0007091 0.076 0.022 SI rs9290264 3:165075970:C:A 3 165075970 C A 3:164793758 0.997883 73027 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of thorax 0.000282 0.3768 0.1038 Artificial opening status 0.0005022 0.39 0.112 BCHE rs1803274 3:165773492:C:T 3 165773492 C T 3:165491280 0.999956 52722 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonia derived septichemia 0.000431 0.3711 0.1054 Asthma/COPD (KELA code 203) 0.0003847 0.095 0.027 BCHE rs28933390 3:165829781:C:A 3 165829781 C A 3:165547569 0.999189 501 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl BCHE, fluoride 2;Deficiency of butyrylcholine esterase Other specified and unspecified strabismus 0.00165 8.6668 2.7535 4.075e-05 1.889 0.46 BCHE rs16849700 3:165830185:C:G 3 165830185 C G 3:165547973 0.999973 1092 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deficiency of butyrylcholine esterase;not specified Osteopathies and chondropathies 0.000214 0.6126 0.1655 Calculus of lower urinary tract 0.0002976 239.778 66.286 BCHE rs1799807 3:165830741:T:C 3 165830741 T C 3:165548529 0.998613 4371 missense_variant unknown Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deficiency of butyrylcholine esterase;Postanesthetic apnea Follow-up examination after treatment for malignant neoplasms 0.000596 0.6814 0.1985 Giant cell arteritis 0.0003857 16.722 4.711 SERPINI1 rs33917740 3:167789149:C:G 3 167789149 C G 3:167506937 0.997616 42105 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy examination and test 0.000378 -0.1284 0.0361 Femoral hernia 0.001173 0.548 0.169 SERPINI1 rs61735306 3:167789234:C:A 3 167789234 C A 3:167507022 0.990726 0.00175292 2 642 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other infectious diseases 1.94e-05 2.9801 0.6976 SERPINI1 rs61750375 3:167790410:G:A 3 167790410 G A 3:167508198 0.912347 575 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Other and unspecified parts of small intestine (other cancers excluded from controls) 0.000247 5.6503 1.5414 SERPINI1 rs55872908 3:167794781:G:A 3 167794781 G A 3:167512569 0.995398 0.00491034 14 1790 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Encephalopathy, familial, with neuroserpin inclusion bodies Carcinoma in situ of skin of other and unspecified parts of face 6.36e-05 2.1341 0.5337 Purpura and other haemorrhagic conditions 0.0001111 26.291 6.802 MECOM rs200965422 3:169112872:A:G 3 169112872 A G 3:168830660 0.990988 534 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other puerperal infections 0.000363 3.2995 0.9254 Ovarian cyst 1.001e-08 5.808 1.013 SKIL rs61761943 3:170392359:T:A 3 170392359 T A 3:170110147 0.96868 8213 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 0.000249 -0.1519 0.0415 Diabetic ketoacidosis 1.662e-05 1.961 0.455 SLC7A14 rs114883808 3:170481153:C:T 3 170481153 C T 3:170198942 0.920684 1653 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of veins 0.000434 0.6164 0.1752 Rheumatic valve diseases 0.0003179 56.358 15.654 SLC7A14 rs116040996 3:170486307:G:A 3 170486307 G A 3:170204096 0.994169 2781 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (Atypical or mixed) 0.000652 1.2415 0.3642 Motor disorders (more controls excluded) 0.0004844 143.853 41.228 SLC2A2 rs5397 3:170998046:G:C 3 170998046 G C 3:170715835 0.991463 532 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Supervision of high-risk pregnancy 0.00216 -0.7509 0.2448 SLC2A2 rs76362149 3:170999148:C:A 3 170999148 C A 3:170716937 0.991621 1047 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fanconi-Bickel syndrome;not provided Other and unspecified injuries of shoulder and upper arm 0.000769 3.9244 1.1666 Endocrine, nutritional and metabolic diseases 0 1.761 0 SLC2A2 rs5400 3:171014511:G:A 3 171014511 G A 3:170732300 0.999539 0.131422 6580 41703 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes, definitions combined 2.25e-06 -0.0823 0.0174 Other specified/unspecified hearing loss 0.0007213 0.498 0.147 SLC2A2 rs7637863 3:171014637:G:A 3 171014637 G A 3:170732426 0.98612 1383 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monogenic diabetes;not specified Other renal tubulo-interstitial diseases 0.000197 3.1998 0.8594 3.349e-05 41.527 10.01 TNIK rs192746498 3:171093840:T:G 3 171093840 T G 3:170811629 0.975425 778 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aplastic and other anaemias 0.00137 0.7418 0.2317 PLD1 rs143845082 3:171699780:G:A 3 171699780 G A 3:171417570 0.997917 3731 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of anus and rectum 0.000252 -0.4415 0.1206 Other specified and unspecified disorders of eye and adnexa 0.00058 13.718 3.987 PLD1 rs148972595 3:171734911:C:T 3 171734911 C T 3:171452701 0.965793 306 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myocarditis 0.000253 4.9525 1.3534 NCEH1 rs138242499 3:172710939:C:T 3 172710939 C T 3:172428729 0.972058 9041 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pervasive developmental disorders excl. Autism + Asperger 0.000359 1.7348 0.4861 Colectomy operation 9.192e-05 3.074 0.786 SPATA16 rs115095786 3:172913722:G:A 3 172913722 G A 3:172631512 0.99684 11163 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Spermatogenic Failure Injuries to the abdomen, lower back, lumbar spine and pelvis 0.000114 0.2365 0.0613 Maternal care for other known or suspected fetal problems 0.0005103 1.168 0.336 SPATA16 rs16846616 3:173117292:C:T 3 173117292 C T 3:172835082 0.99702 21801 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spermatogenic Failure Other inflammatory liver diseases 0.000166 0.419 0.1113 Beningn neoplasm: Meninges, unspecified 0.0002167 3.355 0.907 SPATA16 rs140920981 3:173117302:T:G 3 173117302 T G 3:172835092 0.890749 204 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Arthropod-borne viral fevers and viral haemorrhagic fevers 0.00133 3.5045 1.092 SPATA16 rs1515442 3:173117335:T:C 3 173117335 T C 3:172835125 0.998823 0.251554 23458 68960 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General examination and investigation of persons without complaint and reported diagnosis 1.72e-06 0.0713 0.0149 Gluteal tendinitis 0.0005806 0.464 0.135 SPATA16 rs1515441 3:173117500:C:T 3 173117500 C T 3:172835290 0.996805 21934 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spermatogenic Failure Other inflammatory liver diseases 0.00014 0.4231 0.1111 Beningn neoplasm: Meninges, unspecified 0.0002225 3.334 0.903 SPATA16 rs146572379 3:173117602:A:T 3 173117602 A T 3:172835392 0.977376 9766 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spermatogenic Failure Injury of muscle and tendon at ankle and foot level 0.000759 1.0209 0.3032 Other noninflammatory disorders of cervix uteri 0.0006981 3.621 1.068 SPATA16 rs115897458 3:173117679:T:C 3 173117679 T C 3:172835469 0.947389 2903 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aphakia 0.000213 2.6596 0.7182 Other prurigo 0.0007147 110.193 32.564 PIK3CA rs2230461 3:179209622:A:G 3 179209622 A G 3:178927410 0.995809 10833 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Atrophic disorders of skin 0.000152 0.4651 0.1228 Other extrapyramidal and movement disorders+ in other diseases 0.0003298 1.929 0.537 KCNMB3 rs143962239 3:179242978:CT:C 3 179242978 CT C 3:178960766 0.998881 10995 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Atrophic disorders of skin 0.000177 0.4621 0.1232 Benign neoplasm: Other/unspecified site (other cancers excluded from controls) 0.00116 10.278 3.164 KCNMB3 rs55710741 3:179243250:T:C 3 179243250 T C 3:178961038 0.996398 21370 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Colitis, primary sclerosing, strict definition 0.000202 1.152 0.31 0.000686 0.221 0.065 GNB4 rs61750380 3:179401278:C:T 3 179401278 C T 3:179119066 0.996021 7111 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Charcot-Marie-Tooth disease, dominant intermediate F Meniscus derangement 0.000578 0.1849 0.0537 Injury of nerves and spinal cord at neck level 0.000578 14.074 4.089 CCDC39 rs200353947 3:180616289:T:TA 3 180616289 T TA 3:180334077 0.984221 5922 LC unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Other specified congenital malformation syndromes affecting multiple systems 0.00018 1.9227 0.5134 Other specified congenital malformation syndromes affecting multiple systems 0.0004593 13.599 3.882 CCDC39 rs201097154 3:180616545:G:A 3 180616545 G A 3:180334333 0.9771 281 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Recurrent dislocation and subluxation of joint 0.00244 2.9673 0.9789 CCDC39 rs61733583 3:180616670:C:T 3 180616670 C T 3:180334458 0.929604 197 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary hypertension 0.000938 3.9488 1.1935 CCDC39 rs200277460 3:180642002:T:C 3 180642002 T C 3:180359790 0.980357 0.00115137 0 423 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other necrotizing vasculopathies (FG) 9.24e-05 4.3234 1.1058 CCDC39 rs112738198 3:180659741:G:C 3 180659741 G C 3:180377529 0.986188 11514 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Malignant neoplasm of rectum 0.000425 0.4949 0.1404 Other female pelvic inflammatory diseases 0.000712 1.339 0.396 CCDC39 rs115952495 3:180661985:C:T 3 180661985 C T 3:180379773 0.995001 3075 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified Other neurological diseases 0.00066 0.2806 0.0824 Benign neoplasm of other and unspecified sites (other cancers excluded from controls) 1.826e-05 65.728 15.339 FXR1 rs201838203 3:180975394:A:G 3 180975394 A G 3:180693182 0.962556 668 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on examination of urine, without diagnosis 0.000493 3.6023 1.0337 SOX2 rs199887134 3:181713011:G:T 3 181713011 G T 3:181430799 0.979531 684 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Autonomic disorders 0.000405 5.8678 1.659 Diaphragmatic hernia 0.0002967 13.944 3.854 MCCC1 rs142867987 3:183020213:G:A 3 183020213 G A 3:182738001 0.985381 0.000887345 0 326 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified polyneuropathies, also in other diseases 4.94e-05 2.9011 0.7148 MCCC1 rs34749281 3:183034058:C:T 3 183034058 C T 3:182751846 0.964772 3378 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter 3 Methylcrotonyl-CoA carboxylase 1 deficiency;3-MCC Deficiency;not specified Injuries to the thorax 0.000571 0.3643 0.1058 Hypertrophic scar 0.0001473 25.062 6.603 MCCC1 rs2270968 3:183037421:T:G 3 183037421 T G 3:182755209 0.998366 70866 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson's disease, strict definition 0.000553 0.1473 0.0427 Other neurotic disorders 0.001084 -0.118 0.036 MCCC1 rs201758122 3:183071314:C:T 3 183071314 C T 3:182789102 0.936978 104 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Haemorrhage, not elsewhere classified 0.000102 20.5127 5.2778 MCCC1 rs7622479 3:183072461:G:A 3 183072461 G A 3:182790249 0.998189 21936 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Central retinal artery occlusion 0.000318 -0.8037 0.2232 Lymphoid leukaemia (other cancers excluded from controls) 0.0002439 -0.26 0.071 MCCC1 rs148616219 3:183092428:T:G 3 183092428 T G 3:182810216 0.988245 689 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Juvenile rheuma 0.00107 4.5932 1.4042 YEATS2 rs188928313 3:183790881:G:A 3 183790881 G A 3:183508669 0.803634 228 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postpartum haemorrhage 0.000701 2.0273 0.5982 EIF2B5 rs843358 3:184143455:A:G 3 184143455 A G 3:183861243 0.999814 77577 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colorectal cancer (other cancers excluded from controls) 0.000184 0.1207 0.0323 0.0001286 0.106 0.028 DVL3 rs201329929 3:184165465:A:G 3 184165465 A G 3:183883253 0.958192 279 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obesity due to excess calories 0.00061 1.623 0.4736 DVL3 rs200137383 3:184165474:C:T 3 184165474 C T 3:183883262 0.976836 2515 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for other conditions predominantly related to pregnancy 0.00108 -0.5696 0.1743 Plantar fascial fibromatosis 0.0004071 14.822 4.192 ALG3 rs186946267 3:184242883:C:T 3 184242883 C T 3:183960671 0.991416 303 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Sicca syndrome [Sjogren] 0.000117 4.0013 1.0387 ALG3 rs2233463 3:184245593:T:C 3 184245593 T C 3:183963381 0.956364 531 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autoimmune thyroiditis 0.000934 6.3584 1.9211 EIF4G1 rs2178403 3:184321878:A:G 3 184321878 A G 3:184039666 0.999649 77378 missense_variant dominant Benign (likely)Benign no assertion criteria provided no_Criteria Complications of surgical and medical care, not elsewhere classified 0.000219 0.0499 0.0135 Inflammatory disease of cervix uteri 0.0002311 -0.125 0.034 EIF4G1 rs35629949 3:184327609:C:G 3 184327609 C G 3:184045397 0.994339 789 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Duodenum 0.000185 5.3765 1.4382 CLCN2 rs2228292 3:184352800:C:G 3 184352800 C G 3:184070588 0.992638 11235 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Leukoencephalopathy with ataxia;not specified Disorders of globe 0.000509 0.9318 0.2681 Psoriasis 0.0003205 1.117 0.31 CLCN2 rs111656822 3:184353113:C:T 3 184353113 C T 3:184070901 0.992643 11240 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy with grand mal seizures on awakening;Leukoencephalopathy with ataxia;not specified Disorders of globe 0.000506 0.9328 0.2682 Psoriasis 0.0002809 1.14 0.314 CLCN2 rs9820367 3:184353275:G:C 3 184353275 G C 3:184071063 0.977688 90652 missense_variant both Uncertain significance VUS no assertion criteria provided no_Criteria Congenital malformations of the nervous system 0.000754 -0.3571 0.106 Other symptoms and signs involving general sensations and perceptions 0.00105 0.227 0.069 CLCN2 rs71318369 3:184357688:C:T 3 184357688 C T 3:184075476 0.996956 685 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified lump in breast 0.00036 1.6067 0.4504 CLCN2 rs144412275 3:184358977:C:T 3 184358977 C T 3:184076765 0.989664 0.00802421 48 2900 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Leukoencephalopathy with ataxia;not specified Symptoms and signs involving the nervous and musculoskeletal systems 3.3e-05 -0.4252 0.1024 Other diseases of peritoneum 1.001e-05 21.555 4.88 MAGEF1 rs544302047 3:184711769:T:TC 3 184711769 T TC 3:184429557 0.945837 0.0101827 52 3689 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for examination and investigation 2.16e-05 -0.1472 0.0347 Background retinopathy and retinal vascular changes 9.656e-05 29.82 7.648 VPS8 rs61742617 3:184886122:G:A 3 184886122 G A 3:184603910 0.975481 0.000669592 0 246 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bell's palsy 4.72e-05 4.0227 0.9886 VPS8 rs74927619 3:184930527:G:A 3 184930527 G A 3:184648315 0.975728 1380 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertrophy of (infrapatellar) fat pad 0.000164 5.5099 1.4617 Dislocation, sprain and strain of joints and ligaments of knee 0.0002583 6.397 1.751 EHHADH rs56056620 3:185192281:T:A 3 185192281 T A 3:184910069 0.895812 359 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Connective and other soft tissue of lower limb, including hip 0.000846 6.9475 2.0818 EHHADH rs199916968 3:185192534:G:A 3 185192534 G A 3:184910322 0.977681 261 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other complications of labour and delivery, not elsewhere classified 0.000506 4.2088 1.2103 EHHADH rs146431168 3:185193392:C:T 3 185193392 C T 3:184911180 0.909296 0.000277636 0 102 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified coagulation defects 6.28e-05 12.5253 3.1297 AHSG rs150486317 3:186613349:C:T 3 186613349 C T 3:186331138 0.992707 10835 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Urehtritis and urethral syndrome 0.000271 1.0535 0.2893 Congenital malformations of the respiratory system 0.0001873 8.706 2.33 AHSG rs4917 3:186619924:T:C 3 186619924 T C 3:186337713 0.996391 0.610009 136888 87222 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Otosclerosis 1.66e-06 -0.2179 0.0455 Sequelae of cerebrovascular disease 0.0002023 0.068 0.018 AHSG rs4918 3:186620593:G:C 3 186620593 G C 3:186338382 0.996373 0.610017 136900 87213 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Otosclerosis 1.65e-06 -0.218 0.0455 Sequelae of cerebrovascular disease 0.0002369 0.068 0.018 AHSG rs35457250 3:186620775:C:T 3 186620775 C T 3:186338564 0.995219 0.0255561 252 9137 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transient global amnesia 7.69e-05 0.5772 0.146 Dermatographic urticaria 0.0004001 4.023 1.136 HRG rs114895145 3:186666156:G:A 3 186666156 G A 3:186383945 0.999739 1235 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Peritonsillar abscess 0.00042 0.821 0.2327 Hypermobility syndrome 0.00298 31.057 10.458 HRG rs2229331 3:186677611:G:A 3 186677611 G A 3:186395400 0.98851 2369 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diabetes, insuline treatment (Kela reimbursement) 0.000385 0.2489 0.0701 Chromosomal abnormalities, not elsewhere classified 0.0007908 103.019 30.697 KNG1 rs76438938 3:186743735:C:T 3 186743735 C T 3:186461524 0.997107 5237 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign lipomatous neoplasm (other cancers excluded from controls) 0.00042 0.347 0.0984 Infections of breast associated with childbirth 0.000588 13.447 3.912 ADIPOQ rs777281402 3:186853079:TCTA:T 3 186853079 TCTA T 3:186570868 0.962262 161 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Monoarthritis, not elsewhere classified 0.000624 8.0918 2.3654 ADIPOQ rs62625753 3:186854237:G:A 3 186854237 G A 3:186572026 0.990388 433 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Divergent concomitant strabismus 0.000189 3.1893 0.8544 Other extrapyramidal and movement disorders+ in other diseases 0.00177 48.648 15.561 MASP1 rs28945070 3:187226434:T:C 3 187226434 T C 3:186944222 0.994768 561 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nystagmus and other irregular eye movements 0.000132 11.0122 2.8807 MASP1 rs28945068 3:187241507:C:T 3 187241507 C T 3:186959295 0.989943 7742 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Michels syndrome Single spontaneous delivery 0.000402 0.1314 0.0371 Horner syndrome 0.0004911 15.033 4.313 SST rs33934967 3:187669234:T:G 3 187669234 T G 3:187387022 0.936131 1808 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impotence 0.000124 2.2456 0.5851 Diseases of external ear 0.0002694 6.567 1.803 BCL6 rs2229362 3:187728423:C:T 3 187728423 C T 3:187446211 0.997654 35181 missense_variant unknown not provided not_provided no assertion provided none Disorders of globe 0.000227 0.5436 0.1474 Chronic conjunctivitis 0.0005929 1.065 0.31 BCL6 rs61752081 3:187729913:C:A 3 187729913 C A 3:187447701 0.992451 0.0254908 246 9119 missense_variant unknown not provided not_provided no assertion provided none not specified Perioral dermatitis 3.34e-06 2.0108 0.4325 Gonarthrosis 0.0004663 0.651 0.186 LPP rs149437411 3:188609231:C:T 3 188609231 C T 3:188327019 0.977881 823 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Connective and other soft tissue of lower limb, including hip 0.000229 4.4253 1.2011 Other disorders of urethra and urinary system 0 9.855 0 LPP rs9830664 3:188874357:G:A 3 188874357 G A 3:188592145 0.994066 446 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of stomach and duodenum 0.000233 3.5496 0.9646 Dermatitis and eczema 0 6.378 0 TP63 rs148076109 3:189889363:C:A 3 189889363 C A 3:189607152 0.977398 0.00106155 2 388 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varus deformity, not elsewhere classified 4.62e-05 15.3828 3.7757 CLDN1 rs140846629 3:190312890:C:T 3 190312890 C T 3:190030679 0.989231 0.022434 224 8018 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Choroid 7.2e-05 1.0264 0.2586 Other enthesopathies 7.915e-05 1.596 0.404 CLDN16 rs760754693 3:190388282:AG:A 3 190388282 AG A 3:190106071 0.999013 69008 pLoF recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of lower leg, including ankle 5e-04 -0.0645 0.0185 Acute appendicitis, no complications 5.254e-05 0.088 0.022 CLDN16 rs3214506 3:190388285:G:C 3 190388285 G C 3:190106074 0.999151 69009 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of lower leg, including ankle 0.000475 -0.0647 0.0185 Acute appendicitis, no complications 6.022e-05 0.087 0.022 CLDN16 rs139846352 3:190409954:C:A 3 190409954 C A 3:190127743 0.997738 6113 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Poisoning by drugs, medicaments and biological substances 0.000856 -0.3193 0.0958 General examination and investigation of persons without complaint and reported diagnosis 7.188e-05 1.042 0.263 CCDC50 rs35380043 3:191369951:A:T 3 191369951 A T 3:191087740 0.99447 15069 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Non-small cell lung cancer, adenocarcinoma 0.000709 0.5448 0.1609 Malignant neoplasm of rectum (other cancers excluded from controls) 0.0003235 1.644 0.457 CCDC50 rs2028574 3:191375386:T:A 3 191375386 T A 3:191093175 0.999747 85589 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hydatidiform mole 0.000212 0.5045 0.1362 Myocarditis 0.0001513 -0.223 0.059 CCDC50 rs4677728 3:191375521:A:G 3 191375521 A G 3:191093310 0.999759 85590 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hydatidiform mole 0.000212 0.5045 0.1362 Myocarditis 0.0001512 -0.223 0.059 CCDC50 rs293813 3:191380177:T:C 3 191380177 T C 3:191097966 0.999862 90427 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sequelae of injuries of lower limb 0.000804 0.14 0.0418 Contraceptive management 5.601e-05 0.053 0.013 CCDC50 rs147604673 3:191389569:C:T 3 191389569 C T 3:191107358 0.991107 8935 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Diseases of spleen 0.000177 1.8195 0.4852 Phobic anxiety disorders 0.0005203 2.049 0.59 ATP13A5 rs74437357 3:193334980:G:A 3 193334980 G A 3:193052769 0.996999 16646 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Type 1 diabetes with other specified/multiple/unspecified complications 0.000532 -0.2405 0.0694 0.0006523 -0.288 0.084 ATP13A4 rs142942671 3:193514750:T:C 3 193514750 T C 3:193232539 0.881378 125 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other coagulation defects 0.000585 7.235 2.1041 OPA1 rs75414918 3:193614733:C:A 3 193614733 C A 3:193332522 0.994699 714 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vitamin deficiency 0.00109 3.0159 0.9234 OPA1 rs1195734623 3:193614797:TTTCACGAAGCATTTATCA:T 3 193614797 TTTCACGAAGCATTTATCA T 3:193332586 0.991515 1739 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm of eye and adnexa 0.000376 1.342 0.3773 Chondrocostal junction syndrome [Tietze] 0.002 47.969 15.523 OPA1 rs7624750 3:193617202:G:A 3 193617202 G A 3:193334991 0.999714 90016 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Suppurative otitis media, unspecified 0.000574 0.281 0.0816 Spinal osteochondrosis 0.0003785 -0.329 0.093 OPA1 rs34307082 3:193618887:C:T 3 193618887 C T 3:193336676 0.998382 9339 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Optic Atrophy, Dominant;not provided;not specified Injuries to the elbow and forearm 0.000474 -0.1594 0.0456 Medical observation and evaluation for suspected diseases and conditions 0.000824 -0.449 0.134 OPA1 rs190235251 3:193659547:C:T 3 193659547 C T 3:193377336 0.924298 99 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Obstructive hydrocephalus 0.00074 24.6284 7.2987 CPN2 rs149427019 3:194341948:G:A 3 194341948 G A 3:194062677 0.994961 0.00841073 20 3070 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Pituitary gland, craniopharyngeal duct 1.86e-05 1.6969 0.3964 Glaucoma suspect 9.492e-05 7.593 1.945 LSG1 rs114485048 3:194652863:G:A 3 194652863 G A 3:194373592 0.802549 43 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of eye and adnexa (other cancers excluded from controls) 0.000154 17.6839 4.6721 FAM43A rs73200549 3:194687573:G:T 3 194687573 G T 3:194408302 0.940322 924 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of thyroid gland (other cancers excluded from controls) 0.000264 2.2662 0.6212 Enteropathic arthropathies 0.0005808 130.04 37.798 APOD rs5952 3:195579418:A:G 3 195579418 A G 3:195306289 0.971346 2384 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parkinson's disease 0.00136 0.7404 0.2311 Perineal laceration during delivery 0.0003643 15.693 4.402 TNK2 rs13433937 3:195864185:C:T 3 195864185 C T 3:195591056 0.997252 11522 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hyperplasia of prostate 0.000138 0.195 0.0512 Recurrent dislocation of patella 0.0006252 2.559 0.748 TNK2 rs148323328 3:195867585:C:T 3 195867585 C T 3:195594456 0.90287 0.00186996 4 683 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm of colon, rectum, anus and anal canal 2.98e-05 0.9082 0.2175 0.0005601 80.952 23.463 TNK2 rs112384084 3:195867623:C:T 3 195867623 C T 3:195594494 0.938747 3210 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Parkinson disease;not specified Antepartum haemorrhage, not elsewhere classified 0.0016 0.8843 0.2801 0.000368 17.258 4.845 TNK2 rs56260729 3:195868079:G:A 3 195868079 G A 3:195594950 0.981293 68368 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perineal laceration during delivery 0.000281 0.1647 0.0454 Disorders of synovium and tendon in diseases classified elsewhere 0.0001952 0.613 0.165 TCTEX1D2 rs142927338 3:196296059:G:A 3 196296059 G A 3:196022930 0.996569 400 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of rectosigmoid junction 0.000232 9.411 2.5566 TM4SF19 rs147419407 3:196327503:C:G 3 196327503 C G 3:196054374 0.993765 1687 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Symptoms and signs involving cognition, perception, emotional state and behaviour 0.000594 -0.2927 0.0852 Acute nasopharyngitis(common cold) 0.0004088 14.06 3.978 RNF168 rs3796129 3:196472333:G:T 3 196472333 G T 3:196199204 0.998946 82594 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular pucker 0.00125 0.162 0.0502 Macular pucker 0.0007411 0.114 0.034 RNF168 rs114025031 3:196487449:C:T 3 196487449 C T 3:196214320 0.991102 1796 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Subjective visual disturbances 0.00154 0.6908 0.2181 Kyphosis 0.0002486 274.918 75.039 SENP5 rs34326043 3:196886230:G:A 3 196886230 G A 3:196613101 0.951126 1112 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute and transient psychotic disorders 0.000201 1.3281 0.3573 Chronic lower respiratory diseases 7.402e-05 2.789 0.704 DLG1 rs35430440 3:197081057:A:C 3 197081057 A C 3:196807928 0.974168 2055 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of intestines 0.000416 0.2232 0.0632 Diabetic maculopathy (more controls excluded) 0.005255 18.609 6.668 RUBCN rs115638090 3:197704575:C:T 3 197704575 C T 3:197431446 0.974645 1135 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy 0.00104 -0.9437 0.2878 Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.0005729 5.063 1.47 RUBCN rs61743568 3:197705165:C:T 3 197705165 C T 3:197432036 0.992527 21382 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Other peripheral vertigo 0.000619 0.3132 0.0915 Other diseases of intestine 0.0006729 1.046 0.307 PIGG rs140860254 4:499359:C:G 4 499359 C G 4:493148 0.948338 771 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of liver 0.000773 1.3936 0.4145 PIGG rs373951989 4:508895:A:G 4 508895 A G 4:502684 0.821339 189 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other degenerative diseases of the nervous system 0.000132 2.1018 0.5499 PIGG rs115766555 4:521714:C:G 4 521714 C G 4:515503 0.973475 0.00249328 2 914 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified dorsalgia 5.75e-05 0.8421 0.2093 PIGG rs141442388 4:523543:G:A 4 523543 G A 4:517332 0.873917 122 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of shoulder and upper arm 0.000313 18.0636 5.012 PIGG rs201269761 4:527184:G:A 4 527184 G A 4:520973 0.993021 0.0075261 24 2741 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental retardation, autosomal recessive 53 Other facial nerve disorders 7.84e-05 2.3031 0.5832 Other infectious diseases 0.0002831 17.686 4.872 PDE6B rs79826315 4:625771:G:T 4 625771 G T 4:619560 0.807719 187 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified mononeuropathies of lower limb 0.000515 8.7384 2.5163 PDE6B rs115775983 4:634704:G:A 4 634704 G A 4:628493 0.99288 2290 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive Hordeolum and other deep inflammation of eyelid 0.000496 1.6535 0.4747 Meralgia paraesthetica 0.001414 63.203 19.802 PDE6B rs62295357 4:635913:T:C 4 635913 T C 4:629702 0.980361 857 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not provided;not specified Myocardial infarction, strict 0.00064 0.6734 0.1972 Disturbances of smell and taste 0.0007547 95.275 28.281 PDE6B rs778367741 4:657494:GGTGCGGCGGGGCAGGACGTCCAGGGGTCACCCAGGGGTCACGGCT:G 4 657494 GGTGCGGCGGGGCAGGACGTCCAGGGGTCACCCAGGGGTCACGGCT G 4:651283 0.950721 16167 pLoF both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of ankle and foot 0.000167 0.4189 0.1113 Intracerebral haemmorrhage 5.187e-05 1.713 0.423 PDE6B rs61733857 4:670068:C:T 4 670068 C T 4:663857 0.905596 8925 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Dominant;Retinitis Pigmentosa, Recessive Acute upper respiratory infections 0.000511 0.1079 0.0311 Other puerperal infections 0.000105 5.766 1.487 PDE6B rs28675771 4:670119:A:G 4 670119 A G 4:663908 0.950483 80116 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cellulitis 0.0013 -0.105 0.0327 Diabetes, opthalmic co-morbidities 0.0008048 0.17 0.051 IDUA rs11248061 4:987108:C:A 4 987108 C A 4:980896 0.985316 89320 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other noninflammatory disorders of vagina 0.000119 0.1805 0.0469 Malignant neoplasm of corpus uteri (other cancers excluded from controls) 0.0004094 0.163 0.046 IDUA rs10902762 4:987144:G:A 4 987144 G A 4:980932 0.984986 89556 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other noninflammatory disorders of vagina 0.000183 0.1754 0.0469 Other pulmonary heart/vessel disease 0.0004383 -0.246 0.07 IDUA rs10794537 4:987183:T:G 4 987183 T G 4:980971 0.984317 0.786226 227156 61694 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dialysis 1.39e-05 0.362 0.0833 Dialysis 4.6e-05 0.2 0.049 IDUA rs121965020 4:987858:C:T 4 987858 C T 4:981646 0.983054 658 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other mental disorders due to brain damage and dysfunction and to physical disease 0.000296 2.0425 0.5645 IDUA rs148775298 4:987896:C:G 4 987896 C G 4:981684 0.968416 670 missense_variant recessive Benign/Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of blood and blood-forming organs 0.000314 1.4788 0.4104 SLC26A1 rs147669408 4:988932:G:C 4 988932 G C 4:982720 0.893283 328 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anosmia 0.000638 7.2719 2.1294 SLC26A1 rs73219719 4:989824:C:T 4 989824 C T 4:983612 0.993036 8256 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Obesity and other hyperalimentation 0.000131 -0.2435 0.0637 Brachial plexus disorders 0.001854 2.559 0.822 SLC26A1 rs148386572 4:989896:A:G 4 989896 A G 4:983684 0.911896 161 missense_variant recessive Uncertain significance VUS no assertion criteria provided no_Criteria Inguinal hernia 0.000701 1.1912 0.3515 SLC26A1 rs201572215 4:990080:G:A 4 990080 G A 4:983868 0.983376 0.00373719 2 1371 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments at wrist and hand level 2.02e-05 0.921 0.2161 SLC26A1 rs142573758 4:991538:C:T 4 991538 C T 4:985326 0.879779 227 missense_variant recessive Uncertain significance VUS no assertion criteria provided no_Criteria Alzheimer's disease (undefined) 0.00127 13.9538 4.3284 IDUA rs3755955 4:1000626:G:A 4 1000626 G A 4:994414 0.995774 0.156777 8980 48618 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of forearm 6.68e-09 0.1364 0.0235 Fracture of forearm 0.0008879 0.129 0.039 IDUA rs375798875 4:1001973:C:T 4 1001973 C T 4:995761 0.902806 333 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Haemangioma, any site (other cancers excluded from controls) 0.000687 3.3917 0.9991 IDUA rs766950553 4:1002001:C:T 4 1002001 C T 4:995789 0.878554 103 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Labour and delivery complicated by fetal stress [distress] 0.000182 3.7051 0.99 IDUA rs114806891 4:1002080:C:T 4 1002080 C T 4:995868 0.969635 12937 pLoF recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of oesophagus 0.000132 0.4289 0.1122 Congenital deformities of feet 0.000255 4.593 1.256 IDUA rs6830825 4:1002131:G:C 4 1002131 G C 4:995919 0.997595 0.155977 8896 48408 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of forearm 3.62e-09 0.139 0.0236 Fracture of forearm 0.0008666 0.13 0.039 IDUA rs6811373 4:1002209:A:G 4 1002209 A G 4:995997 0.997825 0.156004 8900 48414 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of forearm 3.24e-09 0.1394 0.0236 Fracture of forearm 0.0009258 0.129 0.039 IDUA rs6831021 4:1002224:G:C 4 1002224 G C 4:996012 0.997857 0.156004 8900 48414 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of forearm 3.24e-09 0.1394 0.0236 Fracture of forearm 0.0009246 0.129 0.039 IDUA rs6831280 4:1002377:G:A 4 1002377 G A 4:996165 0.998859 0.156889 8858 48781 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of forearm 3.63e-09 0.1388 0.0235 Fracture of forearm 0.0006937 0.133 0.039 IDUA rs532731688 4:1002887:C:A 4 1002887 C A 4:996675 0.928245 2779 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mucopolysaccharidosis type I;not provided Acute sinusitis 0.00091 -0.3101 0.0935 1.43e-07 2.674 0.508 IDUA rs73066479 4:1002902:G:A 4 1002902 G A 4:996690 0.997545 0.156004 8900 48414 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of forearm 3.22e-09 0.1394 0.0236 Fracture of forearm 0.0009556 0.129 0.039 RNF212 rs60035268 4:1093699:G:A 4 1093699 G A 4:1087487 0.985575 51197 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lymphoid leukaemia 0.000871 0.2945 0.0885 Persons encountering health services for specific procedures, not carried out 0.00127 0.486 0.151 UVSSA rs116741007 4:1355132:G:A 4 1355132 G A 4:1348920 0.919497 181 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified dermatitis 0.000155 1.7199 0.4546 UVSSA rs28522910 4:1380986:C:T 4 1380986 C T 4:1374774 0.999093 0.701425 181322 76373 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthrosis 3.26e-05 -0.0485 0.0117 Arthrosis 0.000357 -0.027 0.008 TACC3 rs745892211 4:1728037:ACAAAGCGGAGACTCCGCACGGAGCCGAGGAAGAATG:A 4 1728037 ACAAAGCGGAGACTCCGCACGGAGCCGAGGAAGAATG A 4:1729764 0.990547 6415 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other respiratory diseases principally affecting the interstitium 0.000347 0.4701 0.1314 Other female pelvic inflammatory diseases 0.0006412 2.433 0.713 FGFR3 rs199944818 4:1801717:G:A 4 1801717 G A 4:1803444 0.957622 1945 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postmenopausal bleeding 0.000521 -0.5442 0.1569 5.972e-05 1.551 0.387 FGFR3 rs17881656 4:1804404:T:C 4 1804404 T C 4:1806131 0.821446 0.000217753 0 80 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Scoliosis 7.21e-05 10.7501 2.7084 FGFR3 rs61735104 4:1804902:C:T 4 1804902 C T 4:1806629 0.972532 17059 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Craniosynostosis;not provided;not specified Other and unspecified trigeminal disorders 0.000211 0.9817 0.265 Nonorganic sleeping disorders (more controls excluded) 0.0001709 1.196 0.318 FGFR3 rs199544087 4:1805761:G:A 4 1805761 G A 4:1807488 0.949265 223 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Calcaneal spur 0.000162 18.4214 4.884 LETM1 rs145996246 4:1841548:G:T 4 1841548 G T 4:1843275 0.963986 3736 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonia (excl. viral and due to other infectious organisms not elsewhere classified) 0.000316 0.1923 0.0534 Dislocation, sprain and strain of joints and ligaments of head 0.001059 16.58 5.064 LETM1 rs61759826 4:1841697:T:C 4 1841697 T C 4:1843424 0.851164 0.000484501 0 178 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Small cell lung cancer (other cancers excluded from controls) 7.74e-05 21.9848 5.5624 WHSC1 rs139753036 4:1935170:C:A 4 1935170 C A 4:1936897 0.990721 7779 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter 4p partial monosomy syndrome Respiratory distress of newborn 0.000408 2.0788 0.5881 Disorders resulting from impaired renal tubular function 0.001134 10.164 3.123 POLN rs3833632 4:2072975:TG:T 4 2072975 TG T 4:2074702 0.979886 0.0026702 4 977 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the digestive system and abdomen 2.9e-05 0.3191 0.0763 Benign neoplasm: Caecum 0.0006115 124.711 36.397 POLN rs11725880 4:2193282:G:A 4 2193282 G A 4:2195009 0.989966 1825 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impotence 0.00109 1.7549 0.5375 Other shoulder lesions 0.0001547 23.301 6.159 FAM193A rs34782960 4:2663247:A:G 4 2663247 A G 4:2664974 0.987956 710 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified diabetes 0.000399 1.1109 0.3138 Open wound of hip and thigh 0.002123 40.408 13.152 SH3BP2 rs200207198 4:2820696:G:A 4 2820696 G A 4:2822423 0.955996 0.00156238 4 570 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fibrous dysplasia of jaw Benign neoplasm: Descending colon 3.84e-05 4.6546 1.1306 Benign neoplasm: Caecum 0.0005798 131.485 38.212 SH3BP2 rs142051964 4:2824672:A:G 4 2824672 A G 4:2826399 0.995643 1155 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fibrous dysplasia of jaw Abnormal findings on examination of blood, without diagnosis 0.000704 -0.6406 0.1891 Osteomyelitis 0.002804 34.255 11.463 SH3BP2 rs35313240 4:2827265:C:T 4 2827265 C T 4:2828992 0.90346 542 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dronedarone medication 0.000454 4.3132 1.23 SH3BP2 rs141518457 4:2829843:G:A 4 2829843 G A 4:2831570 0.94756 183 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other female pelvic inflammatory diseases 0.00101 2.5447 0.7738 SH3BP2 rs145949614 4:2831938:T:C 4 2831938 T C 4:2833665 0.98557 260 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine with aura 0.000171 2.184 0.5812 SH3BP2 rs190648042 4:2833834:A:G 4 2833834 A G 4:2835561 0.985193 1207 stop_lost dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyhydramnios 0.000304 2.6532 0.7345 Idiopathic gout 0.0006327 110.279 32.272 ADD1 rs4961 4:2904980:G:T 4 2904980 G T 4:2906707 0.999932 55960 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Wegener granulomatosis 0.00142 0.4503 0.1411 Phakomatoses, not elsewhere classified 0.0004586 1.009 0.288 DOK7 rs62272670 4:3473439:C:T 4 3473439 C T 4:3475166 0.992838 0.00194617 0 715 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Problems related to social environment 2.03e-05 6.5094 1.5275 DOK7 rs59932476 4:3489777:G:A 4 3489777 G A 4:3491504 0.994878 6871 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Hyperkinetic disorders (more controls excluded) 0.000403 0.8817 0.2492 Urethral stricture 0.0002844 7.118 1.961 DOK7 rs6811423 4:3492873:A:G 4 3492873 A G 4:3494600 0.996362 0.375421 52094 85831 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postmenopausal atrophic vaginitsi 9.28e-05 0.2808 0.0718 Diabetic retinopathy 0.0002146 -0.106 0.029 DOK7 rs149905649 4:3493190:C:T 4 3493190 C T 4:3494917 0.827079 68 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes, opthalmic co-morbidities 0.000454 15.2125 4.3381 DOK7 rs16844464 4:3493229:C:T 4 3493229 C T 4:3494956 0.997972 7139 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other assisted single delivery 0.000431 1.7887 0.5081 Disorders of psychological developtment 0.0006277 4.615 1.35 DOK7 rs16844470 4:3493337:C:T 4 3493337 C T 4:3495064 0.835431 0.000136096 0 50 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma and opportunit respiratory infection 4.65e-05 25.6268 6.2927 DOK7 rs9684786 4:3493368:G:A 4 3493368 G A 4:3495095 0.996027 0.14712 8124 45926 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain associated with micturition 6.55e-05 0.2375 0.0595 Deficiency of other B group vitamins 0.0002861 0.947 0.261 DOK7 rs77513082 4:3493455:C:T 4 3493455 C T 4:3495182 0.991728 4997 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenia, limb-girdle, familial;Pena-Shokeir syndrome type I;not specified Inflammatory disorders of breast 0.000557 0.9506 0.2754 Unspecified lump in breast 0.001897 3.701 1.192 ZBTB49 rs114306264 4:4303022:G:A 4 4303022 G A 4:4304749 0.969838 0.00123575 2 452 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 5.81e-05 2.7564 0.6856 MSX1 rs36059701 4:4860018:C:G 4 4860018 C G 4:4861745 0.982101 59865 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Suppurative and unspecified otitis media 0.000581 -0.0848 0.0247 Abnormal findings in secretions and smears from cervix uteri vagina vulva 2.953e-05 0.132 0.031 EVC2 rs200609501 4:5568570:C:T 4 5568570 C T 4:5570297 0.993032 2775 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of contact with venomous animals 0.000604 1.6056 0.4681 Pilonidal cyst 0.00339 4.974 1.698 EVC2 rs140951974 4:5618536:G:A 4 5618536 G A 4:5620263 0.984895 6231 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carpal tunnel syndrome 0.00049 0.2248 0.0645 Trigeminal neuralgia 0.004915 4.955 1.762 EVC2 rs143491078 4:5622643:C:G 4 5622643 C G 4:5624370 0.957944 434 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of skin of scalp and neck (other cancers excluded from controls) 0.000593 11.6429 3.3899 EVC2 rs730469 4:5622943:T:C 4 5622943 T C 4:5624670 0.993167 80220 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gout, unspecified 0.00102 -0.1344 0.0409 Other dorsopathies, not elsewhere classified 0.0003366 -0.039 0.011 EVC2 rs145693546 4:5628622:C:T 4 5628622 C T 4:5630349 0.872224 142 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ingrowing nail 0.000695 7.2613 2.141 EVC2 rs145277501 4:5640522:C:T 4 5640522 C T 4:5642249 0.951947 280 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma mixed form (mode) 0.000737 4.9724 1.473 EVC2 rs141287105 4:5640620:G:C 4 5640620 G C 4:5642347 0.976685 0.00407743 8 1490 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chondroectodermal dysplasia;Chondroectodermal dysplasia;Curry-Hall syndrome;Ellis-van Creveld Syndrome;not provided;not specified Type 2 diabetes with ketoacidosis 1.16e-05 3.9922 0.9106 Complications following infusion, transfusion and therapeutic injection 0.0006929 116.326 34.29 EVC2 rs4689278 4:5689175:T:C 4 5689175 T C 4:5690902 0.985527 64002 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pneumothorax 0.000319 0.2483 0.069 Dependence on enabling machines and devices, not elsewhere classified 0.00134 0.779 0.243 EVC2 rs769799880 4:5697649:T:C 4 5697649 T C 4:5699376 0.975307 189 LC both Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Contact with and exposure to communicable diseases 0.00156 4.0422 1.2777 EVC2 rs6820907 4:5708462:G:A 4 5708462 G A 4:5710189 0.993237 39151 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Long labour 0.000604 0.1571 0.0458 Maternal care for other conditions predominantly related to pregnancy 3.438e-05 0.371 0.09 EVC rs2291157 4:5719294:A:C 4 5719294 A C 4:5721021 0.970398 18526 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Curry-Hall syndrome;Ellis-van Creveld Syndrome;not specified Disorders of the thyroid gland 0.000415 0.0868 0.0246 Panniculitis, unspecified 0.00126 3.87 1.2 EVC rs41269547 4:5719357:A:G 4 5719357 A G 4:5721084 0.994547 3907 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chondroectodermal dysplasia;Curry-Hall syndrome;Curry-Hall syndrome;Ellis-van Creveld Syndrome;not provided;not specified Diplopia 0.00114 0.6297 0.1935 Dislocation, sprain and strain of joints and ligaments of elbow 0.0009562 10.85 3.285 EVC rs16837598 4:5729347:C:T 4 5729347 C T 4:5731074 0.972606 0.000500833 0 184 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of rectosigmoid junction (other cancers excluded from controls) 4.22e-05 27.4649 6.7069 EVC rs146729456 4:5731509:C:G 4 5731509 C G 4:5733236 0.954138 0.00460276 16 1675 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Curry-Hall syndrome;Ellis-van Creveld Syndrome;not specified Cardiomyopathy 9.41e-05 0.9383 0.2403 Parkinson's disease 0.001087 9.268 2.837 EVC rs41269549 4:5731590:G:A 4 5731590 G A 4:5733317 0.978317 574 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other nutritional anaemias 0.000109 11.6642 3.0145 EVC rs6414624 4:5741785:T:C 4 5741785 T C 4:5743512 0.889141 43422 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Rectosigmoid junction 0.00117 -0.3617 0.1115 Personal history of risk-factors, not elsewhere classified 0.0004981 -0.373 0.107 EVC rs28483498 4:5752852:C:T 4 5752852 C T 4:5754579 0.998394 38330 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alcohol abuse counselling and surveillance 0.00183 0.6621 0.2124 Toxic effect of carbon monoxide 0.0001148 1.545 0.401 EVC rs60582583 4:5753789:T:A 4 5753789 T A 4:5755516 0.951371 0.00448572 14 1634 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chondroectodermal dysplasia;Curry-Hall syndrome;Curry-Hall syndrome;Ellis-van Creveld Syndrome;not specified Disorders of vestibular function (Vertigo) 1.31e-05 0.6687 0.1534 Ulcerative ileocolitis 7.625e-05 27.814 7.031 EVC rs202150959 4:5753790:G:A 4 5753790 G A 4:5755517 0.975631 128 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hirsutism 0.00088 23.4008 7.0352 EVC rs116952023 4:5753802:A:C 4 5753802 A C 4:5755529 0.930695 1809 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Curry-Hall syndrome;Ellis-van Creveld Syndrome Visual field defects 0.00249 1.1152 0.3687 Emotional disorders starting during childhood or adolecense 0.0009498 5.709 1.727 EVC rs2302075 4:5753815:C:A 4 5753815 C A 4:5755542 0.999903 65723 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Systemic sclerosis 0.000138 0.4272 0.1121 Systemic sclerosis 2.874e-05 0.284 0.068 EVC rs141859946 4:5753838:G:A 4 5753838 G A 4:5755565 0.979463 490 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Haemorrhage, not elsewhere classified 0.000421 5.262 1.4922 EVC rs143971158 4:5756327:G:A 4 5756327 G A 4:5758054 0.989041 1713 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Curry-Hall syndrome;Ellis-van Creveld Syndrome;not provided;not specified Symptoms and signs involving the nervous and musculoskeletal systems 0.00022 0.4997 0.1352 Degeneration of nervous system due to alcohol 0.001099 74.108 22.705 EVC rs1383180 4:5783715:G:A 4 5783715 G A 4:5785442 0.995691 81960 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the thorax 0.000737 0.0709 0.021 Postpartum haemorrhage 0.0006084 0.111 0.032 EVC rs41269557 4:5793657:G:A 4 5793657 G A 4:5795384 0.865724 399 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Contusion of ankle 0.000706 5.6129 1.6571 EVC rs2279252 4:5798767:G:A 4 5798767 G A 4:5800494 0.975261 9563 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chondroectodermal dysplasia;Curry-Hall syndrome;Curry-Hall syndrome;Ellis-van Creveld Syndrome;not specified Haemorrhage from respiratory passages 0.000271 -0.2639 0.0725 Diverticular disease of intestine 0.0001608 0.796 0.211 WFS1 rs41264699 4:6291313:A:C 4 6291313 A C 4:6293040 0.979198 0.00127114 0 467 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dermatitis herpetiformis 7.77e-05 8.4949 2.1498 WFS1 rs1801212 4:6300792:G:A 4 6300792 G A 4:6302519 0.99874 0.670354 165366 80914 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diabetes, wide definition 1.28e-15 0.0957 0.012 Diabetes mellitus 7.257e-14 0.056 0.008 WFS1 rs71524353 4:6300948:G:A 4 6300948 G A 4:6302675 0.986253 829 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Encephalitis 0.00054 3.653 1.0557 WFS1 rs1801208 4:6301162:G:A 4 6301162 G A 4:6302889 0.992733 26079 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders;not provided;not specified Dissocial personality disorder 0.000355 0.6029 0.1688 Viral infections of the central nervous system 0.001134 0.872 0.268 WFS1 rs55814513 4:6301470:G:A 4 6301470 G A 4:6303197 0.976133 0.00758599 38 2749 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders;not provided;not specified Dislocation, sprain and strain of joints and ligaments at ankle and foot level 2.04e-05 0.5427 0.1274 Prolonged pregnancy 0.0001269 8.39 2.189 WFS1 rs734312 4:6301627:G:A 4 6301627 G A 4:6303354 0.99972 0.497561 90926 91872 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diabetes, wide definition 1.96e-12 0.0793 0.0113 Diabetes, varying definitions 1.932e-09 0.052 0.009 WFS1 rs1805070 4:6301953:A:G 4 6301953 A G 4:6303680 0.988479 7306 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter WFS1-Related Spectrum Disorders;not provided;not specified Symptoms and signs involving the nervous and musculoskeletal systems 0.00207 0.1956 0.0635 Other ill-defined and unspecified causes of mortality 0.0009872 10.714 3.252 WFS1 rs56002719 4:6302122:A:T 4 6302122 A T 4:6303849 0.989548 3737 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Monogenic diabetes;WFS1-Related Spectrum Disorders;not provided;not specified Amenorrhoea 0.000121 0.9749 0.2536 Pregnancy with abortive outcome 0.0003101 1.699 0.471 WFS1 rs71578980 4:6302151:G:A 4 6302151 G A 4:6303878 0.853616 145 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lichen simplex chronicus and prurigo 0.000857 6.7952 2.0384 WFS1 rs373310972 4:6302180:G:GGAC 4 6302180 G GGAC 4:6303907 0.923219 346 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Non-follicular lymphoma 0.000392 3.6339 1.025 WFS1 rs35932623 4:6302247:C:T 4 6302247 C T 4:6303974 0.958162 744 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Monogenic diabetes;Nonsyndromic Hearing Loss, Dominant;WFS1-Related Spectrum Disorders;not provided;not specified Cough 0.000584 0.7208 0.2096 Other diseases of pleura 0.0002703 25.833 7.093 WFS1 rs71532874 4:6302406:G:A 4 6302406 G A 4:6304133 0.988563 5261 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monogenic diabetes;Nonsyndromic Hearing Loss, Dominant;not provided;not specified Nonspesific lymphadenitis 0.000341 -0.7908 0.2208 Other specified cerebrovascular diseases, other cerebrovascular disorders in diseases classified elsewhere 0.0002173 7.746 2.095 KIAA0232 rs149493190 4:6880853:C:T 4 6880853 C T 4:6882580 0.90854 338 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of lower leg 0.000138 2.044 0.5364 ACOX3 rs13434465 4:8389221:C:T 4 8389221 C T 4:8390948 0.998746 8645 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria not provided Pain and other conditions associated with female genital organs and menstrual cycle 0.000836 0.3187 0.0954 Unspecified abortion 0.0001259 5.447 1.421 ACOX3 rs73211315 4:8414859:T:G 4 8414859 T G 4:8416586 0.991077 886 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria not provided Personality disorders 0.000589 0.8565 0.2492 Achalasia of cardia 0.0006841 118.3 34.836 ACOX3 rs12513296 4:8416421:T:G 4 8416421 T G 4:8418148 0.991714 887 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria not provided Personality disorders 0.00039 0.8821 0.2487 Achalasia of cardia 0.0006839 118.423 34.872 CPZ rs139418095 4:8606067:A:G 4 8606067 A G 4:8607794 0.985993 3940 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other necrotizing vasculopathies (FG) 0.00176 0.9244 0.2955 Systemic connective tissue disorders 1.009e-05 3.31 0.75 HMX1 rs61745347 4:8871251:C:T 4 8871251 C T 4:8872977 0.909357 24371 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Single delivery by forceps and vacuum extractor 0.000576 -0.2094 0.0608 Fracture of lumbar spine and pelvis 0.0001339 0.676 0.177 DRD5 rs148402761 4:9782291:C:T 4 9782291 C T 4:9783915 0.901505 418 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral pneumonia (unknown virus, not influenza) 0.000798 4.8492 1.446 SLC2A9 rs2280205 4:9908299:G:A 4 9908299 G A 4:9909923 0.999192 0.54363 108728 90995 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gout, unspecified 3.41e-05 0.1586 0.0383 Injuries involving multiple body regions 0.0002269 -0.229 0.062 SLC2A9 rs145688560 4:9920488:C:T 4 9920488 C T 4:9922112 0.995317 0.0082583 26 3008 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial renal hypouricemia Atopic dermatitis 7.92e-05 -0.4537 0.115 Other diseases of oesophagus 0.001451 8.444 2.652 SLC2A9 rs3733591 4:9920506:C:T 4 9920506 C T 4:9922130 0.996348 0.245626 22260 67980 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Valvular operations 2.02e-05 -0.0511 0.012 Benign neoplasm: Cranial nerves 0.0003225 0.476 0.132 SLC2A9 rs16890979 4:9920543:C:T 4 9920543 C T 4:9922167 0.999171 0.174763 11710 52496 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gout, FINNGEN 2.6e-20 -0.3746 0.0406 Gout 4.502e-07 -0.335 0.066 SLC2A9 rs73225891 4:9920546:C:G 4 9920546 C G 4:9922170 0.978776 17563 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial renal hypouricemia Impotence 0.000731 0.5408 0.1601 Other disorders of eyelid 0.0001947 0.604 0.162 SLC2A9 rs112404957 4:9920563:G:A 4 9920563 G A 4:9922187 0.965805 5723 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial renal hypouricemia Other strabismus 0.000741 0.3701 0.1097 Retinal vascular occlusion 1.052e-05 7.214 1.637 SLC2A9 rs2276961 4:10021357:C:T 4 10021357 C T 4:10022981 0.997243 0.5371 106128 91196 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gout, unspecified 5.2e-14 0.2894 0.0385 Gout, unspecified 2.005e-10 0.191 0.03 WDR1 rs200525851 4:10103943:A:G 4 10103943 A G 4:10105567 0.998441 4198 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension, essential 0.000237 -0.1828 0.0497 Malignant neoplasm of bladder 5.61e-05 11.332 2.813 CLNK rs61759824 4:10584947:G:A 4 10584947 G A 4:10586571 0.987257 13178 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other infective otitis externa 0.00243 0.4368 0.1441 0.001184 0.342 0.106 NKX3-2 rs202191746 4:13544092:G:C 4 13544092 G C 4:13545716 0.954575 0.00812765 24 2962 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other sleepdisorders 7.2e-05 1.0119 0.2549 Charcot foot 0.0009299 84.822 25.619 NKX3-2 rs200167000 4:13544180:T:A 4 13544180 T A 4:13545804 0.975885 2744 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chromosomal abnormalities, not elsewhere classified 0.00035 2.8868 0.8074 Benign neoplasm: Parotid gland (other cancers excluded from controls) 0.0008437 11.011 3.299 NKX3-2 rs202195290 4:13544225:C:G 4 13544225 C G 4:13545849 0.95603 3379 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectum/anal canal icd-9 0.00106 2.6605 0.8128 Hypothyroidism, drug reimbursement 0.001211 5.672 1.753 CC2D2A rs1861050 4:15480736:C:T 4 15480736 C T 4:15482360 0.999393 19120 pLoF recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Meckel-Gruber syndrome;not specified Diseases of arteries, arterioles and capillaries 0.00025 0.1264 0.0345 Ulcer of lower limb, not elsewhere classified 9.477e-05 1.302 0.334 CC2D2A rs186264635 4:15502836:T:G 4 15502836 T G 4:15504459 0.986469 237 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Other/unspecified rheumatoid arthritis 0.000319 3.3406 0.9281 Type 2 diabetes without complications 0.0005739 4.4 1.278 CC2D2A rs1159391633 4:15511381:GGAA:G 4 15511381 GGAA G 4:15513004 0.99382 22493 inframe_indel recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of thorax 0.000141 0.8938 0.2348 Outcome of delivery 9.532e-05 0.491 0.126 CC2D2A rs16892095 4:15516734:A:C 4 15516734 A C 4:15518357 0.999657 10392 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Meckel-Gruber syndrome;not specified Symptoms and signs involving the urinary system 0.000306 -0.149 0.0413 Medication related adverse effects (Asthma/COPD) 0.00111 0.375 0.115 CC2D2A rs144439937 4:15533245:A:G 4 15533245 A G 4:15534868 0.996905 2689 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Meckel-Gruber syndrome;not provided;not specified Tubulo-interstitial nephritis, not spesified as acute or chronic 0.00115 0.9791 0.3013 Hernia of abodminal wall 0.0003981 3.682 1.04 CC2D2A rs116358011 4:15537074:C:T 4 15537074 C T 4:15538697 0.994328 0.00304583 0 1119 LC recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Other functional intestinal disroders 7.25e-05 0.7324 0.1846 CC2D2A rs16892134 4:15538112:G:C 4 15538112 G C 4:15539735 0.922699 99 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Coronary artery bypass grafting 0.000951 2.9362 0.8885 CC2D2A rs369476930 4:15540889:G:A 4 15540889 G A 4:15542512 0.997442 244 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease (undefined) 1e-04 20.6361 5.3047 CC2D2A rs200764366 4:15550968:G:A 4 15550968 G A 4:15552591 0.998809 0.000890067 0 327 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified dermatitis 5.6e-05 1.3945 0.3461 CC2D2A rs143947747 4:15589567:C:G 4 15589567 C G 4:15591190 0.999505 7284 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Joubert syndrome;Meckel-Gruber syndrome Chorioretinal inflammation 0.000257 1.1799 0.3228 Schizophrenia or delusion 0.0006344 1.539 0.451 PROM1 rs202029748 4:15984352:T:C 4 15984352 T C 4:15985975 0.960092 212 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Follow-up examination after treatment for conditions other than malignant neoplasms 0.000851 1.2797 0.3837 PROM1 rs62617075 4:15991277:G:C 4 15991277 G C 4:15992900 0.981205 240 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Plantar fascial fibromatosis 0.00131 3.4248 1.0656 PROM1 rs201692179 4:16000497:C:T 4 16000497 C T 4:16002120 0.998248 440 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders resulting from impaired renal tubular function 0.000408 5.7558 1.6282 PROM1 rs189108830 4:16075852:A:C 4 16075852 A C 4:16077475 0.971459 3041 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Dominant;Retinal Macular Dystrophy;Retinitis Pigmentosa, Recessive;Stargardt Disease, Dominant;not specified Fracture of skull and facial bones 0.000127 0.6242 0.1629 Malignant neoplasm of eye, brain and central nervous system 0.0006611 12.534 3.681 TAPT1 rs16893137 4:16163447:T:C 4 16163447 T C 4:16165070 0.999393 3907 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diabetic retinopathy 0.000379 0.8978 0.2526 Attention to artificial openings 7.078e-05 35.989 9.057 TAPT1 rs187246858 4:16202565:T:G 4 16202565 T G 4:16204188 0.996069 8086 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary heart disease, diseases of pulmonary circulation 0.000216 0.3207 0.0867 Anomalies of pupillary function 0.000882 11.485 3.454 SLIT2 rs115629108 4:20617111:G:A 4 20617111 G A 4:20618734 0.961096 1498 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders involving the immune mechanism, not elsewhere classified 0.000434 2.7423 0.7793 SLIT2 rs143417693 4:20617555:C:T 4 20617555 C T 4:20619178 0.944212 488 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of vulva and perineum 0.00101 2.3876 0.7262 SLIT2 rs200768792 4:20617569:C:A 4 20617569 C A 4:20619192 0.985033 0.00320098 6 1170 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of foot, except ankle 6.02e-05 1.0604 0.2643 7.403e-05 27.662 6.98 ADGRA3 rs140656046 4:22388009:C:T 4 22388009 C T 4:22389632 0.974493 546 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy, other and unspecified 0.00104 2.2217 0.6775 ADGRA3 rs117922332 4:22392616:T:G 4 22392616 T G 4:22394239 0.977584 8377 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Male infertility 0.000333 0.812 0.2263 Hard cardiovascular diseases 0.0003199 0.699 0.194 ADGRA3 rs2061699 4:22442704:G:A 4 22442704 G A 4:22444327 0.950414 233 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine 0.000438 1.4949 0.4251 PPARGC1A rs144103777 4:23813087:C:T 4 23813087 C T 4:23814710 0.99663 3435 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical observation and evaluation for suspected diseases and conditions 0.000277 -0.2063 0.0567 Immune disease comorbidities 0.0007361 1.887 0.559 SOD3 rs1799895 4:24800212:C:G 4 24800212 C G 4:24801834 0.975585 6001 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Superoxide dismutase, elevated extracellular Supplementary factors related to causes of morbidity and mortality classified elsewhere 0.000146 1.1788 0.3104 0.0001706 -0.8 0.213 SEPSECS rs2302566 4:25124081:C:G 4 25124081 C G 4:25125703 0.993035 0.0442148 790 15454 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pontoneocerebellar hypoplasia;not specified Other complications of surgical and medical care, not elsewhere classified 8.59e-05 0.4984 0.1269 Vasomotor rhinitis (mode) 0.0001681 1.881 0.5 SEPSECS rs200041461 4:25155152:C:T 4 25155152 C T 4:25156774 0.975111 0.00139362 0 512 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Acute appendicitis, no complications 2.25e-05 0.9294 0.2193 PI4K2B rs143048917 4:25259141:G:T 4 25259141 G T 4:25260763 0.999403 292 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Superficial injury of head 0.000237 2.4735 0.673 SLC34A2 rs79937695 4:25670747:A:G 4 25670747 A G 4:25672369 0.990423 0.00441223 16 1605 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy, other and unspecified 2.55e-05 1.6494 0.3918 Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk 0.0004995 14.037 4.032 SLC34A2 rs76404281 4:25674321:G:C 4 25674321 G C 4:25675943 0.872316 383 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertensive Renal Disease 0.00062 5.3446 1.5615 SLC34A2 rs6448389 4:25676577:A:G 4 25676577 A G 4:25678199 0.918955 30723 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of anus and rectum 0.000687 0.1437 0.0423 Other diseases of anus and rectum 0.0007861 0.077 0.023 SEL1L3 rs2286866 4:25757712:C:G 4 25757712 C G 4:25759334 0.946121 2476 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Systemic lupus erythematosus 0.000244 1.8 0.4907 0.0003113 8.491 2.355 PCDH7 rs36037995 4:30723650:C:T 4 30723650 C T 4:30725272 0.942801 237 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hernia of abodminal wall, postoperative 0.00039 3.4357 0.9686 NWD2 rs142523381 4:37443522:A:G 4 37443522 A G 4:37445144 0.994484 866 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Noise effects on inner ear 0.000698 2.5288 0.7459 Other problems related to primary support group, including family circumstances 9.835e-05 21.721 5.577 TBC1D1 rs112261209 4:38020598:G:A 4 38020598 G A 4:38022219 0.987645 0.00547105 24 1986 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical abortion 4.65e-05 0.509 0.125 Mood disorders 1.354e-06 2.723 0.564 TLR1 rs5743618 4:38797027:C:A 4 38797027 C A 4:38798648 0.993485 0.155585 9554 47606 missense_variant unknown protective protective no assertion criteria provided no_Criteria Asthma (mode) 5.21e-06 -0.0846 0.0186 Rash and other nonspecific skin eruption 0.0003014 0.355 0.098 TLR1 rs4833095 4:38798089:T:C 4 38798089 T C 4:38799710 0.996505 0.132146 6744 41805 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Pollen allergy 1.57e-06 -0.2202 0.0458 Rash and other nonspecific skin eruption 0.0002304 0.434 0.118 TLR1 rs145135062 4:38798661:T:C 4 38798661 T C 4:38800282 0.979196 0.000990778 0 364 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Infections of genitourinary tract in pregnancy 7.44e-05 5.0581 1.2768 TLR1 rs76600635 4:38798702:A:G 4 38798702 A G 4:38800323 0.9912 147 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myalgia 0.000753 3.6154 1.0729 Conjunctivitis (acute, non atopic) 0.00864 13.178 5.018 WDR19 rs75964850 4:39214620:G:A 4 39214620 G A 4:39216240 0.99772 9154 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia;Jeune thoracic dystrophy;Senior-Loken syndrome 8;not specified Injury of muscle and tendon at lower leg level 0.000225 0.4117 0.1116 Other diseases of urinary system 0.0001503 0.593 0.156 WDR19 rs144335584 4:39232258:A:G 4 39232258 A G 4:39233878 0.988988 335 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Encephalitis 0.000405 7.9185 2.239 WDR19 rs187546086 4:39253208:A:C 4 39253208 A C 4:39254828 0.987712 509 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Asphyxiating thoracic dystrophy 5;Cranioectodermal dysplasia;Jeune thoracic dystrophy;Senior-Loken syndrome 8;not provided;not specified Other disorders of penis 0.00118 2.2732 0.701 Asthma (mode) 0.0001636 4.134 1.097 WDR19 rs199678654 4:39255862:A:G 4 39255862 A G 4:39257482 0.973256 193 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Rash and other nonspecific skin eruption 0.000113 4.7752 1.2366 WDR19 rs201597047 4:39274909:C:T 4 39274909 C T 4:39276529 0.993011 2207 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cranioectodermal dysplasia;Jeune thoracic dystrophy;not provided Other diseases of biliary tract 0.00112 1.1938 0.3664 Diseases of spleen 0.0007067 116.389 34.364 KLB rs549659598 4:39447052:CTCT:C 4 39447052 CTCT C 4:39448672 0.918857 131 inframe_indel unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Follow-up examination after treatment for malignant neoplasms 0.00159 3.9654 1.256 KLB rs146152443 4:39448498:A:G 4 39448498 A G 4:39450118 0.983002 2225 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 0.000152 0.9239 0.2439 0.001612 -0.86 0.273 KLB rs143809363 4:39448675:G:A 4 39448675 G A 4:39450295 0.996511 1917 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of head 0.000108 0.5017 0.1296 Torsion of testis 0.0002953 14.562 4.023 UGDH rs775162839 4:39505705:C:T 4 39505705 C T 4:39507325 0.80031 122 missense_variant unknown Pathogenic/Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Hepatic failure, not elsewhere classified 0.000272 13.4069 3.6826 UCHL1 rs5030732 4:41257616:C:A 4 41257616 C A 4:41259633 0.997189 47949 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Voice disturbances 0.000761 0.122 0.0362 Other and unspecified injuries of head 0.000985 0.608 0.185 GRXCR1 rs78136490 4:42893291:G:A 4 42893291 G A 4:42895308 0.999983 44025 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications following infusion, transfusion and therapeutic injection 0.000309 0.6552 0.1816 Other abnormal findings in urine 8.033e-05 1.632 0.414 GRXCR1 rs57655409 4:42893406:C:T 4 42893406 C T 4:42895423 0.999238 12815 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Disorders related to short gestation and low birth weight, not elsewhere classified 0.00111 1.0079 0.3091 Unspecified jaundice 0.0005071 2.717 0.781 GRXCR1 rs113203706 4:42893538:G:T 4 42893538 G T 4:42895555 0.973981 1781 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Symptoms and signs involving the skin and subcutaneous tissue 0.000305 0.4228 0.1171 Patellar tendinitis 0.0005123 137.982 39.716 GUF1 rs112026924 4:44691693:A:G 4 44691693 A G 4:44693710 0.98233 0.00102616 8 369 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the thorax 7.11e-05 1.3666 0.344 Benign neoplasm: Skin of lip 0.0006524 122.22 35.854 GABRB1 rs41311286 4:47425856:C:G 4 47425856 C G 4:47427873 0.95828 0.00106971 0 393 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Total colectomy operation 1.06e-05 7.334 1.6649 CORIN rs61758484 4:47837922:C:T 4 47837922 C T 4:47839939 0.99801 3421 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma/COPD (KELA code 203) 0.000707 -0.2309 0.0682 Other demyelinating diseases of the central nervous system 0.0001408 26.391 6.933 CNGA1 rs200583020 4:47937170:A:C 4 47937170 A C 4:47939187 0.998012 350 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes 0.00153 0.5734 0.1809 Other diseases of biliary tract 7.576e-06 26.827 5.992 CNGA1 rs62625014 4:47937535:G:A 4 47937535 G A 4:47939552 0.988442 297 missense_variant unknown Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diabetes, wide definition 0.000464 -0.7318 0.209 CNGA1 rs539600817 4:47943269:C:T 4 47943269 C T 4:47945286 0.975685 0.00449661 12 1640 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Recessive Ingrowing nail 7.58e-05 2.0301 0.513 Von Willebrand disease 0.0004776 161.562 46.253 CNGA1 rs28642966 4:47943278:C:T 4 47943278 C T 4:47945295 0.997628 51617 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute peritonitis 0.000658 -0.2516 0.0739 Lung diseases due to external agents 0.0001192 0.318 0.083 CNGA1 rs76537883 4:47952607:C:T 4 47952607 C T 4:47954624 0.981819 3699 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Recessive Nerve, nerve root and plexus disorders 0.000113 0.2281 0.0591 Other anxiety disorders 0.0005585 3.023 0.876 FRYL rs145522900 4:48581473:C:T 4 48581473 C T 4:48583490 0.96663 1202 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behavioural disorders (more controls excluded) 0.000334 4.2896 1.1957 Iridocyclitis in diseases classified elsewhere 0.000504 153.425 44.105 CWH43 rs538616012 4:49061875:CA:C 4 49061875 CA C 4:49063892 0.882078 988 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizophrenia or delusion (more controls excluded) 0.000455 1.0109 0.2883 Osteomyelitis 1.46e-05 69.363 16.002 SGCB rs150395645 4:52023971:C:T 4 52023971 C T 4:52890137 0.962513 249 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specific arthropathies 0.00191 7.7698 2.5032 SPATA18 rs139687172 4:52076820:G:A 4 52076820 G A 4:52942986 0.985774 1862 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemmorrhoids and perianal venous thrombosis 0.000292 0.7034 0.1942 Benign neoplasm: Other and unspecified parts of small intestine (other cancers excluded from controls) 0.0007479 106.747 31.663 SPATA18 rs141695566 4:52076895:A:G 4 52076895 A G 4:52943061 0.98491 1007 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified diabetes 0.00166 0.8804 0.2799 PDGFRA rs36035373 4:54261281:G:A 4 54261281 G A 4:55127448 0.990672 4732 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gastrointestinal stroma tumor;Hereditary cancer-predisposing syndrome;Idiopathic hypereosinophilic syndrome;not provided;not specified Gestational diabetes (for exclusion) 0.00121 0.3335 0.1031 Sarcoidosis 0.000165 8.483 2.252 PDGFRA rs149951350 4:54263898:C:G 4 54263898 C G 4:55130065 0.991609 560 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Haemangioma, any site (other cancers excluded from controls) 0.000115 3.093 0.802 PDGFRA rs139913632 4:54264951:C:T 4 54264951 C T 4:55131118 0.995636 1026 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gastrointestinal stroma tumor;Idiopathic hypereosinophilic syndrome;not provided;not specified Coronary angiopasty 0.000594 0.6862 0.1998 0 2.904 0 PDGFRA rs35597368 4:54273604:T:C 4 54273604 T C 4:55139771 0.99949 0.118738 5288 38335 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coxarthrosis, primary, with hip surgery 4.77e-05 -0.1333 0.0328 Other disorders involving the immune mechanism, not elsewhere classified 0.0001964 1.083 0.291 PDGFRA rs141047712 4:54280450:G:A 4 54280450 G A 4:55146617 0.979633 607 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Any dementia 0.000647 0.9761 0.2861 KIT rs756286159 4:54707217:A:G 4 54707217 A G 4:55573383 0.808943 131 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Nonhereditary hypogammaglobulinemia 0.000263 25.1488 6.8907 KIT rs3822214 4:54727298:A:C 4 54727298 A C 4:55593464 0.996887 0.0513816 1084 17793 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic myelogenous leukemia;Gastrointestinal stroma tumor;Mastocytosis;Partial albinism;not provided;not specified Unspecified abortion 8.34e-05 0.5236 0.1331 Contusion of toe(s) without damage to nail 1.466e-05 5.03 1.161 KDR rs34038364 4:55102430:G:A 4 55102430 G A 4:55968597 0.974467 4726 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hirschsprung disease 1;not specified Hypokalaemia 0.00122 -0.6656 0.2058 Benign neoplasm: other/unspecified salivary gland 0.0003645 16.961 4.758 KDR rs55716939 4:55105862:C:T 4 55105862 C T 4:55972029 0.962523 242 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of corpus uteri 0.000403 3.8681 1.0933 Chronic mastoiditis 0.0004093 136.636 38.663 KDR rs34231037 4:55106779:A:G 4 55106779 A G 4:55972946 0.993559 0.0362151 512 12793 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hemangioma, capillary infantile;not specified Corns and callosities 5.34e-05 0.541 0.1339 Acute renal failure 0.0008156 1.381 0.412 KDR rs1870377 4:55106807:T:A 4 55106807 T A 4:55972974 0.999374 72607 missense_variant dominant not provided not_provided no assertion provided none Macular pucker 0.000134 0.2035 0.0533 Rosacea 4.679e-05 -0.262 0.064 KDR rs56286620 4:55107765:A:C 4 55107765 A C 4:55973932 0.982869 0.00380252 4 1393 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Lymphoid leukaemia 7.5e-05 2.7191 0.6867 0 2.016 0 KDR rs2305948 4:55113391:C:T 4 55113391 C T 4:55979558 0.960952 0.0893905 3114 29727 missense_variant dominant not provided not_provided no assertion provided none not specified Persons with potential health hazards related to family and personal history and certain conditions influencing health status 4.77e-05 0.0839 0.0206 Episcleritis 0.001356 0.899 0.281 KDR rs139047809 4:55118792:C:G 4 55118792 C G 4:55984959 0.970239 393 missense_variant dominant not provided not_provided no assertion provided none Beningn neoplasm: Meninges, unspecified (other cancers excluded from controls) 0.000132 10.9348 2.8612 CEP135 rs77591659 4:55954246:G:A 4 55954246 G A 4:56820412 0.98014 11765 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Injuries to the wrist and hand 0.00209 -0.1047 0.034 0.000613 0.434 0.127 CEP135 rs76941356 4:55959703:A:C 4 55959703 A C 4:56825869 0.999204 4466 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Colon (other cancers excluded from controls) 0.00116 0.3037 0.0935 Other symptoms and signs involving general sensations and perceptions 0.0009474 10.385 3.142 CEP135 rs1269311613 4:55965812:AAAG:A 4 55965812 AAAG A 4:56831978 0.990155 0.00856588 36 3111 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Specific development disorders of speech and language 9.73e-05 1.3676 0.3509 Carcinoma in situ of skin of lower limb, including hip 0.001519 56.453 17.803 CEP135 rs3214045 4:56008351:A:C 4 56008351 A C 4:56874517 0.997763 73499 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of calcium metabolism 0.000255 0.2587 0.0707 Dermatographic urticaria 7.273e-05 0.304 0.077 CEP135 rs145959811 4:56011950:G:A 4 56011950 G A 4:56878116 0.997806 0.00165493 0 608 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Intestinal malabsorbtion 9.91e-05 4.1297 1.0608 SRP72 rs111673705 4:56467693:C:T 4 56467693 C T 4:57333859 0.979456 603 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glomerular disorders in diseases classified elsewhere 0.000191 2.0388 0.5466 REST rs61748753 4:56910912:G:A 4 56910912 G A 4:57777078 0.999584 576 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Discitis, unspecified 0.00204 7.6519 2.4805 REST rs149829250 4:56911005:C:G 4 56911005 C G 4:57777171 0.992028 0.00621142 28 2254 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of nerves and spinal cord at neck level 9.78e-05 3.2176 0.8259 Torticollis 2.308e-05 60.354 14.258 REST rs61748754 4:56930473:T:C 4 56930473 T C 4:57796639 0.953928 909 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of gallbladder 0.000297 2.7112 0.7493 conjunctival degenerations and deposits 0.002257 41.088 13.453 REST rs145504954 4:56930866:G:A 4 56930866 G A 4:57797032 0.984896 645 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign paroxysmal vertigo 0.00046 1.2088 0.345 REST rs766722655 4:56931051:GGAGCTGTCTCCTCCCATGGAGGTGGTCCAGAAGGAGCCTGTTCAGATA:G 4 56931051 GGAGCTGTCTCCTCCCATGGAGGTGGTCCAGAAGGAGCCTGTTCAGATA G 4:57797217 0.966302 27695 inframe_indel dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Residual foreign body in soft tissue 0.000403 0.4124 0.1166 Aphakia 0.001385 1.826 0.571 REST rs61754065 4:56931064:C:T 4 56931064 C T 4:57797230 0.991071 1316 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for examination and investigation 0.00046 -0.2018 0.0576 Kela-code for behavioural disturbances in mental retardation 0.0003766 196.642 55.299 NOA1 rs201957616 4:56977566:G:T 4 56977566 G T 4:57843732 0.999397 4460 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of cervix uteri 0.00125 0.8777 0.272 Undefined dementia 0.0001876 6.93 1.855 GNRHR rs104893837 4:67740682:C:T 4 67740682 C T 4:68606400 0.996487 2715 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypogonadotropic hypogonadism 7 with or without anosmia;not provided Type 1 diabetes, wide definition 0.000151 0.462 0.1219 Amenorrhoea 2.871e-07 16.081 3.134 GNRHR rs144900788 4:67753900:G:A 4 67753900 G A 4:68619618 0.965849 344 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified injuries of thorax 0.000793 10.7447 3.2025 GNRHR rs104893842 4:67753920:C:T 4 67753920 C T 4:68619638 0.966274 149 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colectomy operation 0.000267 4.3888 1.2041 GNRHR rs104893836 4:67754019:T:C 4 67754019 T C 4:68619737 0.994736 717 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic lymphocytic leukaemia 0.000437 5.6349 1.6024 UGT2B15 rs1902023 4:68670366:A:C 4 68670366 A C 4:69536084 0.991382 90314 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Infective dermatitis 0.000492 -0.1389 0.0399 Pyoderma 0.0008344 -0.251 0.075 UGT2B10 rs61750900 4:68816218:G:T 4 68816218 G T 4:69681936 0.997518 0.0628627 1350 21745 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter nicotine response - Metabolism/PK Pyogenic arthritis 5.6e-05 0.4239 0.1052 Other specific arthropathies 0.0001902 2.658 0.712 UGT2B7 rs61361928 4:69096657:T:C 4 69096657 T C 4:69962375 0.988994 932 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholelithiasis, broad definition with cholecystitis 0.000496 0.4609 0.1323 UGT2B28 rs150261084 4:69280705:G:A 4 69280705 G A 4:70146423 0.924021 241 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other orthopaedic follow-up care 0.000599 4.2816 1.2476 Meniscus derangement 0.0008807 3.331 1.001 UGT2B4 rs181603790 4:69495464:T:C 4 69495464 T C 4:70361182 0.917518 247 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pericarditis 0.000602 7.3787 2.1507 Meniscus derangement 0.0008834 3.33 1.001 UGT2A1 rs146912371 4:69595226:C:A 4 69595226 C A 4:70460944 0.983493 650 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified mononeuropathies of lower limb 0.000611 4.1257 1.2041 UGT2A1 rs111696697 4:69647069:A:T 4 69647069 A T 4:70512787 0.985603 0.0341492 328 12218 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Obesity 9.59e-05 0.2051 0.0526 Hypertensive heart and/or renal disease 2.16e-05 1.399 0.329 UGT2A1 rs113894762 4:69647481:G:A 4 69647481 G A 4:70513199 0.981977 6715 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of unspecified body region 0.00195 0.701 0.2263 Peptic ulcer 0.0002551 20.435 5.588 SMR3B rs552496642 4:70389761:T:TC 4 70389761 T TC 4:71255478 0.968434 5380 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal serum enzyme levels 0.000466 0.4016 0.1148 Postydysenteric arthropathy 7.48e-05 35.233 8.896 AMBN rs146167261 4:70606188:G:A 4 70606188 G A 4:71471905 0.983724 728 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyarthropathies 0.00292 -0.5081 0.1707 Carpal tunnel syndrome 0 7.813 0 ENAM rs143129444 4:70637839:G:T 4 70637839 G T 4:71503556 0.979457 908 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Amelogenesis Imperfecta, Dominant Other inflammation of vagina/vulva 0.000609 2.9943 0.8736 Dorsalgia 0 2.874 0 ENAM rs142747446 4:70642607:A:T 4 70642607 A T 4:71508324 0.90566 419 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified acne 0.000873 11.159 3.3526 ENAM rs587776588 4:70642685:T:TAG 4 70642685 T TAG 4:71508402 0.899934 169 pLoF both Pathogenic/Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria !!!Vapaa-ajan tapaturmat 0.0011 20.6734 6.3329 ENAM rs148712673 4:70642822:G:A 4 70642822 G A 4:71508539 0.991997 0.0156837 100 5662 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Eosinophilia 3.26e-05 2.432 0.5854 Guillain-Barre syndrome 0.0002446 21.216 5.784 ENAM rs2609428 4:70643152:T:C 4 70643152 T C 4:71508869 0.958727 181 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unsepcified mononeuropathies, also in other diseases 0.000367 8.2356 2.3117 ENAM rs7671281 4:70643369:T:C 4 70643369 T C 4:71509086 0.972908 12432 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amelogenesis Imperfecta, Dominant;not specified Other abnormalities of plasma proteins 0.000162 1.5871 0.4208 Other specified and unspecified disorders of eye and adnexa 0.0001241 3.792 0.988 ENAM rs3796704 4:70643714:G:A 4 70643714 G A 4:71509431 0.972867 12527 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amelogenesis Imperfecta, Dominant;not specified Other abnormalities of plasma proteins 0.000183 1.5635 0.4179 Other specified and unspecified disorders of eye and adnexa 0.000127 3.773 0.984 ENAM rs71599965 4:70644746:G:A 4 70644746 G A 4:71510463 0.933564 0.0138709 96 5000 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enthesopathies of lower limb, excluding foot 7.97e-05 0.4776 0.121 Problems related to employment and unemployment 0.0002065 21.896 5.9 UTP3 rs34648105 4:70689790:T:A 4 70689790 T A 4:71555507 0.939116 1816 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of Eustachian tube 0.00032 3.0442 0.846 Other and unspecified injuries of shoulder and upper arm 2.002e-05 69.914 16.394 SLC4A4 rs72650362 4:71472872:A:G 4 71472872 A G 4:72338589 0.950018 303 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic viral hepatitis 0.000148 5.4946 1.4478 SLC4A4 rs35891845 4:71497577:A:T 4 71497577 A T 4:72363294 0.980081 941 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathies 0.000481 0.2802 0.0803 SLC4A4 rs140882617 4:71534257:C:T 4 71534257 C T 4:72399974 0.970818 0.000770303 0 283 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Psychiatric comorbidites (Asthma/COPD) 6.65e-05 0.8586 0.2153 SLC4A4 rs201643562 4:71546392:C:A 4 71546392 C A 4:72412109 0.840905 0.000217753 0 80 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of other and unspecified parts of face 6.88e-06 9.5722 2.1284 SLC4A4 rs1062677 4:71567828:A:C 4 71567828 A C 4:72433545 0.994601 44048 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of breast (other cancers excluded from controls) 0.00042 0.2682 0.0761 0.002008 -0.066 0.021 GC rs4588 4:71752606:G:T 4 71752606 G T 4:72618323 0.999724 61080 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Temporomandibular joint disorders 0.000447 -0.1375 0.0392 Respiratory distress of newborn 4.165e-05 1.216 0.297 GC rs7041 4:71752617:A:C 4 71752617 A C 4:72618334 0.999045 81994 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Nerve, nerve root and plexus disorders 0.00197 0.0386 0.0125 Obesity due to excess calories 0.001817 -0.051 0.016 GC rs41265647 4:71756884:T:C 4 71756884 T C 4:72622601 0.985619 0.00115682 2 423 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis, strict definition 2.96e-05 1.531 0.3666 ADAMTS3 rs150270324 4:72312458:T:C 4 72312458 T C 4:73178175 0.944693 4132 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gestational [pregnancy-induced] hypertension 0.000232 0.6082 0.1652 Malignant neoplasm of corpus uteri 0.001491 8.047 2.533 ALB rs58639526 4:73409484:A:G 4 73409484 A G 4:74275201 0.908798 0.000356571 0 131 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other deformities of toe(s) 7.09e-05 13.5084 3.3997 CXCL6 rs564244632 4:73837092:G:GT 4 73837092 G GT 4:74702809 0.994703 4165 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Background retinopathy and retinal vascular changes 0.00021 1.8546 0.5004 Chrondropathies 0.0006146 5.618 1.64 MTHFD2L rs144442266 4:74199824:G:A 4 74199824 G A 4:75065541 0.990943 544 missense_variant unknown not provided not_provided no assertion provided none Type 2 diabetes with ketoacidosis 0.00038 5.7297 1.6122 PARM1 rs35489484 4:75012704:G:C 4 75012704 G C 4:75937914 0.96685 0.00466265 6 1707 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Single delivery by forceps and vacuum extractor 4.28e-06 1.0808 0.2351 Lumbosacral root disorders, not elsewhere classified 0.0004645 263.176 75.183 C4orf26 rs2306175 4:75564135:C:T 4 75564135 C T 4:76489345 0.998939 67937 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other spirochaetal diseases 0.000346 0.1987 0.0555 Endocrine disorders, other/unspecified 0.0001025 0.576 0.148 C4orf26 rs140756390 4:75564323:T:C 4 75564323 T C 4:76489533 0.953875 2135 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis 0.000458 0.4577 0.1306 Ankylosing spondylitis 0.0001201 22.16 5.762 CXCL10 rs11548618 4:76022794:G:A 4 76022794 G A 4:76943947 0.968528 0.0121125 74 4376 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyneuropathies and other disorders of the peripheral nervous system 3.27e-06 0.6606 0.142 0.0004784 2.083 0.596 SCARB2 rs143655258 4:76179654:T:C 4 76179654 T C 4:77100807 0.988086 4038 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, progressive myoclonic 4, with or without renal failure;Progressive myoclonic epilepsy;Seizures;not provided;not specified Burns and corrosions of multiple and unspecified body regions 0.000385 1.8324 0.5162 0.0008848 -0.736 0.221 SHROOM3 rs344140 4:76739009:G:C 4 76739009 G C 4:77660162 0.995603 0.699623 179744 77289 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter malignant neoplasm of male genital organs 1.09e-05 -0.1085 0.0247 malignant neoplasm of male genital organs 0.0001629 -0.06 0.016 SHROOM3 rs61999292 4:76739146:T:G 4 76739146 T G 4:77660299 0.984732 0.0619944 1504 21272 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Dorsalgia 7.13e-05 -0.0908 0.0229 All influenza (not pneumonia) 0.0001837 0.768 0.205 SHROOM3 rs146652221 4:76739228:G:A 4 76739228 G A 4:77660381 0.986569 343 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal scars and opacities 0.00174 8.0482 2.5702 SHROOM3 rs344141 4:76739578:C:G 4 76739578 C G 4:77660731 0.996913 89975 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Synovial cyst of popliteal space [Baker] 0.000551 0.1806 0.0523 0.001503 -0.24 0.076 SHROOM3 rs114419726 4:76740326:G:A 4 76740326 G A 4:77661479 0.998174 2518 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nontoxic diffuse goitre 0.000451 1.7838 0.5084 Acidosis 0.001407 63.761 19.968 SHROOM3 rs61741104 4:76754772:G:A 4 76754772 G A 4:77675925 0.958852 4088 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Primary angle-closure glaucoma 0.000676 1.1888 0.3497 Medical abortion 7.44e-05 2.358 0.595 SHROOM3 rs141646361 4:76755002:G:A 4 76755002 G A 4:77676155 0.995123 0.00288251 0 1059 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia 2.74e-05 2.4114 0.575 FRAS1 rs4859905 4:78066003:A:G 4 78066003 A G 4:78987157 0.991083 88356 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Poisoning by narcotics and psychodysleptics [hallucinogens] 0.000309 -0.4048 0.1122 0.0001426 0.046 0.012 FRAS1 rs10008489 4:78068562:T:C 4 78068562 T C 4:78989716 0.998802 58941 stop_lost recessive Benign (likely)Benign no assertion criteria provided no_Criteria Dislocation, sprain and strain of joints and ligaments of head 0.000236 -0.3232 0.0879 Vascular dementia (undefined) 0.000154 0.573 0.151 FRAS1 rs17003071 4:78237561:G:C 4 78237561 G C 4:79158715 0.903323 0.000108877 0 40 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertrichosis 7.77e-05 73.4741 18.5942 FRAS1 rs78711748 4:78245324:A:T 4 78245324 A T 4:79166478 0.882852 0.000103433 0 38 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertrichosis 4.56e-05 89.8609 22.0402 FRAS1 rs147709711 4:78252462:C:G 4 78252462 C G 4:79173616 0.970029 2807 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cryptophthalmos syndrome Disorder of thyroid, unspecified 0.0024 2.4883 0.8196 Asthma-related infections 0.0005286 1.134 0.327 FRAS1 rs147332320 4:78255290:G:A 4 78255290 G A 4:79176444 0.996498 1588 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cryptophthalmos syndrome Disorders of porphyrin and bilirubin metabolism 0.000134 5.8018 1.5191 Nonorganic sleeping disorders 0.0003077 17.797 4.932 FRAS1 rs200053639 4:78265062:C:T 4 78265062 C T 4:79186216 0.996527 897 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic conjunctivitis 0.00236 2.9601 0.9736 FRAS1 rs148509395 4:78266922:T:G 4 78266922 T G 4:79188076 0.979821 0.00948588 30 3455 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Horner syndrome 8.02e-05 3.5735 0.9061 Hypothyroidism, drug reimbursement 0.0006865 6.284 1.851 FRAS1 rs186811333 4:78267337:G:A 4 78267337 G A 4:79188491 0.996628 478 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Impingement syndrome of shoulder 0.000602 1.1492 0.335 FRAS1 rs61999335 4:78267430:C:T 4 78267430 C T 4:79188584 0.980025 7180 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cryptophthalmos syndrome Nystagmus and other irregular eye movements 0.00148 1.6764 0.5273 Monoarthritis, not elsewhere classified 0.0005202 6.053 1.744 FRAS1 rs12504081 4:78284545:T:A 4 78284545 T A 4:79205699 0.998056 88586 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinal instabilities 0.00035 -0.2756 0.0771 Mental and behavioural disorders due to opioids 0.0007803 0.223 0.066 FRAS1 rs202043019 4:78318876:C:T 4 78318876 C T 4:79240030 0.993669 231 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Iridocyclitis in diseases classified elsewhere 0.000363 14.5903 4.0923 FRAS1 rs345513 4:78318909:A:G 4 78318909 A G 4:79240063 0.996903 90410 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified local infections of skin and subcutaneous tissue 0.000733 0.167 0.0495 Acute laryngitis and tracheitis 0.0004487 0.113 0.032 FRAS1 rs6835769 4:78363540:C:T 4 78363540 C T 4:79284694 0.99995 88485 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Flat foot [pes planus] (acquired) 0.00161 -0.1504 0.0477 Other benign neoplasms of skin (other cancers excluded from controls) 0.0004249 0.053 0.015 FRAS1 rs17459809 4:78374168:G:A 4 78374168 G A 4:79295322 0.997046 8815 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cryptophthalmos syndrome Ganglion 0.000174 0.3215 0.0856 Other and unspecified vascular occlusions 0.0001623 3.499 0.928 FRAS1 rs114077522 4:78374224:G:A 4 78374224 G A 4:79295378 0.996848 8816 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cryptophthalmos syndrome Ganglion 0.000176 0.3213 0.0856 Other and unspecified vascular occlusions 0.0001625 3.498 0.928 FRAS1 rs12512164 4:78379839:G:A 4 78379839 G A 4:79300993 0.997876 79472 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Viral pneumonia (known virus, not influenza) 0.000176 -0.2711 0.0723 Normal-pressure hydrocephalus 0.0009364 0.382 0.115 FRAS1 rs148663672 4:78421970:C:T 4 78421970 C T 4:79343124 0.978993 758 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other gastritis (incl. Duodenitis) 0.00013 1.2079 0.3156 FRAS1 rs35219594 4:78432433:C:G 4 78432433 C G 4:79353587 0.937986 440 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cryptophthalmos syndrome;not specified Other bursal cyst 0.00241 7.2051 2.3741 Other joint disorders 8.901e-05 2.2 0.561 FRAS1 rs201369510 4:78466217:G:T 4 78466217 G T 4:79387371 0.984005 727 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other gastritis (incl. Duodenitis) 0.000366 1.1324 0.3178 FRAS1 rs61729366 4:78511299:G:A 4 78511299 G A 4:79432453 0.997027 2144 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital diaphragmatic hernia;Cryptophthalmos syndrome;not specified Visual disturbances and blindness 0.000154 -0.4664 0.1233 Pervasive developmental disorders excl. Autism + Asperger 0.0007744 103.496 30.786 FRAS1 rs182196851 4:78511346:C:T 4 78511346 C T 4:79432500 0.976793 9266 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of oesophagus, stomach and duodenum 0.000103 0.1316 0.0339 Other and unspecified glaucoma 0.0001164 5.552 1.441 FRAS1 rs35933858 4:78513531:T:G 4 78513531 T G 4:79434685 0.998853 48469 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrichosis 0.00233 0.4342 0.1426 Chronic sinusitis 0.001353 0.136 0.042 FRAS1 rs931605 4:78522683:A:T 4 78522683 A T 4:79443837 0.99882 48474 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrichosis 0.00233 0.4341 0.1426 Chronic sinusitis 0.001373 0.135 0.042 FRAS1 rs931606 4:78522696:G:A 4 78522696 G A 4:79443850 0.997202 90998 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Specific developmental disorder of motor function 0.00031 0.4152 0.1151 Motor disorders (more controls excluded) 0.0003957 0.384 0.108 FRAS1 rs34670941 4:78526609:T:C 4 78526609 T C 4:79447763 0.993258 45204 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Erectile dysfunction 0.000107 0.2663 0.0688 Nontoxic single thyroid nodule 0.0005358 0.437 0.126 FRAS1 rs199510509 4:78537166:C:T 4 78537166 C T 4:79458320 0.982007 0.000789356 0 290 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cystic kidney disease 1.47e-05 8.8041 2.032 FRAS1 rs61748814 4:78540802:T:C 4 78540802 T C 4:79461956 0.973711 4490 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cryptophthalmos syndrome Labour and delivery complicated by fetal stress [distress] 0.000162 0.4947 0.1311 Maternal care for known or suspected fetal abnormality and damage 0.000156 5.057 1.337 BMP2K rs138262352 4:78912028:C:T 4 78912028 C T 4:79833182 0.806496 56 LC unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other surgical follow-up care 0.000503 29.3931 8.448 ANTXR2 rs12647691 4:79984836:C:G 4 79984836 C G 4:80905990 0.999509 0.733628 197914 71612 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified mental retardation 7.8e-05 0.4948 0.1252 Plantar fascial fibromatosis 5.369e-05 -0.121 0.03 PRDM8 rs755316101 4:80203232:AGCCGCGGCTGCGGCGGCG:A 4 80203232 AGCCGCGGCTGCGGCGGCG A 4:81124386 0.961941 1648 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy, progressive myoclonic, 10 Pleural plaque 0.000247 1.4386 0.3925 Neuromuscular dysfuntion of bladder 4.778e-05 35.257 8.671 FGF5 rs112475347 4:80267067:G:T 4 80267067 G T 4:81188221 0.980273 493 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebrovascular diseases 0.000404 -0.6933 0.196 BMP3 rs61729826 4:81046456:G:C 4 81046456 G C 4:81967610 0.995489 461 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified seropositiverheumatoid arthritis 0.00088 1.305 0.3924 HNRNPDL rs61729823 4:82429566:A:G 4 82429566 A G 4:83350719 0.932184 0.0044204 12 1612 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Excessive vomiting in pregnancy 8.64e-05 1.9843 0.5054 Malaise and fatigue 0.0008955 9.673 2.912 HNRNPDL rs200018272 4:82429567:G:A 4 82429567 G A 4:83350720 0.932184 0.0044204 12 1612 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Excessive vomiting in pregnancy 8.64e-05 1.9843 0.5054 Malaise and fatigue 0.0008955 9.673 2.912 SEC31A rs35579207 4:82844490:G:A 4 82844490 G A 4:83765643 0.955613 334 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pyogenic arthritis 0.000124 3.9443 1.0275 COQ2 rs6818847 4:83284719:C:A 4 83284719 C A 4:84205872 0.993112 0.790078 229334 60931 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of mineral metabolism 1.97e-05 -0.2894 0.0678 Disorders of mineral metabolism 1.056e-05 -0.177 0.04 COQ2 rs112033303 4:83284851:T:A 4 83284851 T A 4:84206004 0.954983 9563 pLoF both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other disorders of choroid 0.000889 1.3168 0.3962 Portal vein thrombosis 0.0001736 15.356 4.09 HELQ rs138939487 4:83455588:G:A 4 83455588 G A 4:84376741 0.98031 5903 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psoriasis (vulgaris), strict definition 0.00026 1.4671 0.4017 0.001237 2.595 0.803 HELQ rs141700135 4:83455641:T:C 4 83455641 T C 4:84376794 0.991867 3648 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathies in other diseases classified elsewhere 0.000244 1.4951 0.4076 Preterm labour and delivery 9.158e-05 3.682 0.941 FAM175A rs13125836 4:83462582:C:T 4 83462582 C T 4:84383735 0.989929 27953 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;not specified Other and unspecified injuries of abdomen, lower back and pelvis 0.000269 0.8953 0.2457 Other and unspecified injuries of abdomen, lower back and pelvis 0.0001133 2.964 0.768 FAM175A rs114513239 4:83463535:C:T 4 83463535 C T 4:84384688 0.935602 160 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Paranoid personality disorder 0.000213 15.6959 4.2386 FAM175A rs150207999 4:83470257:G:A 4 83470257 G A 4:84391410 0.927445 813 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Endometriosis of rectovaginal septum and vagina 0.00152 1.8158 0.5725 PTPN13 rs61757789 4:86722325:G:C 4 86722325 G C 4:87643478 0.995163 2040 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Peripheral nerves and autonomic nervous system (other cancers excluded from controls) 0.000822 3.2657 0.9762 Acute epiglottitis 0.001307 68.006 21.157 PTPN13 rs61750815 4:86745072:A:G 4 86745072 A G 4:87666225 0.951273 0.0019244 4 703 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Agranulocytosis 4.65e-05 2.5717 0.6315 Hypertensive Renal Disease 0.001596 48.078 15.23 PTPN13 rs115231754 4:86751082:G:T 4 86751082 G T 4:87672235 0.987932 0.0250716 256 8955 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adult-onset Still disease 5.7e-05 0.378 0.0939 Other papulosquamous disorders 0.0009476 11.084 3.353 PTPN13 rs61757792 4:86753030:G:A 4 86753030 G A 4:87674183 0.977065 0.00191623 0 704 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of skin appendages 6.01e-05 0.9146 0.2279 AFF1 rs148578175 4:87114964:G:A 4 87114964 G A 4:88036116 0.957122 367 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of amniotic fluid and membranes 0.000439 2.7373 0.7787 DSPP rs36094464 4:87612388:A:T 4 87612388 A T 4:88533540 0.998926 45348 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lack of expected normal physiological development 0.000318 -0.4764 0.1323 0.0007592 0.725 0.215 DSPP rs3750025 4:87612913:G:A 4 87612913 G A 4:88534065 0.991855 0.02312 242 8252 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Right bundle-branch block 1.92e-05 1.2515 0.2928 Benign neoplasm: Parotid gland 0.0007021 3.419 1.009 DSPP rs61731011 4:87613246:C:T 4 87613246 C T 4:88534398 0.990044 1080 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Post-traumatic stress disorder 0.000336 1.9431 0.5419 DSPP rs912237694 4:87615164:TAGC:T 4 87615164 TAGC T 4:88536316 0.985782 0.0961844 3564 31773 inframe_indel dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 5.05e-05 0.067 0.0165 Atopic conjunctivitis 0.0002644 1.06 0.291 DMP1 rs10019009 4:87661983:A:T 4 87661983 A T 4:88583135 0.999538 81014 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Medical observation and evaluation for suspected diseases and conditions 0.000607 -0.0394 0.0115 Bacterial meningitis 0.0001503 -0.292 0.077 DMP1 rs370153862 4:87662206:C:T 4 87662206 C T 4:88583358 0.928694 251 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cardiac murmurs and other cardiac sounds 0.000959 3.8087 1.1534 DMP1 rs79402270 4:87662253:C:A 4 87662253 C A 4:88583405 0.972199 189 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Anus and anal canal (other cancers excluded from controls) 0.00135 8.9572 2.7939 DMP1 rs141979823 4:87662622:C:A 4 87662622 C A 4:88583774 0.998278 8510 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypophosphatemic Rickets, Recessive;not provided Inflammation of lacrimal passages (acute and unspecified) 0.000346 1.422 0.3974 Other papulosquamous disorders 0.0007639 12.358 3.672 MEPE rs17013285 4:87845856:G:A 4 87845856 G A 4:88767008 0.985986 0.207424 16078 60127 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otosclerosis 4.34e-05 0.2245 0.0549 Otosclerosis 5.103e-05 0.32 0.079 PKD2 rs117078377 4:88008301:G:A 4 88008301 G A 4:88929453 0.996968 20881 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polycystic kidney disease, autosomal dominant;not provided;not specified Gastro-oesophageal reflux disease 0.000543 0.1109 0.0321 Other follicular disorders 1.801e-05 1.822 0.425 PKD2 rs2234917 4:88067937:A:C 4 88067937 A C 4:88989089 0.989168 130 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma and opportunit respiratory infection 0.00104 9.449 2.8809 PKD2 rs147654263 4:88067959:G:A 4 88067959 G A 4:88989111 0.998879 5652 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polycystic kidney disease, autosomal dominant;not provided;not specified Immune disease comorbidities 0.000369 0.1992 0.0559 Other disorders of binocular vision 0.0003148 18.439 5.118 ABCG2 rs2231142 4:88131171:G:T 4 88131171 G T 4:89052323 0.999142 0.074801 1936 25545 missense_variant dominant drug response drug response reviewed by expert panel Criteria_multSubmitter Blood group, Junior system;Ovarian Neoplasms;Uric acid concentration, serum, quantitative trait locus 1;allopurinol response - Dosage, Efficacy;rosuvastatin response - Efficacy Gout, FINNGEN 4.85e-35 0.7437 0.0602 Gout 3.607e-08 0.915 0.166 ABCG2 rs2231137 4:88139962:C:T 4 88139962 C T 4:89061114 0.998477 0.113264 5036 36576 missense_variant dominant Affects, association association no assertion criteria provided no_Criteria Gout 1.66e-06 -0.2301 0.048 Acute posthaemorrhagic anaemia 0.0006841 0.89 0.262 HERC5 rs78613619 4:88463979:G:C 4 88463979 G C 4:89385130 0.855146 61 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Certain infectious and parasitic diseases 0.000448 1.0803 0.3078 PIGY rs143548787 4:88521773:G:C 4 88521773 G C 4:89442924 0.984715 571 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Multiple gestation 0.000708 2.5073 0.7404 CCSER1 rs76504638 4:91085978:T:C 4 91085978 T C 4:92007129 0.984537 438 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Radial styloid tenosynovitis [de Quervain] 0.0015 3.2561 1.0253 ATOH1 rs35182771 4:93829637:C:A 4 93829637 C A 4:94750788 0.937458 2238 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pediculosis, acariasis and other infestations 0.000157 1.7966 0.4753 Non-allergic asthma 0.001788 7.419 2.375 SMARCAD1 rs139839410 4:94252777:C:T 4 94252777 C T 4:95173928 0.971685 2260 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hallux valgus (acquired) 0.00104 0.4275 0.1304 0.001295 -8.068 2.508 HPGDS rs76328980 4:94299521:C:T 4 94299521 C T 4:95220672 0.966054 569 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of muscles 0.000258 2.4197 0.6623 HPGDS rs34124298 4:94302198:A:G 4 94302198 A G 4:95223349 0.976895 549 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Muscle strain 0.000412 5.7467 1.6269 HPGDS rs61752528 4:94308699:T:C 4 94308699 T C 4:95229850 0.973284 546 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Muscle strain 0.000401 5.788 1.6353 PDLIM5 rs114713699 4:94662506:A:G 4 94662506 A G 4:95583657 0.993558 2118 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of prostate 0.000382 2.0998 0.5911 Actinic keratosis 0.0006238 11.002 3.216 BMPR1B rs35973133 4:95129947:G:A 4 95129947 G A 4:96051098 0.977755 437 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal spermatozoa 0.000612 4.0692 1.1877 ADH1B rs2066702 4:99307860:G:A 4 99307860 G A 4:100229017 0.976577 26 missense_variant unknown protective protective no assertion criteria provided no_Criteria Viral hepatitis 0.000904 22.1107 6.6623 ADH1B rs41275699 4:99318111:A:G 4 99318111 A G 4:100239268 0.98421 0.0112197 62 4060 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to alcohol, excluding acute intoxication 5.09e-06 0.3802 0.0834 Decubitus ulcer and pressure area 0.0004659 15.083 4.31 ADH1C rs35719513 4:99339626:G:T 4 99339626 G T 4:100260783 0.99863 2532 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute pancreatitis 0.000868 0.6166 0.1851 Other specified/unsepecified deforming dorsopathies 1.265e-05 75.965 17.399 ADH1C rs698 4:99339632:T:C 4 99339632 T C 4:100260789 0.999807 0.505172 93892 91702 missense_variant dominant protective protective no assertion criteria provided no_Criteria Superficial injury of hip and thigh 1.19e-05 -0.1698 0.0388 Superficial injury of hip and thigh 5.918e-05 -0.127 0.032 ADH1C rs1693482 4:99342808:C:T 4 99342808 C T 4:100263965 0.998178 0.505264 93936 91692 missense_variant dominant protective protective no assertion criteria provided no_Criteria Superficial injury of hip and thigh 1.25e-05 -0.1695 0.0388 Superficial injury of hip and thigh 5.658e-05 -0.127 0.032 TRMT10A rs147815779 4:99558191:C:T 4 99558191 C T 4:100479348 0.993084 0.00969819 52 3511 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Asthma (more controls excluded) 5.27e-05 0.2672 0.0661 Chronic sinusitis 0.0002506 2.913 0.795 MTTP rs11944752 4:99564098:G:A 4 99564098 G A 4:100485255 0.999838 57321 start_lost both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol related diseases, tilastokeskus definition 0.00134 -0.0657 0.0205 Follow-up examination after treatment for conditions other than malignant neoplasms 0.0002231 0.108 0.029 MTTP rs141736123 4:99581979:C:G 4 99581979 C G 4:100503136 0.994802 10414 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abetalipoproteinaemia Other disorders of pigmentation 0.000135 0.8212 0.2151 Other disorders of pigmentation 9.249e-06 6.737 1.519 MTTP rs61733139 4:99583409:G:C 4 99583409 G C 4:100504566 0.997548 6355 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abetalipoproteinaemia;not specified Later onset COPD 9e-04 0.3991 0.1202 0.0005463 -0.64 0.185 MTTP rs2306986 4:99583418:G:C 4 99583418 G C 4:100504575 0.996563 6992 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abetalipoproteinaemia Diseases of spleen 0.00348 1.5102 0.5169 Bullous pemphigoid 0.0003121 18.617 5.164 MTTP rs3816873 4:99583507:T:C 4 99583507 T C 4:100504664 0.9998 57403 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alcohol related diseases, tilastokeskus definition 0.00147 -0.0652 0.0205 Follow-up examination after treatment for conditions other than malignant neoplasms 0.0002526 0.107 0.029 MTTP rs3792683 4:99589746:A:G 4 99589746 A G 4:100510903 0.994491 6988 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abetalipoproteinaemia Diseases of spleen 0.00341 1.518 0.5184 Bullous pemphigoid 0.0002665 19.973 5.478 MTTP rs61750974 4:99591235:G:A 4 99591235 G A 4:100512392 0.982903 2820 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abetalipoproteinaemia Gestational [pregnancy-induced] hypertension 0.000677 0.6983 0.2054 Iliotibial band syndrome 0.001828 49.372 15.841 MTTP rs17599091 4:99591762:C:G 4 99591762 C G 4:100512919 0.99356 0.0304964 354 10850 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abetalipoproteinaemia;not specified Otalgia 1.27e-05 0.772 0.1769 AION (anterior ischemic optic neuropathy) 0.0002776 7.605 2.092 MTTP rs2306985 4:99594865:C:G 4 99594865 C G 4:100516022 0.996661 62026 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylolisthesis/Spondylolysis 0.000268 0.1459 0.04 Spondylolisthesis/Spondylolysis 1.497e-05 0.243 0.056 MTTP rs17029215 4:99600648:A:C 4 99600648 A C 4:100521805 0.999438 17344 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abetalipoproteinaemia;not specified Paralytic ileus 0.000333 0.6008 0.1674 Schizophrenia 0.0004615 0.951 0.272 MTTP rs113337987 4:99611445:G:A 4 99611445 G A 4:100532602 0.992935 4730 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abetalipoproteinaemia Psychiatric comorbidites (Asthma/COPD) 0.000407 -0.1766 0.05 Chronic sinusitis 5.004e-05 2.673 0.659 EMCN rs78403369 4:100465486:C:T 4 100465486 C T 4:101386643 0.951041 711 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of labour and delivery 0.000675 0.5138 0.1512 BANK1 rs35978636 4:101829857:G:C 4 101829857 G C 4:102751014 0.981366 5033 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Disorders of parathyroid gland 0.000233 -0.4507 0.1225 Scoliosis 0.002822 6.22 2.083 BANK1 rs10516487 4:101829919:G:A 4 101829919 G A 4:102751076 0.999594 78620 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Conductive hearing loss, unspecified 0.000434 -0.1724 0.049 Ulcerative rectosigmoiditis 2.427e-05 0.245 0.058 SLC39A8 rs147912552 4:102304412:G:C 4 102304412 G C 4:103225569 0.957654 202 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ohter specific/unspecified arthritis 0.000717 2.1877 0.6467 NFKB1 rs4648072 4:102597543:A:G 4 102597543 A G 4:103518700 0.997443 5254 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Appendicitis, broad definition 0.000446 0.187 0.0532 Other keratitis 0.0006311 5.614 1.643 NFKB1 rs149211506 4:102606588:G:T 4 102606588 G T 4:103527745 0.993437 2890 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of infectious and parasitic diseases 0.000837 0.8574 0.2567 Habitual aborter 0.001167 73.52 22.643 MANBA rs75826658 4:102632215:C:T 4 102632215 C T 4:103553372 0.982739 9082 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beta-D-mannosidosis;not provided Campylobacter enteritis 0.000312 1.0505 0.2913 Multiple gestation 0.0003917 2.8 0.79 MANBA rs150554352 4:102635012:C:T 4 102635012 C T 4:103556169 0.99459 4746 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other retinal disorders 0.000134 -0.2713 0.071 0.0001903 2.03 0.544 MANBA rs2866413 4:102635920:G:A 4 102635920 G A 4:103557077 0.996932 91252 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of upper respiratory tract 0.000295 -0.0314 0.0087 0.0003789 0.14 0.039 MANBA rs227368 4:102690688:C:T 4 102690688 C T 4:103611845 0.993326 90623 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atopic dermatitis 0.000207 0.0773 0.0208 Open wound of ankle and foot 0.001374 -0.112 0.035 MANBA rs144917953 4:102722941:C:T 4 102722941 C T 4:103644098 0.998066 2974 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Beta-D-mannosidosis Other hammer toe(s) (acquired) 0.00155 -0.5566 0.1758 Other congenital malformations of peripheral vascular system 0.001565 58.319 18.441 CENPE rs61751592 4:103123040:G:C 4 103123040 G C 4:104044197 0.984297 488 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corns and callosities 0.000671 2.8894 0.8495 CENPE rs61751594 4:103145116:T:G 4 103145116 T G 4:104066273 0.867595 408 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Scar conditions and fibrosis of skin 0.000123 6.2744 1.6342 CENPE rs114613121 4:103161388:T:C 4 103161388 T C 4:104082545 0.904692 438 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhage in early pregnancy 0.000604 1.5966 0.4655 TACR3 rs17033889 4:103589735:C:T 4 103589735 C T 4:104510892 0.966385 924 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Skin of other and unspecified parts of face 2e-04 1.6115 0.4333 Disorders of gallbladder, biliary tract and pancreas 0.0004982 3.072 0.882 TACR3 rs143073792 4:103589834:T:A 4 103589834 T A 4:104510991 0.968471 0.00773297 30 2811 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Isolated GnRH Deficiency;not specified Bipolar affective disorders 4.78e-05 0.6389 0.1571 Dependence on enabling machines and devices, not elsewhere classified 0.00186 47.198 15.168 TET2 rs12498609 4:105234028:C:G 4 105234028 C G 4:106155185 0.999509 20769 missense_variant unknown not provided not_provided no assertion provided none not specified Pustulosis palmaris et plantaris 0.000397 0.5371 0.1516 Other intervertebral disc disorders 0.0009499 0.25 0.076 TET2 rs111948941 4:105234042:C:T 4 105234042 C T 4:106155199 0.996844 0.016963 110 6122 missense_variant unknown not provided not_provided no assertion provided none not specified Malignant neoplasm of corpus uteri (other cancers excluded from controls) 8.07e-06 0.9245 0.2071 Congenital malformations of heart and great arteries 0.0002221 4.657 1.261 TET2 rs146031219 4:105234463:C:A 4 105234463 C A 4:106155620 0.995219 1765 missense_variant unknown not provided not_provided no assertion provided none not specified Benign neoplasm: Skin of ear and external auricular canal 0.000559 1.8427 0.534 Vitreous bleeding (caused by prolif. dmrp when together with H36.03*) 0.0003276 15.339 4.27 TET2 rs6843141 4:105234594:G:A 4 105234594 G A 4:106155751 0.997005 0.059218 1350 20406 missense_variant unknown not provided not_provided no assertion provided none not specified Hemiplegia 3.47e-05 0.4997 0.1207 Alcohol use disorder, Swedish definition 0.0001587 0.352 0.093 TET2 rs61744960 4:105235006:G:A 4 105235006 G A 4:106156163 0.996011 6070 missense_variant unknown not provided not_provided no assertion provided none not specified Infections of the skin and subcutaneous tissue 0.000344 -0.2312 0.0646 Benign mammary dysplasia 0.002202 2.353 0.769 TET2 rs17253672 4:105235030:C:T 4 105235030 C T 4:106156187 0.993175 33113 missense_variant unknown not provided not_provided no assertion provided none malignant neoplasm of male genital organs 0.000175 -0.1436 0.0383 0.0002532 0.811 0.222 TET2 rs144386291 4:105236541:T:C 4 105236541 T C 4:106157698 0.976778 694 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified disorders of white blood cells 0.000945 3.7415 1.1315 Foreign body in alimentary tract 0.0008485 96.341 28.875 TET2 rs147836249 4:105236546:T:G 4 105236546 T G 4:106157703 0.992793 3065 missense_variant unknown not provided not_provided no assertion provided none not specified Other arterial embolism and thrombosis 0.000402 1.9398 0.5482 Essential (haemorrhagic) thrombocythaemia 0.0001166 28.947 7.513 TET2 rs75056899 4:105237193:A:C 4 105237193 A C 4:106158350 0.997612 2614 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Toxic effect of ethanol 9e-04 1.228 0.3699 Fibromyalgia 4.711e-05 31.555 7.754 TET2 rs62623390 4:105275613:G:A 4 105275613 G A 4:106196770 0.973254 3745 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other diseases of pancreas 0.000171 1.2482 0.3321 Fibromyalgia 0.0003169 17.462 4.849 TET2 rs142312318 4:105275662:G:T 4 105275662 G T 4:106196819 0.976982 0.00542478 12 1981 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 3.21e-05 4.3129 1.0373 Other bursitis of hip 0.0004743 158.092 45.235 TET2 rs34402524 4:105275672:T:G 4 105275672 T G 4:106196829 0.996312 0.159461 9552 49032 missense_variant unknown not provided not_provided no assertion provided none Malignant neoplasm of prostate 4.22e-06 -0.1487 0.0323 malignant neoplasm of male genital organs 0.0001597 -0.2 0.053 TET2 rs146348065 4:105275677:C:T 4 105275677 C T 4:106196834 0.977647 695 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disorders of white blood cells 0.00092 3.7565 1.1335 TET2 rs2454206 4:105275794:A:G 4 105275794 A G 4:106196951 0.995175 82254 missense_variant unknown not provided not_provided no assertion provided none Other mental disorders due to brain damage and dysfunction and to physical disease 0.000289 -0.1687 0.0465 Habitual aborter 0.0002251 0.449 0.122 TET2 rs62621450 4:105275843:A:G 4 105275843 A G 4:106197000 0.999784 0.0188602 130 6799 missense_variant unknown not provided not_provided no assertion provided none not specified Malignant neoplasm of corpus uteri (other cancers excluded from controls) 6.39e-05 0.7669 0.1918 Lack of expected normal physiological development 0.000356 14.686 4.113 PPA2 rs146013446 4:105437964:C:T 4 105437964 C T 4:106359121 0.913606 352 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Alcohol-induced chronic pancreatitis 0.00171 3.231 1.0304 PPA2 rs35571699 4:105473987:T:C 4 105473987 T C 4:106395144 0.999512 0.036441 454 12934 missense_variant recessive not provided not_provided no assertion provided none Benign mammary dysplasia 4.36e-05 0.3499 0.0856 Disorders of calcium metabolism 0.0003072 3.076 0.852 TBCK rs34840340 4:106242510:T:A 4 106242510 T A 4:107163667 0.989693 1140 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Cranial nerves (other cancers excluded from controls) 0.000533 3.5154 1.015 CYP2U1 rs148477072 4:107945329:T:C 4 107945329 T C 4:108866485 0.996948 0.00705793 40 2553 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Ulcerative colitis 7.54e-05 0.6071 0.1534 Type 2 diabetes with neurological complications 0.0009806 9.515 2.887 CYP2U1 rs142676629 4:107947400:G:T 4 107947400 G T 4:108868556 0.98851 393 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm, without specification of site (other cancers excluded from controls) 0.00161 5.2268 1.6567 HADH rs760202 4:107989862:C:T 4 107989862 C T 4:108911018 0.997361 2947 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of 3-hydroxyacyl-CoA dehydrogenase;Hyperinsulinism, Dominant/Recessive Volvulus 0.000121 2.3297 0.6062 Sequelae of injuries of lower limb 0.001606 8.469 2.685 HADH rs17550794 4:107989895:T:C 4 107989895 T C 4:108911051 0.998105 14336 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of 3-hydroxyacyl-CoA dehydrogenase;Hyperinsulinism, Dominant/Recessive Peripheral artery disease 0.000103 -0.2091 0.0538 Subjective visual disturbances 0.0007332 0.941 0.279 HADH rs4956145 4:108009883:T:C 4 108009883 T C 4:108931039 0.99924 0.958978 337936 14381 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peripheral artery disease 9.44e-05 0.21 0.0538 Peripheral artery disease 9.111e-05 0.109 0.028 HADH rs61735992 4:108014444:T:G 4 108014444 T G 4:108935600 0.993787 1583 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Monogenic diabetes;not provided;not specified Complications of internal orthopaedic prosthetic devices, implants and grafts 0.000113 0.9474 0.2454 Bronchiectasis 0.003753 24.16 8.336 HADH rs1051519 4:108019576:G:T 4 108019576 G T 4:108940732 0.96958 145 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of skin of lower limb, including hip 0.00196 18.7442 6.0528 LEF1 rs61752607 4:108165124:C:T 4 108165124 C T 4:109086280 0.998024 0.010346 64 3737 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative colitis 9.06e-05 0.4961 0.1267 Sequelae of injuries of lower limb 0.0003305 7.03 1.958 CFI rs113460688 4:109740988:G:A 4 109740988 G A 4:110662144 0.977016 164 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified mononeuropathies of upper limb 0.000842 10.3845 3.1104 CFI rs41278047 4:109746329:T:C 4 109746329 T C 4:110667485 0.879757 52 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bacterial meningitis 0.00205 15.1545 4.9157 CFI rs74817407 4:109746434:C:T 4 109746434 C T 4:110667590 0.995725 0.0209125 178 7505 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atypical hemolytic uremic syndrome Other anxiety disorders 5.84e-06 0.299 0.066 Hernia 0.0002575 0.697 0.191 CFI rs201419000 4:109766563:T:C 4 109766563 T C 4:110687719 0.998024 1367 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atypical hemolytic uremic syndrome Superficial injury of neck 0.000247 4.1611 1.1351 Effects of other external causes 0.003027 32.642 11.009 LRIT3 rs79039619 4:109851718:C:G 4 109851718 C G 4:110772874 0.999408 0.0207955 168 7472 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Stationary Night Blindness, Recessive;not specified Other anxiety disorders 6.83e-06 0.2975 0.0661 Hernia 0.0003613 0.693 0.194 LRIT3 rs61745483 4:109851892:C:A 4 109851892 C A 4:110773048 0.989519 0.0691503 1778 23627 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Atrial fibrillation and flutter with reimbursement 3.62e-05 0.1676 0.0406 Other and unspecified hydrocephalus 7.954e-05 4.277 1.084 LRIT3 rs4698797 4:109851911:G:A 4 109851911 G A 4:110773067 0.996845 0.609669 136880 87105 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of eye and adnexa 1.41e-05 0.1667 0.0384 Other disorders of eye and adnexa 0.0005243 0.095 0.028 LRIT3 rs75301950 4:109851952:C:T 4 109851952 C T 4:110773108 0.999409 0.0208744 168 7501 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Stationary Night Blindness, Recessive;not specified Other anxiety disorders 6.02e-06 0.299 0.0661 Hernia 0.0003613 0.693 0.194 LRIT3 rs764205 4:109869755:A:T 4 109869755 A T 4:110790911 0.996496 0.608855 136598 87088 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of eye and adnexa 2.25e-05 0.1627 0.0384 Other disorders of eye and adnexa 0.0006977 0.093 0.028 LRIT3 rs184650144 4:109869931:ATCT:A 4 109869931 ATCT A 4:110791087 0.954933 0.0360654 526 12724 inframe_indel recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Stationary Night Blindness, Recessive;not specified Other intervertebral disc disorders 1.25e-05 -0.1534 0.0351 Alzheimer's disease (undefined) 0.0009783 6.372 1.933 LRIT3 rs2347131 4:109870205:G:A 4 109870205 G A 4:110791361 0.997623 48427 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ohter specific/unspecified arthritis 0.000819 0.1186 0.0355 Adult-onset Still disease 0.0002262 0.241 0.065 LRIT3 rs2347132 4:109870257:C:T 4 109870257 C T 4:110791413 0.997612 48404 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ohter specific/unspecified arthritis 0.000873 0.1179 0.0354 Adult-onset Still disease 0.0001937 0.243 0.065 LRIT3 rs35997283 4:109870370:A:G 4 109870370 A G 4:110791526 0.95294 1691 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Abnormalities of heart beat 1e-04 0.653 0.1678 Superficial injuries involving multiple body regions 0.0006114 122.21 35.666 LRIT3 rs1188341991 4:109870498:CCTT:C 4 109870498 CCTT C 4:110791654 0.995769 2105 inframe_indel recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism (congenital or acquired) 0.000561 0.3458 0.1002 Benign neoplasm: Rectosigmoid junction (other cancers excluded from controls) 0.001165 69.965 21.546 EGF rs11568849 4:109913381:A:C 4 109913381 A C 4:110834537 0.990913 0.021035 174 7554 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal Hypomagnesemia, Recessive Other anxiety disorders 9.08e-06 0.2924 0.0659 Hernia 0.001115 0.62 0.19 EGF rs11568943 4:109961965:G:A 4 109961965 G A 4:110883121 0.994863 23574 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Renal Hypomagnesemia, Recessive Other soft tissue disorders, not elsewhere classified 0.000478 -0.0912 0.0261 Other disorders of breast 0.0001223 0.887 0.231 EGF rs115396821 4:109969118:G:A 4 109969118 G A 4:110890274 0.987033 535 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dependent personality disorder 0.000779 4.8548 1.4447 EGF rs2237051 4:109980042:G:A 4 109980042 G A 4:110901198 0.999888 0.349606 44990 83451 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of eye and adnexa 3.31e-05 -0.1634 0.0394 Primary_lymphoid and hematopoietic malignant neoplasms 0.0001627 -0.117 0.031 EGF rs11569017 4:109980955:A:T 4 109980955 A T 4:110902111 0.99479 21080 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Renal Hypomagnesemia, Recessive Rheumatism, unspecified 0.000549 -0.2351 0.068 Abnormal findings on diagnostic imaging of other body structures 0.000214 1.156 0.312 EGF rs4698803 4:109993271:A:T 4 109993271 A T 4:110914427 0.972296 0.795151 232616 59513 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation of lens 9.59e-05 0.5842 0.1498 Dislocation of lens 8.034e-05 0.347 0.088 EGF rs75935899 4:109999791:G:A 4 109999791 G A 4:110920947 0.99433 4283 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizotypal disorder 0.000474 -1.1782 0.3371 Symptoms and signs concerning food and fluid intake 0.00133 4.314 1.344 PITX2 rs77144743 4:110618538:C:T 4 110618538 C T 4:111539694 0.958671 1051 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anterior segment mesenchymal dysgenesis;Axenfeld-Rieger Syndrome;Cataract;Irido-corneo-trabecular dysgenesis;Iridogoniodysgenesis, dominant type;PITX2-Related Eye Abnormalities;Ring dermoid of cornea;not specified Universal eryhrodermia, KELA reimbursement 0.000205 6.687 1.8009 Tic disorders 0.0002731 188.776 51.868 ALPK1 rs33943680 4:112382476:A:G 4 112382476 A G 4:113303632 0.994209 0.00200333 0 736 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the hip and thigh 7.67e-06 1.0724 0.2397 ALPK1 rs34946272 4:112432165:G:T 4 112432165 G T 4:113353321 0.992611 0.00473342 12 1727 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of peritoneum 8.32e-05 1.2998 0.3303 CR(E)ST syndrome 0.0005856 132.648 38.581 ALPK1 rs35756863 4:112438645:T:C 4 112438645 T C 4:113359801 0.994755 4391 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of liver and intrahepatic bile ducts 0.000699 1.483 0.4375 Acute epiglottitis 3.844e-05 48.743 11.84 ZGRF1 rs76187047 4:112585555:C:T 4 112585555 C T 4:113506711 0.967774 902 missense_variant unknown Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Rotator cuff syndrome 0.00115 0.5409 0.1664 Injury of muscle and tendon at hip and thigh level 0.001677 49.434 15.732 ZGRF1 rs61745597 4:112623837:G:T 4 112623837 G T 4:113544993 0.98158 918 missense_variant unknown Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Rotator cuff syndrome 0.00285 0.4826 0.1617 Long labour 0.0008442 8.195 2.455 LARP7 rs79383654 4:112644679:G:A 4 112644679 G A 4:113565835 0.994081 9169 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Emotional disorders and disorders of social functioning with onset specific to childhood 0.00133 0.6067 0.1891 Secondary malignant neoplasm of other and unspecified sites 0.001038 10.523 3.208 LARP7 rs62317770 4:112647388:G:A 4 112647388 G A 4:113568544 0.994091 9185 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Emotional disorders and disorders of social functioning with onset specific to childhood 0.00135 0.6059 0.189 Secondary malignant neoplasm of other and unspecified sites 0.001038 10.523 3.208 ANK2 rs200648573 4:113343114:A:G 4 113343114 A G 4:114264270 0.925942 439 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Macular hole 0.000726 5.0312 1.4887 ANK2 rs35249198 4:113353362:C:T 4 113353362 C T 4:114274518 0.98965 0.00891973 30 3247 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Long QT syndrome;not specified Hirsutism 4.47e-05 3.0077 0.7369 Cervical root disorders 0.002099 44.303 14.404 ANK2 rs138842207 4:113353363:G:A 4 113353363 G A 4:114274519 0.964118 107 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute epiglottitis 0.000832 23.7474 7.1059 ANK2 rs200765866 4:113354794:C:T 4 113354794 C T 4:114275950 0.994053 309 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Obstructed labour due to maternal pelvic abnormality 0.000352 2.9645 0.8295 ANK2 rs144848998 4:113354846:G:T 4 113354846 G T 4:114276002 0.969763 156 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Adrenal gland (other cancers excluded from controls) 0.000454 8.4543 2.411 ANK2 rs28377576 4:113355724:T:C 4 113355724 T C 4:114276880 0.995094 35123 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on examination of urine, without diagnosis 0.00121 0.3515 0.1086 Other diseases of biliary tract 0.0002597 0.706 0.193 ANK2 rs141191319 4:113355750:G:A 4 113355750 G A 4:114276906 0.987447 1038 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiac arrhythmia, ankyrin B-related;Cardiovascular phenotype;Long QT syndrome;not provided;not specified Other diseases of liver 0.000583 1.1685 0.3398 Other arrhytmias 0.0005966 2.727 0.794 ANK2 rs142078935 4:113356015:G:A 4 113356015 G A 4:114277171 0.995983 1158 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory disease of uterus 0.00028 1.1998 0.3302 ANK2 rs145895389 4:113356972:C:T 4 113356972 C T 4:114278128 0.982588 0.00111054 0 408 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic gastritis 2.57e-05 1.5661 0.3721 ANK2 rs3733617 4:113357121:C:T 4 113357121 C T 4:114278277 0.998191 7855 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Long QT syndrome;not specified Other congenital malformations of face and neck 0.00036 1.0328 0.2895 Lesion of radial nerve 6.255e-05 12.373 3.091 ANK2 rs149043752 4:113358443:T:G 4 113358443 T G 4:114279599 0.996587 318 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Atopic dermatitis 0.000871 1.311 0.3938 ANK2 rs36210417 4:113358472:T:C 4 113358472 T C 4:114279628 0.970024 2407 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiac arrhythmia, ankyrin B-related;Cardiovascular phenotype;Long QT syndrome;not provided;not specified malignant neoplasm of female genital organs 0.000405 0.5975 0.169 Other specified/unspecified systemic involvement of connective tissue 0.000231 17.719 4.812 ANK2 rs34270799 4:113358518:C:A 4 113358518 C A 4:114279674 0.993351 11810 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiac arrhythmia, ankyrin B-related;Cardiovascular phenotype;Long QT syndrome;not specified Myositis 0.00016 1.005 0.2662 Circumscribed brain atrophy 0.0004464 6.461 1.84 ANK2 rs200605861 4:113358872:A:C 4 113358872 A C 4:114280028 0.915408 232 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chron's disease NAS 0.000318 5.385 1.4957 ANK2 rs66785829 4:113365051:T:A 4 113365051 T A 4:114286207 0.994891 0.00171481 2 628 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Isolated proteinuria 2.53e-05 6.3633 1.5108 ANK2 rs121912705 4:113367764:C:A 4 113367764 C A 4:114288920 0.829902 98 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Other specified and unspecified strabismus 0.00109 32.39 9.92 ANK2 rs778797451 4:113373153:G:A 4 113373153 G A 4:114294309 0.984733 317 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other appendicitis 0.000616 2.9506 0.8616 ANK2 rs121912706 4:113373306:C:T 4 113373306 C T 4:114294462 0.959626 175 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Motor disorders (more controls excluded) 0.000151 13.745 3.6274 ANK2 rs180795690 4:113381579:G:A 4 113381579 G A 4:114302735 0.892654 854 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other follicular disorders 0.000817 2.2526 0.673 CAMK2D rs35367671 4:113537357:G:T 4 113537357 G T 4:114458513 0.952999 3735 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Femoral hernia 0.000983 1.0206 0.3097 Other diseases of biliary tract 0.000522 13.021 3.753 ARSJ rs75252202 4:113902830:C:T 4 113902830 C T 4:114823986 0.975432 0.00186724 4 682 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of head 2.84e-05 4.6604 1.1133 PRSS12 rs17594503 4:118282066:C:T 4 118282066 C T 4:119203221 0.997978 17963 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intellectual Disability, Recessive;not specified Ankylosing spondylitis, strict definition 0.000295 0.5754 0.159 0.0002455 -0.251 0.069 PRSS12 rs35996030 4:118282175:G:A 4 118282175 G A 4:119203330 0.989839 907 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Wegener granulomatosis 0.000703 5.0591 1.4931 Other and unspecified paralytic syndromes 0.0002318 292.177 79.362 PRSS12 rs28661939 4:118298754:C:A 4 118298754 C A 4:119219909 0.999516 0.21195 16460 61408 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of forearm 6.73e-06 0.2624 0.0583 Superficial injury of forearm 4.062e-05 0.344 0.084 PRSS12 rs13119545 4:118352557:C:G 4 118352557 C G 4:119273712 0.993719 89392 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Infections of breast associated with childbirth 0.000633 0.2846 0.0833 Infections of breast associated with childbirth 3.472e-05 0.26 0.063 SEC24D rs141180741 4:118752734:G:A 4 118752734 G A 4:119673889 0.996556 11414 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sensorineural hearing loss 1e-04 0.151 0.0388 Malignant neoplasm of digestive organs 0.0001488 1.092 0.288 SEC24D rs35392900 4:118815471:G:C 4 118815471 G C 4:119736626 0.93169 779 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hordeolum and other deep inflammation of eyelid 0.000674 3.1309 0.9209 SEC24D rs2389688 4:118815641:A:C 4 118815641 A C 4:119736796 0.999185 0.477389 83806 91581 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Other/unspecified site (other cancers excluded from controls) 8.27e-05 0.4321 0.1098 Papulosquamous disorders 2.898e-05 -0.074 0.018 SEC24D rs150602522 4:118815695:G:A 4 118815695 G A 4:119736850 0.995487 1000 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mycoses 0.000646 0.8863 0.2598 Other and unspecified injuries of thorax 0.0004449 172.418 49.095 SEC24D rs143180885 4:118824687:G:T 4 118824687 G T 4:119745842 0.992354 417 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myasthenia gravis 0.000266 9.1292 2.5039 MYOZ2 rs140126678 4:119186143:A:G 4 119186143 A G 4:120107298 0.997406 7330 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypertrophic cardiomyopathy 16;Hypertrophic cardiomyopathy;not provided;not specified Viral infections of the central nervous system 0.000223 0.6745 0.1827 Injuries to the head 0.001082 0.591 0.181 USP53 rs201205533 4:119245365:G:A 4 119245365 G A 4:120166520 0.90542 116 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hyperkinetic disorders 0.000154 9.4972 2.5098 USP53 rs113583516 4:119248751:A:T 4 119248751 A T 4:120169906 0.993558 2364 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adrenocortical insufficiency 2e-04 2.1708 0.5838 Gonarthrosis 0.0006058 1.596 0.466 USP53 rs147140509 4:119271709:C:T 4 119271709 C T 4:120192864 0.957958 405 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Optic neuritis 0.000213 5.194 1.4028 FABP2 rs1799883 4:119320747:T:C 4 119320747 T C 4:120241902 0.997836 0.720358 190916 73735 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Other pulmonary heart/vessel disease 3.97e-05 -0.344 0.0837 Other pulmonary heart/vessel disease 0.00116 -0.172 0.053 PDE5A rs139979143 4:119505903:C:T 4 119505903 C T 4:120427058 0.953144 1437 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemangioma, any site 0.000934 1.41 0.426 Bullous pemphigoid 0.0008475 95.909 28.743 MAD2L1 rs61752608 4:120060168:T:C 4 120060168 T C 4:120981323 0.978808 1727 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Poisoning by drugs, medicaments and biological substances 0.00141 -0.6061 0.1898 Vertical strabismus 0.002079 42.905 13.936 PRDM5 rs140634372 4:120798389:A:T 4 120798389 A T 4:121719544 0.999111 17596 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified Other/unspecified soft tissue disorders related to use, overuse and pressure 0.000475 0.6879 0.1968 Other and unspecified follicular disorders 0.000931 2.338 0.706 PRDM5 rs146268537 4:120818512:T:A 4 120818512 T A 4:121739667 0.986908 7655 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Actinic keratosis 0.000671 0.3039 0.0894 Benign neoplasm of other and unspecified sites (other cancers excluded from controls) 0.0002283 8.039 2.181 BBS7 rs111442398 4:121843997:T:C 4 121843997 T C 4:122765152 0.913432 62 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Coronary artery bypass grafting 0.000273 4.6447 1.2761 KIAA1109 rs76067900 4:122239527:A:G 4 122239527 A G 4:123160682 0.997219 518 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 0.000139 0.8584 0.2253 BBS12 rs138036823 4:122742008:T:C 4 122742008 T C 4:123663163 0.952899 700 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of refraction and accommodation 0.000646 1.2363 0.3624 BBS12 rs309370 4:122743049:G:A 4 122743049 G A 4:123664204 0.996009 0.296379 32746 76140 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes with peripheral circulatory complications 9.64e-05 -0.355 0.091 Other abnormal immunological findings in serum 0.001268 0.455 0.141 BBS12 rs13135778 4:122743291:G:A 4 122743291 G A 4:123664446 0.995168 0.208338 16052 60489 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ocular pain 4.8e-05 -0.2792 0.0687 Excessive vomiting in pregnancy 5.557e-05 0.425 0.105 SPATA5 rs55643281 4:122934358:T:C 4 122934358 T C 4:123855513 0.995394 1919 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy, hearing loss, and mental retardation syndrome Diabetic nephropathy 0.00149 -0.6559 0.2065 Superficial injury of neck 0.001589 56.836 17.997 SPATA5 rs35343500 4:123028234:G:C 4 123028234 G C 4:123949389 0.990119 1613 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy, hearing loss, and mental retardation syndrome Finngen Rheumatological endpoints 0.000162 -0.2728 0.0723 Benign neoplasm: Other/unspecified site (other cancers excluded from controls) 0.0007349 114.946 34.046 SPATA5 rs35206443 4:123256160:G:T 4 123256160 G T 4:124177315 0.993093 944 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, hearing loss, and mental retardation syndrome;not provided;not specified Inguinal hernia, bilateral 0.000751 1.5452 0.4585 Other postsurgical states 0.0008815 92.546 27.826 FAT4 rs200221425 4:125316542:A:C 4 125316542 A C 4:126237697 0.897107 346 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis of knee 0.00118 11.1232 3.428 FAT4 rs143534324 4:125316935:G:T 4 125316935 G T 4:126238090 0.990784 394 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of appendix 0.00059 11.828 3.4422 FAT4 rs191329848 4:125317150:C:A 4 125317150 C A 4:126238305 0.983194 926 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Asthma, unspecified (mode) (more controls excluded) 0.000821 0.6043 0.1806 FAT4 rs6847454 4:125317769:A:T 4 125317769 A T 4:126238924 0.992166 88144 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Undetermined asthma (more controls excluded) 0.00219 0.1257 0.041 Congenital malformations of heart and great arteries 0.0004841 0.127 0.036 FAT4 rs1039808 4:125318831:C:T 4 125318831 C T 4:126239986 0.993094 88133 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Undetermined asthma (more controls excluded) 0.00276 0.1227 0.041 Congenital malformations of heart and great arteries 0.0004328 0.128 0.036 FAT4 rs181368820 4:125320069:T:A 4 125320069 T A 4:126241224 0.997011 10457 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of skin and subcutaneous tissue 0.0012 -0.1526 0.0471 Carcinoid syndrome 0.0008379 11.841 3.545 FAT4 rs36052762 4:125320180:C:G 4 125320180 C G 4:126241335 0.9871 11939 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Mental and behabioural disorders of puerperum, not classified elsewhere (more controls excluded) 0.000143 1.447 0.3804 Unspecified fall 0.000449 8.858 2.524 FAT4 rs142747281 4:125320714:A:G 4 125320714 A G 4:126241869 0.959707 606 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leiomyoma of uterus (other cancers excluded from controls) 0.000285 0.6336 0.1746 FAT4 rs73849225 4:125450659:C:T 4 125450659 C T 4:126371814 0.994798 27580 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Inflammatory disorders of male genital organs, not elsewhere classified 0.000802 0.7806 0.2328 Other and unspecified disorders of psychological development 6.648e-05 3.239 0.812 FAT4 rs147872710 4:125451400:A:G 4 125451400 A G 4:126372555 0.983438 471 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes, several complications 0.000287 1.1354 0.3131 FAT4 rs1567047 4:125451587:G:A 4 125451587 G A 4:126372742 0.996387 67702 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maternal care for known or suspected abnormality of pelvic organs 0.000112 0.1217 0.0315 Arthropathies 0.001892 -0.038 0.012 FAT4 rs76491994 4:125451820:A:C 4 125451820 A C 4:126372975 0.996985 5929 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other disorders starting during childhood or adolecense (more controls excluded) 0.000323 1.0031 0.2789 Congenital malformations of the musculoskeletal system, not elsewhere classified 8.087e-05 35.058 8.894 FAT4 rs111423173 4:125451863:C:T 4 125451863 C T 4:126373018 0.915665 686 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Liver 0.000449 5.7191 1.6298 FAT4 rs75380987 4:125452415:C:T 4 125452415 C T 4:126373570 0.995461 23682 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Injury of muscle and tendon at shoulder and upper arm level 0.000186 -0.1641 0.0439 Other symptoms and signs involving the digestive system and abdomen 2.43e-05 0.784 0.186 FAT4 rs138019311 4:125468676:C:T 4 125468676 C T 4:126389831 0.992258 881 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Vascular dementia 0.000107 2.5394 0.6554 FAT4 rs147662558 4:125490951:C:G 4 125490951 C G 4:126412106 0.974207 3942 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Localized swelling, mass and lump of skin and subcutaneous tissue 0.000482 0.4122 0.1181 Hyperprolactinaemia 0.0005791 13.862 4.028 FAT4 rs72675395 4:125490999:G:A 4 125490999 G A 4:126412154 0.997618 4364 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Inflammatory disorders of breast 0.000902 0.964 0.2904 Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 0.0001693 23.41 6.224 FAT4 rs1014867 4:125491736:C:T 4 125491736 C T 4:126412891 0.996423 0.0447864 764 15690 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Pre-eclampsia or eclampsia 7.48e-06 0.2905 0.0649 Use of disulfiram, acamprosate or naltrexone 0.0001422 1.453 0.382 INTU rs150681845 4:127687772:G:A 4 127687772 G A 4:128608927 0.952978 332 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting no assertion criteria provided no_Criteria Prurigo nodularis 0.000183 9.9265 2.6534 PLK4 rs35049837 4:127886320:C:T 4 127886320 C T 4:128807475 0.992875 537 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and unspecified endocrine glands 0.000662 2.0881 0.6132 MFSD8 rs3733319 4:127921606:G:A 4 127921606 G A 4:128842761 0.999937 0.0561777 1274 19365 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neuronal Ceroid-Lipofuscinosis, Recessive;Seizures;not provided;not specified Primary open-angle glaucoma 6.64e-05 0.2236 0.0561 Human immunodeficiency virus [HIV] disease 0.001116 2.221 0.681 MFSD8 rs11098943 4:127921721:C:G 4 127921721 C G 4:128842876 0.993677 472 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cutaneous abscess, furuncle and carbuncle 0.00164 1.2725 0.4042 MFSD8 rs150418024 4:127921956:C:G 4 127921956 C G 4:128843111 0.993427 3383 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Ceroid lipofuscinosis neuronal 7;Macular dystrophy with central cone involvement;Seizures;not provided;not specified Phakomatoses, not elsewhere classified 0.00154 2.4053 0.7595 Oesophagitis 0.0005051 14.536 4.179 SCLT1 rs77885682 4:128943120:C:T 4 128943120 C T 4:129864275 0.991895 260 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hearing loss 0.000476 2.0507 0.5869 SCLT1 rs141863899 4:128970387:C:A 4 128970387 C A 4:129891542 0.971523 1296 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of procedures, not elsewhere classified 0.00121 0.3916 0.121 SCLT1 rs115856712 4:129003855:A:T 4 129003855 A T 4:129925010 0.934003 868 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of infectious and parasitic diseases 0.000358 1.8845 0.528 Other arthrosis 0.002864 5.926 1.987 PCDH10 rs115671631 4:133152551:T:C 4 133152551 T C 4:134073706 0.910839 174 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular disorders of the intestines 0.000607 7.108 2.0733 RAB33B rs371561776 4:139454323:A:G 4 139454323 A G 4:140375477 0.973863 347 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Endocarditis 0.000195 6.6903 1.7956 MGST2 rs116372322 4:139703502:T:C 4 139703502 T C 4:140624656 0.9575 2069 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 0.000582 0.9323 0.271 Benign neoplasm: Skin of eyelid, including canthus 7.32e-05 26.637 6.717 ELMOD2 rs142450830 4:140540196:A:C 4 140540196 A C 4:141461350 0.995433 8740 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Gastro-oesophageal reflux disease 0.000518 0.1706 0.0491 Angina pectoris 2.788e-05 0.832 0.198 UCP1 rs150067245 4:140568612:G:A 4 140568612 G A 4:141489766 0.992153 4003 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Purpura and other haemorrhagic conditions 0.000307 0.7009 0.1942 Congenital malformations of the nervous system 0.000448 15.085 4.298 OTUD4 rs36225458 4:145159551:G:C 4 145159551 G C 4:146080703 0.971007 297 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Inflammatory disorders of male genital organs, not elsewhere classified 0.000561 12.3784 3.5881 MMAA rs2270655 4:145655266:G:C 4 145655266 G C 4:146576418 0.999718 19771 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Methylmalonic acidemia;not specified Other and unspecified iron deficiency 6e-04 0.191 0.0556 0.0001561 3.606 0.954 SLC10A7 rs138035413 4:146258757:C:T 4 146258757 C T 4:147179909 0.979664 0.0110074 58 3986 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute bronchiolitis 4e-05 1.2479 0.3038 Other/unspecified cytomegaloviral diseases 4.842e-05 42.882 10.554 POU4F2 rs147517729 4:146639995:C:A 4 146639995 C A 4:147561147 0.979636 5901 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Motor neuron disease 0.00039 1.7986 0.5071 Suggestive for eosinophilic asthma 0.0002046 4.651 1.252 NR3C2 rs5522 4:148436323:C:T 4 148436323 C T 4:149357475 0.999832 30352 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Keratitis and keratoconjunctivitis in other diseases classified elsewhere 0.000848 -0.4323 0.1296 0.0005722 -0.039 0.011 LRBA rs145709687 4:150265730:G:A 4 150265730 G A 4:151186882 0.962385 0.000871014 4 316 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Common variable immunodeficiency 8, with autoimmunity;not specified Conductive hearing loss, unspecified 1.65e-07 5.8295 1.1135 Care involving use of rehabilitation procedures 0 7.822 0 LRBA rs2290846 4:150277928:G:A 4 150277928 G A 4:151199080 0.99993 0.221648 18096 63335 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholelithiasis 1.31e-13 0.1184 0.016 Cholelithiasis 1.515e-06 0.104 0.022 LRBA rs3749574 4:150285975:C:T 4 150285975 C T 4:151207127 0.999017 0.234828 20356 65917 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholelithiasis 1.16e-11 0.1062 0.0157 Cholelithiasis 2.695e-06 0.096 0.02 LRBA rs62346982 4:150321257:T:G 4 150321257 T G 4:151242409 0.924356 1178 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Common variable immunodeficiency 8, with autoimmunity;not provided;not specified Malignant neoplasm, without specification of site 0.000515 2.8731 0.8274 Asthma-related pneumonia 0.00071 3.152 0.931 LRBA rs151286835 4:150436758:G:T 4 150436758 G T 4:151357910 0.995512 2539 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Lactose intolerance, other/unspecified 0.000299 1.9875 0.5496 Benign neoplasm: Stomach (other cancers excluded from controls) 0.001587 53.622 16.978 LRBA rs35879351 4:150599064:G:A 4 150599064 G A 4:151520216 0.995273 14152 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Common variable immunodeficiency 8, with autoimmunity;not specified Angina pectoris 0.000335 -0.1374 0.0383 Other disorders of optic [2nd] nerve and visual pathways 0.0003364 2.226 0.621 LRBA rs118037378 4:150850869:T:C 4 150850869 T C 4:151772021 0.985837 8363 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Paranoid personality disorder 0.000141 1.1182 0.2937 Unspecified chronic bronchitis 0.000606 5.747 1.676 LRBA rs1782360 4:150852441:G:C 4 150852441 G C 4:151773593 0.998321 44972 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter In situ neoplasms (other cancers excluded from controls) 0.000225 0.154 0.0417 Other specified cerebrovascular diseases, other cerebrovascular disorders in diseases classified elsewhere 0.0005541 0.465 0.135 LRBA rs140666848 4:150870530:T:C 4 150870530 T C 4:151791682 0.977916 799 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Common variable immunodeficiency 8, with autoimmunity;Hirschsprung disease 1;not provided;not specified Peroneal tendinitis 0.000616 7.2177 2.1078 Volvulus 0.0007082 104.018 30.716 LRBA rs72719663 4:150872751:T:C 4 150872751 T C 4:151793903 0.99355 8629 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Common variable immunodeficiency 8, with autoimmunity Emotional disorders starting during childhood or adolecense (more controls excluded) 0.000123 0.9554 0.2488 Substance use, excluding alcohol 0.000543 1.676 0.484 LRBA rs116355217 4:150908428:T:C 4 150908428 T C 4:151829580 0.975868 585 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pemphigoid 0.000117 7.7969 2.0241 LRBA rs150755521 4:151014591:C:T 4 151014591 C T 4:151935743 0.967499 2880 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of skin and subcutaneous tissue 0.00135 0.2897 0.0904 Use of antiglaucoma preparations and miotics 0.000196 7.808 2.097 FAM160A1 rs766363756 4:151650458:A:G 4 151650458 A G 4:152571610 0.922656 163 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Benign neoplasm: Duodenum (other cancers excluded from controls) 0.000203 16.7761 4.516 TRIM2 rs146705057 4:153270426:G:A 4 153270426 G A 4:154191578 0.986194 823 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medial epicondylitis 0.000384 3.2252 0.9083 TLR2 rs139227237 4:153703557:T:C 4 153703557 T C 4:154624709 0.989462 6763 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Biliary chirrosis, primary 0.000749 1.3492 0.4003 Additional codes for the location of defect, injury or illness 7.311e-06 11.449 2.553 TLR2 rs5743708 4:153705165:G:A 4 153705165 G A 4:154626317 0.970208 11489 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Mycobacterium tuberculosis, susceptibility to Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.000708 -0.3522 0.104 Cerebral palsy 4.515e-05 8.043 1.971 FGB rs371842822 4:154565893:G:C 4 154565893 G C 4:155487045 0.845264 176 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Acohol-induced acute pancreatitis 0.000879 10.2034 3.0672 FGB rs2227434 4:154565991:C:T 4 154565991 C T 4:155487143 0.991867 0.00144534 4 527 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine with aura 3.33e-05 1.526 0.3677 Other specified/unspecified inflammatory spondylopathies 0.001841 42.582 13.671 FGB rs4220 4:154570607:G:A 4 154570607 G A 4:155491759 0.999906 52558 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other reactioin to severe stress, and adjustment disorders 0.000497 -0.0909 0.0261 Problems related to life-management difficulty 4.533e-07 0.488 0.097 FGA rs6050 4:154586438:T:C 4 154586438 T C 4:155507590 0.998828 0.315032 36746 78993 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Venous thromboembolism 2.78e-23 0.1937 0.0195 Venous thromboembolism 2.006e-13 0.159 0.022 FGG rs148685782 4:154611883:G:C 4 154611883 G C 4:155533035 0.991738 438 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Gastric ulcer 0.00106 1.6786 0.5128 PDGFC rs139145392 4:156970791:T:C 4 156970791 T C 4:157891943 0.990085 1744 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyspnoea 0.000199 0.3701 0.0995 Hypertensive diseases (excluding secondary) 0.0002847 1.566 0.432 ETFDH rs11559290 4:158680524:C:T 4 158680524 C T 4:159601676 0.992425 25849 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Examination and observation for other reasons 0.00189 0.0921 0.0297 Hydrocephalus 0.001848 0.197 0.063 ETFDH rs200111698 4:158706278:C:T 4 158706278 C T 4:159627430 0.994152 2239 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glutaric aciduria, type 2;not provided Vulvovaginal ulceration/inflammation in other diseases 0.00155 1.3664 0.4317 Other pleural conditions 0.0002315 20.313 5.517 PPID rs61756415 4:158715678:C:T 4 158715678 C T 4:159636830 0.992014 8848 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebrovascular diseases (FINNGEN) 0.000385 0.2016 0.0568 Pure hyperglyceridaemia 0.0013 9.574 2.977 FNIP2 rs147318337 4:158868251:G:C 4 158868251 G C 4:159789403 0.977775 0.010278 58 3718 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Failed attempted abortion 9.83e-05 2.8926 0.7427 Adrenocortical insufficiency 0.0003031 18.523 5.127 FNIP2 rs62001913 4:158868858:G:A 4 158868858 G A 4:159790010 0.960093 1735 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other peripheral vertigo 0.000353 1.2915 0.3615 Eating disorders 0.0006864 7.571 2.23 NPY1R rs5578 4:163325337:T:G 4 163325337 T G 4:164246489 0.937503 789 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn's disease patients in KELA-register (KELA code 209, or 208 with ICD K50) 0.000479 2.4799 0.7101 MSMO1 rs141811636 4:165337829:A:G 4 165337829 A G 4:166258981 0.996881 0.0160756 110 5796 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cough 2.14e-05 0.3213 0.0756 0.0009043 -0.639 0.193 CPE rs142920534 4:165495613:C:T 4 165495613 C T 4:166416765 0.965629 5267 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of vestibular function (Vertigo) 0.00027 0.2986 0.082 0.0007878 6.186 1.843 DDX60 rs114673603 4:168306636:T:C 4 168306636 T C 4:169227787 0.998109 3618 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypermobility syndrome 0.000347 1.1719 0.3276 Chromosomal abnormalities, not elsewhere classified 0.002378 40.43 13.306 PALLD rs116158771 4:168511869:C:T 4 168511869 C T 4:169433020 0.992551 1459 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma of pancreas Vertigo of central origin 0.00072 4.0146 1.1871 Other and unspecified nerve root and plexus disorders, also in other diseases 0.0004743 13.818 3.954 PALLD rs7655494 4:168512175:T:C 4 168512175 T C 4:169433326 0.998912 0.395726 58068 87317 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with ketoacidosis 5.43e-05 0.3588 0.0889 Type 2 diabetes with ketoacidosis 0.0003142 0.306 0.085 PALLD rs7671781 4:168512176:G:A 4 168512176 G A 4:169433327 0.998912 0.395514 58054 87253 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with ketoacidosis 5.23e-05 0.3596 0.0889 Type 2 diabetes with ketoacidosis 0.0003117 0.307 0.085 PALLD rs146018183 4:168512268:G:A 4 168512268 G A 4:169433419 0.980084 0.00231907 4 848 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma of pancreas;not specified Malignant neoplasm of other connective and soft tissue (other cancers excluded from controls) 2.08e-05 6.5999 1.5506 Type 2 diabetes 0 2.113 0 PALLD rs138897963 4:168668190:A:T 4 168668190 A T 4:169589341 0.981829 2277 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma of pancreas;not provided Cerebral cysts 0.000183 1.67 0.4463 Hypersensitivity pneumonitis due to organic dust 0.001526 58.268 18.383 PALLD rs140454899 4:168685497:A:T 4 168685497 A T 4:169606648 0.847394 145 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cerebral cysts 0.000372 8.8631 2.4904 PALLD rs62333891 4:168685498:C:A 4 168685498 C A 4:169606649 0.996873 45664 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other papulosquamous disorders 0.000459 0.6953 0.1984 Generalized epilepsy 0.0008222 0.319 0.095 PALLD rs115372194 4:168690661:G:A 4 168690661 G A 4:169611812 0.98142 1373 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Otitis media, unspecified 0.000145 1.3499 0.3553 PALLD rs138283237 4:168711808:C:T 4 168711808 C T 4:169632959 0.976027 513 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contracture of joint 0.000629 7.1053 2.0784 PALLD rs535155432 4:168878257:G:C 4 168878257 G C 4:169799408 0.969299 2144 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pancreatic adenocarcinoma Meniere disease 0.000364 1.0461 0.2934 Other enthesopathies 0.0003272 6.15 1.712 PALLD rs543821321 4:168878286:G:A 4 168878286 G A 4:169799437 0.857346 1549 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pancreatic adenocarcinoma;not specified Benign neoplasm: Adrenal gland (other cancers excluded from controls) 0.00117 1.8304 0.564 Peroneal tendinitis 0.0002715 182.705 50.179 PALLD rs62333013 4:168878297:A:G 4 168878297 A G 4:169799448 0.995323 73041 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thyrotoxicosis with diffuse goitr 0.00102 0.1288 0.0392 Other diseases of intestine 0.001574 0.108 0.034 NEK1 rs34099167 4:169477303:T:C 4 169477303 T C 4:170398454 0.999612 27705 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Short Rib Polydactyly Syndrome;Short rib-polydactyly syndrome, Majewski type;not specified Open wound of head 0.00225 -0.103 0.0337 Symptoms and signs concerning food and fluid intake 0.0005837 0.718 0.209 NEK1 rs34324114 4:169477323:A:C 4 169477323 A C 4:170398474 0.994874 5674 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Motor neuron disease;Short rib-polydactyly syndrome, Majewski type;not provided;not specified Benign lipomatous neoplasm 0.00106 0.3106 0.0949 Fracture of shoulder and upper arm 8.996e-05 2.209 0.564 NEK1 rs33933790 4:169507750:C:T 4 169507750 C T 4:170428901 0.987937 0.0501677 926 17505 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Short Rib Polydactyly Syndrome;not provided;not specified Malignant neoplasm of testis (other cancers excluded from controls) 2.6e-05 1.1845 0.2816 Schizoid personality disorder 0.000885 2.271 0.683 NEK1 rs34540355 4:169555974:G:A 4 169555974 G A 4:170477125 0.97599 7048 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Short Rib Polydactyly Syndrome;Short rib-polydactyly syndrome, Majewski type;not specified Other specified/unspecified necrotizing vasculopathies 0.000439 1.7352 0.4936 Respiratory insufficiency 0.0006005 5.709 1.664 NEK1 rs189186475 4:169562196:C:T 4 169562196 C T 4:170483347 0.994634 839 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cor triatriatum dexter;Cough;Immunodeficiency;Lymphopenia;Motor neuron disease;Short Rib Polydactyly Syndrome;Short rib-polydactyly syndrome, Majewski type;not provided;not specified Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 0.000374 1.1729 0.3297 Aortic aneurysm 0.002488 30.532 10.094 NEK1 rs200161705 4:169585374:C:T 4 169585374 C T 4:170506525 0.976119 403 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Infective dermatitis 0.000446 2.4618 0.7011 NEK1 rs201350526 4:169599135:T:C 4 169599135 T C 4:170520286 0.995451 1829 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Venous thromboembolism 0.000877 -0.4419 0.1328 Later onset COPD 0.0007703 9.672 2.876 FBXO8 rs61748174 4:174259787:T:C 4 174259787 T C 4:175180938 0.960918 300 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital deformities of hip 0.000553 12.1646 3.5224 HPGD rs148874494 4:174493179:C:T 4 174493179 C T 4:175414330 0.897139 334 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of trunk (other cancers excluded from controls) 0.000394 3.7938 1.0704 HPGD rs779457875 4:174521984:CAG:C 4 174521984 CAG C 4:175443135 0.964453 236 pLoF recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Erythema intertrigo 0.000371 13.9565 3.9201 HPGD rs1338032929 4:174522355:T:TTAC 4 174522355 T TTAC 4:175443506 0.921663 246 LC recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified haematuria 0.00316 1.2898 0.437 AGA rs121964904 4:177438764:C:G 4 177438764 C G 4:178359918 0.993648 2647 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Aspartylglucosaminuria;Aspartylglucosaminuria, finnish type Malnutrition 0.000477 3.0913 0.8849 Traumatic subdural haemorrhage 0.0009184 86.686 26.154 AGA rs192195150 4:177438770:C:T 4 177438770 C T 4:178359924 0.993654 2637 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of ear and external auricular canal 0.000644 1.4952 0.4382 Congenital deformities of feet 0.0007478 105.797 31.38 AGA rs76491548 4:177439657:G:T 4 177439657 G T 4:178360811 0.99301 9822 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aspartylglucosaminuria Oesophageal varices 0.00071 0.8236 0.2433 0.0009353 2.975 0.899 AGA rs74626221 4:177442342:C:A 4 177442342 C A 4:178363496 0.939727 2399 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aspartylglucosaminuria;not provided Disorders of vitreous body and globe 0.00187 0.3881 0.1248 Effects of other external causes 0.004806 21.865 7.754 TENM3 rs147269509 4:182680666:G:C 4 182680666 G C 4:183601819 0.902388 1046 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (multiple infarctations) 0.000702 4.1175 1.215 Diabetic maculopathy (more controls excluded) 0.0001316 17.611 4.606 TRAPPC11 rs141909783 4:183664012:G:C 4 183664012 G C 4:184585165 0.984818 3755 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Limb-girdle muscular dystrophy, type 2S;not specified Impotence 0.000282 1.3458 0.3707 Non-small cell lung cancer, squamous 8.273e-05 32.186 8.177 TRAPPC11 rs779673117 4:183684737:G:T 4 183684737 G T 4:184605890 0.852121 73 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cholelithiasis 0.000914 1.6164 0.4875 TRAPPC11 rs67383011 4:183691400:G:C 4 183691400 G C 4:184612553 0.992334 0.0650239 1674 22215 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hypertensive Renal Disease 2.61e-07 0.8245 0.1601 Hypertensive Renal Disease 0.0007323 1.636 0.484 TRAPPC11 rs62358032 4:183693964:A:C 4 183693964 A C 4:184615117 0.995609 34068 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Motor disorders (more controls excluded) 0.000158 -0.779 0.2062 Polyhydramnios 0.002472 0.815 0.269 TRAPPC11 rs75176151 4:183694013:T:C 4 183694013 T C 4:184615166 0.965058 2765 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Limb-girdle muscular dystrophy, type 2S;not specified Other specified disorders of external ear 0.000181 1.9771 0.528 Mental and behabioural disorders of puerperum, not classified elsewhere (more controls excluded) 0.0006576 106.644 31.305 TRAPPC11 rs201868142 4:183694038:G:A 4 183694038 G A 4:184615191 0.95335 461 LC recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Skin changes due to chronic exposure to nonionizing radiation 0.00107 1.1676 0.3569 TRAPPC11 rs62617790 4:183697783:G:C 4 183697783 G C 4:184618936 0.981577 40311 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma/COPD-related acute respiratory infections 0.0036 0.0396 0.0136 Congenital malformations of great arteries 0.000165 1.24 0.329 TRAPPC11 rs79804817 4:183705034:G:A 4 183705034 G A 4:184626187 0.982818 933 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other external causes of accidental injury 0.000124 1.6221 0.4226 TRAPPC11 rs200466260 4:183706843:C:G 4 183706843 C G 4:184627996 0.985535 380 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Otitis externa, unspecified 0.00196 2.6326 0.8501 C4orf47 rs759142011 4:185445023:TG:T 4 185445023 TG T 4:186366177 0.948778 6898 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anaemia in chronic diseases classified elsewhere 0.000135 2.2469 0.5887 Alopecia areata 0.0006939 13.21 3.894 PDLIM3 rs62347360 4:185506581:G:A 4 185506581 G A 4:186427735 0.989668 15065 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Hypertrophic cardiomyopathy;Primary dilated cardiomyopathy;not provided;not specified Ectropion of eyelid 0.000192 0.7606 0.204 Carcinoma in situ of skin of other and unspecified parts of face (other cancers excluded from controls) 0.0002197 2.757 0.746 TLR3 rs143307508 4:186076795:C:A 4 186076795 C A 4:186997949 0.954844 283 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diseases of the ear and mastoid process 0.000512 0.5257 0.1513 Hepatomegaly and splenomegaly, not elsewhere classified 0.0003779 198.363 55.798 TLR3 rs35311343 4:186082575:C:G 4 186082575 C G 4:187003729 0.97144 437 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter severe traumatic brain injury, does not include concussion 0.000666 1.6617 0.4883 TLR3 rs3775291 4:186082920:C:T 4 186082920 C T 4:187004074 0.999845 0.315326 36618 79229 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism,other/unspecified 3.11e-07 -0.0658 0.0129 Disorders of the thyroid gland 4.972e-06 -0.059 0.013 TLR3 rs199768900 4:186084758:G:A 4 186084758 G A 4:187005912 0.991889 0.00680752 22 2479 missense_variant both risk factor risk factor no assertion criteria provided no_Criteria Herpes simplex encephalitis 2 Disorders of the thyroid gland 1.1e-05 -0.2943 0.067 0.000147 20.888 5.503 CYP4V2 rs1055138 4:186191887:C:G 4 186191887 C G 4:187113041 0.994689 91103 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cervicalgia 0.000372 -0.1014 0.0285 Other and unspecified glaucoma 0.0009009 0.181 0.055 CYP4V2 rs61745524 4:186197538:G:A 4 186197538 G A 4:187118692 0.993607 586 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Gluteal tendinitis 0.000628 5.1664 1.511 CYP4V2 rs13146272 4:186199057:C:A 4 186199057 C A 4:187120211 0.99987 0.667853 164276 81085 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter DVT of lower extremities and pulmonary embolism 1.83e-10 0.1304 0.0205 DVT of lower extremities and pulmonary embolism 3.98e-10 0.086 0.014 CYP4V2 rs34745240 4:186201178:G:A 4 186201178 G A 4:187122332 0.975127 6865 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bietti crystalline corneoretinal dystrophy;Corneal Dystrophy, Recessive;not specified Any death 0.000105 -0.2107 0.0543 Other specific joint derangements/joint disorders 0.0004807 0.971 0.278 KLKB1 rs3733402 4:186236880:G:A 4 186236880 G A 4:187158034 0.999945 0.575816 122208 89340 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting no assertion criteria provided no_Criteria DVT of lower extremities and pulmonary embolism 3.42e-13 0.1414 0.0194 Venous thromboembolism 3.74e-08 0.075 0.014 F11 rs121965070 4:186280065:A:T 4 186280065 A T 4:187201219 0.989316 457 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Primary coxarthrosis, bilateral 0.00186 1.2124 0.3897 FAT1 rs192609167 4:186588777:C:T 4 186588777 C T 4:187509931 0.958784 6001 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behabioural disorders of puerperum, not classified elsewhere (more controls excluded) 0.0014 1.7366 0.5437 Vitamin D deficiency 0.0001276 27.278 7.12 FAT1 rs116628547 4:186597720:G:A 4 186597720 G A 4:187518874 0.90345 1246 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pyogenic arthritis 0.000394 1.7471 0.493 Counselling related to sexual attitude, behaviour and orientation 0.000274 241.783 66.447 FAT1 rs188733415 4:186613132:A:C 4 186613132 A C 4:187534286 0.997067 594 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vertical strabismus 0.00029 4.9369 1.3623 Hypertrophic scar 0.001171 69.476 21.404 FAT1 rs138948513 4:186618051:C:T 4 186618051 C T 4:187539205 0.98281 135 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autism spe (more controls excluded) 0.00048 29.855 8.5503 FAT1 rs116784674 4:186618886:C:T 4 186618886 C T 4:187540040 0.89141 1044 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified bacterial intestinal infections 0.000247 2.2748 0.6207 FAT1 rs183343406 4:186621745:G:A 4 186621745 G A 4:187542899 0.956244 280 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other, unspecified and serous retinal detachments 0.000662 7.9256 2.3278 FAT1 rs111886222 4:186628210:G:A 4 186628210 G A 4:187549364 0.982909 7701 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative proctitis 0.000339 0.7078 0.1975 Non-allergic asthma 3.101e-05 2.471 0.593 FAT1 rs113970444 4:186636754:C:T 4 186636754 C T 4:187557908 0.98219 7692 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative proctitis 0.000326 0.7114 0.1979 Non-allergic asthma 2.827e-05 2.506 0.599 FAT1 rs200633985 4:186663376:G:A 4 186663376 G A 4:187584530 0.97896 4109 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to life-management difficulty 0.000379 0.7492 0.2108 Orchitis and epididymitis 0.001357 8.146 2.543 FAT1 rs61733573 4:186708945:C:T 4 186708945 C T 4:187630099 0.930681 300 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nail disorders 0.000121 4.7057 1.2243 SDHA rs34635677 5:223531:A:T 5 223531 A T 5:223646 0.96841 9366 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Mitochondrial complex II deficiency;Paragangliomas 5;Pheochromocytoma;not provided;not specified Other diabetic retinopathy 0.000192 0.6236 0.1672 Melanoma in situ 9.997e-05 6.745 1.734 SDHA rs6960 5:254484:A:T 5 254484 A T 5:254599 0.996413 29910 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Mitochondrial complex II deficiency;Paragangliomas 5;Pheochromocytoma;not specified Barret oesophagus 0.000894 -0.4638 0.1396 Unspecified chronic bronchitis 7.906e-05 1.405 0.356 SDHA rs11557098 5:256336:C:T 5 256336 C T 5:256451 0.918577 111 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes with renal complications 0.000338 8.2869 2.3121 SDHA rs6962 5:256394:G:A 5 256394 G A 5:256509 0.997063 29929 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Leigh syndrome;Mitochondrial complex II deficiency;Pheochromocytoma;not provided;not specified Barret oesophagus 0.000875 -0.4643 0.1395 Unspecified chronic bronchitis 7.765e-05 1.408 0.356 AHRR rs147880563 5:434169:C:T 5 434169 C T 5:434284 0.908577 1917 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paranoid personality disorder 0.000691 2.2999 0.6778 Hypotension 4.788e-05 10.639 2.617 SLC9A3 rs41282627 5:477393:C:T 5 477393 C T 5:477508 0.9894 336 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertensive diseases (excluding secondary) 0.00105 0.6266 0.1913 Hyperaldosteronism 0.000802 95.859 28.597 NKD2 rs141899564 5:1034760:T:A 5 1034760 T A 5:1034875 0.852348 4.89945e-05 0 18 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to opioids 5.33e-06 191.7125 42.124 NKD2 rs137977762 5:1035404:G:A 5 1035404 G A 5:1035519 0.969714 8434 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of cervix uteri 0.000166 1.3135 0.3488 Plantar fascial fibromatosis 0.0001832 3.344 0.894 NKD2 rs35433301 5:1037960:C:T 5 1037960 C T 5:1038075 0.913881 627 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erosion and ectropion of cervix uteri 0.000355 4.0815 1.1429 SLC12A7 rs148501261 5:1077858:C:T 5 1077858 C T 5:1077973 0.93742 441 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter !!!Vapaa-ajan tapaturmat 0.000598 11.7048 3.41 SLC12A7 rs61733461 5:1083822:G:A 5 1083822 G A 5:1083937 0.93761 0.000310299 0 114 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Habitual aborter 8.72e-05 21.6584 5.5198 SLC6A19 rs7732589 5:1213553:G:A 5 1213553 G A 5:1213668 0.995924 41456 missense_variant both Likely benign (likely)Benign no assertion criteria provided no_Criteria Other female pelvic inflammatory diseases 0.000304 -0.1638 0.0453 Endometriosis of intestine 0.0003427 1.641 0.458 SLC6A19 rs140296083 5:1216654:C:T 5 1216654 C T 5:1216769 0.931701 1862 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis of hip 0.000456 3.1632 0.9023 Hypothyroidism, drug reimbursement 2.354e-07 6.312 1.221 SLC6A19 rs4975629 5:1216660:A:G 5 1216660 A G 5:1216775 0.986886 8168 missense_variant both Likely benign (likely)Benign no assertion criteria provided no_Criteria Prolapse and hernia of ovary and fallopian tube 0.00178 -0.5992 0.1917 Prolapse and hernia of ovary and fallopian tube 0.001133 -0.319 0.098 SLC6A19 rs142979576 5:1216947:T:G 5 1216947 T G 5:1217062 0.915537 380 pLoF both Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Paroxysmal tachycardia 0.000548 1.3989 0.4048 TERT rs200288187 5:1254406:C:T 5 1254406 C T 5:1254521 0.944419 356 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other abnormal immunological findings in serum 0.00134 8.676 2.7054 TERT rs35719940 5:1254479:C:T 5 1254479 C T 5:1254594 0.975717 5226 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Aplastic anemia;Dyskeratosis Congenita, Recessive;Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form;Idiopathic fibrosing alveolitis, chronic form;Leukemia, acute myeloid, susceptibility to;not specified Headache 0.000264 0.2331 0.0639 Cardiac arrest 0.0005574 11.181 3.239 TERT rs140124989 5:1268585:C:T 5 1268585 C T 5:1268700 0.94725 1681 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aplastic anemia;Dyskeratosis Congenita, Recessive;Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form;Idiopathic fibrosing alveolitis, chronic form;not specified Cholelithiasis, broad definition with cholecystitis 0.00129 -0.3258 0.1012 Dislocation, sprain and strain of joints and ligaments at ankle and foot level 0.003451 6.623 2.265 TERT rs770066110 5:1272247:G:A 5 1272247 G A 5:1272362 0.873296 0.000530774 0 195 pLoF both Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Idiopathic pulmonary fibrosis (attempt to specificity) 2.07e-07 7.3807 1.4212 TERT rs377639087 5:1293560:GTCC:G 5 1293560 GTCC G 5:1293675 0.931825 256 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertrophic scar 0.000702 5.3647 1.583 TERT rs34094720 5:1293652:G:A 5 1293652 G A 5:1293767 0.990676 519 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Artificial opening status 0.000769 4.9337 1.4668 TERT rs61748181 5:1294051:C:T 5 1294051 C T 5:1294166 0.991496 18554 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aplastic anemia;Dyskeratosis Congenita, Recessive;Dyskeratosis congenita, autosomal dominant, 2;Idiopathic fibrosing alveolitis, chronic form;Idiopathic fibrosing alveolitis, chronic form;not specified Burn and corrosion of ankle and foot 0.000204 1.0878 0.2929 Persons encountering health services in circumstances related to reproduction 0.0002791 -0.25 0.069 CLPTM1L rs200467747 5:1341688:C:T 5 1341688 C T 5:1341803 0.842912 0.000296689 0 109 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other reactioin to severe stress, and adjustment disorders 3.59e-05 3.0448 0.7368 SLC6A3 rs71653633 5:1432618:G:A 5 1432618 G A 5:1432733 0.989063 614 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertension, essential 0.000268 0.4879 0.1339 NDUFS6 rs192286856 5:1814409:C:T 5 1814409 C T 5:1814523 0.987928 0.00140995 6 512 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Benign neoplasm of urinary organs 7.37e-05 5.2768 1.3312 0.0008907 -2.616 0.787 NDUFS6 rs200985438 5:1814470:C:A 5 1814470 C A 5:1814584 0.976794 835 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rotator cuff syndrome 0.000117 0.6689 0.1736 Congenital malformations of the urinary system 0.001068 80.091 24.478 NDUFS6 rs4147773 5:1814669:T:C 5 1814669 T C 5:1814783 0.998544 33541 stop_lost recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases caused by chlamydiae 0.00112 -0.6623 0.2032 Other and unspecified degenerative diseases of nervous system 0.001611 0.3 0.095 ADAMTS16 rs68077031 5:5239196:G:A 5 5239196 G A 5:5239309 0.950332 1573 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries of upper limb 0.000451 1.2719 0.3626 Rheumatic valve diseases 0.0003544 203.767 57.047 ICE1 rs72646675 5:5441201:A:G 5 5441201 A G 5:5441314 0.995082 3431 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acquired absence of organs, not elsewhere classified 0.000318 3.3716 0.9365 Endocrine, nutritional and metabolic diseases 0.0003306 -1.01 0.281 NSUN2 rs140673211 5:6599930:C:T 5 6599930 C T 5:6600043 0.925599 1586 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided;not specified Injury of nerves and spinal cord at neck level 0.00238 2.9922 0.9847 0.0008297 202.826 60.677 NSUN2 rs61744358 5:6599951:G:T 5 6599951 G T 5:6600064 0.986552 0.0411146 664 14441 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Intellectual Disability, Recessive;not specified Other extrapyramidal and movement disorders+ in other diseases 1.41e-05 0.4007 0.0923 Acute peritonitis 0.0004766 2.205 0.631 NSUN2 rs149244771 5:6599958:A:G 5 6599958 A G 5:6600071 0.980263 599 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Focal brain injury 0.000627 2.5768 0.7535 NSUN2 rs112951498 5:6600087:C:T 5 6600087 C T 5:6600200 0.899972 560 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specified disorders of muscle 0.000986 4.2434 1.2881 NSUN2 rs13181449 5:6604674:C:T 5 6604674 C T 5:6604787 0.996907 57347 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of conjunctiva 0.000304 0.0612 0.0169 Dislocation of lens 6.589e-06 1.186 0.263 MTRR rs1801394 5:7870860:A:G 5 7870860 A G 5:7870973 0.999608 0.580264 123610 89572 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Other diseases of spinal cord 6.65e-05 0.3399 0.0852 Other diseases of spinal cord 0.0004222 0.222 0.063 MTRR rs1532268 5:7878066:C:T 5 7878066 C T 5:7878179 0.994678 81107 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy, Hypertrophic obstructive 0.000233 0.3523 0.0957 Other nutritional anaemias 0.0003128 0.586 0.162 MTRR rs2303080 5:7878311:T:A 5 7878311 T A 5:7878424 0.9977 22570 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of Intracellular Cobalamin Metabolism;Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type;not specified Cerebral palsy 0.00241 0.5946 0.196 Complications of cardiac and vascular prosthetic devices, implants and grafts 0.0008038 2.429 0.725 MTRR rs144899305 5:7883243:T:C 5 7883243 T C 5:7883356 0.921844 0.000568881 0 209 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Paralytic ileus 3.38e-05 10.1423 2.4461 MTRR rs162036 5:7885846:A:G 5 7885846 A G 5:7885959 0.998544 25019 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of Intracellular Cobalamin Metabolism;Gastrointestinal stroma tumor;not specified Disorders of synovium and tendon in diseases classified elsewhere 0.000369 0.7116 0.1998 Follicular lymphoma (other cancers excluded from controls) 0.0004986 1.527 0.439 MTRR rs1215524724 5:7886646:ATGT:A 5 7886646 ATGT A 5:7886759 0.972707 1248 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Lesion of ulnar nerve 0.000565 1.1675 0.3386 MTRR rs2287779 5:7889103:G:A 5 7889103 G A 5:7889216 0.998621 22760 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of Intracellular Cobalamin Metabolism;not specified Injury of nerves at wrist and hand level 0.00205 -0.4278 0.1388 Complications of cardiac and vascular prosthetic devices, implants and grafts 0.0008285 2.41 0.721 MTRR rs149678769 5:7889130:C:G 5 7889130 C G 5:7889243 0.93654 177 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Metatarsalgia 0.000882 4.7313 1.4227 MTRR rs2287780 5:7889191:C:T 5 7889191 C T 5:7889304 0.998695 22762 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of Intracellular Cobalamin Metabolism;not specified Injury of nerves at wrist and hand level 0.00205 -0.4279 0.1388 Complications of cardiac and vascular prosthetic devices, implants and grafts 0.0008275 2.411 0.721 MTRR rs16879334 5:7891393:C:G 5 7891393 C G 5:7891506 0.997139 22891 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of Intracellular Cobalamin Metabolism;not specified Injury of nerves at wrist and hand level 0.00268 -0.4148 0.1382 Complications of cardiac and vascular prosthetic devices, implants and grafts 0.0009373 2.334 0.705 MTRR rs41283145 5:7892824:A:G 5 7892824 A G 5:7892937 0.967454 5896 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type;not provided Other and unspecified visual disturbances 0.00165 0.7169 0.2278 Dependent personality disorder 0.0004142 16.925 4.794 MTRR rs10380 5:7897078:C:T 5 7897078 C T 5:7897191 0.99876 23001 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of Intracellular Cobalamin Metabolism;Gastrointestinal stroma tumor;not specified Alzheimer's disease (Early onset) 0.000348 0.4627 0.1293 Follicular lymphoma (other cancers excluded from controls) 0.0005591 1.735 0.503 MTRR rs148909799 5:7899943:A:G 5 7899943 A G 5:7900056 0.97964 326 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Postprocedural disorders of digestive system, not elsewhere classified 0.000772 6.8632 2.041 MTRR rs148414435 5:7900032:C:T 5 7900032 C T 5:7900145 0.957795 160 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other eating disorders 0.00214 4.7432 1.5452 CCT5 rs2548546 5:10250318:G:A 5 10250318 G A 5:10250430 0.992536 42448 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic urticaria 0.000351 -0.5972 0.1671 Other disorders of eyelid 0.0006129 -0.058 0.017 CCT5 rs2578618 5:10250331:T:C 5 10250331 T C 5:10250443 0.992522 42446 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic urticaria 0.000351 -0.5973 0.1671 Other disorders of eyelid 0.0006118 -0.058 0.017 CCT5 rs11557652 5:10256060:A:T 5 10256060 A T 5:10256172 0.988262 9730 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive;Sensory Neuropathy with Spastic Paraplegia;not specified Hypertensive diseases 0.00053 -0.1049 0.0303 Pemphigoid 0.0003697 6.843 1.922 CCT5 rs141675330 5:10261652:C:G 5 10261652 C G 5:10261764 0.982097 3248 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive;Sensory Neuropathy with Spastic Paraplegia Benign neoplasm: Short bones of upper limb (other cancers excluded from controls) 0.000127 2.8216 0.7362 Perineal laceration during delivery 9.671e-05 7.827 2.008 CTNND2 rs142843736 5:11346480:T:G 5 11346480 T G 5:11346592 0.964076 0.00179919 4 657 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Other/unspecified enthesopathies, not elsewhere classified 6.59e-05 2.3643 0.5924 Corneal scars and opacities 0.0006777 117.223 34.493 DNAH5 rs3734110 5:13701427:T:C 5 13701427 T C 5:13701536 0.99889 91425 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Delivery 0.000109 0.0399 0.0103 Delivery 0.0004084 0.029 0.008 DNAH5 rs2277046 5:13717362:T:C 5 13717362 T C 5:13717471 0.992854 44407 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary parkinsonism (more controls excluded) 0.000477 0.4908 0.1405 Unspecified fall 8.868e-05 1.615 0.412 DNAH5 rs30168 5:13718980:G:A 5 13718980 G A 5:13719089 0.999981 81246 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ganglion 0.00108 0.0908 0.0278 Other menopausal disorders 0.001034 -0.175 0.053 DNAH5 rs17263496 5:13737335:G:A 5 13737335 G A 5:13737444 0.995331 56612 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dermatitis due to substances taken internally 0.000503 -0.2196 0.0631 In situ neoplasms (other cancers excluded from controls) 0.001664 0.178 0.057 DNAH5 rs149489069 5:13777347:T:A 5 13777347 T A 5:13777456 0.989362 0.003514 4 1287 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Drug-induced osteoporosis with pathological fracture 5.19e-05 6.9415 1.7153 Hypertension, essential 0 2.095 0 DNAH5 rs115776799 5:13786242:C:G 5 13786242 C G 5:13786351 0.985147 3231 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified Benign neoplasm: Connective and other soft tissue of head, face and neck 0.000241 2.2846 0.6222 Non-small cell lung cancer, squamous 0.002811 34.129 11.423 DNAH5 rs10513155 5:13788777:C:A 5 13788777 C A 5:13788886 0.99101 62449 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neurological diseases 0.000141 -0.0345 0.0091 Other complications of labour and delivery, not elsewhere classified 0.0001076 0.343 0.089 DNAH5 rs10078391 5:13811666:T:C 5 13811666 T C 5:13811775 0.999608 56846 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other reactioin to severe stress, and adjustment disorders 0.000373 0.0893 0.0251 Obstructive hydrocephalus 0.0006911 0.885 0.261 DNAH5 rs764973765 5:13830747:C:T 5 13830747 C T 5:13830856 0.922762 175 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other hammer toe(s) (acquired) 0.000493 2.6185 0.7514 DNAH5 rs771222700 5:13839462:C:T 5 13839462 C T 5:13839571 0.908167 0.000413732 0 152 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Contusion of toe(s) without damage to nail 4.84e-05 26.2576 6.462 DNAH5 rs116524991 5:13844842:C:T 5 13844842 C T 5:13844951 0.98831 1170 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other conjunctival vascular disorders and cysts 0.00028 4.0255 1.1079 DNAH5 rs141168110 5:13871648:G:T 5 13871648 G T 5:13871757 0.979717 1525 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;Ciliary dyskinesia, primary, 3;not specified Otalgia 0.000476 1.7676 0.5059 Other/unspecified cytomegaloviral diseases 0.0002242 314.506 85.231 DNAH5 rs199698421 5:13885081:T:A 5 13885081 T A 5:13885190 0.961062 627 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Brachial plexus disorders 0.000806 2.0276 0.6051 DNAH5 rs149654950 5:13891110:A:T 5 13891110 A T 5:13891219 0.963497 836 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Causalgia 0.000299 4.8934 1.3531 Examination and encounter for administrative purposes 0.001003 83.862 25.493 DNAH5 rs4701997 5:13894785:T:A 5 13894785 T A 5:13894894 0.994821 90928 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autism spe (more controls excluded) 0.000163 -0.432 0.1146 Inflammation of lacrimal passages (chronic) 0.0003446 0.328 0.092 DNAH5 rs115004914 5:13900212:G:T 5 13900212 G T 5:13900321 0.997552 1047 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified Invasive ventilation 0.000441 2.7781 0.7905 Open wound of head 0.0019 6.887 2.218 DNAH5 rs1530498 5:13902111:T:C 5 13902111 T C 5:13902220 0.99551 86822 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dermatitis herpetiformis 0.00086 -0.3304 0.0991 Sequelae of cerebrovascular disease 0.0006041 -0.086 0.025 DNAH5 rs139160176 5:13902136:G:C 5 13902136 G C 5:13902245 0.978496 1231 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;Ciliary dyskinesia, primary, 3;not specified Viral infections of the central nervous system 0.000602 1.7387 0.5068 Atypical mycobacterium lung infection 0.0005007 153.209 44.021 DNAH5 rs201469505 5:13916419:C:A 5 13916419 C A 5:13916528 0.93434 732 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of pigmentation 0.000608 3.2125 0.9371 Synovial hypertrophy, not elsewhere classified 0.0001777 378.716 101.026 DNAH5 rs201077964 5:13919189:G:A 5 13919189 G A 5:13919298 0.952326 226 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Open wound of hip and thigh 0.000113 11.4323 2.9609 DNAH5 rs1530496 5:13931231:C:T 5 13931231 C T 5:13931340 0.997619 73421 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other bursitis of knee 0.00167 0.4333 0.1379 Pleural effusion 0.0006786 0.173 0.051 DNAH5 rs339445 5:13944403:A:C 5 13944403 A C 5:13944512 0.996804 8372 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis of intestine 0.000368 -1.8446 0.5179 Dizziness and giddiness 0.0004043 -0.083 0.023 TRIO rs141648983 5:14482727:A:G 5 14482727 A G 5:14482836 0.985857 623 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intussusception 0.00147 5.7929 1.8209 TRIO rs55900671 5:14508238:A:T 5 14508238 A T 5:14508347 0.979623 511 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of male genital organs 0.000112 0.6664 0.1725 OTULIN rs147790160 5:14681484:G:T 5 14681484 G T 5:14681593 0.888196 309 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy, Hypertrophic obstructive 0.00161 8.1223 2.5757 ANKH rs112513380 5:14713572:C:T 5 14713572 C T 5:14713681 0.956539 239 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes with coma 0.0011 3.344 1.0243 ANKH rs148228793 5:14716805:C:T 5 14716805 C T 5:14716914 0.945524 428 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Hypertrophy of breast 0.000209 2.0865 0.5628 Disorders of porphyrin and bilirubin metabolism 0.0002327 303.961 82.584 ANKH rs146886108 5:14751196:C:T 5 14751196 C T 5:14751305 0.864068 255 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Localized swelling, mass and lump of skin and subcutaneous tissue 0.000435 1.7379 0.494 FAM134B rs143878016 5:16481072:C:T 5 16481072 C T 5:16481181 0.941882 0.00342962 10 1250 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIB;not specified Other symptoms and signs involving the circulatory and respiratory systems 5.02e-05 2.6202 0.6462 Idiopathic thrombocytopenic purpura 0.001462 60.045 18.869 FAM134B rs78314670 5:16572044:G:A 5 16572044 G A 5:16572153 0.9757 5772 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary sensory and autonomic neuropathy type IIB;not provided;not specified Inguinal hernia 0.000373 0.2018 0.0567 Burn and corrosion of trunk 0.0004933 15.894 4.562 MYO10 rs61744227 5:16676138:G:A 5 16676138 G A 5:16676247 0.996221 5067 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other inflammation of vagina/vulva 0.000261 1.1772 0.3224 Persons encountering health services in other circumstances 0.0009355 2.172 0.656 MYO10 rs112696559 5:16701687:A:G 5 16701687 A G 5:16701796 0.988768 4696 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other inflammation of vagina/vulva 0.000157 1.2958 0.3429 Benign neoplasm: Adrenal gland 0.001275 9.335 2.898 MYO10 rs201115810 5:16818109:G:A 5 16818109 G A 5:16818218 0.98825 334 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polycystic ovarian syndrome 0.00147 4.0952 1.2876 CDH9 rs34490509 5:26885688:T:C 5 26885688 T C 5:26885797 0.964921 765 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hallux rigidus 0.000281 1.4807 0.4076 Separation of retinal layers (serosa) 0.0007082 114.42 33.788 DROSHA rs149389256 5:31526685:G:A 5 31526685 G A 5:31526792 0.938184 1293 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Age-related macular degeneration (whether dry or wet) 0.000296 0.8977 0.2481 Atopic dermatitis 0.0001023 8.102 2.085 DROSHA rs201445638 5:31526767:G:A 5 31526767 G A 5:31526874 0.925108 2256 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ingrowing nail 0.000259 1.5564 0.426 Malignant neoplasm of urinary organs 0.0007871 16.971 5.055 PDZD2 rs116598198 5:31799264:G:A 5 31799264 G A 5:31799371 0.976757 5881 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons with potential health hazards related to communicable diseases 0.00117 0.492 0.1516 Granuloma annulare 0.0002259 21.421 5.808 PDZD2 rs139754344 5:32074075:C:T 5 32074075 C T 5:32074181 0.934688 158 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of radial nerve 0.000912 9.0764 2.7369 TARS rs138936240 5:33462107:G:A 5 33462107 G A 5:33462212 0.962185 2104 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspefcified behauvioural syndromes associated with physiological disturbances and physical factors +Phsyiological and behauvioural factors associated with disorders of diseases classified elsewhere 0.000821 2.7795 0.8308 Examination and encounter for administrative purposes 0.00109 68.647 21.018 SLC45A2 rs16891982 5:33951588:C:G 5 33951588 C G 5:33951693 0.970832 0.981279 353786 6724 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of skin 1.28e-07 0.3556 0.0673 Malignant neoplasm of skin 5.865e-08 0.185 0.034 SLC45A2 rs2287949 5:33954406:T:C 5 33954406 T C 5:33954511 0.977709 1477 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Volume depletion 0.000146 -1.9734 0.5195 Volume depletion 0.0001356 -0.995 0.261 SLC45A2 rs26722 5:33963765:C:T 5 33963765 C T 5:33963870 0.970105 0.0126052 68 4563 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oculocutaneous albinism;Skin/hair/eye pigmentation, variation in, 5;not specified Malignant neoplasm of skin 9.86e-07 -0.4029 0.0823 Endocarditis 0.0001923 20.16 5.406 SLC45A2 rs146802593 5:33963973:C:G 5 33963973 C G 5:33964078 0.908906 584 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Radiation-related disorders of the skin and subcutaneous tissue 0.000721 1.0125 0.2994 AMACR rs2278008 5:33989413:C:T 5 33989413 C T 5:33989518 0.991735 0.756582 210568 67391 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of eyelid, lacrimal system and orbit 3.87e-05 -0.0655 0.0159 Disorders of eyelid, lacrimal system and orbit 0.0003461 -0.035 0.01 AMACR rs34677 5:33998663:C:A 5 33998663 C A 5:33998768 0.999916 46637 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Causalgia 0.000639 0.5469 0.1602 Injury of other and unspecified intrathoracic organs 0.0003492 0.518 0.145 AMACR rs200253417 5:33998777:C:T 5 33998777 C T 5:33998882 0.985349 2195 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.000138 3.9023 1.024 Congenital malformations of the musculoskeletal system, not elsewhere classified 0.0003512 192.526 53.864 AMACR rs2287939 5:33998778:A:G 5 33998778 A G 5:33998883 0.9981 0.734646 198522 71378 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Specific development disorders of scholastic skills 4.19e-05 0.3305 0.0807 Specific development disorders of scholastic skills 9.846e-05 0.196 0.05 AMACR rs10941112 5:34004602:C:T 5 34004602 C T 5:34004707 0.999939 90690 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cervical root disorders 0.000171 -0.5261 0.14 Malignant neoplasm of oesophagus (other cancers excluded from controls) 3.412e-05 0.33 0.08 AMACR rs3195676 5:34007995:C:T 5 34007995 C T 5:34008100 0.999838 90665 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cervical root disorders 0.000166 -0.5271 0.14 Malignant neoplasm of oesophagus (other cancers excluded from controls) 3.5e-05 0.329 0.08 DNAJC21 rs144600070 5:34944907:G:A 5 34944907 G A 5:34945012 0.930178 2078 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified acute lower respiratory infection 0.000444 0.8663 0.2466 0.003192 -7.138 2.421 DNAJC21 rs149499554 5:34949597:G:T 5 34949597 G T 5:34949702 0.863711 765 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of urinary organs (other cancers excluded from controls) 0.000617 3.3933 0.991 AGXT2 rs114286107 5:35012953:C:T 5 35012953 C T 5:35013058 0.998673 10890 pLoF recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Obesity related asthma 0.000444 0.2692 0.0766 Gastric ulcer 0.0006312 1.442 0.422 AGXT2 rs37369 5:35037010:C:T 5 35037010 C T 5:35037115 0.992539 33753 missense_variant recessive Affects association no assertion criteria provided no_Criteria Respiratory insufficiency 0.000157 0.3728 0.0986 Hyperaldosteronism 0.0001873 1.431 0.383 PRLR rs72478580 5:35072610:T:G 5 35072610 T G 5:35072712 0.995228 9219 missense_variant both Conflicting interpretations of pathogenicity Conflicting no assertion criteria provided no_Criteria Multiple fibroadenomas of the breast Paroxysmal tachycardia 0.00125 0.2484 0.077 Long labour 0.000125 2.238 0.583 SPEF2 rs6897513 5:35641480:A:C 5 35641480 A C 5:35641582 0.997074 91630 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Respiratory conditions due to other external agents 0.000734 0.4099 0.1214 Benign neoplasm: Peripheral nerves and autonomic nervous system 3.975e-05 0.374 0.091 SPEF2 rs139580877 5:35667166:G:A 5 35667166 G A 5:35667268 0.981319 1698 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Diseases of spleen 0.000259 4.799 1.3136 Asthma/COPD-related acute respiratory infections 0.0003533 2.037 0.57 SPEF2 rs34708521 5:35670201:G:A 5 35670201 G A 5:35670303 0.99599 23789 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Osteomyelitis 0.000255 0.4059 0.111 Flat foot [pes planus] (acquired) 0.0005107 0.921 0.265 SPEF2 rs7710284 5:35692673:T:A 5 35692673 T A 5:35692775 0.997162 0.191332 13530 56763 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified acne 3.1e-05 0.7425 0.1783 Mental and behavioural disorders due to use of other stimulants, including caffeine 0.0001343 0.573 0.15 SPEF2 rs13170082 5:35708993:C:T 5 35708993 C T 5:35709095 0.999556 64065 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast 0.000428 -0.1733 0.0492 Need for immunization against other single viral diseases 0.0003697 -0.227 0.064 SPEF2 rs13170390 5:35709082:G:C 5 35709082 G C 5:35709184 0.999678 64063 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast 0.000423 -0.1735 0.0492 Need for immunization against other single viral diseases 0.0003718 -0.227 0.064 IL7R rs1494558 5:35860966:T:C 5 35860966 T C 5:35861068 0.999952 0.724517 193056 73123 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Appendicitis, broad definition 5.42e-06 0.0649 0.0143 Dermatitis and eczema 0.000127 -0.034 0.009 IL7R rs1494555 5:35871088:G:A 5 35871088 G A 5:35871190 0.999941 0.735157 198848 71240 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Appendicitis, broad definition 1.7e-05 0.062 0.0144 Benign neoplasm of colon, rectum, anus and anal canal (other cancers excluded from controls) 0.0001274 0.049 0.013 IL7R rs6897932 5:35874473:C:T 5 35874473 C T 5:35874575 0.999996 0.331516 40428 81367 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dermatitis and eczema 6.97e-05 -0.0529 0.0133 Type 1 diabetes with other specified/multiple/unspecified complications 0.0002506 -0.122 0.033 IL7R rs41270321 5:35876149:A:C 5 35876149 A C 5:35876251 0.999269 4813 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified Effects of foreign body entering through natural orifice 0.000505 0.3922 0.1128 Foreign body in ear 0.0001483 25.511 6.724 IL7R rs3194051 5:35876172:A:G 5 35876172 A G 5:35876274 0.99963 0.29336 31912 75865 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes with ophthalmic complications 6.32e-05 0.1407 0.0352 Systemic sclerosis 6.002e-05 0.503 0.125 IL7R rs2229232 5:35876347:C:T 5 35876347 C T 5:35876449 0.998813 3798 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Severe Combined Immune Deficiency;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive;not specified Exfoliative dermatitis 0.000131 3.1373 0.8203 Ulcerative ileocolitis 0.001067 9.884 3.021 NADK2 rs138373837 5:36219608:C:T 5 36219608 C T 5:36219710 0.965619 3614 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Myositis 0.000894 1.718 0.5172 Other intervertebral disc disorders 6.497e-05 2.301 0.576 NADK2 rs190440332 5:36227517:T:C 5 36227517 T C 5:36227619 0.983238 499 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Prurigo nodularis 0.000249 6.8963 1.8825 SLC1A3 rs199774340 5:36608491:G:A 5 36608491 G A 5:36608593 0.983194 585 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of bone density and structure 0.00202 3.8225 1.238 Kela-cod for severe mental illness 0 23.038 0 SLC1A3 rs2032892 5:36676981:G:C 5 36676981 G C 5:36677083 0.980745 1859 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Episodic ataxia;not specified Chlocystitis 0.000524 0.9123 0.263 Open wound of hip and thigh 0.001373 59.322 18.537 NIPBL rs142923613 5:36962199:G:A 5 36962199 G A 5:36962301 0.997571 6835 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cornelia de Lange Syndrome;not provided;not specified Paraplegia, diplegia of upper limbs 0.00103 1.2548 0.3822 Dissection of aorta 0.0001038 10.074 2.596 NIPBL rs3822471 5:36985201:A:G 5 36985201 A G 5:36985303 0.999086 40680 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other congenital malformations of circulatory system 0.000469 0.4888 0.1397 0.002098 -0.059 0.019 C5orf42 rs147426388 5:37138834:G:A 5 37138834 G A 5:37138936 0.853805 0.000307577 0 113 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Medial epicondylitis 8.81e-05 13.5607 3.4584 C5orf42 rs77014998 5:37153769:G:T 5 37153769 G T 5:37153871 0.982891 0.0071532 26 2602 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Joubert syndrome;Joubert syndrome 17;Joubert syndrome 17;Orofaciodigital syndrome 6;not specified Lower back pain or/and sciatica 1.21e-05 0.3203 0.0732 Drug-induced osteoporosis with pathological fracture 0.001214 67.96 21.004 C5orf42 rs111294855 5:37157382:C:T 5 37157382 C T 5:37157484 0.972868 741 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other appendicitis 0.000483 1.9917 0.5707 C5orf42 rs34737149 5:37169119:G:A 5 37169119 G A 5:37169221 0.986636 0.000557993 0 205 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dependence on enabling machines and devices, not elsewhere classified 5.89e-05 24.4467 6.0853 C5orf42 rs10076911 5:37173828:A:C 5 37173828 A C 5:37173930 0.999967 40878 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Burn and corrosion of head and neck 0.00162 -0.4484 0.1422 Other disorders of kidney and ureter 0.001718 0.364 0.116 C5orf42 rs75589774 5:37182800:G:A 5 37182800 G A 5:37182902 0.999929 41334 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to certain psychosocial circumstances 0.000293 0.2242 0.0619 Haemorrhage, not elsewhere classified 0.002374 0.757 0.249 C5orf42 rs72736758 5:37195926:C:T 5 37195926 C T 5:37196028 0.999064 7623 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Joubert syndrome;Joubert syndrome 17;Joubert syndrome 17;Orofaciodigital syndrome 6;not specified Atrial fibrillation and flutter with reimbursement 0.00118 0.2393 0.0738 Primary gonarthrosis, bilateral 0.0004393 1.35 0.384 C5orf42 rs369404481 5:37230994:T:C 5 37230994 T C 5:37231096 0.993389 879 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carpal tunnel syndrome 0.00189 -0.5501 0.177 GDNF rs76466003 5:37815839:C:T 5 37815839 C T 5:37815941 0.995034 4500 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hirschsprung Disease, Dominant;Hirschsprung disease 3;not specified Pain and other conditions associated with female genital organs and menstrual cycle 0.000213 0.5105 0.1379 Malignant neoplasm of ovary 0.002084 7.36 2.391 GDNF rs36119840 5:37816010:G:A 5 37816010 G A 5:37816112 0.97334 169 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Biliary chirrosis, primary 0.000493 12.173 3.4937 EGFLAM rs150754556 5:38412514:G:A 5 38412514 G A 5:38412616 0.99147 8268 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Papilloedema, unspecified 0.00012 1.5651 0.4069 0.0004197 0.506 0.143 LIFR rs3729751 5:38481601:G:T 5 38481601 G T 5:38481703 0.961993 311 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Hypertensive Renal Disease 0.000392 6.2653 1.7671 LIFR rs146205670 5:38484788:G:A 5 38484788 G A 5:38484890 0.956898 0.000854682 6 308 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Stuve-Wiedemann syndrome Dislocation, sprain and strain of joints and ligaments at wrist and hand level 8.53e-05 1.9375 0.4931 Pulmonary oedema 0.0006026 126.301 36.818 LIFR rs74856317 5:38485869:T:C 5 38485869 T C 5:38485971 0.95652 471 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anorexia (incl.atypical) 0.000764 2.876 0.8546 LIFR rs3110234 5:38485963:C:T 5 38485963 C T 5:38486065 0.9986 59686 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn disease 0.000151 0.1749 0.0462 Crohn disease 2.662e-05 0.281 0.067 LIFR rs2303743 5:38493772:T:C 5 38493772 T C 5:38493874 0.994661 6962 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Stuve-Wiedemann syndrome;not provided;not specified Other and unspecified mononeuropathies of lower limb 0.000291 1.0611 0.2929 Cirrhosis, broad definition used in the article https://doi.org/10.1101/594523 0.001795 2.575 0.825 LIFR rs3729734 5:38527206:G:A 5 38527206 G A 5:38527308 0.995831 28194 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Stuve-Wiedemann syndrome Malignant neoplasm of meninges (other cancers excluded from controls) 0.000979 -0.3773 0.1144 Seborrhoeic keratosis 0.001265 0.466 0.145 OSMR rs35117676 5:38903980:T:C 5 38903980 T C 5:38904082 0.996736 6787 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of anal and rectal regions 0.00156 0.5351 0.1691 Atrophic disorders of skin 0.0003136 4.259 1.182 OSMR rs34324145 5:38917567:T:A 5 38917567 T A 5:38917669 0.957963 882 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified acne 0.0012 5.9419 1.8348 C9 rs34882957 5:39331792:G:A 5 39331792 G A 5:39331894 0.99539 0.00396583 6 1451 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Macular degeneration, age-related, 15 Primary gonarthrosis, bilateral 7.66e-05 0.633 0.1601 Fracture of rib(s), sternum and thoracic spine 0.0004018 12.555 3.548 C9 rs34000044 5:39342112:G:T 5 39342112 G T 5:39342214 0.964262 393 pLoF unknown Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Divergent concomitant strabismus 0.000146 3.1689 0.8344 C9 rs41271047 5:39342141:T:A 5 39342141 T A 5:39342243 0.984089 532 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complement component 9 deficiency Myositis 0.000417 5.8923 1.6697 Kela-code for behavioural disturbances in mental retardation 0.0001202 527.515 137.173 C9 rs700233 5:39364452:G:A 5 39364452 G A 5:39364554 0.999742 85756 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic ileus 0.000857 0.2463 0.0739 Hypermetropia 0.001608 -0.191 0.061 DAB2 rs145194026 5:39377273:G:A 5 39377273 G A 5:39377375 0.993907 308 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Volvulus 0.000189 9.9576 2.6672 DAB2 rs148242258 5:39382671:T:C 5 39382671 T C 5:39382773 0.993313 1780 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diabetes, wide definition 0.000123 -0.3124 0.0813 Disorders of lacrimal system and orbit in diseases classified elsewhere 0.0001898 339.623 90.998 PTGER4 rs111866313 5:40691791:G:A 5 40691791 G A 5:40691893 0.988472 9056 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Acquired absence of organs, not elsewhere classified 0.000645 1.6837 0.4935 Other juvenile arthritis 0.0008818 4.998 1.503 CARD6 rs61757654 5:40843448:A:G 5 40843448 A G 5:40843550 0.997309 7602 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epidural haemorrhage 0.000454 1.9085 0.5443 Malignant neoplasm of lip, oral cavity and pharynx 1.303e-05 20.46 4.693 CARD6 rs139926562 5:40853454:C:G 5 40853454 C G 5:40853556 0.924523 0.000291245 0 107 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified and unspecified personality disorders 7.8e-05 7.3477 1.86 C7 rs121964920 5:40959520:C:A 5 40959520 C A 5:40959622 0.98503 643 missense_variant unknown Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Disorders of muscles 0.000553 1.9986 0.5787 C6 rs142836385 5:41149346:C:T 5 41149346 C T 5:41149448 0.998428 4337 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasm of uterus: Other parts/unspecified 0.00116 0.9082 0.2796 Injuries to the shoulder and upper arm 0.0006494 1.228 0.36 C6 rs76202909 5:41149933:A:G 5 41149933 A G 5:41150035 0.995465 491 pLoF unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl not provided Soft tissue disorders related to use, overuse and pressure 0.00111 1.1892 0.3646 0.001792 4.935 1.58 C6 rs41271067 5:41154986:T:C 5 41154986 T C 5:41155088 0.962856 1723 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified and unspecified retinal disorders 0.000561 2.6629 0.7719 Pure hyperglyceridaemia 0.0008221 101.55 30.356 C6 rs142896559 5:41161796:C:T 5 41161796 C T 5:41161898 0.984764 3025 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic amputation of wrist and hand 0.000737 1.2882 0.3816 Other abnormalities of plasma proteins 0.001682 54.794 17.443 C6 rs114609505 5:41195837:G:A 5 41195837 G A 5:41195939 0.982137 5781 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Transient ischemic attack 0.00136 -0.2278 0.0711 Death due to cardiac causes 8.184e-05 2.575 0.654 C6 rs1801033 5:41199857:G:T 5 41199857 G T 5:41199959 0.999187 88127 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cyst of kidney 0.000176 0.2317 0.0617 Intestinal adhesions without obstruction 0.0002678 0.135 0.037 OXCT1 rs76956231 5:41862717:G:A 5 41862717 G A 5:41862819 0.942132 0.00137185 2 502 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Peptic ulcer 9.21e-05 12.0828 3.0899 GHR rs121909362 5:42699919:C:T 5 42699919 C T 5:42700021 0.994509 1112 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;Laron-type isolated somatotropin defect;Laron-type isolated somatotropin defect;Short stature, idiopathic, autosomal;Short stature, idiopathic, autosomal;Short stature, idiopathic, autosomal;not provided;not specified Other lack of coordination 0.00125 4.3652 1.3523 Acute posthaemorrhagic anaemia 0.001135 73.139 22.471 GHR rs6182 5:42718826:G:T 5 42718826 G T 5:42718928 0.98017 1191 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Laron-type isolated somatotropin defect;not specified Type 2 diabetes with ketoacidosis 0.000821 3.225 0.9639 Rheumatic valve diseases 0.001414 62.438 19.562 GHR rs6180 5:42719137:A:C 5 42719137 A C 5:42719239 0.998684 85931 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal brain injury 0.00139 -0.1666 0.0521 Nonischemic cardiomyopathy 0.0005165 0.201 0.058 GHR rs6184 5:42719242:C:A 5 42719242 C A 5:42719344 0.98008 1191 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Laron-type isolated somatotropin defect;not specified Type 2 diabetes with ketoacidosis 0.000821 3.2249 0.9639 Rheumatic valve diseases 0.001414 62.438 19.562 NNT rs75710404 5:43655972:C:T 5 43655972 C T 5:43656074 0.97321 2630 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of trunk 0.00115 0.8856 0.2724 9.491e-05 1.373 0.352 NNT rs78818665 5:43700219:A:G 5 43700219 A G 5:43700321 0.992462 3230 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Functional dyspepsia 0.000547 -0.4641 0.1343 Unspesified nephritic syndrome 0.0006547 12.785 3.752 FGF10 rs147715509 5:44305002:T:G 5 44305002 T G 5:44305104 0.998745 1290 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coxarthrosis, primary 0.000417 0.528 0.1496 ITGA1 rs151102756 5:52945020:C:A 5 52945020 C A 5:52240850 0.999112 4313 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other encephalitis 0.001 1.4751 0.4483 Chronic hepatitis, not elsewhere classified 0.0004045 16.314 4.612 ITGA2 rs143262642 5:53042153:G:A 5 53042153 G A 5:52337983 0.990135 702 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetic retinopathy 0.000402 0.5742 0.1622 ITGA2 rs80331976 5:53075074:T:C 5 53075074 T C 5:52370904 0.978444 4320 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Platelet-type bleeding disorder 9 Alcohol abuse counselling and surveillance 0.000674 2.5616 0.7535 Seropositive rheumatoid arthritis, strict definition 0.002369 6.687 2.2 MOCS2 rs2233218 5:53101369:G:A 5 53101369 G A 5:52397199 0.897162 849 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Disturbances of skin sensation 0.000443 1.0912 0.3106 Asthma/COPD (KELA code 203) 0.001352 6.25 1.95 MOCS2 rs2233213 5:53102175:T:C 5 53102175 T C 5:52398005 0.99294 7017 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Combined molybdoflavoprotein enzyme deficiency Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system 0.000765 1.4608 0.4341 Inflammatory diseases of prostate (prostatitis) 0.000204 3.4 0.915 MOCS2 rs140563222 5:53102215:C:T 5 53102215 C T 5:52398045 0.814073 79 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ankylosing hyperostosis [Forestier] 0.000329 37.9911 10.5795 FST rs11745088 5:53483680:G:C 5 53483680 G C 5:52779510 0.991526 3915 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Focal epilepsy 0.00016 1.2943 0.3429 Acute peritonitis 0.0006365 13.102 3.836 FST rs150492112 5:53484153:G:A 5 53484153 G A 5:52779983 0.998005 4042 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified inflammatory spondylopathies 0.000703 1.0695 0.3156 Abscess of external ear 9.736e-05 31.932 8.194 NDUFS4 rs31304 5:53646253:A:C 5 53646253 A C 5:52942083 0.996494 19548 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins 0.000117 -0.1202 0.0312 Varicose veins 0.0001889 -0.061 0.016 HSPB3 rs139382018 5:54455810:G:T 5 54455810 G T 5:53751640 0.978338 599 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Attention to artificial openings 0.00197 4.7097 1.5216 HSPB3 rs41270303 5:54456144:A:G 5 54456144 A G 5:53751974 0.989742 12146 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Distal hereditary motor neuronopathy;Distal hereditary motor neuronopathy type 2C Ischaemic Stroke, excluding all haemorrhages 0.00019 0.172 0.0461 Other lesions of median nerve 0.000284 4.443 1.224 MCIDAS rs181843638 5:55220703:C:T 5 55220703 C T 5:54516531 0.905614 430 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck 0.000488 3.2195 0.9232 MCIDAS rs199825346 5:55220785:G:A 5 55220785 G A 5:54516613 0.88324 248 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of puberty 0.000642 10.7192 3.1404 CCNO rs139606873 5:55233390:G:T 5 55233390 G T 5:54529218 0.995498 381 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Generalized epilepsy, strict edfinition 0.00025 3.1215 0.8524 DHX29 rs149543515 5:55295401:T:C 5 55295401 T C 5:54591229 0.987202 329 missense_variant unknown not provided not_provided no assertion provided none Acute and subacute iridocyclitis 0.00112 1.7741 0.5444 Diabetic retinopathy (more controls excluded) 0 4.505 0 DDX4 rs139850021 5:55792752:A:G 5 55792752 A G 5:55088580 0.997312 4391 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Somnolence, stupor and coma 0.00019 1.1857 0.3177 Abnormal findings on examination of urine, without diagnosis 1.48e-05 19.119 4.414 IL6ST rs61748224 5:55941186:C:T 5 55941186 C T 5:55237014 0.98879 0.00390867 14 1422 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to sedatives or hypnotics 1.54e-05 1.8887 0.4369 Leiomyoma of uterus 0 4.07 0 ANKRD55 rs77017041 5:56111622:A:G 5 56111622 A G 5:55407449 0.984037 2750 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Systemic connective tissue disorders 0.000994 0.4306 0.1308 Other diseases caused by chlamydiae 0.001938 48.151 15.534 ANKRD55 rs146546015 5:56116745:C:T 5 56116745 C T 5:55412572 0.968694 6792 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons with potential health hazards related to socioeconomic and psychosocial circumstances 0.000253 -0.3242 0.0886 Primary gonarthrosis, bilateral 4.646e-05 1.769 0.434 MAP3K1 rs56069227 5:56859845:A:G 5 56859845 A G 5:56155672 0.992415 9085 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter 46,XY sex reversal, type 6 Dermatographic urticaria 0.00168 0.564 0.1795 Malignant neoplasm of breast 0.0004838 0.937 0.268 MAP3K1 rs702689 5:56881616:G:A 5 56881616 G A 5:56177443 0.999472 74195 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified dermatitis 0.000244 0.0669 0.0182 Asthma, unspecified (mode) 0.0003685 -0.045 0.013 MAP3K1 rs832582 5:56881916:G:A 5 56881916 G A 5:56177743 0.999522 56561 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and specified injuries of hip and thigh 0.00101 0.4584 0.1394 Asthma, unspecified (mode) 0.0002669 -0.049 0.013 ERCC8 rs61754098 5:60898280:G:T 5 60898280 G T 5:60194107 0.996306 200 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Noninflammatory disorders of female genital tract 0.00074 -0.6661 0.1974 ERCC8 rs150727525 5:60899690:C:G 5 60899690 C G 5:60195517 0.990173 1929 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injuries to the neck 0.00111 -0.6514 0.1998 Injuries to the thorax 6.039e-05 9.13 2.276 NDUFAF2 rs9885480 5:61152896:G:A 5 61152896 G A 5:60448723 0.994392 0.0243693 208 8745 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Migraine, single triptan purchase ok & required. ICD-code if available is included 1.99e-06 0.2496 0.0525 Otitis media, unspecified 0.0003373 2.942 0.821 ZSWIM6 rs140760439 5:61530120:G:A 5 61530120 G A 5:60825947 0.968592 554 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydatidiform mole 0.000118 11.1795 2.9043 Endocrine, nutritional and metabolic diseases 0 2.181 0 IPO11 rs35107530 5:62476703:A:G 5 62476703 A G 5:61772530 0.96858 2669 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebral palsy 0.00109 2.2245 0.6812 Sequelae of injuries, of poisoning and of other consequences of external causes 0.0003246 6.646 1.849 HTR1A rs1799921 5:63961638:T:C 5 63961638 T C 5:63257465 0.964872 3699 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Systemic connective tissue disorders 0.000359 -0.4053 0.1136 Transient global amnesia 0.001238 8.828 2.733 ERBIN rs61758158 5:66012096:A:G 5 66012096 A G 5:65307924 0.988624 7950 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other degenerative diseases of the nervous system 0.000447 0.3074 0.0875 Ectropion of eyelid 0.0002665 7.428 2.037 ERBIN rs142496054 5:66054451:C:T 5 66054451 C T 5:65350279 0.996707 0.0175292 108 6332 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coagulation defects, purpura and other haemorrhagic conditions 7.1e-05 0.4992 0.1256 5.405e-05 2.502 0.62 PIK3R1 rs3730089 5:68292320:G:A 5 68292320 G A 5:67588148 0.997189 39704 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism,other/unspecified 0.000301 -0.066 0.0182 0.0002878 0.437 0.121 MARVELD2 rs1185246 5:69419483:C:T 5 69419483 C T 5:68715310 0.999961 0.577025 122442 89550 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anisometropia and aniseikonia 2.75e-05 -0.3627 0.0865 Anisometropia and aniseikonia 0.0004741 -0.224 0.064 MARVELD2 rs150434290 5:69419561:C:T 5 69419561 C T 5:68715388 0.994449 247 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spinal instabilities 0.000759 6.7211 1.996 MARVELD2 rs139854607 5:69419885:A:G 5 69419885 A G 5:68715712 0.980916 4645 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Complications of the puerperium, not elsewhere classified 0.000204 1.2693 0.3418 Anaemia in chronic diseases classified elsewhere 0.004053 25.6 8.908 MARVELD2 rs72773422 5:69420283:T:A 5 69420283 T A 5:68716110 0.992728 908 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Deafness, autosomal recessive 49;not provided;not specified Postydysenteric arthropathy 0.000919 6.5559 1.9781 0.00128 68.961 21.414 OCLN rs147125035 5:69509160:C:G 5 69509160 C G 5:68804987 0.996729 8180 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Hyperaldosteronism 0.000765 1.0647 0.3164 Mixed specific developmental disorders 0.001079 7.026 2.149 SMN2 rs121909192 5:70076545:G:C 5 70076545 G C 5:69372372 0.887428 0.000612432 0 225 missense_variant recessive Pathogenic, risk factor risk factor no assertion criteria provided no_Criteria Dementia in Alzheimer disease 9.21e-05 3.7658 0.963 NAIP rs115486998 5:71012727:C:A 5 71012727 C A 5:70308554 0.95107 1319 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Calcific tendinitis of shoulder 0.000867 1.7644 0.5298 Dementia in other diseases classified elsewhere 0.0004813 13.538 3.878 BDP1 rs3748043 5:71455991:T:G 5 71455991 T G 5:70751818 0.997745 54659 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of stomach and duodenum 0.00164 0.226 0.0718 Premature rupture of membranes 0.001777 0.075 0.024 BDP1 rs36009281 5:71502714:A:G 5 71502714 A G 5:70798541 0.991926 16128 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Injuries to the ankle and foot 0.000144 0.1382 0.0364 Benign neoplasm: Skin of eyelid, including canthus 0.002124 0.87 0.283 BDP1 rs3761966 5:71504648:C:T 5 71504648 C T 5:70800475 0.999395 76570 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylosis 0.000262 0.0728 0.0199 Other sleepdisorders 0.001055 -0.169 0.052 BDP1 rs3761967 5:71504711:G:A 5 71504711 G A 5:70800538 0.998561 91425 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Influenza and pneumonia 0.000612 0.0352 0.0103 Thyrotoxicosis with diffuse goitr 0.0003144 -0.101 0.028 BDP1 rs200304584 5:71509880:G:A 5 71509880 G A 5:70805707 0.973884 275 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary_lymphoid and hematopoietic malignant neoplasms (other cancers excluded from controls) 0.000585 2.1336 0.6205 BDP1 rs715748 5:71510630:G:A 5 71510630 G A 5:70806457 0.998407 91424 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Influenza and pneumonia 0.000609 0.0352 0.0103 Thyrotoxicosis with diffuse goitr 0.0003112 -0.101 0.028 BDP1 rs1961760 5:71510822:T:A 5 71510822 T A 5:70806649 0.998542 91426 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Influenza and pneumonia 0.000801 0.0344 0.0103 Thyrotoxicosis with diffuse goitr 0.0002593 -0.102 0.028 BDP1 rs715747 5:71510884:C:G 5 71510884 C G 5:70806711 0.997818 54665 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of stomach and duodenum 0.00164 0.2261 0.0718 Premature rupture of membranes 0.001775 0.075 0.024 BDP1 rs6886336 5:71511131:G:A 5 71511131 G A 5:70806958 0.99792 54662 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of stomach and duodenum 0.00163 0.2262 0.0718 Premature rupture of membranes 0.001771 0.075 0.024 BDP1 rs1698063 5:71513342:A:G 5 71513342 A G 5:70809169 0.998138 91312 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of skin of lower limb, including hip 0.00036 0.461 0.1292 Chronic rhinitsi, nasopharyngitis and pharyngitis 0.0009738 0.062 0.019 BDP1 rs34529158 5:71522303:C:A 5 71522303 C A 5:70818130 0.999894 12821 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Aortic aneurysm 0.000383 0.3247 0.0914 Portal vein thrombosis 0.0001582 9.221 2.441 BDP1 rs12187098 5:71522323:C:G 5 71522323 C G 5:70818150 0.930739 0.00727569 34 2639 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Diffuse large B-cell lymphoma 6.66e-06 3.6246 0.8047 Other assisted single delivery 0.0008898 72.986 21.962 BDP1 rs34727932 5:71524099:C:T 5 71524099 C T 5:70819926 0.980817 1489 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified psoriasis 0.0016 1.6456 0.5213 BDP1 rs469039 5:71553194:G:T 5 71553194 G T 5:70849021 0.998468 91432 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Influenza and pneumonia 0.000482 0.0358 0.0103 Thyrotoxicosis with diffuse goitr 0.0003905 -0.099 0.028 BDP1 rs17276250 5:71562441:A:G 5 71562441 A G 5:70858268 0.987409 6235 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parapsoriasis 0.000342 1.5715 0.4389 Emotional disorders starting during childhood or adolecense (more controls excluded) 0.0007076 10.442 3.083 BDP1 rs34246164 5:71562515:A:G 5 71562515 A G 5:70858342 0.96876 0.0504997 928 17625 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Traumatic amputation of wrist and hand 9.92e-05 0.6157 0.1582 Alzheimer's disease (Late onset) 0.0007814 0.852 0.254 MCCC2 rs140806722 5:71604443:T:A 5 71604443 T A 5:70900270 0.929707 0.000778469 0 286 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of larynx 2.04e-05 18.6967 4.3888 CARTPT rs77879475 5:71719387:G:A 5 71719387 G A 5:71015214 0.979714 365 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Total colectomy operation 0.000908 4.7359 1.4275 MAP1B rs149740474 5:72198381:G:A 5 72198381 G A 5:71494208 0.927643 0.00383518 8 1401 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension 2.54e-05 0.3389 0.0805 Other and unspecified injuries of thorax 0.0004289 157.942 44.849 MAP1B rs139319889 5:72198867:T:C 5 72198867 T C 5:71494694 0.946305 202 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of genitourinary prosthetic devices, implants and grafts 0.00068 11.0671 3.2575 ARHGEF28 rs202122468 5:73753050:A:G 5 73753050 A G 5:73048875 0.997496 2939 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other specified disorders of muscle 0.000221 1.6626 0.4501 Gastrointestinal diseases 7.44e-05 -0.883 0.223 ARHGEF28 rs7714670 5:73776529:T:C 5 73776529 T C 5:73072354 0.995403 0.464071 79156 91338 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conductive and sensorineural hearing loss 5.11e-06 0.0602 0.0132 Conductive and sensorineural hearing loss 5.93e-05 0.046 0.011 ARHGEF28 rs6453022 5:73780686:C:A 5 73780686 C A 5:73076511 0.994882 0.483263 85784 91761 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conductive and sensorineural hearing loss 5.32e-06 0.0599 0.0132 Conductive and sensorineural hearing loss 3.694e-05 0.045 0.011 ARHGEF28 rs2973571 5:73846471:C:T 5 73846471 C T 5:73142296 0.996011 69774 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glaucoma suspect 0.000364 0.1011 0.0284 Burns and corrosions 0.000314 0.186 0.052 ARHGEF28 rs2973566 5:73852656:G:A 5 73852656 G A 5:73148481 0.996504 69008 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glaucoma suspect 0.000625 0.0975 0.0285 Conductive and sensorineural hearing loss 0.0003316 0.068 0.019 ARHGEF28 rs115243197 5:73857727:G:A 5 73857727 G A 5:73153552 0.963518 9821 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Phlebitis and thrombophlebitis (not including DVT) 0.000338 0.3274 0.0913 6.058e-05 -0.525 0.131 ARHGEF28 rs187509753 5:73858124:A:G 5 73858124 A G 5:73153949 0.989153 6663 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of oesophagus 0.00022 0.5972 0.1617 Disorders of oesophagus in diseases classified elsewhere 2.183e-05 17.115 4.032 ARHGEF28 rs2973558 5:73868140:C:A 5 73868140 C A 5:73163965 0.999819 76378 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia 0.00074 -0.2021 0.0599 Vitamin deficiency 0.0001479 0.319 0.084 ARHGEF28 rs188040167 5:73901264:G:A 5 73901264 G A 5:73197089 0.990866 1024 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other congenital malformations 0.000708 1.6562 0.4891 ARHGEF28 rs139349480 5:73909608:G:T 5 73909608 G T 5:73205433 0.915258 141 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parapsoriasis 0.000189 17.4389 4.6706 ARHGEF28 rs17634853 5:73909638:G:A 5 73909638 G A 5:73205463 0.992763 19652 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.00282 0.649 0.2173 0.000123 0.683 0.178 ARHGEF28 rs78992879 5:73909872:C:G 5 73909872 C G 5:73205697 0.992839 19668 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.00223 0.6658 0.2177 0.0001299 0.679 0.177 ARHGEF28 rs17634865 5:73909892:C:T 5 73909892 C T 5:73205717 0.993434 19670 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.00121 0.7084 0.2189 5.996e-05 0.713 0.178 ARHGEF28 rs201626401 5:73911291:G:A 5 73911291 G A 5:73207116 0.995231 1416 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.000992 0.3487 0.1059 Other and unspecified epidermal thickening 0.0005616 137.947 39.99 ARHGEF28 rs1478453 5:73911547:T:A 5 73911547 T A 5:73207372 0.989299 0.349821 45436 83084 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of brain 2.78e-05 0.3299 0.0787 Other arterial embolism and thrombosis 0.0007462 0.327 0.097 ARHGEF28 rs423333 5:73923129:C:T 5 73923129 C T 5:73218954 0.994379 49776 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasms of skin (other cancers excluded from controls) 0.000231 -0.1026 0.0278 Other benign neoplasms of skin (other cancers excluded from controls) 0.0007425 -0.152 0.045 ARHGEF28 rs282414 5:73940855:T:C 5 73940855 T C 5:73236680 0.896979 600 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis, 0.000188 0.9734 0.2606 HEXB rs820878 5:74685445:T:C 5 74685445 T C 5:73981270 0.993175 8320 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Personality and behavioural disorders due to brain disease, damage and dysfunction 0.000206 -1.4039 0.3782 Personality and behavioural disorders due to brain disease, damage and dysfunction 0.0001413 -0.733 0.193 HEXB rs147155126 5:74685474:C:T 5 74685474 C T 5:73981299 0.985884 3354 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Sandhoff disease;not provided;not specified Transplanted organ and tissue status 0.000648 0.833 0.2442 Transplanted organ and tissue status 0.001713 8.026 2.559 HEXB rs11556045 5:74689390:A:G 5 74689390 A G 5:73985215 0.995736 51523 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.000147 -0.0842 0.0222 Statin medication 0.0009934 -0.068 0.021 HEXB rs10805890 5:74697056:A:G 5 74697056 A G 5:73992881 0.994909 0.15491 8910 48002 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other necrotizing vasculopathies 2.08e-05 0.3238 0.0761 6.345e-05 0.126 0.032 GFM2 rs1048167 5:74721674:C:T 5 74721674 C T 5:74017499 0.998247 37279 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of other body structures 0.000476 0.2564 0.0734 Sensorineural hearing loss 7.933e-05 0.162 0.041 GFM2 rs35080306 5:74721765:G:C 5 74721765 G C 5:74017590 0.997658 3193 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Vertical strabismus 0.00105 1.5437 0.4711 All anxiety disorders 0.0001919 4.262 1.143 GFM2 rs5868753 5:74726021:TACTCAA:T 5 74726021 TACTCAA T 5:74021846 0.997935 51473 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of ocular muscles, binocular movement, accommodation and refraction 7e-04 0.0846 0.025 Sensorineural hearing loss 4.023e-05 0.117 0.028 GFM2 rs143461990 5:74730268:C:T 5 74730268 C T 5:74026093 0.961775 549 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of cervix uteri 0.000184 3.2069 0.8574 GFM2 rs16872235 5:74741561:T:A 5 74741561 T A 5:74037386 0.99841 37281 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of other body structures 0.000458 0.2573 0.0734 Sensorineural hearing loss 5.908e-05 0.165 0.041 GFM2 rs957680 5:74759384:T:C 5 74759384 T C 5:74055209 0.997969 37427 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of other body structures 0.000521 0.2542 0.0733 Sensorineural hearing loss 2.548e-05 0.173 0.041 GFM2 rs79992455 5:74763700:T:C 5 74763700 T C 5:74059525 0.983029 0.0143118 92 5166 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Anus and anal canal 3.47e-05 1.735 0.4191 Other meningitis 0.0001175 28.967 7.522 ANKRD31 rs150791065 5:75169017:T:C 5 75169017 T C 5:74464842 0.882128 567 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gastrointestinal diseases 0.00069 -0.3064 0.0903 Benign neoplasm: Connective and other soft tissue of lower limb, including hip 0.0007203 111.167 32.873 COL4A3BP rs61759489 5:75425483:C:T 5 75425483 C T 5:74721308 0.997464 0.00202511 0 744 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acquired absence of organs, not elsewhere classified 5.09e-05 9.3677 2.3122 COL4A3BP rs5744540 5:75511375:G:C 5 75511375 G C 5:74807200 0.989112 7183 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholesteatoma of middle ear 0.000849 0.6969 0.2089 Primary ovarian failure 0.000614 13.597 3.969 POLK rs148960463 5:75547107:G:A 5 75547107 G A 5:74842932 0.993747 400 missense_variant unknown Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Any mental disorder, or suicide (or attempt), or psychic disorders complicating pregnancy, partum or puerperum or nerve system disorders 0.000131 -0.5515 0.1442 ANKDD1B rs139309851 5:75669267:G:A 5 75669267 G A 5:74965092 0.961161 1011 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyrotoxicosis with toxic multinodular goitre 0.000877 1.9699 0.5921 Other renal tubulo-interstitial diseases 0.001083 78.606 24.052 IQGAP2 rs147531108 5:76590467:G:A 5 76590467 G A 5:75886292 0.969501 0.00136368 0 501 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic subdural haemorrhage 1.29e-05 3.5524 0.8145 IQGAP2 rs3822530 5:76611098:C:A 5 76611098 C A 5:75906923 0.993892 913 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes, insuline treatment (Kela reimbursement) 0.000477 -0.3965 0.1135 Non-small cell lung cancer, adenocarcinoma 0.00111 74.353 22.801 F2R rs146829790 5:76733367:A:G 5 76733367 A G 5:76029192 0.997562 4653 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Foreign body on external eye 0.000892 -0.5104 0.1536 Polyarthropathies 0.0002983 1.745 0.483 AGGF1 rs34203073 5:77035624:G:A 5 77035624 G A 5:76331449 0.925583 0.00279269 4 1022 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otitis externa 2.71e-06 1.5208 0.3242 AGGF1 rs138152040 5:77059643:T:G 5 77059643 T G 5:76355468 0.990889 1912 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: other/unspecified salivary gland (other cancers excluded from controls) 0.000158 2.4478 0.648 Cardiovascular diseases 0.0002154 -1.459 0.394 PDE8B rs115599001 5:77312016:G:A 5 77312016 G A 5:76607841 0.890961 638 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Striatal Degeneration Benign neoplasm: Skin of lower limb, including hip (other cancers excluded from controls) 0.00228 4.1337 1.3546 Coronary atherosclerosis 0.000185 1.747 0.467 PDE8B rs201363586 5:77407401:C:T 5 77407401 C T 5:76703226 0.962069 415 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute bronchitis 0.000209 1.1351 0.3061 AP3B1 rs146503597 5:78015546:C:T 5 78015546 C T 5:77311370 0.957293 911 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hermansky Pudlak syndrome 2;Hermansky-Pudlak syndrome;not specified Other and unspecified hydrocephalus 0.00129 5.8754 1.8258 Other nutritional anaemias 0.0005975 122.842 35.785 AP3B1 rs139344924 5:78039191:G:T 5 78039191 G T 5:77335015 0.963914 1234 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hermansky Pudlak syndrome 2;Hermansky-Pudlak syndrome;not specified Retinal breaks without detachment 0.000467 1.1808 0.3375 0.0001295 23.525 6.146 AP3B1 rs199702315 5:78101011:TTTC:T 5 78101011 TTTC T 5:77396835 0.975407 0.0370399 540 13068 inframe_indel recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hermansky Pudlak syndrome 2;Hermansky-Pudlak syndrome;not specified Disorders of the thyroid gland 4.19e-05 -0.1204 0.0294 Benign neoplasm: Middle ear, nasal cavity and accessory sinuses (other cancers excluded from controls) 0.0002866 3.809 1.05 AP3B1 rs141102178 5:78113813:G:A 5 78113813 G A 5:77409637 0.991795 754 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hermansky Pudlak syndrome 2;Hermansky-Pudlak syndrome Hypertrophy of (infrapatellar) fat pad 0.001 6.1925 1.8824 Family history of certain disabilities and chronic diseases leading to disablement 0.000369 200.431 56.28 AP3B1 rs6453373 5:78129204:A:T 5 78129204 A T 5:77425028 0.989762 0.895013 294308 34509 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiac arrhytmias, COPD co-morbidities 5.27e-05 -0.077 0.0191 Cardiac arrhytmias, COPD co-morbidities 7.057e-05 -0.041 0.01 AP3B1 rs142025324 5:78175810:T:C 5 78175810 T C 5:77471634 0.998848 1022 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hermansky Pudlak syndrome 2;Hermansky-Pudlak syndrome Stroke, including SAH 0.000408 0.5095 0.1441 Other specified and unspecified strabismus 0.001067 81.63 24.947 ARSB rs25414 5:78839418:C:T 5 78839418 C T 5:78135241 0.993976 16453 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mucopolysaccharidosis type VI;not provided;not specified Examination and encounter for administrative purposes 0.000171 1.2447 0.3312 0.0002897 -0.216 0.06 ARSB rs1071598 5:78885600:C:T 5 78885600 C T 5:78181423 0.998668 37657 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Any gastric operation 0.000192 -0.0432 0.0116 Labour and delivery complicated by intrapartum haemorrhage, not elsewhere classified 0.0001536 1.905 0.503 ARSB rs200040980 5:78885603:C:T 5 78885603 C T 5:78181426 0.966834 273 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Problems related to housing and economic circumstances 0.00115 8.9992 2.7684 ARSB rs1065757 5:78885654:C:T 5 78885654 C T 5:78181477 0.994278 0.560187 115868 89938 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pterygium 3.81e-05 -0.355 0.0862 Supervision of normal pregnancy 0.0008301 0.039 0.012 ARSB rs201168448 5:78985151:G:A 5 78985151 G A 5:78280974 0.961264 10161 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mucopolysaccharidosis type VI;not provided;not specified Migraine 0.000101 -0.2169 0.0558 Gastro-oesophageal reflux disease 0.0007009 0.694 0.205 DMGDH rs41272262 5:79005349:C:T 5 79005349 C T 5:78301172 0.99434 611 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of synovium and tendon 0.000486 0.7197 0.2063 DMGDH rs1805074 5:79028529:A:G 5 79028529 A G 5:78324352 0.999157 72320 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructed labour due to malposition and malpresentation of fetus 0.000388 -0.1107 0.0312 Soft tissue disorders 8.831e-06 -0.053 0.012 DMGDH rs138871430 5:79028538:T:C 5 79028538 T C 5:78324361 0.975491 355 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Toxic effect of alcohol 0.000229 9.447 2.5637 DMGDH rs1805073 5:79030927:G:C 5 79030927 G C 5:78326750 0.998906 72306 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructed labour due to malposition and malpresentation of fetus 0.00039 -0.1107 0.0312 Soft tissue disorders 9.212e-06 -0.053 0.012 DMGDH rs77116243 5:79042379:T:C 5 79042379 T C 5:78338202 0.998147 5177 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Contracture of joint 0.000299 2.0422 0.5647 Thrombocytopenia, unspecified 0.0002235 7.945 2.153 DMGDH rs139044238 5:79044326:C:T 5 79044326 C T 5:78340149 0.98566 756 pLoF recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicalgia 0.00175 1.0645 0.3402 Dermatitis and eczema 4.02e-05 4.756 1.158 DMGDH rs145258663 5:79044400:G:A 5 79044400 G A 5:78340223 0.991902 2296 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Juvenile osteochondrosis 0.000284 1.7974 0.4952 Contact with and exposure to communicable diseases 0.0004708 14.259 4.078 BHMT rs59866108 5:79121335:G:A 5 79121335 G A 5:78417158 0.959238 1769 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholangitis (primary sclerosing, PSC), with reimbursement 202 0.000474 3.6562 1.0462 Type 1 diabetes with neurological complications 0.0001159 13.695 3.553 CMYA5 rs141830505 5:79690010:G:A 5 79690010 G A 5:78985833 0.981889 1128 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at shoulder and upper arm level 0.000502 0.7008 0.2014 CMYA5 rs189499447 5:79728924:C:A 5 79728924 C A 5:79024747 0.886434 639 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Right bundle-branch block 0.00107 4.5251 1.3828 Other specified disorders of muscle 0.0004028 141.84 40.088 CMYA5 rs114648445 5:79729769:C:T 5 79729769 C T 5:79025592 0.919909 398 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Antepartum haemorrhage, not elsewhere classified 0.000663 3.4296 1.0074 CMYA5 rs200387533 5:79730516:A:C 5 79730516 A C 5:79026339 0.908775 427 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma and allergy 0.000213 2.1211 0.5727 CMYA5 rs115952199 5:79733708:A:G 5 79733708 A G 5:79029531 0.939903 924 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic strabismus 0.000209 2.3414 0.6314 Trigeminal neuralgia 7.637e-05 30.113 7.613 CMYA5 rs17254174 5:79733939:C:T 5 79733939 C T 5:79029762 0.984693 9319 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hemiplegia 0.00116 0.571 0.1758 Bicipital tendinitis 0.000476 3.82 1.093 CMYA5 rs201032060 5:79734800:C:T 5 79734800 C T 5:79030623 0.909136 431 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma and allergy 0.00023 2.0965 0.5692 CMYA5 rs191897488 5:79737637:G:T 5 79737637 G T 5:79033460 0.991839 475 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Liver/bile ducts 0.000855 6.6128 1.9833 THBS4 rs17882372 5:80068037:C:T 5 80068037 C T 5:79363860 0.962274 2231 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Short bones of upper limb 0.000741 3.0033 0.8902 Other congenital malformations of circulatory system 2.142e-05 58.634 13.798 MSH3 rs755000466 5:80654880:TGCAGCGGCTGCAGCGGCC:T 5 80654880 TGCAGCGGCTGCAGCGGCC T 5:79950699 0.99853 61457 inframe_indel recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thyrotoxicosis with diffuse goitr 0.000731 0.144 0.0426 Bronchitis 0.001598 -0.056 0.018 MSH3 rs2405875 5:80654889:TGCAGCGGCC:T 5 80654889 TGCAGCGGCC T 5:79950708 0.990192 0.00617875 16 2254 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Haemorrhage in early pregnancy 4.29e-05 0.8073 0.1973 Secondary malignant neoplasm of other and unspecified sites 0.0005245 140.549 40.528 MSH3 rs1574197 5:80654908:G:GCAGCGCCCC 5 80654908 G GCAGCGCCCC 5:79950727 0.957388 0.0707563 2044 23951 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Artificial opening status 3.47e-05 0.7177 0.1734 Alzheimer's disease, wide definition 0.000651 0.409 0.12 MSH3 rs761734241 5:80654922:GCCCCCAGCT:G 5 80654922 GCCCCCAGCT G 5:79950741 0.998891 61470 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyrotoxicosis with diffuse goitr 0.000695 0.1446 0.0426 Bronchitis 0.001647 -0.056 0.018 MSH3 rs1650697 5:80654962:A:G 5 80654962 A G 5:79950781 0.999894 0.733464 197906 71560 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Procedures for purposes other than remedying health state 5.14e-05 -0.375 0.0926 Pleural plaque 0.0004505 0.117 0.033 MSH3 rs974762625 5:80679060:CAG:C 5 80679060 CAG C 5:79974879 0.91333 108 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Chronic diseases of tonsils and adenoids 0.00036 1.2237 0.343 MSH3 rs200819607 5:80775702:A:G 5 80775702 A G 5:80071521 0.995388 587 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified injuries of thorax 0.000329 8.5851 2.3905 MSH3 rs199791286 5:80778737:G:A 5 80778737 G A 5:80074556 0.997666 300 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Prurigo nodularis 0.00199 7.307 2.3631 MSH3 rs41545019 5:80813660:T:G 5 80813660 T G 5:80109479 0.990078 358 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Exfoliative dermatitis 0.000476 12.7019 3.6351 MSH3 rs184967 5:80854162:A:G 5 80854162 A G 5:80149981 0.999932 41001 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute sinusitis 0.00019 -0.0885 0.0237 Acute sinusitis 3.324e-05 -0.054 0.013 MSH3 rs26279 5:80873118:G:A 5 80873118 G A 5:80168937 0.998887 0.724901 192922 73398 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute appendicitis, with complications 7.27e-05 0.1158 0.0292 Nasal polyp 0.0004259 -0.073 0.021 XRCC4 rs1379641593 5:83104942:TC:T 5 83104942 TC T 5:82400761 0.917993 148 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Foreign body in alimentary tract 0.000336 8.5393 2.3812 XRCC4 rs61762970 5:83111112:T:C 5 83111112 T C 5:82406931 0.987406 0.00270831 8 987 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of pancreas 9.29e-05 2.8859 0.7384 0.0005463 10.062 2.911 VCAN rs201515722 5:83490421:G:A 5 83490421 G A 5:82786240 0.99468 1348 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute sinusitis 0.000309 -0.4753 0.1318 Dyshidrosis [pompholyx] 0.0004177 172.08 48.767 VCAN rs141008923 5:83493674:G:A 5 83493674 G A 5:82789493 0.97915 0.000533496 0 196 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck (other cancers excluded from controls) 2.67e-05 7.8173 1.8613 VCAN rs2652098 5:83512253:C:T 5 83512253 C T 5:82808072 0.987972 544 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Burn and corrosion of head and neck 0.000198 6.8657 1.8449 VCAN rs61749613 5:83519351:A:G 5 83519351 A G 5:82815170 0.998562 6608 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitreoretinopathy;Wagner syndrome Headache 0.00103 -0.1848 0.0563 Cyst of Bartholin Gland 0.00035 6.797 1.901 VCAN rs2287926 5:83519589:G:A 5 83519589 G A 5:82815408 0.995328 32722 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory disorders of breast 0.00026 0.3684 0.1009 Persons encountering health services for examination and investigation 4.985e-05 -0.098 0.024 VCAN rs143368552 5:83519829:T:A 5 83519829 T A 5:82815648 0.998714 541 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Burn and corrosion of head and neck 0.000209 6.8167 1.8383 VCAN rs61754531 5:83520371:A:G 5 83520371 A G 5:82816190 0.994863 6289 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitreoretinopathy;Wagner syndrome Atypical mycobacterium lung infection 0.000349 2.3411 0.6546 Vascular dementia (multiple infarctations) 0.0003655 16.389 4.599 VCAN rs76418670 5:83520465:T:C 5 83520465 T C 5:82816284 0.989459 319 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of nerves at lower leg level 0.000254 16.1373 4.4117 VCAN rs309559 5:83537550:A:G 5 83537550 A G 5:82833369 0.998846 0.504061 93724 91462 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of thyroid 6.11e-05 0.4872 0.1216 Unspecified maternal hypertension 0.0003197 -0.391 0.109 VCAN rs61749614 5:83537607:A:G 5 83537607 A G 5:82833426 0.840406 52 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of other and unspecified intrathoracic organs 0.000199 22.1266 5.9466 VCAN rs188703 5:83538480:G:A 5 83538480 G A 5:82834299 0.997299 86761 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pregnancy, childbirth and the puerperium 0.000759 0.034 0.0101 Pain in thoracic spine 0.0002362 -0.126 0.034 VCAN rs160278 5:83539905:T:A 5 83539905 T A 5:82835724 0.998251 0.502885 93290 91464 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorder of thyroid, unspecified 8.19e-05 0.4895 0.1243 Generalized anxiety disorder 0.000214 -0.111 0.03 VCAN rs160278 5:83539905:T:G 5 83539905 T G 5:82835724 0.931002 456 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Problems related to medical facilities and other health care 0.000908 3.1761 0.9573 VCAN rs160277 5:83541812:G:T 5 83541812 G T 5:82837631 0.997544 86734 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pregnancy, childbirth and the puerperium 0.000713 0.0342 0.0101 Pain in thoracic spine 0.0002359 -0.126 0.034 EDIL3 rs138920492 5:84066493:C:G 5 84066493 C G 5:83362312 0.979741 11437 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psoriasis (vulgaris), strict definition 0.000255 0.9844 0.2692 Chronic gastritis 8.282e-05 1.048 0.266 RASA1 rs146525982 5:87268660:A:G 5 87268660 A G 5:86564477 0.99972 7182 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Capillary malformation-arteriovenous malformation;Parkes Weber syndrome;not provided Any gastric operation 0.000542 0.0911 0.0264 Other anaemias 0.0002379 1.339 0.364 RASA1 rs111840875 5:87268747:C:T 5 87268747 C T 5:86564564 0.965576 3171 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Capillary malformation-arteriovenous malformation;Parkes Weber syndrome;not provided;not specified Fracture of rib(s), sternum and thoracic spine 0.000971 -0.4758 0.1442 Undefined dementia (more controls excluded) 0.001147 6.775 2.083 RASA1 rs181630831 5:87362612:G:A 5 87362612 G A 5:86658429 0.986904 2398 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Capillary malformation-arteriovenous malformation;Parkes Weber syndrome Benign neoplasm: Choroid 0.000926 1.5856 0.4787 Colitis, primary sclerosing, strict definition 0.0009246 89.087 26.894 RASA1 rs377550978 5:87390824:A:G 5 87390824 A G 5:86686641 0.928671 236 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of breast (other cancers excluded from controls) 0.00142 2.4665 0.7732 ADGRV1 rs41311333 5:90619108:T:G 5 90619108 T G 5:89914925 0.99122 17319 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Psoriasis (vulgaris), strict definition 0.000218 0.8048 0.2177 Motor disorders (more controls excluded) 0.000537 3.164 0.914 ADGRV1 rs41303344 5:90627284:G:A 5 90627284 G A 5:89923101 0.999021 2841 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Usher syndrome;not provided;not specified Intestinal malabsorbtion 0.000234 1.6458 0.4474 Haemorrhage from respiratory passages 0.002652 3.06 1.018 ADGRV1 rs201236317 5:90627571:C:A 5 90627571 C A 5:89923388 0.982819 633 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of other connective and soft tissue (other cancers excluded from controls) 0.000672 5.1288 1.5081 ADGRV1 rs61744480 5:90629222:A:C 5 90629222 A C 5:89925039 0.998555 1340 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Amblyopia ex anopsia 0.000798 2.4684 0.7361 Burn and corrosion of ankle and foot 0.0007573 96.852 28.757 ADGRV1 rs199587998 5:90629537:C:A 5 90629537 C A 5:89925354 0.926426 93 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other benign neoplasm of uterus: Other parts/unspecified (other cancers excluded from controls) 0.00104 8.6551 2.6383 ADGRV1 rs200389929 5:90643845:C:T 5 90643845 C T 5:89939662 0.954363 0.000457282 0 168 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified and unspecified retinal disorders 4.97e-05 14.1544 3.489 ADGRV1 rs145556097 5:90647626:G:T 5 90647626 G T 5:89943443 0.995376 0.00223469 2 819 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Connective and other soft tissue, unspecified 9.21e-05 8.2135 2.1003 ADGRV1 rs190922596 5:90647666:A:C 5 90647666 A C 5:89943483 0.995699 845 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Connective and other soft tissue, unspecified 0.000107 7.9336 2.0477 ADGRV1 rs2366777 5:90647754:G:T 5 90647754 G T 5:89943571 0.99779 81837 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of lower leg, including ankle 0.000184 0.0633 0.0169 Other disorders of iris and ciliary body 0.001233 -0.211 0.065 ADGRV1 rs148097083 5:90647764:G:A 5 90647764 G A 5:89943581 0.999101 9440 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Infections of breast associated with childbirth 0.000705 0.9229 0.2724 Valvular operations 0.0009893 0.418 0.127 ADGRV1 rs200945405 5:90652372:G:A 5 90652372 G A 5:89948189 0.983788 338 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Emphysema 0.000716 4.9803 1.472 ADGRV1 rs72782753 5:90674063:A:G 5 90674063 A G 5:89969880 0.99903 1117 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal epilepsy 0.000137 2.1282 0.5581 ADGRV1 rs369603835 5:90681368:G:A 5 90681368 G A 5:89977185 0.911638 695 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disorders of white blood cells 0.000122 4.7702 1.2417 ADGRV1 rs17544552 5:90683701:C:T 5 90683701 C T 5:89979518 0.999758 18475 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified KRA_PSY_EATING 0.00239 0.2953 0.0973 0.0001671 -0.188 0.05 ADGRV1 rs41302834 5:90683751:G:A 5 90683751 G A 5:89979568 0.971601 923 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Follow-up care involving plastic surgery 0.000421 2.2789 0.6462 Dislocation, sprain and strain of joints and ligaments at ankle and foot level 0.0003862 13.608 3.834 ADGRV1 rs4916684 5:90683772:G:A 5 90683772 G A 5:89979589 0.999904 81844 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of lower leg, including ankle 0.000363 0.0603 0.0169 Sequelae of injuries of upper limb 0.001727 -0.098 0.031 ADGRV1 rs41303352 5:90683874:A:G 5 90683874 A G 5:89979691 0.999469 49321 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dissociative [conversion] disorders 0.00109 0.2853 0.0873 Alcohol abuse counselling and surveillance 0.001111 1.147 0.352 ADGRV1 rs4916685 5:90683881:C:T 5 90683881 C T 5:89979698 0.999628 81887 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specific joint derangements/joint disorders 0.000829 0.0497 0.0149 Valvular operations 0.001439 0.037 0.012 ADGRV1 rs16868972 5:90683933:G:T 5 90683933 G T 5:89979750 0.999951 50986 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lymphoid leukaemia 0.000911 0.2922 0.0881 Burn and corrosion of hip and lower limb, except ankle and foot 0.001584 0.765 0.242 ADGRV1 rs41308846 5:90684054:G:A 5 90684054 G A 5:89979871 0.996052 1892 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Febrile seizures, familial, 4;not provided;not specified Mixed specific developmental disorders 0.000262 3.4183 0.9365 Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.0002675 2.361 0.648 ADGRV1 rs16868974 5:90685794:C:T 5 90685794 C T 5:89981611 0.997785 0.00669592 28 2432 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Short stature, not elsewhere classified 9.56e-05 2.7716 0.7104 Other and unspecified disorders of white blood cells 5.279e-05 40.758 10.081 ADGRV1 rs181475191 5:90685825:A:C 5 90685825 A C 5:89981642 0.999025 14889 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter AION (anterior ischemic optic neuropathy) 0.000127 1.0623 0.2772 Mental and behavioural disorders due to sedatives or hypnotics 0.0003201 1.628 0.453 ADGRV1 rs200055351 5:90689978:T:C 5 90689978 T C 5:89985795 0.916258 0.000895511 2 327 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Third [oculomotor] nerve palsy 5.86e-05 13.2481 3.2968 ADGRV1 rs10037067 5:90690065:A:G 5 90690065 A G 5:89985882 0.99998 81914 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specific joint derangements/joint disorders 0.0011 0.0485 0.0149 Valvular operations 0.001704 0.036 0.012 ADGRV1 rs2366926 5:90692687:A:G 5 90692687 A G 5:89988504 0.999986 81873 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specific joint derangements/joint disorders 0.000908 0.0493 0.0149 Valvular operations 0.001796 0.036 0.012 ADGRV1 rs201733037 5:90694338:C:T 5 90694338 C T 5:89990155 0.996223 548 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other assisted single delivery 0.00294 6.5926 2.2164 ADGRV1 rs1878878 5:90694507:A:G 5 90694507 A G 5:89990324 0.999933 82406 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of lower leg, including ankle 0.000306 0.0611 0.0169 DVT of lower extremities 0.001601 0.055 0.018 ADGRV1 rs16869016 5:90704393:C:T 5 90704393 C T 5:90000210 0.995246 31411 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of skin 0.000424 -0.1029 0.0292 Diabetic ketoacidosis 3.818e-05 0.418 0.102 ADGRV1 rs111033530 5:90705420:G:A 5 90705420 G A 5:90001237 0.997547 6127 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck (other cancers excluded from controls) 0.00194 0.6349 0.2049 Dementia in other diseases classified elsewhere 0.0001248 9.466 2.467 ADGRV1 rs41308297 5:90706236:A:G 5 90706236 A G 5:90002053 0.991405 685 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Degeneration of macula and posterior pole 0.000896 0.8499 0.2559 Malignant neoplasm of larynx 0.0001673 370.814 98.521 ADGRV1 rs201586455 5:90706355:A:C 5 90706355 A C 5:90002172 0.933266 1102 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Persons encountering health services in circumstances related to reproduction 0.000118 -0.3754 0.0975 Carcinoma in situ of skin of trunk 0.002259 300.811 98.503 ADGRV1 rs13157270 5:90716562:G:A 5 90716562 G A 5:90012379 0.999613 0.105306 4028 34660 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter GI-bleeding 6.5e-06 -0.1748 0.0388 Pterygium 0.0003386 1.172 0.327 ADGRV1 rs114137750 5:90720961:C:T 5 90720961 C T 5:90016778 0.973763 7314 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Febrile seizures, familial, 1;Usher syndrome, type 2C;not provided;not specified Contraceptive management 0.000632 -0.1804 0.0528 Malignant neoplasm of liver and intrahepatic bile ducts 0.0001239 9.499 2.475 ADGRV1 rs16869032 5:90721054:G:A 5 90721054 G A 5:90016871 0.999823 49635 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Appendicitis, broad definition 0.00114 0.0564 0.0173 Alcohol abuse counselling and surveillance 0.0002979 1.314 0.363 ADGRV1 rs2366928 5:90728918:G:A 5 90728918 G A 5:90024735 0.999843 73745 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chondrocostal junction syndrome [Tietze] 0.00101 0.3046 0.0927 Chondrocostal junction syndrome [Tietze] 0.0003057 0.212 0.059 ADGRV1 rs41311343 5:90745073:T:C 5 90745073 T C 5:90040890 0.998999 12846 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Chlocystitis 0.00109 0.3175 0.0972 Anaemia in chronic diseases classified elsewhere 0.000701 7.042 2.078 ADGRV1 rs13171868 5:90745757:T:C 5 90745757 T C 5:90041574 0.985987 3592 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Chronic diseases of tonsils and adenoids 0.000183 -0.2319 0.062 Acne vulgaris 0.0004259 15.71 4.459 ADGRV1 rs10062026 5:90756472:G:A 5 90756472 G A 5:90052289 0.999585 82792 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain in joint 0.000433 0.0572 0.0163 Ectropion of eyelid 0.001288 0.275 0.085 ADGRV1 rs199839743 5:90763453:C:A 5 90763453 C A 5:90059270 0.995605 0.00234357 2 859 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Oher diseases of blood and blood-forming organs 4.51e-06 3.9303 0.857 ADGRV1 rs2460169 5:90777969:G:A 5 90777969 G A 5:90073786 0.959567 136 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of puberty 0.00117 19.5894 6.0363 ADGRV1 rs41304892 5:90791138:G:A 5 90791138 G A 5:90086955 0.904088 342 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Personal history of malignant neoplasm 0.000421 7.9277 2.2479 ADGRV1 rs79464236 5:90791344:C:G 5 90791344 C G 5:90087161 0.997531 3156 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Chalazion 0.00159 -0.6822 0.216 Multiple myeloma and malignant plasma cell neoplasms (other cancers excluded from controls) 0.000231 20.774 5.641 ADGRV1 rs2438374 5:90811291:A:G 5 90811291 A G 5:90107108 0.999651 7059 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inguinal hernia 0.00073 0.1726 0.0511 Inguinal hernia 0.0008859 0.086 0.026 ADGRV1 rs41303350 5:90840983:A:G 5 90840983 A G 5:90136800 0.907688 1063 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Chronic hepatitis NAS 0.000304 4.9466 1.3694 Malignant neoplasm of larynx 0.0004261 160.005 45.412 ADGRV1 rs2247870 5:90855772:G:A 5 90855772 G A 5:90151589 0.999484 0.55847 114564 90611 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rosacea 8.47e-05 0.1873 0.0476 Asthma 0.0001291 -0.038 0.01 ADGRV1 rs201254386 5:90855803:C:A 5 90855803 C A 5:90151620 0.998928 712 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sixth [abducent] nerve palsy 0.000387 4.5609 1.2853 ADGRV1 rs77469944 5:91150072:A:G 5 91150072 A G 5:90445889 0.997998 489 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hallux valgus (acquired) 0.000222 1.093 0.296 SLF1 rs76370969 5:94688530:G:C 5 94688530 G C 5:94024235 0.981833 4408 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental disorders, not otherwise specified 0.000135 0.811 0.2125 Migraine 0.0007262 2.415 0.715 TTC37 rs116690692 5:95482498:T:C 5 95482498 T C 5:94818202 0.965762 2574 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other menopausal disorders 0.00131 0.9652 0.3002 Medical abortion 0.0004581 4.273 1.219 TTC37 rs143346257 5:95503824:C:G 5 95503824 C G 5:94839528 0.951822 374 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Respiratory disorders in diseases classified elsewhere 0.000233 16.0417 4.3588 ELL2 rs146249322 5:95943025:T:C 5 95943025 T C 5:95278729 0.897155 0.000206866 2 74 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Agranulocytosis 3.27e-05 11.2426 2.7066 PCSK1 rs6235 5:96393194:C:G 5 96393194 C G 5:95728898 0.999137 74547 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gonarthrosis,primary 0.000116 0.0552 0.0143 Cardiomyopathy 0.0005967 0.138 0.04 PCSK1 rs6234 5:96393270:G:C 5 96393270 G C 5:95728974 0.999563 0.285069 30164 74567 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gonarthrosis,primary 8.95e-05 0.0561 0.0143 Cardiomyopathy 0.0004725 0.141 0.04 PCSK1 rs6232 5:96416081:T:C 5 96416081 T C 5:95751785 0.978465 12302 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Body mass index quantitative trait locus 12;not specified Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.000799 -0.1206 0.036 Radiculopathy 0.0006968 1.262 0.372 ERAP1 rs78649652 5:96788670:C:T 5 96788670 C T 5:96124373 0.994956 1518 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other respiratory diseases principally affecting the interstitium 0.000377 0.9809 0.2759 Medical observation and evaluation for suspected diseases and conditions 0 2.697 0 ERAP2 rs34261036 5:96895352:T:G 5 96895352 T G 5:96231056 0.951372 639 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiac arrest 0.000356 2.8423 0.796 CHD1 rs61759467 5:98892699:T:A 5 98892699 T A 5:98228403 0.99761 5076 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Vulva 0.000728 1.4694 0.4349 Other peripheral vascular diseases 0.000245 7.768 2.118 PAM rs2230458 5:102867328:G:C 5 102867328 G C 5:102203032 0.989602 5242 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Isolated proteinuria with specified morphological lesion 0.000141 1.4196 0.3729 Other and unspecified iridocyclitis 0.001245 12.885 3.991 PAM rs78753846 5:102946885:C:T 5 102946885 C T 5:102282589 0.989609 1399 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Papulosquamous disorders 0.000944 0.5653 0.1709 Other and unspecified myopathies 4.133e-05 48.492 11.828 PAM rs61736661 5:102974426:A:C 5 102974426 A C 5:102310130 0.994414 1398 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Papulosquamous disorders 0.000902 0.5661 0.1705 Other and unspecified myopathies 3.91e-05 46.84 11.389 SLC25A46 rs767725140 5:110755499:G:A 5 110755499 G A 5:110091199 0.938843 0.000824741 2 301 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Superficial injuries involving multiple body regions 7.2e-05 13.1176 3.3045 SLC25A46 rs114859074 5:110756712:G:A 5 110756712 G A 5:110092412 0.98209 621 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postydysenteric arthropathy 0.000147 10.6936 2.8174 SLC25A46 rs141213807 5:110761292:A:G 5 110761292 A G 5:110096992 0.98615 708 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Follow-up examination after treatment for malignant neoplasms 0.00107 1.7744 0.5424 SLC25A46 rs374899270 5:110761460:C:CTTA 5 110761460 C CTTA 5:110097160 0.93273 585 inframe_indel recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of the nervous system 0.0011 5.9453 1.8215 WDR36 rs145437203 5:111092362:T:C 5 111092362 T C 5:110428060 0.889963 390 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Heterophoria 0.000416 3.8104 1.0796 WDR36 rs35629723 5:111092387:C:G 5 111092387 C G 5:110428085 0.880808 0.0013283 2 486 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Polymyalgia rheumatica 4.29e-05 2.8541 0.6976 WDR36 rs115541547 5:111097096:G:A 5 111097096 G A 5:110432794 0.95294 0.000351127 0 129 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specified/unspecified necrotizing vasculopathies 3.07e-05 31.3852 7.5292 WDR36 rs62376783 5:111098750:C:T 5 111098750 C T 5:110434448 0.931902 1964 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary open angle glaucoma Failed attempted abortion 0.000173 4.0529 1.0792 Hepatic failure, not elsewhere classified 0.001057 81.344 24.838 WDR36 rs142088179 5:111100646:A:C 5 111100646 A C 5:110436345 0.93951 1592 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary open angle glaucoma Conjunctivitis (acute, non atopic) 0.00049 0.6931 0.1988 Intussusception 0.0009144 93.392 28.167 WDR36 rs11241095 5:111103810:A:G 5 111103810 A G 5:110439509 0.998819 0.386684 55430 86633 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic lower respiratory diseases 1.08e-05 -0.0471 0.0107 Anosmia 0.0001389 -0.326 0.086 WDR36 rs35703638 5:111106140:G:A 5 111106140 G A 5:110441839 0.865576 345 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glaucoma 1, open angle, G;Primary open angle glaucoma Complications of procedures, not elsewhere classified 0.00212 0.7094 0.2308 Internar derangement of knee 0 3.548 0 WDR36 rs34595252 5:111119021:A:G 5 111119021 A G 5:110454719 0.9298 524 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glaucoma 1, open angle, G;Primary open angle glaucoma;not specified Disturbances of smell and taste 0.00031 4.831 1.3394 0.0002312 267.171 72.557 EPB41L4A rs34106638 5:112204448:T:C 5 112204448 T C 5:111540145 0.994741 1490 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 0.000166 5.4861 1.457 Other congenital malformations of the digestive system 0.0005371 145.242 41.959 APC rs746592911 5:112767230:C:T 5 112767230 C T 5:112102927 0.876812 146 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autoimmune diseases related-to ILD 0.000308 1.2743 0.3531 APC rs755660899 5:112767333:G:T 5 112767333 G T 5:112103030 0.876812 146 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autoimmune diseases related-to ILD 0.000308 1.2743 0.3531 APC rs137854567 5:112819272:C:T 5 112819272 C T 5:112154969 0.986651 669 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter APC-Associated Polyposis Disorders;Familial adenomatous polyposis 1;Gardner syndrome;Hereditary cancer-predisposing syndrome;Pilocytic astrocytoma;not provided;not specified Postprocedural musculoskeletal disorders, not elsewhere classified 0.00125 2.5444 0.7884 Other intervertebral disc disorders 0 3.479 0 APC rs765308810 5:112835160:C:A 5 112835160 C A 5:112170857 0.941465 117 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Unspecified urinary incontinence 0.00156 5.3925 1.7047 APC rs148725540 5:112838767:A:G 5 112838767 A G 5:112174464 0.964546 335 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Extrapyramidal and movement disorders 0.000298 1.4741 0.4075 APC rs1801166 5:112839543:G:C 5 112839543 G C 5:112175240 0.988463 210 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Endometriosis of uterus 0.00198 2.5609 0.8278 APC rs459552 5:112841059:T:A 5 112841059 T A 5:112176756 0.994347 76533 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of other and unspecified sites (other cancers excluded from controls) 0.000138 -0.3155 0.0828 Benign neoplasm of other and unspecified sites (other cancers excluded from controls) 1.468e-05 -0.233 0.054 APC rs2229995 5:112843098:G:A 5 112843098 G A 5:112178795 0.996884 0.0379163 528 13402 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter APC-Associated Polyposis Disorders;Familial adenomatous polyposis 1;Familial multiple polyposis syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Malignant neoplasm of small intestine (other cancers excluded from controls) 8.65e-05 1.1023 0.2808 Long labour 0.002728 0.947 0.316 APC rs72541816 5:112843456:C:G 5 112843456 C G 5:112179153 0.996525 897 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Maternal care for known or suspected disproportion 0.000501 2.6846 0.7714 APC rs140868933 5:112843662:G:A 5 112843662 G A 5:112179359 0.995344 4753 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial adenomatous polyposis 1;Hereditary cancer-predisposing syndrome;not provided;not specified Chronic nephritic syndrome 0.000618 0.9146 0.2672 Alcohol abuse counselling and surveillance 0.002815 34.649 11.599 MCC rs17313892 5:113028992:T:A 5 113028992 T A 5:112364689 0.971338 0.0090776 26 3309 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Torsion of testis 7.47e-05 2.4282 0.613 Prolonged pregnancy 0.001106 9.617 2.948 MCC rs151039584 5:113064054:C:G 5 113064054 C G 5:112399751 0.991135 12529 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of head and neck 0.000735 0.9049 0.268 Vasomotor rhinitis (mode) 0.00141 2.093 0.656 MCC rs75148264 5:113340599:C:T 5 113340599 C T 5:112676296 0.985191 677 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Temporomandibular joint disorders 0.000545 1.3349 0.3861 KCNN2 rs76852708 5:114362934:T:TGCC 5 114362934 T TGCC 5:113698631 0.996237 91296 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General examination and investigation of persons without complaint and reported diagnosis 0.00021 0.0483 0.013 Atypical mycobacterium lung infection 0.0003078 -0.43 0.119 SEMA6A rs200578077 5:116446797:T:G 5 116446797 T G 5:115782493 0.969324 2903 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydrocele 0.000102 0.7099 0.1827 Myeloproliferative diseases 0.0009643 10.596 3.21 DMXL1 rs142000355 5:119133212:A:C 5 119133212 A C 5:118468907 0.986329 2078 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of head 0.000317 -0.4478 0.1244 Single delivery by caesarean section 0.0005052 4.161 1.196 DMXL1 rs148468898 5:119166670:G:T 5 119166670 G T 5:118502365 0.889152 0.000296689 2 107 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anoxic brain damage 2.17e-05 39.3341 9.2627 DMXL1 rs140340763 5:119221065:G:A 5 119221065 G A 5:118556760 0.993317 492 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of ovary (other cancers excluded from controls) 0.00232 1.2965 0.4257 HSD17B4 rs25640 5:119475838:G:A 5 119475838 G A 5:118811533 0.998062 91104 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.000757 0.174 0.0517 Premature separation of placenta [abruptio placentae] 4.935e-05 0.294 0.072 HSD17B4 rs11539471 5:119525243:T:C 5 119525243 T C 5:118860938 0.998423 28430 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bifunctional peroxisomal enzyme deficiency;Perrault syndrome;not provided;not specified Helminthiases 0.00163 0.5787 0.1837 Post-traumatic wound infection, not elsewhere classified 0.000322 1.954 0.543 HSD17B4 rs11205 5:119526018:A:G 5 119526018 A G 5:118861713 0.999226 91278 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and specified injuries of hip and thigh 0.000137 -0.4148 0.1088 Malignant neoplasm of urinary organs (other cancers excluded from controls) 2.124e-05 0.123 0.029 HSD17B4 rs28943592 5:119536489:C:T 5 119536489 C T 5:118872184 0.980972 309 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acne 0.00101 3.0404 0.925 LOX rs41407546 5:122077510:G:T 5 122077510 G T 5:121413205 0.922071 1716 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Hyperhidrosis 0.000242 2.6902 0.7329 Benign neoplasm: Oesophagus 0.0003626 187.18 52.491 LOX rs1800449 5:122077513:C:T 5 122077513 C T 5:121413208 0.998358 46414 missense_variant dominant Benign (likely)Benign no assertion criteria provided no_Criteria Other and unspecified glaucoma 0.00148 0.2834 0.0891 Leiomyoma of uterus 0.0003045 -0.121 0.034 SNCAIP rs28937592 5:122450708:C:T 5 122450708 C T 5:121786403 0.973269 2415 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson Disease, Dominant/Recessive;Parkinson disease, late-onset Superficial injury of ankle and foot 0.00091 0.9332 0.2813 Gonarthrosis,primary 0.0006644 2.563 0.753 SNCAIP rs55712196 5:122450972:G:C 5 122450972 G C 5:121786667 0.983511 3742 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson Disease, Dominant/Recessive;not specified Benign neoplasm: Connective and other soft tissue of lower limb, including hip (other cancers excluded from controls) 0.000574 1.7016 0.4941 Enthesopathies of lower limb, excluding foot 8.362e-06 6.235 1.399 SNCAIP rs140850272 5:122451264:G:A 5 122451264 G A 5:121786959 0.988214 0.00739817 32 2686 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson Disease, Dominant/Recessive Other bursitis of hip 6.33e-05 3.1095 0.7773 Alopecia areata 6e-05 37.794 9.418 CEP120 rs114280473 5:123378398:G:A 5 123378398 G A 5:122714092 0.9979 0.0139063 88 5021 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter JOUBERT SYNDROME 31;Short-rib thoracic dysplasia 13 with or without polydactyly Migraine, single triptan purchase ok & required. ICD-code if available is included 4.86e-05 0.279 0.0687 Impingement syndrome of shoulder 0.0002591 2.341 0.641 CEP120 rs114281792 5:123390067:T:C 5 123390067 T C 5:122725761 0.967525 248 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Kidney (other cancers excluded from controls) 0.000476 8.1855 2.3426 CEP120 rs189429890 5:123393331:C:T 5 123393331 C T 5:122729025 0.990406 1708 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyphaema and other vascular disorders of iris and ciliary body 0.000632 3.4108 0.998 Infective bursitis 0.001722 52.757 16.831 ALDH7A1 rs61757684 5:126545018:T:C 5 126545018 T C 5:125880710 0.965865 3774 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pyridoxine-dependent epilepsy;Seizures;not provided;not specified Symptoms and signs involving emotional state 0.0011 1.4149 0.4334 Desensitization to allergens 0.0002129 20.425 5.516 ALDH7A1 rs147940248 5:126550205:C:T 5 126550205 C T 5:125885897 0.971072 881 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Heterophoria 0.00207 1.7866 0.58 ALDH7A1 rs12514417 5:126552023:T:G 5 126552023 T G 5:125887715 0.994717 40977 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Allergic asthma (mode) (more controls excluded) 0.000626 0.1229 0.0359 Retinal breaks without detachment 0.0004881 0.36 0.103 LMNB1 rs36105360 5:126825998:C:T 5 126825998 C T 5:126161690 0.993249 5517 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Leukodystrophy, Adult-Onset;not provided Anomalies of pupillary function 0.000124 2.0227 0.5271 Anaemia in chronic diseases classified elsewhere 0.000187 24.302 6.505 MEGF10 rs3812054 5:127396735:G:A 5 127396735 G A 5:126732427 0.998687 47403 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parapsoriasis 0.000252 0.5213 0.1424 Inflammatory bowel disease 0.0003273 0.186 0.052 MEGF10 rs148663427 5:127396771:G:A 5 127396771 G A 5:126732463 0.989782 807 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myopathy, areflexia, respiratory distress, and dysphagia, early-onset Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.000349 0.6692 0.1872 Endocrine, nutritional and metabolic diseases 0 1.868 0 MEGF10 rs140563851 5:127420181:G:A 5 127420181 G A 5:126755873 0.961171 284 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other abnormalities of plasma proteins 0.00023 16.1296 4.3793 MEGF10 rs17164935 5:127455590:G:A 5 127455590 G A 5:126791282 0.997584 54749 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Female genital prolapse 0.000913 0.0849 0.0256 0.0006166 0.239 0.07 FBN2 rs146781484 5:128261843:C:T 5 128261843 C T 5:127597535 0.974686 550 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Frostbite 0.00125 8.4113 2.6067 FBN2 rs2291628 5:128273941:G:A 5 128273941 G A 5:127609633 0.981721 14457 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Congenital contractural arachnodactyly;not provided;not specified Benign mammary dysplasia 0.000388 0.2875 0.081 Nerve, nerve root and plexus disorders 0.0005654 0.372 0.108 FBN2 rs28763925 5:128277933:C:A 5 128277933 C A 5:127613625 0.931844 757 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Congenital contractural arachnodactyly;not specified Diabetic polyneuropathy 0.000386 4.834 1.362 Soft tissue disorders 2.054e-05 2.036 0.478 FBN2 rs148014419 5:128278775:C:T 5 128278775 C T 5:127614467 0.965845 0.000568881 0 209 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Stenosis and insufficiency of lacrimal passages 4.73e-05 5.5341 1.3602 FBN2 rs28763926 5:128278799:A:G 5 128278799 A G 5:127614491 0.952268 672 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Congenital contractural arachnodactyly;Connective tissue disorder;not provided;not specified Other specified/unspecified disorders of bone/cartilage 0.000138 4.7466 1.2454 Degeneration of nervous system due to alcohol 0.000756 106.216 31.533 FBN2 rs32209 5:128286799:T:C 5 128286799 T C 5:127622491 0.999207 17338 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Congenital contractural arachnodactyly;not provided;not specified Disorders of parathyroid gland 0.000252 0.2383 0.0651 Guttate psoriasis 0.001933 3.864 1.246 FBN2 rs56168072 5:128330606:C:T 5 128330606 C T 5:127666298 0.999217 4091 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Congenital contractural arachnodactyly;not provided;not specified Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs 0.00157 -0.7456 0.2358 Anosmia 0.0001354 22.859 5.99 FBN2 rs200837433 5:128330672:T:C 5 128330672 T C 5:127666364 0.994385 713 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Single spontaneous delivery 0.000922 0.409 0.1235 FBN2 rs78727187 5:128332993:G:T 5 128332993 G T 5:127668685 0.998926 0.00458915 8 1678 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Congenital contractural arachnodactyly;Connective tissue disorder;not specified Sleep apnoea 6.84e-05 0.4245 0.1066 Other and unspecified abdominal hernia 0.001685 52.471 16.706 FBN2 rs146997253 5:128338000:C:T 5 128338000 C T 5:127673692 0.994821 1844 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital contractural arachnodactyly Carcinoma in situ of skin of scalp and neck (other cancers excluded from controls) 0.000116 6.0247 1.5632 Personal history of risk-factors, not elsewhere classified 0.0003381 220.487 61.516 FBN2 rs154001 5:128349443:C:T 5 128349443 C T 5:127685135 0.995198 73569 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Finngen Rheumatological endpoints 0.00051 -0.0364 0.0105 Gonarthrosis,primary 0.0001775 -0.034 0.009 FBN2 rs34450503 5:128392029:C:G 5 128392029 C G 5:127727722 0.994762 815 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chromosomal abnormalities, not elsewhere classified 2e-04 6.7825 1.8239 FBN2 rs112428886 5:128408712:C:T 5 128408712 C T 5:127744405 0.99437 0.00745261 26 2712 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Congenital contractural arachnodactyly;Connective tissue disorder;not provided;not specified Diabethic neuropathy 9.92e-05 0.9641 0.2477 Endocarditis 8.369e-05 34.003 8.644 FBN2 rs28763954 5:128408776:G:A 5 128408776 G A 5:127744469 0.997866 0.00221836 0 815 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persistent mood disorders 1.32e-05 1.3624 0.3127 FBN2 rs13180243 5:128442304:G:A 5 128442304 G A 5:127777997 0.993947 51945 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism, levothyroxin purchases 0.00032 -0.0724 0.0201 Coxarthrosis, primary, with hip surgery 0.0001706 0.171 0.045 FBN2 rs146849637 5:128446604:C:T 5 128446604 C T 5:127782297 0.986521 517 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Traumatic ischaemia of muscle 0.000347 8.5269 2.3836 FBN2 rs117524265 5:128464822:A:G 5 128464822 A G 5:127800515 0.999707 0.0200388 164 7198 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Congenital contractural arachnodactyly;Connective tissue disorder;not provided;not specified Other and unspecified diseases of blood and blood-forming organs 3.51e-05 1.7121 0.4138 Other disorders of amniotic fluid and membranes 0.0003528 2.87 0.803 FBN2 rs147157552 5:128527886:G:A 5 128527886 G A 5:127863579 0.992757 410 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other bursitis, not elsewhere classified 0.000914 10.1256 3.0539 FBN2 rs62390671 5:128537401:G:A 5 128537401 G A 5:127873094 0.999932 12466 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Congenital contractural arachnodactyly;not provided;not specified Nonischemic cardiomyopathy 0.000774 0.5245 0.156 Gastric ulcer 0.0007414 1.114 0.33 ADAMTS19 rs142924298 5:129461622:T:TCCCGGC 5 129461622 T TCCCGGC 5:128797315 0.991791 28416 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Short stature, not elsewhere classified 0.000283 0.7592 0.2091 Dermatographic urticaria 0.0002084 1.002 0.27 HINT1 rs149782619 5:131165096:C:G 5 131165096 C G 5:130500789 0.957067 0.00106971 0 393 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Respiratory disorders in diseases classified elsewhere 2.06e-06 18.3919 3.8743 RAPGEF6 rs1064539 5:131429006:A:T 5 131429006 A T 5:130764699 0.988133 2587 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peripheral retinal degeneration 0.000482 1.8936 0.5425 Carcinoma in situ of skin of lower limb, including hip (other cancers excluded from controls) 0.0003843 181.584 51.141 SLC22A4 rs1050152 5:132340627:C:T 5 132340627 C T 5:131676320 0.99996 0.316502 36980 79299 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Chronic lower respiratory diseases 5.47e-13 -0.0812 0.0113 Asthma, hospital admissions , main diagnosis only 2.504e-08 -0.088 0.016 SLC22A5 rs139203363 5:132370006:G:A 5 132370006 G A 5:131705698 0.987081 285 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Migraine 0.000378 1.2887 0.3625 SLC22A5 rs11568513 5:132392606:G:A 5 132392606 G A 5:131728298 0.981663 0.000432785 0 159 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes without complications 7.49e-06 1.9308 0.4311 SLC22A5 rs28383480 5:132393676:G:T 5 132393676 G T 5:131729368 0.984069 0.000928174 0 341 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified disorders of muscle 3.35e-06 8.8647 1.9071 SLC22A5 rs28383481 5:132393688:G:A 5 132393688 G A 5:131729380 0.979871 292 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Injuries involving multiple body regions 0.000612 7.1761 2.0946 RAD50 rs28903085 5:132575843:A:C 5 132575843 A C 5:131911535 0.996157 377 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system 0.00167 8.1698 2.5994 RAD50 rs28903088 5:132579981:G:A 5 132579981 G A 5:131915673 0.970083 790 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary cancer-predisposing syndrome;not provided Pain and other conditions associated with female genital organs and menstrual cycle 0.000364 1.2112 0.3397 Other/unspecified cytomegaloviral diseases 0.0001674 407.814 108.353 RAD50 rs751781524 5:132579996:GT:G 5 132579996 GT G 5:131915688 0.97106 1128 pLoF unknown Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of inner ear 0.00111 -0.511 0.1567 RAD50 rs28903091 5:132588018:G:A 5 132588018 G A 5:131923710 0.997971 428 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Episodal and paroxysmal disorders 0.000312 0.4831 0.134 RAD50 rs776949511 5:132591228:G:A 5 132591228 G A 5:131926920 0.939405 379 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal blood-pressure reading, without diagnosis 0.000338 6.0357 1.6839 RAD50 rs145843634 5:132591315:A:G 5 132591315 A G 5:131927007 0.99404 2751 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary cancer-predisposing syndrome Metabolic disorders 0.00185 0.2122 0.0682 Maternal care for known or suspected fetal abnormality and damage 0.001033 4.295 1.309 RAD50 rs144890318 5:132595806:A:C 5 132595806 A C 5:131931498 0.814825 0.00123575 0 454 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vitiligo 4.17e-05 15.2602 3.7239 RAD50 rs61749630 5:132603489:G:C 5 132603489 G C 5:131939181 0.937256 249 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other congenital malformations of face and neck 0.000248 9.3183 2.5431 IL13 rs20541 5:132660272:A:G 5 132660272 A G 5:131995964 0.997119 0.631752 146944 85154 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Asthma, hospital admissions , main diagnosis only 4.41e-09 -0.081 0.0138 Asthma, hospital admissions , main diagnosis only 8.725e-08 -0.052 0.01 SHROOM1 rs144919403 5:132823884:C:T 5 132823884 C T 5:132159576 0.971423 3492 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Somatoform disorder 0.000651 0.574 0.1684 0.0002464 15.363 4.191 AFF4 rs139490054 5:132883385:T:C 5 132883385 T C 5:132219077 0.992735 2596 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ovarian dysfunction 0.00219 1.0723 0.3501 Other disorders of male genital organs 0.002255 42.131 13.793 AFF4 rs200457433 5:132889142:G:A 5 132889142 G A 5:132224834 0.988558 349 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic maculopathy 0.000111 2.7834 0.7201 AFF4 rs141402018 5:132934392:G:C 5 132934392 G C 5:132270084 0.98168 537 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizophrenia or delusion 0.000159 1.1515 0.3049 AFF4 rs137880283 5:132934511:T:A 5 132934511 T A 5:132270203 0.982545 698 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Elevated blood glucose level 0.0013 2.537 0.789 AFF4 rs147286490 5:132934593:T:G 5 132934593 T G 5:132270285 0.98844 0.00109149 0 401 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Visual impairment including blindness (binocular or monocular) 4.89e-05 4.6588 1.1473 HSPA4 rs61755723 5:133099561:C:G 5 133099561 C G 5:132435253 0.976163 1497 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Generalized epilepsy, mode (most common among epilepsy diagnosis) 0.000495 1.5633 0.4488 Artificial opening status 0.001586 57.202 18.11 HSPA4 rs61749631 5:133101807:C:T 5 133101807 C T 5:132437499 0.944282 0.00946683 60 3418 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Organic, including symptomatic, mental disorders 5e-05 0.4015 0.099 Other disorders of urethra and urinary system 0.000499 1.605 0.461 FSTL4 rs140221506 5:133220831:C:T 5 133220831 C T 5:132556523 0.963166 0.00800244 36 2904 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Allergic rhinitis 2.94e-05 0.5295 0.1267 Vertigo of central origin 0.001124 72.196 22.164 CDKL3 rs200671028 5:134308718:T:C 5 134308718 T C 5:133644409 0.979672 5164 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications associated with artificial fertilization 0.000102 2.0681 0.5321 Fracture of lumbar spine and pelvis 0.0003511 4.064 1.137 PITX1 rs479632 5:135028828:C:G 5 135028828 C G 5:134364518 0.999776 0.256769 24264 70070 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of digestive organs 2.41e-05 0.1068 0.0253 Acute suppurative otitis media 4.749e-05 -0.137 0.034 PITX1 rs200888898 5:135031416:T:G 5 135031416 T G 5:134367106 0.976018 552 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other sleepdisorders 0.000447 2.1076 0.6003 TGFBI rs121909217 5:136062674:G:C 5 136062674 G C 5:135398363 0.996267 407 missense_variant dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Colectomy operation 0.000972 2.1281 0.6452 SPOCK1 rs111393448 5:137498449:T:C 5 137498449 T C 5:136834138 0.999321 3424 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Presbyopia 0.000156 1.582 0.4183 Other specified and unspecified strabismus 0.002032 47.136 15.277 KLHL3 rs2905608 5:137692340:T:C 5 137692340 T C 5:137028029 0.999507 0.761046 212836 66763 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to certain psychosocial circumstances 8.14e-06 -0.2191 0.0491 Problems related to certain psychosocial circumstances 3.552e-05 -0.124 0.03 MYOT rs202005786 5:137870700:T:C 5 137870700 T C 5:137206389 0.995634 1277 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myofibrillar myopathy 3 Benign neoplasm: Parotid gland (other cancers excluded from controls) 0.000252 1.828 0.4995 Subjective visual disturbances 3.154e-05 12.578 3.022 BRD8 rs79921495 5:138145841:A:C 5 138145841 A C 5:137481530 0.974199 483 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Heart failure,strict 0.000499 0.8445 0.2426 KIF20A rs3734116 5:138181443:G:A 5 138181443 G A 5:137517132 0.991561 8249 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified urticaria 0.00171 -0.3006 0.0959 Gonarthrosis, primary, with knee surgery 0.0005418 1.171 0.339 KDM3B rs34608821 5:138391480:G:T 5 138391480 G T 5:137727169 0.992374 472 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gout, strict definition 0.000431 2.4706 0.7018 CTNNA1 rs28363394 5:138812250:C:T 5 138812250 C T 5:138147939 0.985642 0.000944506 0 347 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain in limb 8.32e-05 1.0775 0.2738 CTNNA1 rs150893072 5:138824559:G:C 5 138824559 G C 5:138160248 0.983768 7023 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified ILD differential diagnosis 0.000919 -0.0848 0.0256 Cholangitis (primary sclerosing, PSC) 0.0005314 6.013 1.736 CTNNA1 rs202131041 5:138827578:C:T 5 138827578 C T 5:138163267 0.963148 354 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Peripheral nerves and autonomic nervous system 0.00022 9.8396 2.6633 CTNNA1 rs138782455 5:138904362:C:T 5 138904362 C T 5:138240051 0.984675 0.00436868 10 1595 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Examination and observation for other reasons 1.31e-05 0.5056 0.116 Melanocytic naevi of scalp and neck (other cancers excluded from controls) 0.0006714 120.014 35.288 SIL1 rs751236516 5:139026936:G:GTCTT 5 139026936 G GTCTT 5:138362625 0.979933 0.000977169 0 359 pLoF recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Dermatopolymyositis (FG) 3.78e-05 15.2958 3.7122 SIL1 rs115800498 5:139042705:G:A 5 139042705 G A 5:138378394 0.991065 733 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Marinesco-Sjögren syndrome;not provided;not specified Mental and behavioural disorders due to tobacco 0.000576 2.4442 0.71 Fracture at wrist and hand level 0.0006909 10.82 3.189 SIL1 rs11555154 5:139127849:G:C 5 139127849 G C 5:138463538 0.992598 30235 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Marinesco-Sjögren syndrome;not specified Vasculitis limited to skin, not elsewhere classified 0.000412 0.6194 0.1754 Vasculitis limited to skin, not elsewhere classified 0.0004126 1.662 0.471 PROB1 rs200694387 5:139394302:G:C 5 139394302 G C 5:138729991 0.988411 0.00749072 22 2730 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathies in other diseases classified elsewhere 3.4e-06 2.4312 0.5234 Helminthiases 0.001199 71.728 22.145 PROB1 rs547099804 5:139395050:G:A 5 139395050 G A 5:138730739 0.925245 986 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Calculus of lower urinary tract 0.000809 2.484 0.7415 TMEM173 rs1131769 5:139478334:T:C 5 139478334 T C 5:138857919 0.992551 42046 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hepatic failure, not elsewhere classified 0.000224 0.4409 0.1195 Other and unspecified erythematous conditions 0.0004762 -0.249 0.071 NRG2 rs188534354 5:140043017:C:T 5 140043017 C T 5:139422602 0.964501 486 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bacterial, viral and other infectious agents 0.000549 2.5845 0.7479 SRA1 rs5871740 5:140552044:C:CG 5 140552044 C CG 5:139931629 0.998927 85540 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.00172 -0.1651 0.0527 Other inflammatory liver diseases 0.0001803 0.208 0.056 NDUFA2 rs35672074 5:140647544:G:C 5 140647544 G C 5:140027129 0.993376 3051 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Benign neoplasm of colon, rectum, anus and anal canal (other cancers excluded from controls) 0.000468 -0.3517 0.1005 Malaise and fatigue 7.999e-05 5.256 1.332 HARS rs147288996 5:140677924:C:T 5 140677924 C T 5:140057509 0.99973 4438 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Usher syndrome, type 3B;not specified Male infertility 0.000971 0.985 0.2986 0.000235 3.944 1.072 HARS rs138582560 5:140679802:G:A 5 140679802 G A 5:140059387 0.984046 286 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Calcaneal spur 0.000661 11.2436 3.302 HARS rs78741041 5:140691291:G:T 5 140691291 G T 5:140070876 0.952201 954 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrophy of breast 0.00011 1.5329 0.3964 HARS2 rs186043734 5:140691655:C:G 5 140691655 C G 5:140071240 0.999571 4435 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinitis pigmentosa-deafness syndrome;not provided;not specified Male infertility 0.00101 0.9791 0.2978 Coronary angiopasty 0.0007661 2.091 0.621 PCDHAC1 rs150254638 5:140978974:G:A 5 140978974 G A 5:140358559 0.992448 477 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Chorioretinal inflammation 0.000894 4.6895 1.4116 PCDHAC1 rs79247475 5:140982540:C:G 5 140982540 C G 5:140362125 0.978177 0.0187077 154 6719 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adhesive middle ear disease 9.62e-05 1.7727 0.4545 Thyroiditis, unspecified 0.000518 15.898 4.58 PCDHB2 rs1047372 5:141097069:G:A 5 141097069 G A 5:140476653 0.998278 36774 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lens 0.000427 -0.0683 0.0194 Benign neoplasm: Pituitary gland, craniopharyngeal duct (other cancers excluded from controls) 0.0001555 0.825 0.218 PCDHB4 rs149340599 5:141122851:G:C 5 141122851 G C 5:140502433 0.978011 1051 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paraplegia, diplegia of upper limbs 0.00022 4.2693 1.1553 Bursitis of shoulder 0.001223 69.383 21.457 PCDHB4 rs111984976 5:141123449:A:G 5 141123449 A G 5:140503031 0.95048 382 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pruritus 0.000651 2.8458 0.8347 PCDHB4 rs246669 5:141123655:A:G 5 141123655 A G 5:140503237 0.998159 0.182739 12514 54622 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy 5.98e-05 -0.1108 0.0276 Hordeolum and other deep inflammation of eyelid 0.001114 0.435 0.133 PCDHB7 rs17844473 5:141174729:G:T 5 141174729 G T 5:140554310 0.985485 2652 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of wrist and hand 0.000208 1.9105 0.515 Open wound of ankle and foot 0.001075 10.145 3.102 PCDHB8 rs202152706 5:141178198:T:C 5 141178198 T C 5:140557779 0.997197 32102 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemangioma and lymphangioma, any site (other cancers excluded from controls) 0.00188 -0.2457 0.079 Other and unspecified tonssillitis 0.0004026 0.263 0.074 PCDHB8 rs17844499 5:141179769:C:T 5 141179769 C T 5:140559350 0.995104 27371 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hearing loss 0.000706 0.1625 0.048 Other and unspecified tonssillitis 0.0002149 0.327 0.088 PCDHB11 rs799834 5:141201358:C:G 5 141201358 C G 5:140580931 0.999111 84649 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Localized swelling, mass and lump of skin and subcutaneous tissue 0.000197 0.0927 0.0249 Localized swelling, mass and lump of skin and subcutaneous tissue 0.0003454 0.09 0.025 PCDHGA10 rs62378454 5:141415363:C:T 5 141415363 C T 5:140794930 0.977936 0.00251233 2 921 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carpal tunnel syndrome 6.83e-06 0.7602 0.169 DIAPH1 rs200735096 5:141573865:C:T 5 141573865 C T 5:140953432 0.990125 0.00996494 74 3587 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deafness, autosomal dominant 1;Seizures, cortical blindness, and microcephaly syndrome Chronic rhinitsi, nasopharyngitis and pharyngitis 8.22e-05 0.4485 0.1139 Benign neoplasm: Other and unspecified parts of small intestine 0.0001732 23.909 6.367 DIAPH1 rs189809247 5:141574081:C:A 5 141574081 C A 5:140953648 0.997771 1211 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Mixed;not provided;not specified Benign neoplasm of other and unspecified endocrine glands (other cancers excluded from controls) 0.000147 1.5836 0.4171 Cardiovascular diseases (excluding rheumatic etc) 0 2.562 0 DIAPH1 rs182139018 5:141574114:C:T 5 141574114 C T 5:140953681 0.989096 786 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 2 diabetes with ketoacidosis 0.000322 4.7334 1.316 DIAPH1 rs193036129 5:141576268:C:T 5 141576268 C T 5:140955835 0.99692 2632 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Deafness, autosomal dominant 1;Nonsyndromic Hearing Loss, Mixed;Seizures, cortical blindness, and microcephaly syndrome;not provided;not specified Biomechanical lesions, not elsewhere classified 0.000815 1.5073 0.4503 7.441e-05 3.075 0.776 PCDH1 rs75207818 5:141854406:G:A 5 141854406 G A 5:141233971 0.990431 598 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis, 0.000509 0.7461 0.2146 Other juvenile arthritis 0.001808 48.696 15.608 PCDH1 rs12517385 5:141869429:G:A 5 141869429 G A 5:141248994 0.993326 3835 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Short bones of lower limb 0.000202 3.1936 0.8594 COPD, hospital admissions 0.0004173 2.492 0.706 PCDH12 rs62380003 5:141945401:T:TGCTGCTGCTGCTGCTGCC 5 141945401 T TGCTGCTGCTGCTGCTGCC 5:141324966 0.971445 15924 inframe_indel recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kyphosis 0.000628 1.2207 0.357 Benign neoplasm of mouth and pharynx 0.0006326 1.286 0.376 PCDH12 rs114449118 5:141956117:C:T 5 141956117 C T 5:141335682 0.974646 4018 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of eye and adnexa 0.000731 0.6248 0.185 Lagophthalmos 9.986e-05 31.386 8.066 PCDH12 rs164075 5:141956699:G:T 5 141956699 G T 5:141336264 0.996158 0.504573 93374 92000 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic maculopathy 4.11e-06 -0.1792 0.0389 Chronic lower respiratory diseases 0.0001275 0.033 0.008 PCDH12 rs78397925 5:141957002:T:C 5 141957002 T C 5:141336567 0.971911 0.00659793 24 2400 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified acne 5.02e-05 4.7051 1.1604 Renal failure 0.0004783 5.248 1.503 PCDH12 rs151002555 5:141957070:G:A 5 141957070 G A 5:141336635 0.929142 459 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intussusception 0.000454 7.7735 2.2169 SPRY4 rs139512218 5:142314456:G:T 5 142314456 G T 5:141694021 0.948463 2425 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypogonadotropic hypogonadism 17 with or without anosmia;not specified Other disorders of adrenal gland 0.000704 1.6874 0.4981 Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.002524 6.493 2.15 SPRY4 rs148983803 5:142314552:C:T 5 142314552 C T 5:141694117 0.988999 0.00107244 0 394 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of continuity of bone 9.8e-05 4.1385 1.0624 SPRY4 rs78310959 5:142314648:T:C 5 142314648 T C 5:141694213 0.900848 0.00097989 4 356 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Persons encountering health services for other counselling and medical advice, not elsewhere classified 5.75e-05 0.8495 0.2112 Benign neoplasm of thyroid gland 0.0002663 259.182 71.085 FGF1 rs17223632 5:142614066:C:T 5 142614066 C T 5:141993631 0.929068 847 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of head 0.000171 3.8347 1.0204 0.0004262 3.496 0.992 NR3C1 rs56149945 5:143399752:T:C 5 143399752 T C 5:142779317 0.994236 6724 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter GLUCOCORTICOID RECEPTOR POLYMORPHISM;Glucocorticoid resistance, generalized Other and unspecified disease of Bartholin gland 0.000752 0.898 0.2665 0.0003471 2.177 0.609 NR3C1 rs6190 5:143400772:C:T 5 143400772 C T 5:142780337 0.998208 7800 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glucocorticoid resistance, generalized Inguinal hernia 0.000789 0.1621 0.0483 Other orthopaedic follow-up care 0.001153 4.626 1.423 GRXCR2 rs71594518 5:145872676:C:T 5 145872676 C T 5:145252239 0.998438 0.0298077 356 10595 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mood disorders 2.5e-05 -0.1463 0.0347 Dysplasia of cervi uteri 0.0006233 1.131 0.331 GRXCR2 rs151087704 5:145872749:G:C 5 145872749 G C 5:145252312 0.99472 383 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Poisoning by narcotics and psychodysleptics [hallucinogens] 0.000123 10.9152 2.8427 GRXCR2 rs34892428 5:145872814:C:T 5 145872814 C T 5:145252377 0.998448 0.0297859 356 10587 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mood disorders 3.23e-05 -0.1444 0.0347 Dysplasia of cervi uteri 0.0006233 1.131 0.331 LARS rs10988 5:146120433:C:T 5 146120433 C T 5:145499996 0.998491 80116 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at forearm level 0.000364 0.3972 0.1114 Injury of muscle and tendon at forearm level 0.0004188 0.438 0.124 LARS rs34823161 5:146124001:T:C 5 146124001 T C 5:145503564 0.949417 1927 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Enterocolitis due to Clostridium difficile 0.000279 1.2145 0.3342 Abnormal findings on diagnostic imaging of breast 0.0005957 110.046 32.05 LARS rs61732383 5:146129073:T:C 5 146129073 T C 5:145508636 0.998479 80114 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at forearm level 0.000364 0.3972 0.1114 Injury of muscle and tendon at forearm level 0.0004192 0.438 0.124 LARS rs150148403 5:146129081:C:T 5 146129081 C T 5:145508644 0.991413 0.00982612 34 3576 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Chronic hepatitis, not elsewhere classified 6.69e-06 2.0539 0.4561 Acute and transient psychotic disorders 0.001042 10.015 3.054 LARS rs112912805 5:146130068:C:T 5 146130068 C T 5:145509631 0.991989 5156 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 0.000259 1.1412 0.3124 Chronic rhinitsi, nasopharyngitis and pharyngitis 0.0005414 2.592 0.749 LARS rs112954500 5:146171959:T:C 5 146171959 T C 5:145551522 0.938634 689 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Retinal vein occlusion (central or branch) 0.00069 4.4785 1.3197 Psychiatric comorbidites (Asthma/COPD) 4.156e-06 -3.697 0.803 RP11-449H3.3 rs28994879 5:146339202:C:T 5 146339202 C T 5:145718765 0.990379 8882 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;not specified Primary open-angle glaucoma, strict 0.000358 -0.3472 0.0973 Pregnancy examination and test 0.0002956 1.636 0.452 GPR151 rs114285050 5:146515831:G:A 5 146515831 G A 5:145895394 0.989111 6040 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Noninflammatory disorders of female genital tract 0.00032 -0.1306 0.0363 Olecranon bursitis 0.0007936 5.152 1.536 PPP2R2B rs756684891 5:146590066:T:G 5 146590066 T G 5:145969629 0.924917 206 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Small cell lung cancer 0.00221 12.1614 3.9733 PPP2R2B rs150981315 5:146638334:T:C 5 146638334 T C 5:146017897 0.946731 362 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Respiratory and cardiovascular disorders specific to the perinatal period 0.000213 12.6295 3.4103 SPINK1 rs141634296 5:147828022:C:T 5 147828022 C T 5:147207585 0.981642 236 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenia gravis 0.000387 13.5935 3.8301 SPINK1 rs111966833 5:147828053:G:A 5 147828053 G A 5:147207616 0.959186 1211 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of skin of lower limb, including hip 0.000145 5.631 1.482 SPINK1 rs17107315 5:147828115:T:C 5 147828115 T C 5:147207678 0.9984 0.0162226 122 5838 missense_variant both Conflicting interpretations of pathogenicity, risk factor risk factor criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary pancreatitis;Pancreatitis, chronic, susceptibility to;not provided Acute pancreatitis 8.85e-15 1.0274 0.1325 Cystic kidney disease 6.283e-05 12.236 3.058 SPINK5 rs17860502 5:148086438:G:A 5 148086438 G A 5:147466001 0.999776 0.0557585 1220 19265 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Netherton syndrome;not specified Fibroblastic disorders 6.33e-05 -0.2292 0.0573 Obesity 0.0006261 0.41 0.12 SPINK5 rs201812473 5:148089570:G:A 5 148089570 G A 5:147469133 0.994676 597 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of lower limb, including hip (other cancers excluded from controls) 0.000689 5.0406 1.4852 SPINK5 rs6892205 5:148095823:A:G 5 148095823 A G 5:147475386 0.999283 91288 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Paranoid personality disorder 0.000314 -0.3037 0.0843 Hypertensive diseases (excluding secondary) 4.75e-05 0.036 0.009 SPINK5 rs142558269 5:148095825:C:T 5 148095825 C T 5:147475388 0.950849 1052 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Netherton syndrome;not provided Type 2 diabetes 0.000179 0.3952 0.1055 Other specified disorders of muscle 0.0007471 108.082 32.056 SPINK5 rs34482796 5:148097988:C:T 5 148097988 C T 5:147477551 0.999403 91296 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Paranoid personality disorder 0.000311 -0.304 0.0843 Hypertensive diseases (excluding secondary) 4.816e-05 0.036 0.009 SPINK5 rs2303063 5:148100464:G:A 5 148100464 G A 5:147480027 0.999844 91189 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Paranoid personality disorder 0.000198 -0.3137 0.0843 Hypertensive diseases (excluding secondary) 3.118e-05 0.036 0.009 SPINK5 rs2303064 5:148100517:G:A 5 148100517 G A 5:147480080 0.999044 45308 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments at neck level 0.000952 0.1643 0.0497 Malignant neoplasm of colon (other cancers excluded from controls) 6.107e-05 0.394 0.098 SPINK5 rs2303067 5:148101392:A:G 5 148101392 A G 5:147480955 0.99982 91131 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Paranoid personality disorder 0.000129 -0.3227 0.0843 Hypertensive diseases (excluding secondary) 8.526e-05 0.034 0.009 SPINK5 rs142227576 5:148114438:G:A 5 148114438 G A 5:147494001 0.974523 0.00134735 0 495 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Short bones of lower limb (other cancers excluded from controls) 5.03e-05 14.2056 3.5038 SPINK5 rs3777134 5:148118456:G:A 5 148118456 G A 5:147498019 0.999614 84869 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of lower leg 0.000586 0.1368 0.0398 Atrial fibrillation and flutter 0.0001488 0.044 0.012 SPINK5 rs181639116 5:148118988:A:G 5 148118988 A G 5:147498551 0.945501 1256 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Netherton syndrome;not provided Hypoglycaemia, other or unspecified 0.00125 1.5141 0.4692 Varicose veins of other sites 3.963e-05 39.672 9.653 SPINK5 rs2303070 5:148120328:G:T 5 148120328 G T 5:147499891 0.997019 29399 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Netherton syndrome;not specified Malignant neoplasm of testis 0.000627 0.6924 0.2025 Alzheimer's disease (undefined) 0.0003651 2.248 0.631 SPINK5 rs3188691 5:148127020:A:G 5 148127020 A G 5:147506583 0.833439 698 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Netherton syndrome Inflammation of lacrimal passages (chronic) 0.000252 5.9978 1.6384 Pulmonary oedema 0.0002295 199.386 54.121 SPINK5 rs17705005 5:148127030:A:G 5 148127030 A G 5:147506593 0.993085 17320 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Netherton syndrome Hyperkalaemia 0.000256 0.6263 0.1713 Colon adenocarcinoma (other cancers excluded from controls) 0.0009087 1.213 0.366 FBXO38 rs760815624 5:148406307:G:A 5 148406307 G A 5:147785870 0.989853 347 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Abnormal involuntary movements 0.000126 3.0543 0.7964 FBXO38 rs116266000 5:148427635:C:T 5 148427635 C T 5:147807198 0.848299 170 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Guillain-Barre syndrome 0.000138 18.8651 4.9497 FBXO38 rs112383068 5:148438493:C:A 5 148438493 C A 5:147818056 0.958091 0.000571603 0 210 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertensive diseases (excluding secondary) 3.57e-05 0.9742 0.2357 FBXO38 rs143682696 5:148442127:G:A 5 148442127 G A 5:147821690 0.992752 644 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumoconiosis due to asbestos and other mineral fibres 0.000246 6.4736 1.7658 ADRB2 rs1042713 5:148826877:G:A 5 148826877 G A 5:148206440 0.999174 89883 missense_variant both drug response drug response reviewed by expert panel Criteria_multSubmitter Polycystic ovarian syndrome 0.000183 -0.252 0.0673 Other specified disorders of kidney and ureter 0.001226 0.239 0.074 ADRB2 rs201257377 5:148827037:A:G 5 148827037 A G 5:148206600 0.975669 3166 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhagic and haematological disorders of fetus and newborn 0.00157 2.3807 0.753 Idiopathic pulmonary fibrosis (attempt to specificity) 0.001323 8.455 2.633 ADRB2 rs1800888 5:148827322:C:T 5 148827322 C T 5:148206885 0.995635 1818 missense_variant both drug response drug response no assertion criteria provided no_Criteria Beta-2-adrenoreceptor agonist, reduced response to Visual impairment including blindness (binocular or monocular) 0.00112 1.3681 0.4197 Secondary polycythaemia 0.0008679 93.213 27.99 ADRB2 rs200042760 5:148827391:A:G 5 148827391 A G 5:148206954 0.978181 1590 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at shoulder and upper arm level 0.000161 0.6477 0.1717 Depression medications 0.000425 2.061 0.585 SH3TC2 rs146920285 5:149004892:T:A 5 149004892 T A 5:148384455 0.822514 144 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Agranulocytosis 0.000354 6.0008 1.6798 SH3TC2 rs142451273 5:149007006:T:C 5 149007006 T C 5:148386569 0.930415 152 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other respiratory disorders and diseases 0.000593 3.3066 0.9627 SH3TC2 rs55853803 5:149008857:C:T 5 149008857 C T 5:148388420 0.982839 8199 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;not specified Alcohol dependence 0.000615 0.263 0.0768 Ascites 0.001871 3.856 1.24 SH3TC2 rs17722209 5:149026823:T:C 5 149026823 T C 5:148406386 0.998658 74662 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension, essential 0.0018 -0.037 0.0119 Hypertension 0.0005455 -0.044 0.013 SH3TC2 rs80338933 5:149026872:G:A 5 149026872 G A 5:148406435 0.981023 0.000876458 0 322 pLoF both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Single spontaneous delivery 7.72e-05 0.7303 0.1848 SH3TC2 rs369977771 5:149028125:C:T 5 149028125 C T 5:148407688 0.898986 158 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Burn and corrosion of ankle and foot 0.000977 20.5204 6.2237 SH3TC2 rs6874630 5:149028329:G:A 5 149028329 G A 5:148407892 0.96465 0.00852777 22 3111 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Disorders of choroid and retina 6.38e-05 0.3056 0.0764 Thrombocytopenia, unspecified 0.0001378 23.019 6.038 SH3TC2 rs6875902 5:149028330:C:A 5 149028330 C A 5:148407893 0.992112 53871 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of binocular vision 0.00118 0.4925 0.1518 Other disorders of binocular vision 0.0001656 1.013 0.269 SH3TC2 rs200967041 5:149028434:G:A 5 149028434 G A 5:148407997 0.912671 324 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Long bones of lower limb (other cancers excluded from controls) 0.000596 7.1679 2.0877 SH3TC2 rs17722293 5:149042711:C:T 5 149042711 C T 5:148422274 0.999112 1821 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;Mononeuropathy of the Median Nerve;not specified Evidence of alcohol involvement determined by blood alcohol level 0.000713 4.9598 1.4655 Other symptoms and signs involving the circulatory and respiratory systems 0.002668 35.086 11.682 SH3TC2 rs80359890 5:149042718:A:G 5 149042718 A G 5:148422281 0.98814 799 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Other necrotizing vasculopathies 0.000908 2.1671 0.6532 SH3TC2 rs146162276 5:149052156:T:G 5 149052156 T G 5:148431719 0.998345 2352 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;not specified Pterygium 0.00211 1.8344 0.5966 Injury of nerves at lower leg level 0.0009237 92.201 27.832 SH3TC2 rs141649676 5:149052214:T:C 5 149052214 T C 5:148431777 0.990791 1114 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;not specified Other secondary coxarthrosis 0.00197 2.658 0.8588 Parapsoriasis 0.001932 47.949 15.465 PPARGC1B rs7732671 5:149832680:G:C 5 149832680 G C 5:149212243 0.9917 0.0479357 886 16725 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Obesity, variation in Chronic Coagulation defects 3.32e-05 0.9859 0.2376 Unspecified acute lower respiratory infection 0.0001789 1.101 0.294 PPARGC1B rs150637009 5:149840090:G:A 5 149840090 G A 5:149219653 0.971986 7337 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for other conditions predominantly related to pregnancy 0.000353 0.3777 0.1057 Dyspnoea 0.0002023 0.88 0.237 PDE6A rs138315990 5:149860929:C:A 5 149860929 C A 5:149240492 0.85775 140 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Connective and other soft tissue of lower limb, including hip 0.00105 11.4709 3.5017 Eosinophilia 0.0005404 144.008 41.622 PDE6A rs78775072 5:149884543:G:A 5 149884543 G A 5:149264106 0.94168 5818 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Acquired absence of organs, not elsewhere classified 0.000738 2.2198 0.6577 Arterial embolism and thrombosis of lower extremity artery 2.515e-05 15.352 3.644 PDE6A rs17711594 5:149896500:T:G 5 149896500 T G 5:149276063 0.980229 6425 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not specified Mucosal proctocolitis 0.000118 0.5683 0.1476 Pneumoconiosis due to asbestos and other mineral fibres 0.0004657 14.86 4.246 PDE6A rs114973968 5:149921690:G:A 5 149921690 G A 5:149301253 0.996944 666 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other necrotizing vasculopathies (FG) 0.000389 2.809 0.7919 SLC26A2 rs114260147 5:149980375:C:G 5 149980375 C G 5:149359938 0.98888 343 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other Chron's disease 0.000189 4.3247 1.1582 SLC26A2 rs104893915 5:149980428:C:T 5 149980428 C T 5:149359991 0.973475 107 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other congenital malformations of peripheral vascular system 0.000235 32.0904 8.7241 SLC26A2 rs78676079 5:149981067:C:T 5 149981067 C T 5:149360630 0.991598 7769 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Achondrogenesis;Achondrogenesis, type IB;Atelosteogenesis;Atelosteogenesis type 2;Diastrophic dysplasia;Diastrophic dysplasia;Multiple epiphyseal dysplasia 4;Multiple epiphyseal dysplasia 4;Osteochondrodysplasia;not provided;not specified Oedema, not elsewhere classified 0.000475 0.3179 0.091 Right bundle-branch block 0.0004491 7.85 2.237 SLC26A2 rs30832 5:149981314:T:C 5 149981314 T C 5:149360877 0.969689 1213 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter ILD, hospital admissions 3, with pneumonia sepsis 0.000837 -1.9001 0.5688 ILD, hospital admissions 3, with pneumonia sepsis 0.0008291 -0.951 0.285 SLC26A2 rs3776070 5:149981658:A:T 5 149981658 A T 5:149361221 0.99742 0.143641 7560 45212 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Internar derangement of knee 3.61e-05 -0.0763 0.0185 Internar derangement of knee 7.771e-06 -0.145 0.033 SLC26A2 rs747357127 5:149981811:T:A 5 149981811 T A 5:149361374 0.800977 64 stop_lost recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other abnormal findings of blood chemistry 0.000798 23.397 6.9769 HMGXB3 rs142114383 5:150010405:G:A 5 150010405 G A 5:149389968 0.992465 6152 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pterygium 0.00102 1.0994 0.3346 Achalasia of cardia 0.0008365 11.728 3.511 HMGXB3 rs138303033 5:150012282:C:T 5 150012282 C T 5:149391845 0.961736 1384 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Poisoning by narcotics and psychodysleptics [hallucinogens] 0.000144 4.5367 1.1937 HMGXB3 rs186497515 5:150030756:T:A 5 150030756 T A 5:149410319 0.969233 380 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other extrapyramidal and movement disorders+ in other diseases 0.00169 1.9006 0.6051 Endocrine, nutritional and metabolic diseases 0 1.812 0 CSF1R rs34030164 5:150054325:C:G 5 150054325 C G 5:149433888 0.976517 3238 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary diffuse leukoencephalopathy with spheroids Nail disorders 0.000416 1.0015 0.2837 Pterygium 0.0002615 27.794 7.613 CSF1R rs41355444 5:150057367:C:T 5 150057367 C T 5:149436930 0.987406 365 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic gout 0.000957 3.6769 1.1132 CSF1R rs200788902 5:150061550:G:A 5 150061550 G A 5:149441113 0.983406 914 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyarthritis, unspecified 0.000569 2.9864 0.8667 CSF1R rs34951517 5:150070264:C:T 5 150070264 C T 5:149449827 0.944255 1694 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary diffuse leukoencephalopathy with spheroids Other diseases of the digestive system 0.000584 0.4903 0.1426 Social disorders starting during childhood or adolecense 0.0003711 172.961 48.586 CSF1R rs10079250 5:150070569:T:C 5 150070569 T C 5:149450132 0.996218 9531 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary diffuse leukoencephalopathy with spheroids Other/unspecified enthesopathies of lower limb, excluding foot 0.000108 0.6389 0.1651 Amenorrhoea 0.0001799 3.204 0.855 CSF1R rs149168939 5:150077284:C:T 5 150077284 C T 5:149456847 0.981123 0.00124392 2 455 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Burn and corrosion of head and neck 3e-05 9.2293 2.2113 CSF1R rs143025739 5:150080328:G:A 5 150080328 G A 5:149459891 0.969226 350 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Arthrosis 0.000193 0.6332 0.1699 CSF1R rs56048668 5:150080979:A:C 5 150080979 A C 5:149460542 0.94995 854 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary diffuse leukoencephalopathy with spheroids Haemangioma, any site (other cancers excluded from controls) 0.000241 2.1806 0.5939 Other/unspecified enthesopathies, not elsewhere classified 0.003386 26.555 9.062 PDGFRB rs114435947 5:150115797:G:A 5 150115797 G A 5:149495360 0.987726 1693 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of larynx 0.00016 4.533 1.201 Hyperkinetic disorders (excl. ADHD) 0.0002281 294.134 79.806 PDGFRB rs148974733 5:150129831:C:T 5 150129831 C T 5:149509394 0.991961 2602 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Basal ganglia calcification, idiopathic, 4;Infantile myofibromatosis 1;Kosaki overgrowth syndrome;Premature aging syndrome, Penttinen type Other symptoms and signs involving cognitive functions and awareness 0.000295 0.4409 0.1218 Nonorganic sleeping disorders (more controls excluded) 0.0001564 21.841 5.777 PDGFRB rs142992960 5:150129832:G:A 5 150129832 G A 5:149509395 0.936988 480 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neuromuscular dysfuntion of bladder 0.00162 2.4133 0.7658 Contusion of ankle 0.0006991 106.425 31.395 PDGFRB rs41287110 5:150129883:C:T 5 150129883 C T 5:149509446 0.993376 0.0136259 62 4944 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Basal ganglia calcification, idiopathic, 4;Infantile myofibromatosis 1;Kosaki overgrowth syndrome;Premature aging syndrome, Penttinen type Other symptoms and signs involving the digestive system and abdomen 4.72e-05 0.5986 0.1471 Chronic kidney disease 5.231e-05 4.197 1.038 PDGFRB rs2229558 5:150132844:G:A 5 150132844 G A 5:149512407 0.979258 1608 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Basal ganglia calcification, idiopathic, 4;Infantile myofibromatosis 1;Kosaki overgrowth syndrome;Premature aging syndrome, Penttinen type;not provided Poisoning by narcotics and psychodysleptics [hallucinogens] 0.000272 4.0347 1.1084 Other and unspecified corneal deformities and disorders 0.001004 73.324 22.292 PDGFRB rs41287112 5:150132931:C:T 5 150132931 C T 5:149512494 0.948501 1091 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Amenorrhoea 0.00056 1.8807 0.545 Polyuria 1.607e-05 36.764 8.523 PDGFRB rs17110944 5:150135834:T:A 5 150135834 T A 5:149515397 0.997441 5262 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Basal ganglia calcification, idiopathic, 4;Infantile myofibromatosis 1;Kosaki overgrowth syndrome;Premature aging syndrome, Penttinen type;not specified Urethral stricture 0.00244 0.7541 0.2488 0.0003446 0.647 0.181 SLC6A7 rs187423639 5:150190335:A:G 5 150190335 A G 5:149569898 0.850833 194 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of head and neck 0.000912 11.7647 3.5474 TCOF1 rs56180593 5:150361169:C:T 5 150361169 C T 5:149740732 0.986021 750 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glaucoma suspect 0.000262 1.0917 0.2991 TCOF1 rs112332762 5:150364243:G:A 5 150364243 G A 5:149743806 0.985725 1729 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Treacher Collins Syndrome, Dominant;not specified Disorders related to short gestation and low birth weight, not elsewhere classified 0.000864 3.6227 1.0875 Other extrapyramidal and movement disorders+ in other diseases 0.0001307 24.179 6.321 TCOF1 rs528897827 5:150372182:TAGTGAGGAGGGATCTGAA:T 5 150372182 TAGTGAGGAGGGATCTGAA T 5:149751745 0.964173 527 inframe_indel dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.000433 2.7752 0.7886 TCOF1 rs182776703 5:150372193:G:A 5 150372193 G A 5:149751756 0.99418 8751 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified disorders of muscle 0.000339 0.8866 0.2474 0.0002766 0.863 0.237 TCOF1 rs144327167 5:150374331:G:A 5 150374331 G A 5:149753894 0.95143 2352 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Treacher Collins Syndrome, Dominant;Treacher Collins syndrome 1;not provided;not specified Acquired haemolytic anaemia 0.000187 2.8657 0.767 Congenital musculoskeletal deformities of head, face, spine and chest 0.001055 69.522 21.225 TCOF1 rs75583421 5:150375799:G:A 5 150375799 G A 5:149755362 0.939857 0.0134272 74 4859 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Treacher Collins Syndrome, Dominant;Treacher Collins syndrome 1;not specified Traumatic ischaemia of muscle 5.13e-05 2.4722 0.6105 Benign neoplasm: Spinal cord 7.984e-05 33.412 8.47 TCOF1 rs2071240 5:150376181:G:C 5 150376181 G C 5:149755744 0.998783 24052 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Treacher Collins Syndrome, Dominant;not specified Ventral hernia 0.000616 0.1835 0.0536 Benign neoplasm of major salivary glands 0.0008823 0.85 0.255 TCOF1 rs7713638 5:150379533:T:C 5 150379533 T C 5:149759096 0.999759 43362 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Total colectomy operation 0.000782 0.3493 0.104 Varicose veins 0.0005735 0.13 0.038 TCOF1 rs114689020 5:150379638:C:T 5 150379638 C T 5:149759201 0.931749 1001 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Treacher Collins Syndrome, Dominant;Treacher Collins syndrome 1;not specified Viral pneumonia 0.000533 2.6323 0.76 Chronic lower respiratory diseases 6.971e-05 3.183 0.8 TCOF1 rs151344575 5:150383121:G:T 5 150383121 G T 5:149762684 0.952141 2570 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Treacher Collins syndrome 1 Medial epicondylitis 0.000172 1.7804 0.4739 Patellar tendinitis 0.0008978 82.718 24.909 TCOF1 rs1136103 5:150392717:C:G 5 150392717 C G 5:149772280 0.980598 67912 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes, wide definition 0.000446 -0.0602 0.0172 Injury of nerves at lower leg level 0.0002762 0.867 0.238 TCOF1 rs139081024 5:150393391:T:A 5 150393391 T A 5:149772954 0.985457 0.00100711 2 368 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on diagnostic imaging of other body structures 7.91e-05 3.7041 0.9384 TCOF1 rs55980697 5:150396504:A:G 5 150396504 A G 5:149776067 0.975996 5826 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Treacher Collins Syndrome, Dominant;Treacher Collins syndrome 1;not specified Syncope and collapse 0.000119 0.2806 0.0729 0.0006806 15.147 4.459 TCOF1 rs15251 5:150396669:C:T 5 150396669 C T 5:149776232 0.997723 69860 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ohter specific/unspecified arthritis 0.000558 -0.1019 0.0295 Disorders of ocular muscles, binocular movement, accommodation and refraction 0.0002074 -0.099 0.027 TCOF1 rs45491898 5:150396792:G:C 5 150396792 G C 5:149776355 0.990776 0.0151366 102 5459 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Treacher Collins Syndrome, Dominant;Treacher Collins syndrome 1;not specified Other lack of coordination 1.13e-05 2.5553 0.582 Acute sinusitis 0.0001099 1.629 0.421 TCOF1 5:150396821:GAGA:G 5 150396821 GAGA G 5:149776384 0.979213 3854 inframe_indel dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, strict definition, subgroup 1 0.000685 0.6221 0.1832 0.0003542 1.468 0.411 SYNPO rs146345840 5:150649089:C:T 5 150649089 C T 5:150028651 0.963887 0.00806232 32 2930 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Separation of retinal layers (serosa) 2.21e-05 1.9841 0.4677 Alcohol abuse counselling and surveillance 0.002021 43.863 14.209 TNIP1 rs2233295 5:151049891:G:A 5 151049891 G A 5:150429452 0.982462 1506 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other headache syndromes 0.00116 0.4789 0.1474 2.836e-05 21.752 5.196 GM2A rs1048719 5:151253271:G:A 5 151253271 G A 5:150632832 0.990864 14231 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tay-Sachs disease, variant AB;not provided;not specified Abnormal results of function studies 0.000304 0.4966 0.1375 Diseases of oesophagus, stomach and duodenum 0.0003655 0.325 0.091 GM2A rs153477 5:151259848:A:G 5 151259848 A G 5:150639409 0.996382 86551 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 0.000249 -0.1453 0.0397 Coeliac disease 0.001379 -0.09 0.028 GM2A rs153478 5:151259878:A:G 5 151259878 A G 5:150639439 0.997775 82239 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.000578 -0.2154 0.0626 0.001676 0.068 0.022 GM2A rs61740602 5:151267327:T:C 5 151267327 T C 5:150646888 0.99102 29994 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tay-Sachs disease, variant AB;not provided Carcinoma in situ of skin of upper limb, including shoulder (other cancers excluded from controls) 0.000303 0.8733 0.2417 Disorders of calcium metabolism 0.00138 0.913 0.286 SLC36A2 rs142783014 5:151325385:G:A 5 151325385 G A 5:150704946 0.904172 490 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tubulo-interstitial nephritis, not spesified as acute or chronic 0.000431 3.0176 0.8571 SLC36A2 rs77010315 5:151343594:C:A 5 151343594 C A 5:150723155 0.994636 1777 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Hyperglycinuria;Iminoglycinuria, digenic Haemangioma and lymphangioma, any site (other cancers excluded from controls) 0.00103 1.1992 0.3654 Anxiety disorders (more controls excluded) 1.224e-05 -2.948 0.674 FAT2 rs146458760 5:151510091:C:T 5 151510091 C T 5:150889652 0.928328 4485 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to negative life events in childhood 0.000377 1.837 0.5167 Burn and corrosion of trunk 0.0002835 18.57 5.116 FAT2 rs139138684 5:151517729:C:T 5 151517729 C T 5:150897290 0.976318 680 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Childhood allergy (age < 16) 0.00103 1.4268 0.4345 FAT2 rs142353390 5:151522040:C:T 5 151522040 C T 5:150901601 0.968686 7649 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chrondropathies 0.00186 -0.344 0.1106 Benign neoplasm: Peripheral nerves and autonomic nervous system 0.0006145 13.627 3.978 FAT2 rs142809371 5:151540596:C:T 5 151540596 C T 5:150920157 0.935594 200 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Blepharochalasis 0.00322 1.8698 0.6347 FAT2 rs3734053 5:151542408:C:T 5 151542408 C T 5:150921969 0.933072 1452 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hepatomegaly and splenomegaly, not elsewhere classified 0.000758 4.9754 1.4773 Benign neoplasm: Short bones of lower limb (other cancers excluded from controls) 0.000364 194.305 54.505 FAT2 rs142001888 5:151545401:G:A 5 151545401 G A 5:150924962 0.972845 390 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Accidents 0.000508 2.4267 0.698 0.004769 -2.582 0.915 FAT2 rs145834206 5:151568103:C:G 5 151568103 C G 5:150947664 0.929375 0.0225756 210 8084 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of procedures, not elsewhere classified 4.56e-05 0.1947 0.0478 Diabetic polyneuropathy 0.000202 9.273 2.495 FAT2 rs3734061 5:151568190:G:A 5 151568190 G A 5:150947751 0.946354 1879 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of contact with venomous animals 0.00034 2.2081 0.6163 Benign neoplasm: Short bones of lower limb (other cancers excluded from controls) 0.000672 117.051 34.419 SPARC rs41290587 5:151666362:C:T 5 151666362 C T 5:151045923 0.884568 451 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atrial fibrillation and flutter with reimbursement 0.000518 -1.0881 0.3134 GLRA1 rs116474260 5:151822915:C:T 5 151822915 C T 5:151202476 0.990165 0.00584396 22 2125 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperekplexia;Hyperekplexia hereditary;not specified Alzheimer's disease, wide definition 4.12e-05 -0.6911 0.1685 Additional codes for the location of defect, injury or illness 2.382e-05 58.897 13.938 GRIA1 rs3841128 5:153492228:T:TC 5 153492228 T TC 5:152871788 0.989133 0.0402681 622 14172 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified urticaria 1.9e-05 0.3177 0.0743 Other and unspecified urticaria 4.27e-05 1.238 0.303 HAND1 rs201302313 5:154477762:C:A 5 154477762 C A 5:153857322 0.981428 1852 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypoplastic left heart syndrome 1;not specified Von Willebrand disease 0.000803 3.9063 1.1655 Abscess of external ear 0.0006872 66.279 19.525 GEMIN5 rs115551140 5:154898591:G:A 5 154898591 G A 5:154278151 0.993277 0.00639923 22 2329 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninfective disordersof lymphatic vessels and lymph nodes 9.41e-05 2.4225 0.6203 Hidradenitis suppurativa 8.474e-06 92.928 20.869 GEMIN5 rs61749644 5:154905368:T:C 5 154905368 T C 5:154284928 0.990902 688 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified mental disorder 0.000183 1.0656 0.2848 KIF4B rs115391126 5:155015252:A:T 5 155015252 A T 5:154394812 0.973766 1167 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectosigmoid junction (other cancers excluded from controls) 0.000329 2.7617 0.769 Benign neoplasm: Connective and other soft tissue of lower limb, including hip 0.0003943 187.048 52.781 SGCD rs45559835 5:156508698:G:A 5 156508698 G A 5:155935708 0.998481 15418 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Delta-sarcoglycanopathy;Dilated Cardiomyopathy, Dominant;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2F;not specified Cough 0.000287 0.168 0.0463 Lichen simplex chronicus 0.0001832 3.543 0.947 HAVCR1 rs373345404 5:157052546:GTTGGAACAGTCGTCA:G 5 157052546 GTTGGAACAGTCGTCA G 5:156479557 0.989555 0.655898 158076 82893 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 6.17e-09 0.0597 0.0103 Statin medication 3.773e-07 0.035 0.007 HAVCR1 rs56084311 5:157055285:C:G 5 157055285 C G 5:156482296 0.992688 7251 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Helminthiases 0.000669 1.289 0.3789 Lesion of radial nerve 0.0002398 7.918 2.156 HAVCR2 rs72805186 5:157087178:G:A 5 157087178 G A 5:156514189 0.99085 1206 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to alcohol, excluding acute intoxication 0.00111 -0.5595 0.1716 Disorders of iron metabolism 0.0004107 185.149 52.404 HAVCR2 rs147827860 5:157106719:G:A 5 157106719 G A 5:156533730 0.986371 0.0241352 228 8639 missense_variant recessive risk factor risk factor no assertion criteria provided no_Criteria Symptoms and signs concerning food and fluid intake 4.12e-05 0.6208 0.1514 Systemic connective tissue disorders 1.07e-05 1.886 0.428 HAVCR2 rs35960726 5:157106730:T:C 5 157106730 T C 5:156533741 0.991969 0.00388962 26 1403 missense_variant recessive risk factor risk factor no assertion criteria provided no_Criteria Other and unspecified coagulation defects 1.71e-05 2.8338 0.6591 Postzoster neuralgia 0.0009245 85.999 25.961 HAVCR2 rs184868814 5:157106776:T:C 5 157106776 T C 5:156533787 0.988249 2005 missense_variant recessive risk factor risk factor no assertion criteria provided no_Criteria Strabismus 0.000206 0.6217 0.1675 Hypothyroidism (congenital or acquired) 0 4.178 0 ITK rs56005928 5:157248975:G:A 5 157248975 G A 5:156675985 0.99388 5647 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lymphoproliferative syndrome 1;not provided Complications of other internal prosthetic devices, implants and grafts 0.000528 1.2963 0.374 Conduction disorders 0.0006546 3.204 0.94 NIPAL4 rs199422217 5:157468728:C:A 5 157468728 C A 5:156895736 0.872327 128 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory disorders of male genital organs, not elsewhere classified 0.000131 19.5324 5.1081 NIPAL4 rs6860507 5:157471682:A:G 5 157471682 A G 5:156898690 0.999755 91501 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other noninfective disordersof lymphatic vessels and lymph nodes 0.000343 -0.2934 0.0819 Optic neuritis 0.0004636 -0.196 0.056 NIPAL4 rs61743233 5:157472917:C:T 5 157472917 C T 5:156899925 0.992762 11285 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital ichthyosiform erythroderma;not specified Other disorders of male genital organs 0.000466 0.767 0.2192 Bacterial, viral and other infectious agents 0.0008286 1.907 0.571 ADAM19 rs34882961 5:157491630:G:A 5 157491630 G A 5:156918638 0.975196 2922 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Labour and delivery complicated by intrapartum haemorrhage, not elsewhere classified 0.00139 2.5092 0.7849 Perichondritis of external ear 0.002304 40.621 13.327 IL12B rs3213119 5:159316780:C:A 5 159316780 C A 5:158743788 0.996431 0.0323881 362 11537 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial Atypical Mycobacteriosis, Autosomal Recessive;Immunodeficiency 29 Varicose veins 8.44e-05 0.1594 0.0405 Other noninflammatory disorders of cervix uteri 5.892e-06 4.962 1.095 IL12B rs3213096 5:159323321:C:T 5 159323321 C T 5:158750329 0.993829 3002 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 29 Hypertensive heart and/or renal disease 0.000317 0.5092 0.1414 0.0004112 -1.23 0.348 SLU7 rs17856338 5:160413973:T:C 5 160413973 T C 5:159840980 0.996144 11342 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of lateral popliteal nerve 0.000134 0.7451 0.1951 Malignant neoplasm of stomach 0.000564 3.648 1.058 GABRA6 rs3811993 5:161689666:C:T 5 161689666 C T 5:161116672 0.994509 4187 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Childhood absence epilepsy Other/unspecified enthesopathies, not elsewhere classified 0.000227 0.7594 0.206 Persons encountering health services in other circumstances 0.003112 1.983 0.671 GABRA6 rs76773579 5:161690237:A:G 5 161690237 A G 5:161117243 0.998764 2555 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Childhood absence epilepsy Procedures for purposes other than remedying health state 0.00133 1.8448 0.575 Lichen sclerosus et atrophicus 0.0006959 12.068 3.559 GABRA6 rs150866100 5:161690332:G:A 5 161690332 G A 5:161117338 0.999314 0.00894422 28 3258 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polycythaemia vera 6.6e-05 2.0613 0.5166 Other diseases of arteries and capillaries 0.0007049 12.146 3.585 GABRG2 rs211035 5:162102565:A:G 5 162102565 A G 5:161529571 0.99845 52014 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of the respiratory system 0.000848 -0.5312 0.1592 Secondary and unspecified malignant neoplasm of lymph nodes (other cancers excluded from controls) 0.0003645 -0.137 0.038 GABRG2 rs41311629 5:162102625:G:T 5 162102625 G T 5:161529631 0.99731 0.131959 6422 42058 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cough 5.35e-05 0.1128 0.0279 Schizoaffective disorder 0.0008046 0.422 0.126 RARS rs244903 5:168486505:G:A 5 168486505 G A 5:167913510 0.999383 89757 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bacterial pneumonia, not elsewhere classified 0.0019 -0.0606 0.0195 Bacterial pneumonia, not elsewhere classified 0.0001689 -0.055 0.014 RARS rs62385662 5:168502030:G:A 5 168502030 G A 5:167929035 0.918455 428 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of synovium and tendon in diseases classified elsewhere 0.000772 6.6758 1.9853 RARS rs2305734 5:168506153:T:A 5 168506153 T A 5:167933158 0.99945 59738 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other respiratory disorders and diseases 0.000409 -0.1452 0.0411 Other specified/unspecified soft tissue disorders 0.002225 0.301 0.098 SLIT3 rs34260167 5:168753042:C:T 5 168753042 C T 5:168180047 0.948134 2817 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of other internal prosthetic devices, implants and grafts 4e-04 2.1469 0.6065 Obesity, other/unspecified 0.001031 4.586 1.397 SPDL1 rs140005442 5:169596559:A:G 5 169596559 A G 5:169023563 0.985544 290 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Charcot foot 0.000217 16.3045 4.409 DOCK2 rs78243868 5:169684341:C:T 5 169684341 C T 5:169111345 0.988998 995 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of arteries, arterioles and capillaries 0.000413 -0.5614 0.159 DOCK2 rs148694888 5:169985868:T:C 5 169985868 T C 5:169412872 0.993238 337 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polymyalgia rheumatica 0.000897 3.0386 0.915 DOCK2 rs200684209 5:170079109:C:T 5 170079109 C T 5:169506113 0.988837 0.000857404 2 313 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Normotensive glaucoma 5.66e-05 5.187 1.2882 DOCK2 rs144315682 5:170082811:G:T 5 170082811 G T 5:169509815 0.985018 0.00232452 4 850 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 40 Bronchitis 3.39e-05 0.4573 0.1103 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0 3.219 0 FOXI1 rs115399307 5:170108151:C:T 5 170108151 C T 5:169535155 0.960208 1123 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Non-rheumatic valve diseases 0.0023 0.512 0.168 Other heart diseases 1.967e-05 2.414 0.566 KCNMB1 rs11739136 5:170383792:C:T 5 170383792 C T 5:169810796 0.999283 23683 missense_variant dominant protective protective no assertion criteria provided no_Criteria Hypertension, diastolic, resistance to Aortic aneurysm 0.000268 -0.2435 0.0668 Acute gastritis 0.000177 0.96 0.256 MSX2 rs4242182 5:174729165:T:C 5 174729165 T C 5:174156168 0.997248 29824 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other symptoms and signs involving general sensations and perceptions 0.000564 -0.4603 0.1335 Injury of nerves at lower leg level 0.0004903 -0.476 0.137 GPRIN1 rs749944557 5:176599134:TCCTCCTTCCTC:T 5 176599134 TCCTCCTTCCTC T 5:176026135 0.998396 64377 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain, not elsewhere classified 0.000746 -0.1097 0.0325 Benign neoplasm: Tongue (other cancers excluded from controls) 0.0004366 -0.498 0.142 HK3 rs35610191 5:176889454:C:T 5 176889454 C T 5:176316455 0.955893 12576 missense_variant unknown not provided not_provided no assertion provided none Fracture of shoulder and upper arm 0.00222 0.1802 0.0589 Heartburn 0.0008275 2.03 0.607 UIMC1 rs150697112 5:176968617:A:G 5 176968617 A G 5:176395618 0.948147 151 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bicipital tendinitis 0.000356 8.3168 2.3291 FGFR4 rs351855 5:177093242:G:A 5 177093242 G A 5:176520243 0.998061 81859 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Malnutrition 0.000362 -0.4747 0.1331 0.001099 -0.047 0.015 NSD1 rs3733875 5:177210239:G:T 5 177210239 G T 5:176637240 0.999516 0.182415 12496 54521 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholelithiasis 8.63e-05 -0.0677 0.0173 0.001134 -0.135 0.041 NSD1 rs28932177 5:177210470:G:A 5 177210470 G A 5:176637471 0.999308 0.0329951 440 11682 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beckwith-Wiedemann syndrome;History of neurodevelopmental disorder;Sotos syndrome;Weaver syndrome;not specified Other osteochondropathies 4.24e-05 0.5565 0.1359 Benign neoplasm: Liver 0.0004505 6.482 1.847 NSD1 rs28932178 5:177210575:T:C 5 177210575 T C 5:176637576 0.999927 0.215481 17404 61761 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of colon 3.74e-05 0.1876 0.0455 Fracture of shoulder and upper arm 0.0008431 -0.12 0.036 NSD1 rs28932179 5:177211505:G:C 5 177211505 G C 5:176638506 0.999308 0.0329951 440 11682 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beckwith-Wiedemann syndrome;History of neurodevelopmental disorder;Sotos syndrome;Weaver syndrome;not specified Other osteochondropathies 4.24e-05 0.5565 0.1359 Benign neoplasm: Liver 0.0004505 6.482 1.847 NSD1 rs766901249 5:177211620:G:A 5 177211620 G A 5:176638621 0.899366 584 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dystonia 0.00144 2.6847 0.8425 NSD1 rs199574095 5:177248192:G:A 5 177248192 G A 5:176675193 0.92886 329 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postpartum haemorrhage 0.000108 2.2693 0.586 NSD1 rs35848863 5:177294118:G:A 5 177294118 G A 5:176721119 0.99869 0.0490626 950 17075 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beckwith-Wiedemann syndrome;History of neurodevelopmental disorder;Sotos syndrome;Weaver syndrome;not specified Drug-induced hypoglycaemia without coma 9.47e-05 1.0494 0.2688 Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.0006732 0.413 0.121 NSD1 rs34165241 5:177294150:T:C 5 177294150 T C 5:176721151 0.99869 0.0490653 950 17076 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beckwith-Wiedemann syndrome;History of neurodevelopmental disorder;Sotos syndrome;Weaver syndrome;not specified Drug-induced hypoglycaemia without coma 9.48e-05 1.0494 0.2688 Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.0006732 0.413 0.121 NSD1 rs78247455 5:177295004:G:A 5 177295004 G A 5:176722005 0.998995 5813 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beckwith-Wiedemann syndrome;History of neurodevelopmental disorder;Sotos syndrome;Weaver syndrome;not specified Persistent delusional disorders 0.000561 -0.6323 0.1833 Non-small cell lung cancer 0.002048 3.698 1.199 NSD1 rs77618751 5:177295218:T:C 5 177295218 T C 5:176722219 0.915095 400 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beckwith-Wiedemann syndrome;History of neurodevelopmental disorder;Sotos syndrome;Sotos syndrome 1;Weaver syndrome;not specified Recurrent dislocation of patella 0.000406 3.796 1.0735 Melanocytic naevi of lower limb, including hip (other cancers excluded from controls) 0.0007412 108.421 32.136 LMAN2 rs150674852 5:177332169:C:T 5 177332169 C T 5:176759170 0.9893 1254 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hidradenitis suppurativa 0.00109 2.8172 0.8622 Problems related to medical facilities and other health care 0.0004289 169.892 48.242 SLC34A1 rs1460573878 5:177386231:GGTCCCCAAGCTGCGCCAGGCT:G 5 177386231 GGTCCCCAAGCTGCGCCAGGCT G 5:176813232 0.993426 9869 inframe_indel both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arrhytmias 0.000253 0.1734 0.0474 Superficial injury of abdomen, lower back and pelvis 0.0004781 2.163 0.619 SLC34A1 rs145798898 5:177386245:G:A 5 177386245 G A 5:176813246 0.872789 0.000498111 0 183 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Poisoning by drugs, medicaments and biological substances 3.47e-05 2.8692 0.693 SLC34A1 rs148976897 5:177386432:C:T 5 177386432 C T 5:176813433 0.995634 3168 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypophosphatemic Nephrolithiasis/Osteoporosis;Nephrocalcinosis Labour and delivery complicated by intrapartum haemorrhage, not elsewhere classified 0.000739 2.8313 0.8389 Hypothyroidism, drug reimbursement 2.566e-06 2.828 0.601 SLC34A1 rs199565633 5:177397849:C:T 5 177397849 C T 5:176824850 0.956523 464 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitiligo 0.000788 10.7327 3.1971 SLC34A1 rs34225933 5:177398068:C:T 5 177398068 C T 5:176825069 0.976048 10666 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Factor XII deficiency disease;Hereditary Angioedema;Hypophosphatemic Nephrolithiasis/Osteoporosis Complications of internal orthopaedic prosthetic devices, implants and grafts 0.000359 0.3236 0.0907 Other noninflammatory disorders of uterus, except cervix 0.0004907 1.056 0.303 F12 rs183643295 5:177404082:C:G 5 177404082 C G 5:176831083 0.973492 1186 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Factor XII deficiency disease Toxic effect of contact with venomous animals 0.000842 2.7889 0.8354 Burn and corrosion of hip and lower limb, except ankle and foot 0.0009012 91.141 27.455 F12 rs17876030 5:177404825:C:G 5 177404825 C G 5:176831826 0.933907 3650 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.000513 -1.105 0.3181 Pre-eclampsia or eclampsia 0.0005139 -0.237 0.068 F12 rs35515200 5:177405165:G:C 5 177405165 G C 5:176832166 0.986532 1120 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Factor XII deficiency disease;Hereditary Angioedema Atopic dermatitis, strict definition 0.00161 0.7201 0.2284 Congenital malformations of aortic and mitral valves 0.0007989 95.066 28.351 DBN1 rs146597348 5:177466941:C:T 5 177466941 C T 5:176893942 0.958526 0.013615 94 4908 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other shoulder lesions 6.67e-05 0.9116 0.2286 Other specified/unspecified systemic involvement of connective tissue 0.002861 6.3 2.112 B4GALT7 rs142476892 5:177604405:C:T 5 177604405 C T 5:177031406 0.978491 513 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Counselling related to sexual attitude, behaviour and orientation 0.00133 8.7737 2.7344 PROP1 rs143790367 5:177992965:G:A 5 177992965 G A 5:177419966 0.992393 448 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bursitis of shoulder 0.000919 6.3779 1.9243 PROP1 rs1800197 5:177992966:C:T 5 177992966 C T 5:177419967 0.990245 0.22326 18502 63521 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy (excluding other) 8.65e-05 -0.1696 0.0432 Hernia 0.0007051 0.062 0.018 PROP1 rs369390421 5:177994137:C:T 5 177994137 C T 5:177421138 0.928163 459 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypermobility syndrome 0.000139 4.4911 1.1787 PROP1 rs114584451 5:177994145:ACT:A 5 177994145 ACT A 5:177421146 0.81074 8.98233e-05 0 33 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cystic kidney disease 2.01e-05 33.2604 7.8007 PROP1 rs2233783 5:177994296:C:G 5 177994296 C G 5:177421297 0.883749 128 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Personal history of certain other diseases 0.000495 29.6808 8.5211 NHP2 rs145890370 5:178150922:C:T 5 178150922 C T 5:177577923 0.90625 333 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nerve, nerve root and plexus disorders 0.000235 -0.7759 0.211 PHYKPL rs142181517 5:178211964:T:A 5 178211964 T A 5:177638965 0.98897 0.00387329 4 1419 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Phosphohydroxylysinuria Hyperprolactinaemia 9.2e-05 2.4225 0.6194 Diverticular disease of intestine 2.562e-05 5.023 1.193 GRM6 rs17078874 5:178982926:G:A 5 178982926 G A 5:178409927 0.982429 36179 missense_variant recessive not provided not_provided no assertion provided none Extreme obesity with alveolar hypoventilation 0.000301 0.4803 0.1329 Malignant neoplasm of eye, brain and central nervous system 0.000367 0.515 0.145 GRM6 rs17078877 5:178983212:T:C 5 178983212 T C 5:178410213 0.993301 13006 missense_variant recessive not provided not_provided no assertion provided none not provided Other/unspecified cytomegaloviral diseases 0.00115 1.0965 0.3373 Viral pneumonia (known virus, not influenza) 0.003295 2.15 0.732 GRM6 rs62638623 5:178986162:G:C 5 178986162 G C 5:178413163 0.930243 821 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Hydrocele 0.000693 1.2827 0.3781 Non-rheumatic valve diseases 0.001021 27.214 8.285 GRM6 rs62638210 5:178986522:G:A 5 178986522 G A 5:178413523 0.990108 319 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peroneal tendinitis 0.00221 14.9426 4.8815 GRM6 rs143491269 5:178986683:G:A 5 178986683 G A 5:178413684 0.876487 449 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Kela-code for behavioural disturbances in mental retardation 0.000115 11.0801 2.8729 GRM6 rs5019554 5:178988982:G:A 5 178988982 G A 5:178415983 0.933505 3329 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital stationary night blindness, type 1B;not specified Other abnormalities of plasma proteins 0.000169 3.5225 0.9363 Injury of nerves at lower leg level 0.001598 53.303 16.888 GRM6 rs62638207 5:178991548:T:C 5 178991548 T C 5:178418549 0.961547 1723 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Mental disorders, not otherwise specified 0.000687 1.1958 0.3523 Melanocytic naevi, other sites/unspecified (other cancers excluded from controls) 0.002762 44.408 14.837 GRM6 rs62642053 5:178994926:C:T 5 178994926 C T 5:178421927 0.919352 1172 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrichosis 7e-04 3.9969 1.1791 ADAMTS2 rs1054480 5:179113974:G:A 5 179113974 G A 5:178540975 0.996451 74804 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carpal tunnel syndrome 0.000245 0.0676 0.0184 Mental retardation (more controls excluded) 0.003173 0.282 0.095 ADAMTS2 rs200982805 5:179114054:T:C 5 179114054 T C 5:178541055 0.994394 345 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Systemic atrophies primarly affecting the central nervous system 0.00298 4.4624 1.5029 ADAMTS2 rs140022033 5:179125136:C:T 5 179125136 C T 5:178552137 0.990098 1241 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified Asthma and allergy 0.000163 1.2674 0.3362 Examination and observation for other reasons 0.0006465 3.472 1.018 ADAMTS2 rs35445112 5:179128096:C:T 5 179128096 C T 5:178555097 0.962485 10189 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified Urehtritis and urethral syndrome 0.000536 1.0308 0.2977 Testicular dysfunction 0.0002159 8.028 2.17 ADAMTS2 rs146222244 5:179132248:C:T 5 179132248 C T 5:178559249 0.963163 124 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chalazion 0.00113 4.4094 1.3548 ADAMTS2 rs141650732 5:179132253:A:G 5 179132253 A G 5:178559254 0.994741 1539 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ehlers-Danlos syndrome, type vii, autosomal recessive Autoimmune diseases related-to ILD 0.000297 -0.3511 0.097 Abnormal spermatozoa 0.0002757 7.708 2.119 ADAMTS2 rs35372714 5:179136001:C:T 5 179136001 C T 5:178563002 0.945671 3879 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ehlers-Danlos syndrome, type vii, autosomal recessive;not provided;not specified STROKE 0.000328 0.256 0.0713 Secondary parkinsonism (more controls excluded) 0.0002079 22.73 6.128 ADAMTS2 rs756455382 5:179154844:G:A 5 179154844 G A 5:178581845 0.946429 175 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cervical root disorders 0.00106 20.7406 6.3338 ADAMTS2 rs117222015 5:179207640:C:T 5 179207640 C T 5:178634641 0.871053 0.000604266 0 222 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Shoulder lesions 3.79e-05 1.1997 0.2912 ADAMTS2 rs143764421 5:179207656:C:T 5 179207656 C T 5:178634657 0.989057 842 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cholangitis (primary sclerosing, PSC) 0.000715 2.5131 0.7427 ADAMTS2 rs398829 5:179207671:C:T 5 179207671 C T 5:178634672 0.925323 0.295021 32146 76241 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic iridocyclitis 2.66e-05 -0.3083 0.0734 Postprocedural disorders of digestive system, not elsewhere classified 9.158e-06 0.515 0.116 ADAMTS2 rs11750821 5:179207682:C:T 5 179207682 C T 5:178634683 0.926758 32564 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of skin appendages 0.00157 -0.1017 0.0322 Rotator cuff syndrome 0.0007321 0.19 0.056 ADAMTS2 rs59567206 5:179207703:T:C 5 179207703 T C 5:178634704 0.933196 3604 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ehlers-Danlos syndrome, type vii, autosomal recessive;not specified Disorders of lacrimal system 0.000363 0.3829 0.1074 Convergence insufficiency and excess 0.002611 38.398 12.756 ADAMTS2 rs2271211 5:179344081:C:T 5 179344081 C T 5:178771082 0.891611 906 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Melanocytic naevi (other cancers excluded from controls) 0.00228 0.8918 0.2923 MAML1 rs113636707 5:179765579:G:A 5 179765579 G A 5:179192580 0.998314 748 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of breast, other/unspecified 0.000318 8.8399 2.4556 MAML1 rs61753466 5:179774297:C:T 5 179774297 C T 5:179201298 0.96569 2860 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Urehtritis and urethral syndrome 0.000861 1.9903 0.5973 Supervision of high-risk pregnancy 4.084e-06 3.269 0.71 MAML1 rs61748800 5:179774539:C:G 5 179774539 C G 5:179201540 0.961507 0.00325814 2 1195 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mood disorders (more controls excluded) 7.12e-07 0.5572 0.1124 SQSTM1 rs200396166 5:179821034:C:T 5 179821034 C T 5:179248034 0.952077 0.000928174 2 339 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adhesive capsulitis of shoulder 7.42e-05 2.4017 0.6061 SQSTM1 rs147810437 5:179823906:C:T 5 179823906 C T 5:179250906 0.990938 2577 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Conductive hearing loss, unspecified 0.00012 1.1146 0.2898 Convalescence 0.0001665 22.614 6.006 SQSTM1 rs11548633 5:179825184:A:G 5 179825184 A G 5:179252184 0.948056 182 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Larynx 0.00162 8.234 2.6126 SQSTM1 rs55793208 5:179833099:G:C 5 179833099 G C 5:179260099 0.984248 0.0178531 116 6443 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic lateral sclerosis and/or frontotemporal dementia 1;Paget disease of bone;Paget disease of bone 2, early-onset;Paget disease of bone 2, early-onset;not specified Infections of the skin and subcutaneous tissue 2.72e-05 0.2651 0.0632 Secondary and unspecified malignant neoplasm of lymph nodes 0.0006938 5.445 1.605 C5orf45 rs10277 5:179837731:T:C 5 179837731 T C 5:179264731 0.9928 87121 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Calculus of kidney and ureter 0.000187 0.0918 0.0246 Benign neoplasm of colon, rectum, anus and anal canal 0.0006011 0.045 0.013 FLT4 rs307821 5:180603313:C:A 5 180603313 C A 5:180030313 0.989805 30121 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Trochanteric bursitis 0.00293 -0.214 0.0719 Benign neoplasm: Conjunctiva 0.001708 1.182 0.377 FLT4 rs79620092 5:180603322:C:T 5 180603322 C T 5:180030322 0.969509 2971 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Cleft lip and cleft palate 0.00038 2.9863 0.8403 Effects of foreign body entering through natural orifice 0.0006659 5.232 1.537 FLT4 rs1130379 5:180612606:C:T 5 180612606 C T 5:180039606 0.972525 41676 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Effects of other external causes 0.00032 0.4872 0.1354 Use of disulfiram, acamprosate or naltrexone 0.000106 0.47 0.121 FLT4 rs34255532 5:180618911:G:A 5 180618911 G A 5:180045911 0.962795 453 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Achilles tendinitis 0.000765 2.1071 0.6262 FLT4 rs448012 5:180619344:G:C 5 180619344 G C 5:180046344 0.984224 0.703314 182024 76365 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinal haemorrhage 1.9e-05 -0.5036 0.1178 Retinal haemorrhage 9.536e-05 -0.295 0.076 FLT4 rs55667289 5:180621641:G:A 5 180621641 G A 5:180048641 0.971256 910 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Mental and behavioural disorders due to cannabinoids 0.000183 2.4593 0.6574 Other and unspecified injuries of thorax 0.0004437 254.352 72.411 FLT4 rs307826 5:180624003:T:C 5 180624003 T C 5:180051003 0.992196 28741 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Maternal care for known or suspected disproportion 0.00116 0.3641 0.1121 0.0002375 -0.132 0.036 FLT4 rs34221241 5:180630293:T:C 5 180630293 T C 5:180057293 0.983487 39704 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Effects of other external causes 0.000169 0.5212 0.1386 Undescended testicle 0.0003276 1.928 0.537 WRNIP1 rs77289107 6:2768731:A:G 6 2768731 A G 6:2768965 0.981145 7073 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory disorders of male genital organs, not elsewhere classified 0.000207 1.8972 0.5114 Gluteal tendinitis 0.001298 9.465 2.943 SERPINB6 rs200861589 6:2954598:T:C 6 2954598 T C 6:2954832 0.986059 931 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute and transient psychotic disorders 0.000342 1.3467 0.376 Other bursal cyst 0.0008247 100.973 30.192 SERPINB6 rs2295769 6:2955568:T:C 6 2955568 T C 6:2955802 0.996856 67506 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Soft tissue disorders related to use, overuse and pressure 0.0012 -0.0977 0.0302 Other encephalitis 0.0006732 0.468 0.138 LYRM4 rs2224391 6:5260703:A:C 6 5260703 A C 6:5260936 0.994984 61750 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Papulosquamous disorders 0.000325 0.0924 0.0257 Benign neoplasm: Rectum 0.001907 0.19 0.061 FARS2 rs141568455 6:5369079:C:G 6 5369079 C G 6:5369312 0.984712 553 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Tobacco use 0.000473 5.5474 1.5869 Depression 0 4.257 0 FARS2 rs202060864 6:5404596:C:T 6 5404596 C T 6:5404829 0.972421 479 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Placenta praevia 0.00137 3.3843 1.0572 FARS2 rs116567033 6:5404666:C:T 6 5404666 C T 6:5404899 0.932443 737 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined oxidative phosphorylation deficiency 14;not provided;not specified Haemmorrhoids and perianal venous thrombosis 0.000334 1.1918 0.3323 Injuries to the elbow and forearm 9.934e-05 8.101 2.081 FARS2 rs11243011 6:5431107:A:G 6 5431107 A G 6:5431340 0.998852 49274 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other ulcerative colitis 0.00119 0.2569 0.0792 Other respiratory diseases principally affecting the interstitium 0.001407 -0.247 0.077 F13A1 rs267606789 6:6151874:G:A 6 6151874 G A 6:6152107 0.985284 453 pLoF both Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Factor XIII subunit A deficiency Congenital malformations of eye, ear, face and neck 0.00083 2.7833 0.8327 Benign neoplasm: Kidney 0.0004641 144.76 41.352 F13A1 rs5988 6:6151904:C:G 6 6151904 C G 6:6152137 0.998445 53095 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postpartum haemorrhage 0.000322 0.1383 0.0385 Ectropion of eyelid 0.001133 0.531 0.163 F13A1 rs5987 6:6151907:C:T 6 6151907 C T 6:6152140 0.995539 19258 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Factor XIII subunit A deficiency;not specified DVT of lower extremities 0.00098 0.1772 0.0538 Female genital prolapse 4.898e-06 0.539 0.118 F13A1 rs138754417 6:6167589:C:T 6 6167589 C T 6:6167822 0.98464 0.0010561 0 388 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 7.78e-05 2.9156 0.7379 F13A1 rs5983 6:6167600:A:T 6 6167600 A T 6:6167833 0.920428 0.00164404 8 596 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lupus erythematosus 8.23e-05 6.5269 1.6576 Tic disorders (more controls excluded) 0.0009965 119.288 36.241 F13A1 rs5982 6:6174633:G:A 6 6174633 G A 6:6174866 0.975628 58480 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Corneal scars and opacities 0.000332 -0.4652 0.1296 Pyoderma 0.0006134 0.658 0.192 F13A1 rs5985 6:6318562:C:A 6 6318562 C A 6:6318795 0.999293 0.216265 17584 61869 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other overlap syndromes 2.29e-05 0.5531 0.1306 0.0002501 0.129 0.035 RREB1 rs199565690 6:7229474:A:G 6 7229474 A G 6:7229707 0.998732 1118 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Radial styloid tenosynovitis [de Quervain] 0.000254 2.2555 0.6165 Secondary and unspecified malignant neoplasm of lymph nodes (other cancers excluded from controls) 0 42.283 0 RREB1 rs201520366 6:7231521:C:G 6 7231521 C G 6:7231754 0.908029 824 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tibial collateral bursitis [Pellegrini-Stieda] 0.000209 8.1884 2.2088 RREB1 rs35521383 6:7231563:G:A 6 7231563 G A 6:7231796 0.924876 4881 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other acute viral hepatitis 0.000549 2.2022 0.6373 Dermatopolymyositis 0.0001381 25.48 6.685 RREB1 rs201088383 6:7246979:C:CGGCCCCGGGTGCCGGGGA 6 7246979 C CGGCCCCGGGTGCCGGGGA 6:7247212 0.991229 1962 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parkinson's disease 0.000273 0.971 0.2667 Other hammer toe(s) (acquired) 0.0008028 9.839 2.935 DSP rs17604693 6:7565494:A:T 6 7565494 A T 6:7565727 0.996258 9249 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy with woolly hair and keratoderma;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Primary familial hypertrophic cardiomyopathy;Skin fragility woolly hair syndrome;not specified Coxarthrosis, primary 0.000429 -0.2046 0.0581 Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 1.259e-05 4.378 1.003 DSP rs28763961 6:7569247:A:T 6 7569247 A T 6:7569480 0.993833 7564 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiovascular phenotype;Dilated cardiomyopathy with woolly hair and keratoderma;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not provided;not specified Burn and corrosion of ankle and foot 0.00115 1.5308 0.4709 Mental and behavioural disorders due to tobacco 0.0002151 4.738 1.28 DSP rs148147581 6:7570558:G:A 6 7570558 G A 6:7570791 0.944912 95 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Persons encountering health services for examination and investigation 0.00071 -0.7338 0.2167 DSP rs751361395 6:7579336:C:T 6 7579336 C T 6:7579569 0.987845 431 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontraumatic intracranial haemmorrhage 0.00106 1.6542 0.5051 DSP rs28763965 6:7580562:C:G 6 7580562 C G 6:7580795 0.98041 0.0015896 2 582 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Small intestine (other cancers excluded from controls) 2.67e-06 6.183 1.317 DSP rs2076299 6:7580725:A:G 6 7580725 A G 6:7580958 0.999762 20472 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Cardiovascular phenotype;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not specified Abnormalities of forces of labour 0.00162 0.2593 0.0823 Type 1 diabetes with other specified/multiple/unspecified complications 0.0002413 0.611 0.166 DSP rs141227126 6:7580778:G:T 6 7580778 G T 6:7581011 0.990222 4707 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiovascular phenotype;Dilated cardiomyopathy with woolly hair and keratoderma;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not provided;not specified Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.000177 1.5549 0.4147 Congenital iodine-deficiency syndrome/hypothyroidism 0.0002961 18.607 5.142 DSP rs28763967 6:7580799:C:T 6 7580799 C T 6:7581032 0.992298 2110 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiovascular phenotype;Dilated cardiomyopathy with woolly hair and keratoderma;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;Sudden unexplained death;not provided;not specified Bronchitis, not specified as acute or chronic 0.0012 0.8767 0.2707 Other/unspecified cytomegaloviral diseases 0.003057 33.163 11.196 DSP rs6929069 6:7581403:G:A 6 7581403 G A 6:7581636 0.999905 51769 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other respiratory disorders and diseases 0.00131 0.1414 0.044 0.0002388 0.967 0.263 DSP rs78652302 6:7582760:A:T 6 7582760 A T 6:7582993 0.995187 8225 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy with woolly hair and keratoderma;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not provided;not specified Injuries to the thorax 0.000858 -0.2212 0.0664 Disorders of puberty 0.001252 9.529 2.953 DSP rs41302885 6:7583470:G:A 6 7583470 G A 6:7583703 0.997858 956 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 8;Arrhythmogenic right ventricular cardiomyopathy, type 8;Cardiovascular phenotype;Dilated cardiomyopathy with woolly hair and keratoderma;Ectodermal dysplasia skin fragility syndrome;Epidermolysis bullosa, lethal acantholytic;Skin fragility woolly hair syndrome;not provided;not specified Problems related to lifestyle 0.000168 1.9324 0.5135 Other symptoms and signs involving general sensations and perceptions 0.003457 27.794 9.506 DSP rs766950975 6:7583607:G:T 6 7583607 G T 6:7583840 0.922911 161 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Senile cataract 0.000605 -1.1133 0.3246 DSP rs147000526 6:7584143:C:G 6 7584143 C G 6:7584376 0.980738 166 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Meniscus derangement 0.000461 1.207 0.3446 DSP rs138329459 6:7585717:A:C 6 7585717 A C 6:7585950 0.868315 67 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fracture of lower leg, including ankle 0.00192 2.2197 0.7155 DSP rs397516969 6:7585755:GGGATCTCGCTCC:G 6 7585755 GGGATCTCGCTCC G 6:7585988 0.873723 33 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Contusion of other and unspecified parts of foot 0.00079 23.5862 7.0274 TXNDC5 rs111331197 6:7883235:C:T 6 7883235 C T 6:7883468 0.996756 0.0054275 4 1990 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizoaffective disorder 5.14e-05 1.375 0.3396 Psychiatric diseases 0 2.414 0 GCNT2 rs56106312 6:10586494:G:A 6 10586494 G A 6:10586727 0.995106 2155 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-small cell lung cancer 0.000252 1.1329 0.3095 0.001371 -1.699 0.531 MAK rs199594233 6:10764580:G:A 6 10764580 G A 6:10764813 0.99209 419 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hernia of abodminal wall, postoperative 0.00142 1.8137 0.5686 MAK rs567083 6:10775367:G:A 6 10775367 G A 6:10775600 0.979813 14254 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Recessive Chronic ulcer of skin, not elsewhere classified 0.00119 0.4893 0.1509 Other diseases of intestine 8.78e-05 2.062 0.526 GCM2 rs114070356 6:10874573:T:C 6 10874573 T C 6:10874806 0.956421 330 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hodgkin lymphoma 0.000645 7.0729 2.0731 GCM2 rs61734277 6:10874672:A:C 6 10874672 A C 6:10874905 0.990515 0.0100357 28 3659 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of uterus, except cervix 8.59e-05 0.4674 0.119 Proliferative diabetic retinopathy 0.0008457 2.723 0.816 HIVEP1 rs2228220 6:12123016:A:G 6 12123016 A G 6:12123249 0.999023 20743 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Sexual dysfunction 0.00076 0.9477 0.2815 3.69e-05 0.664 0.161 HIVEP1 rs2228212 6:12124354:C:G 6 12124354 C G 6:12124587 0.996303 84798 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Scleritis and episcleritis 0.000583 0.2118 0.0616 Other secondary coxarthrosis 0.001103 -0.269 0.082 HIVEP1 rs1126472 6:12125539:A:G 6 12125539 A G 6:12125772 0.998149 21026 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Sexual dysfunction 0.000923 0.9237 0.2788 8.686e-05 0.614 0.156 EDN1 rs147381256 6:12293945:G:A 6 12293945 G A 6:12294178 0.969372 1632 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified soft tissue disorders 0.000682 1.5766 0.4642 Other spirochaetal diseases 4.24e-05 34.997 8.548 EDN1 rs5370 6:12296022:G:T 6 12296022 G T 6:12296255 0.999112 57203 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (Late onset) (more controls excluded) 0.000123 0.1767 0.046 Neuralgia and neuritis, unspecified 0.003932 0.346 0.12 JARID2 rs150448457 6:15496699:C:T 6 15496699 C T 6:15496930 0.937192 0.00405294 16 1473 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Choroid 2.3e-05 2.9786 0.7035 Small cell lung cancer 0.001066 76.992 23.526 JARID2 rs147485304 6:15501183:C:T 6 15501183 C T 6:15501414 0.997651 4759 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myasthenia gravis 0.00015 2.1064 0.5556 Pulmonary heart disease, diseases of pulmonary circulation 0.00012 3.66 0.952 JARID2 rs142763537 6:15501191:G:A 6 15501191 G A 6:15501422 0.950011 845 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic diseases of tonsils and adenoids 0.000487 0.4312 0.1236 JARID2 rs146690879 6:15520178:G:C 6 15520178 G C 6:15520409 0.997666 1325 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the ankle and foot 0.000196 0.4752 0.1276 Other disorders of choroid 0.0001937 348.203 93.425 DTNBP1 rs17470454 6:15523217:G:A 6 15523217 G A 6:15523448 0.98838 39287 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory diseases of female pelvic organs 0.000316 -0.0852 0.0237 Other infective otitis externa 3.76e-05 0.731 0.177 DTNBP1 rs16876569 6:15524430:C:T 6 15524430 C T 6:15524661 0.968045 0.00246334 6 899 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Abnormal findings on examination of blood, without diagnosis 7.96e-06 0.9975 0.2233 Alzheimer disease 0.0003212 7.007 1.948 DTNBP1 rs16876571 6:15524448:G:A 6 15524448 G A 6:15524679 0.979325 3822 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.00137 0.5801 0.1813 Alzheimer's disease (Early onset) (more controls excluded) 0.0001061 26.145 6.745 GMPR rs1042391 6:16290530:T:A 6 16290530 T A 6:16290761 0.999741 91966 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Death due to cardiac causes 0.000398 0.0717 0.0203 Malignant neoplasm of larynx 0.0003009 -0.349 0.097 GMPR rs147049568 6:16290617:T:TAC 6 16290617 T TAC 6:16290848 0.982776 1923 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anoxic brain damage 0.000848 3.8332 1.1488 Schizophrenia or delusion 0.001336 8.423 2.626 ATXN1 rs16885 6:16306520:G:A 6 16306520 G A 6:16306751 0.976158 55158 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Obesity due to excess calories 0.000414 0.1041 0.0295 Disorder of external ear, unspecified 0.002787 0.539 0.18 ATXN1 rs41267702 6:16306627:G:A 6 16306627 G A 6:16306858 0.990497 560 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinocerebellar ataxia 1;not specified Postprocedural disorders of digestive system, not elsewhere classified 0.00105 4.5499 1.3887 0.002424 -2.899 0.956 ATXN1 rs139918586 6:16326633:C:T 6 16326633 C T 6:16326864 0.884135 46 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Allergic urticaria 0.00074 10.7034 3.1721 NUP153 rs61748574 6:17637748:A:C 6 17637748 A C 6:17637979 0.987681 1675 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.000265 0.3561 0.0976 0.000725 -2.336 0.691 NUP153 rs61746226 6:17706293:C:T 6 17706293 C T 6:17706524 0.973171 0.00876185 32 3187 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of lumbar spine and pelvis 2.04e-05 0.7355 0.1726 Otalgia 0.0003591 16.213 4.543 KIF13A rs41267712 6:17764665:G:C 6 17764665 G C 6:17764896 0.906511 1157 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tinnitus 0.000581 0.9435 0.2742 Guttate psoriasis 0.0007236 85.602 25.322 KIF13A rs140337156 6:17850345:G:A 6 17850345 G A 6:17850576 0.965458 187 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other vitreous opacities 0.000167 10.641 2.8271 NHLRC1 rs10949483 6:18122275:G:A 6 18122275 G A 6:18122506 0.998776 89685 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Foreign body in ear 0.000145 0.4243 0.1116 Foreign body in ear 0.0003679 0.364 0.102 TPMT rs1142345 6:18130687:T:C 6 18130687 T C 6:18130918 0.999851 10672 missense_variant recessive Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thiopurine methyltransferase deficiency;Thiopurine methyltransferase deficiency;not provided Injuries to the wrist and hand 0.000501 -0.1232 0.0354 Hyperfunction of pituitary gland 0.0002976 4.365 1.207 TPMT rs1800460 6:18138997:C:T 6 18138997 C T 6:18139228 0.999756 9730 missense_variant recessive Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thiopurine methyltransferase deficiency;Thiopurine methyltransferase deficiency;not provided Injuries to the wrist and hand 0.00128 -0.1201 0.0373 Hyperfunction of pituitary gland 3.671e-05 7.579 1.836 TPMT rs759836180 6:18149032:C:CT 6 18149032 C CT 6:18149263 0.922748 0.000743084 0 273 pLoF recessive drug response drug response no assertion criteria provided no_Criteria COPD (mode) 3.27e-05 2.1748 0.5236 E2F3 rs4134982 6:20490197:G:A 6 20490197 G A 6:20490428 0.969312 2682 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified/other endometriosis 0.00132 -0.8904 0.2773 Scar conditions and fibrosis of skin 0.0001298 26.867 7.021 CDKAL1 rs111739077 6:20546466:G:A 6 20546466 G A 6:20546697 0.987603 2426 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified dementia 0.000289 0.9643 0.266 0.001455 -2.325 0.73 SOX4 rs140231408 6:21594616:C:G 6 21594616 C G 6:21594847 0.976446 6548 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of cerebrovascular disease 0.00154 0.3004 0.0949 Bulimia nervosa (incl. atypical) 0.0002256 9.034 2.449 SOX4 rs568195185 6:21595688:ACTC:A 6 21595688 ACTC A 6:21595919 0.81972 881 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rosacea 0.00107 1.8351 0.5609 DCDC2 rs9460973 6:24174793:T:A 6 24174793 T A 6:24175021 0.992899 1640 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary ataxia 0.000299 4.83 1.3358 Benign neoplasm: Short bones of upper limb 0.001105 79.122 24.253 DCDC2 rs2274305 6:24290975:T:C 6 24290975 T C 6:24291203 0.998491 70903 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of head 0.000154 -0.1325 0.035 Chondrocostal junction syndrome [Tietze] 0.0008912 0.196 0.059 DCDC2 rs33914824 6:24301818:G:C 6 24301818 G C 6:24302046 0.997652 7217 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Migraine without aura 0.000597 0.3663 0.1067 Congenital malformations of great arteries 0.001575 7.341 2.323 GPLD1 rs573778305 6:24429112:CT:C 6 24429112 CT C 6:24429340 0.994937 0.0207437 172 7449 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psoriasis 3.17e-05 -0.3777 0.0908 Other disorders of Eustachian tube 0.001676 8.498 2.704 ALDH5A1 rs200793796 6:24495006:T:G 6 24495006 T G 6:24495234 0.997154 13484 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arthropod-borne viral fevers and viral haemorrhagic fevers 0.00136 0.349 0.1089 Other abnormal findings of blood chemistry 0.0002753 4.753 1.307 ALDH5A1 rs4646832 6:24495102:G:C 6 24495102 G C 6:24495330 0.998519 7802 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Migraine, single triptan purchase ok & required. ICD-code if available is included 0.000105 0.2158 0.0556 Benign neoplasm: Vulva 0.002588 6.789 2.253 ALDH5A1 rs1001493071 6:24495172:T:C 6 24495172 T C 6:24495400 0.989182 389 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other specified/unsepecified deforming dorsopathies 0.000728 6.8175 2.0177 ALDH5A1 rs2760118 6:24503362:C:T 6 24503362 C T 6:24503590 0.999985 0.3361 41388 82091 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter KELA_REIMBURSEMENT_202 5.46e-06 -0.0825 0.0181 Other specified/unspecified systemic involvement of connective tissue 0.0001764 -0.246 0.065 ALDH5A1 rs3765310 6:24503369:C:T 6 24503369 C T 6:24503597 0.998085 0.0218733 222 7814 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Migraine, single triptan purchase ok & required. ICD-code if available is included 6.88e-05 0.2214 0.0556 Benign neoplasm: Vulva 0.002556 6.826 2.263 ALDH5A1 rs62621664 6:24504968:G:T 6 24504968 G T 6:24505196 0.939294 3828 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corns and callosities 0.000166 1.0231 0.2716 Non-follicular lymphoma 0.001981 7.39 2.389 ALDH5A1 rs115784602 6:24520491:G:A 6 24520491 G A 6:24520719 0.999875 1210 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Infections of the skin and subcutaneous tissue 0.000266 0.5288 0.145 Disorder of lipoprotein metabolism, unspecified 0.0004837 12.723 3.646 KIAA0319 rs138160539 6:24568813:C:T 6 24568813 C T 6:24569041 0.9414 136 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast and lactation associated with childbirth 0.000653 26.1889 7.683 KIAA0319 rs117692893 6:24595884:A:T 6 24595884 A T 6:24596112 0.967779 416 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations of peripheral vascular system 0.000459 12.8911 3.6793 TDP2 rs61757564 6:24658720:T:C 6 24658720 T C 6:24658948 0.989553 425 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Brachial plexus disorders 0.000384 3.2233 0.9078 TDP2 rs35744230 6:24666602:T:C 6 24666602 T C 6:24666830 0.995107 846 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, strict definition 0.00026 1.3923 0.3813 TDP2 rs146127613 6:24666781:G:C 6 24666781 G C 6:24667009 0.9929 2954 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizoaffective disorder 0.00108 0.8984 0.2748 Ulcer of vagina/vulva 0.002538 38.081 12.615 TDP2 rs61760186 6:24666846:C:A 6 24666846 C A 6:24667074 0.810004 471 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other infectious diseases 0.00101 2.6425 0.804 RP3-369A17.6 rs9358799 6:24806366:C:T 6 24806366 C T 6:24806594 0.998379 91822 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of binocular vision 0.000166 -0.4392 0.1166 Substance abuse 0.0006426 -0.044 0.013 FAM65B rs61741706 6:24828221:C:T 6 24828221 C T 6:24828449 0.98837 278 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital deformities of hip 0.000572 11.84 3.4372 FAM65B rs9461073 6:24828262:C:T 6 24828262 C T 6:24828490 0.992638 57147 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of muscle and tendon at wrist and hand level 0.000565 0.1533 0.0445 SLE (Finngen) 0.0001321 0.544 0.142 FAM65B rs189463989 6:24842962:G:A 6 24842962 G A 6:24843190 0.997808 0.00678574 24 2469 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psoriasis 1.41e-05 0.6745 0.1553 Peripheral retinal degeneration 4.665e-05 42.781 10.507 FAM65B rs35780910 6:24843224:G:A 6 24843224 G A 6:24843452 0.997018 777 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Somnolence, stupor and coma 0.000351 2.8706 0.803 FAM65B rs34298086 6:24843427:G:C 6 24843427 G C 6:24843655 0.997765 770 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Somnolence, stupor and coma 0.000349 2.8736 0.8035 FAM65B rs34016544 6:24843512:C:T 6 24843512 C T 6:24843740 0.997018 777 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Somnolence, stupor and coma 0.000362 2.8539 0.8002 FAM65B rs74477879 6:24847623:G:C 6 24847623 G C 6:24847851 0.984054 273 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital deformities of hip 0.000573 11.8346 3.4364 FAM65B rs35254980 6:24848117:C:A 6 24848117 C A 6:24848345 0.984325 273 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital deformities of hip 0.000573 11.8347 3.4364 FAM65B rs35331811 6:24848144:C:T 6 24848144 C T 6:24848372 0.971515 5031 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pathological/recurrent dislocation and subluxation of joint, not elsewhere classified 0.000373 0.667 0.1874 Hypothyroidism,other/unspecified 0.001793 1.04 0.333 FAM65B rs11967003 6:24865431:G:C 6 24865431 G C 6:24865659 0.985603 0.000860126 0 316 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anxious personality disorder 5.31e-05 13.5858 3.3614 AL078584.1 rs148823241 6:25041884:A:G 6 25041884 A G 6:25042112 0.984685 5514 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Vagina (other cancers excluded from controls) 0.000417 1.9272 0.5461 Interstitial lung disease 0.0001731 8.165 2.174 HFE rs149342416 6:26087458:G:C 6 26087458 G C 6:26087686 0.897141 93 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic lower respiratory diseases 0.00377 -0.9982 0.3446 HFE rs1799945 6:26090951:C:G 6 26090951 C G 6:26091179 0.999942 0.109682 4534 35762 missense_variant both Conflicting interpretations of pathogenicity, other Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Hypertension 9.67e-09 0.0914 0.0159 Type 2 diabetes with neurological complications 0.0002927 0.671 0.185 HFE rs1800730 6:26090957:A:T 6 26090957 A T 6:26091185 0.999431 7382 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital iodine-deficiency syndrome/hypothyroidism 0.000166 1.2429 0.3301 Toxic effect of other and unspecified substances 2.87e-05 15.326 3.663 HFE rs146519482 6:26091475:G:C 6 26091475 G C 6:26091703 0.992119 503 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter ILD related to systemic autoimmune disease 0.000112 6.3542 1.6452 HFE rs1800562 6:26092913:G:A 6 26092913 G A 6:26093141 0.99969 0.0370997 602 13028 missense_variant both Conflicting interpretations of pathogenicity, other Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Disorders of iron metabolism 2.77e-60 8.3627 0.5106 Disorders of iron metabolism 9.139e-63 47.458 2.838 HIST1H1E rs141942142 6:26156530:C:T 6 26156530 C T 6:26156758 0.995951 2800 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Finngen Rheumatological endpoints 0.000859 -0.1814 0.0544 Chromosomal abnormalities, not elsewhere classified 0.001097 76.47 23.425 HIST1H1E rs2298090 6:26156845:A:G 6 26156845 A G 6:26157073 0.998783 3718 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of cervix uteri 0.000122 1.2135 0.3159 Persons encountering health services in other circumstances 0.000645 1.538 0.451 BTN2A2 rs73736234 6:26383832:C:T 6 26383832 C T 6:26384060 0.990351 0.00262393 2 962 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 2.08e-06 1.1812 0.2489 BTN2A2 rs57038103 6:26385035:C:G 6 26385035 C G 6:26385263 0.990316 0.00261576 2 959 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 2.04e-06 1.1827 0.249 BTN2A2 rs73736249 6:26392933:A:C 6 26392933 A C 6:26393161 0.991866 0.00229458 2 841 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 5.56e-07 1.2841 0.2565 BTN3A1 rs144114619 6:26407917:T:A 6 26407917 T A 6:26408145 0.99025 1335 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kela-cod for severe mental illness 0.000321 0.79 0.2196 Other maternal disorders predominantly related to pregnancy 8.49e-06 3.897 0.875 PRSS16 rs141138864 6:27255285:AAAGGAGAGCCAGATT:A 6 27255285 AAAGGAGAGCCAGATT A 6:27223064 0.999125 0.116264 5048 37666 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 2.28e-08 0.3028 0.0542 Adult-onset Still disease 0.0003861 0.345 0.097 PGBD1 rs148252586 6:28300890:G:A 6 28300890 G A 6:28268667 0.997292 3668 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of mouth and pharynx 0.000281 0.7515 0.2069 Glucoma-related operations 0.0002178 20.744 5.61 ZSCAN31 rs145866852 6:28326431:CCT:C 6 28326431 CCT C 6:28294208 0.999224 3177 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other menopausal disorders 0.000304 0.9763 0.2703 Localized scleroderma [morphea] 0.001095 78.962 24.185 OR2J3 rs28757581 6:29112227:A:G 6 29112227 A G 6:29080004 0.998448 0.116082 5174 37473 missense_variant dominant Affects association no assertion criteria provided no_Criteria Leiomyoma of uterus (other cancers excluded from controls) 1.37e-06 -0.113 0.0234 Other diseases of the digestive system 0.0008119 0.191 0.057 OR2J3 rs3749977 6:29112567:G:A 6 29112567 G A 6:29080344 0.999957 0.281542 29118 74317 missense_variant dominant Affects association no assertion criteria provided no_Criteria Ankylosing spondylitis 5.71e-16 0.4263 0.0527 Ankylosing spondylitis, strict definition 2.626e-09 0.514 0.086 ZFP57 rs2535241 6:29673008:T:A 6 29673008 T A 6:29640785 0.999939 0.00365281 6 1336 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in other circumstances 7.92e-05 -0.3752 0.0951 Open wound of abdomen, lower back and pelvis 0.001844 48.183 15.472 ZFP57 rs61730330 6:29673552:G:A 6 29673552 G A 6:29641329 0.996289 0.160571 9890 49102 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 2.91e-33 0.6055 0.0504 Type 1 diabetes 6.65e-05 0.294 0.074 ZFP57 rs114591600 6:29673737:C:T 6 29673737 C T 6:29641514 0.999498 0.0382375 598 13450 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Psoriasis 9.73e-07 -0.3303 0.0674 Mental retardation (more controls excluded) 8.384e-05 3.533 0.898 TRIM31 rs146885411 6:30103586:C:A 6 30103586 C A 6:30071363 0.995396 2546 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcer of lower limb, not elsewhere classified 0.000819 0.8326 0.2488 0.0004543 -1.251 0.357 PPP1R18 rs2213944 6:30684952:G:A 6 30684952 G A 6:30652729 0.999098 0.00191623 2 702 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 1.43e-07 1.4118 0.2683 PPP1R18 rs201532420 6:30685631:G:A 6 30685631 G A 6:30653408 0.990645 0.00813037 22 2965 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyarthropathies 9.75e-06 -0.3617 0.0818 Primary coxarthrosis, bilateral 0.0005973 4.484 1.306 MDC1 rs2844707 6:30712186:A:C 6 30712186 A C 6:30679963 0.999355 0.00207138 2 759 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 2.16e-06 1.1948 0.2522 MDC1 rs2517560 6:30713191:C:T 6 30713191 C T 6:30680968 0.999378 0.00214759 2 787 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 6.94e-08 1.4219 0.2637 VARS2 rs6926224 6:30914912:C:T 6 30914912 C T 6:30882689 0.999593 4138 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General examination and investigation of persons without complaint and reported diagnosis 0.00156 -0.195 0.0616 Internar derangement of knee 7.752e-05 1.78 0.451 VARS2 rs6926723 6:30915026:G:A 6 30915026 G A 6:30882803 0.999594 4134 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General examination and investigation of persons without complaint and reported diagnosis 0.00161 -0.1943 0.0616 Internar derangement of knee 0.0002696 1.522 0.418 VARS2 rs141408930 6:30915784:G:A 6 30915784 G A 6:30883561 1 777 start_lost recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter malignant neoplasm of female genital organs 0.000137 1.2647 0.3317 Secondary parkinsonism 0.0005229 125.381 36.146 VARS2 rs2249464 6:30920384:T:C 6 30920384 T C 6:30888161 0.999949 0.633665 147692 85109 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 3.34e-09 -0.2749 0.0465 Coeliac disease 2.195e-08 -0.202 0.036 VARS2 rs55822421 6:30921626:C:A 6 30921626 C A 6:30889403 0.984465 0.0305481 460 10763 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type1 diabetes, definitions combined 8.04e-07 -0.45 0.0912 Retinal haemorrhage 0.0007259 5.44 1.61 VARS2 rs2074506 6:30922706:G:T 6 30922706 G T 6:30890483 0.999965 0.381814 53806 86468 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spondylopathies (FG) 2.56e-14 -0.3046 0.04 Spondylopathies (FG) 4.736e-09 -0.222 0.038 VARS2 rs55865499 6:30923211:G:A 6 30923211 G A 6:30890988 0.998929 0.0146249 90 5283 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes 7.5e-21 0.7413 0.0791 Type 1 diabetes, strict definition 0.003027 1.972 0.665 VARS2 rs9394021 6:30925350:G:A 6 30925350 G A 6:30893127 0.999967 0.251865 23570 68962 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ankylosing spondylitis 1.07e-31 0.6157 0.0526 7.009e-15 0.318 0.041 VARS2 rs2252863 6:30925651:G:A 6 30925651 G A 6:30893428 0.998178 0.38195 53892 86432 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylopathies (FG) 2.97e-14 -0.3039 0.04 Spondylopathies (FG) 4.997e-09 -0.221 0.038 VARS2 rs4678 6:30926164:G:A 6 30926164 G A 6:30893941 0.999046 0.14488 7750 45477 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 1.45e-51 0.8566 0.0567 Other diseases of the digestive system 2.236e-11 0.294 0.044 DPCR1 rs138097862 6:30948868:G:A 6 30948868 G A 6:30916645 0.996906 275 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bulimia nervosa (incl. atypical) 0.000114 7.5268 1.9505 CDSN rs145583110 6:31116168:C:T 6 31116168 C T 6:31083945 0.992104 0.00212854 6 776 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endocarditis 5.67e-05 5.5224 1.3716 Other keratitis 0.004403 23.083 8.106 CDSN rs117951780 6:31116257:C:T 6 31116257 C T 6:31084034 0.99973 0.000960837 0 353 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter UC patients in KELA-register ( KELA 208 prior to 1994, or ICD K51) 5.55e-05 2.5834 0.6408 CDSN rs150846158 6:31116313:G:T 6 31116313 G T 6:31084090 0.996397 0.0149216 142 5340 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 1 1.08e-10 -0.6191 0.0959 Other specific joint derangements/joint disorders 7.8e-05 1.11 0.281 CDSN rs193021253 6:31116467:C:T 6 31116467 C T 6:31084244 0.995978 0.00491578 14 1792 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified psoriasis 1.09e-06 2.4351 0.4996 Other specified and unspecified retinal disorders 0.00245 39.553 13.056 CDSN rs144038841 6:31117159:G:C 6 31117159 G C 6:31084936 0.998602 440 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dystonia 0.000195 4.3353 1.1638 CDSN rs200396521 6:31117164:T:A 6 31117164 T A 6:31084941 0.99866 459 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dystonia 0.000233 4.1845 1.1371 MICA rs1140700 6:31412040:T:C 6 31412040 T C 6:31379817 0.99961 0.420743 65726 88850 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylopathies (FG) 1.31e-70 0.7525 0.0424 Iridocyclitis 2.229e-27 0.313 0.029 MICA rs41540613 6:31412063:G:C 6 31412063 G C 6:31379840 0.998678 0.00418087 14 1522 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism,other/unspecified 7.26e-05 0.377 0.095 Guttate psoriasis 0.0007032 106.975 31.572 MICA rs1063635 6:31412154:G:A 6 31412154 G A 6:31379931 0.999832 0.420809 65590 89010 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylopathies (FG) 3.86e-70 0.7501 0.0424 Iridocyclitis 4.024e-27 0.311 0.029 LTA rs1041981 6:31573007:C:A 6 31573007 C A 6:31540784 0.999774 0.327542 40054 80281 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Coeliac disease 3.69e-40 0.5977 0.0451 6.273e-22 0.28 0.029 LTB rs2229699 6:31581079:G:A 6 31581079 G A 6:31548856 0.994962 490 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dystonia 0.000455 3.6508 1.0413 LTB rs4647187 6:31581580:G:A 6 31581580 G A 6:31549357 0.996748 213 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypersensitivity pneumonitis due to organic dust 0.000836 11.3345 3.3931 Tinnitus 0.0001492 19.917 5.252 LY6G6C rs117894946 6:31719250:G:C 6 31719250 G C 6:31687027 0.998352 0.000860126 0 316 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Proliferative diabetic retinopathy 5.08e-05 1.3485 0.3328 C6orf25 rs150417881 6:31724618:C:T 6 31724618 C T 6:31692395 0.992775 0.011247 66 4066 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute and subacute iridocyclitis 3.17e-06 0.6607 0.1418 Cardiovascular diseases 0.0003346 0.747 0.208 MSH5 rs2075789 6:31740551:C:T 6 31740551 C T 6:31708328 0.998879 0.170016 10660 51802 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing spondylitis 4.09e-27 0.6553 0.0608 Ankylosing spondylitis 1.013e-09 0.579 0.095 SAPCD1 rs6905572 6:31764104:C:T 6 31764104 C T 6:31731881 0.99998 0.291194 31852 75129 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing spondylitis 5.73e-38 0.7614 0.0591 Ankylosing spondylitis 1.42e-17 0.541 0.063 VARS rs5030798 6:31779733:C:T 6 31779733 C T 6:31747510 0.998504 0.000862848 0 317 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Proliferative diabetic retinopathy 5.11e-05 1.3476 0.3327 VARS rs11531 6:31782732:G:A 6 31782732 G A 6:31750509 0.999101 1751 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obesity, other/unspecified 0.000289 0.6915 0.1908 Gout, FINNGEN 0.0006915 4.871 1.436 HSPA1L rs2227955 6:31810300:T:G 6 31810300 T G 6:31778077 0.999062 6912 missense_variant unknown association association no assertion criteria provided no_Criteria Other bursitis of knee 0.000151 1.9702 0.52 Family history of certain disabilities and chronic diseases leading to disablement 0.0001647 8.995 2.387 HSPA1L rs34620296 6:31811171:C:T 6 31811171 C T 6:31778948 0.996167 0.00249328 10 906 missense_variant unknown association association no assertion criteria provided no_Criteria Other/unspecified synovitis and tenosynovitis 1.1e-05 1.9432 0.442 Contracture of joint 0.000359 206.406 57.84 SLC44A4 rs117127493 6:31869232:G:C 6 31869232 G C 6:31837009 0.993019 0.00086557 0 318 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Proliferative diabetic retinopathy 2.78e-05 1.4079 0.336 EHMT2 rs149384831 6:31896633:C:T 6 31896633 C T 6:31864410 0.984532 269 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute appendicitis, with complications 0.000237 2.0653 0.5619 C2 rs1252372987 6:31934288:ATGGTGGACAGGGTCAGGAATCAGGAGTC:A 6 31934288 ATGGTGGACAGGGTCAGGAATCAGGAGTC A 6:31902065 0.993091 0.00552005 22 2006 LC recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes 3.26e-05 -0.7972 0.1919 Von Willebrand disease 0.000819 97.351 29.092 C2 rs9332739 6:31936027:G:C 6 31936027 G C 6:31903804 0.999319 0.0540246 1094 18754 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Demyelenating diseases of the central nervous system 1.78e-10 0.675 0.1058 Dysplasia of cervi uteri 0.001199 0.563 0.174 C2 rs36221133 6:31944746:T:C 6 31944746 T C 6:31912523 0.999217 780 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Failed attempted abortion 0.000118 7.7482 2.0128 Other lack of coordination 0.0006408 122.245 35.81 CFB rs4151667 6:31946247:T:A 6 31946247 T A 6:31914024 0.999207 0.053943 930 18888 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Demyelenating diseases of the central nervous system 5.67e-10 0.6573 0.106 Dysplasia of cervi uteri 0.0004868 0.669 0.192 CFB rs12614 6:31946402:C:T 6 31946402 C T 6:31914179 0.999784 0.14384 7694 45151 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 2.26e-19 1.0492 0.1166 Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 0.0002972 0.164 0.045 CFB rs641153 6:31946403:G:A 6 31946403 G A 6:31914180 0.998877 0.0644278 1562 22108 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, wide definition, subgroup 1 6.09e-31 -0.6638 0.0574 Benign neoplasm: Transverse colon (other cancers excluded from controls) 2.632e-05 1.557 0.371 CFB rs4151651 6:31947837:G:A 6 31947837 G A 6:31915614 0.999595 0.0313483 386 11131 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing spondylitis 2.03e-11 0.8987 0.1341 Haemorrhage in early pregnancy 0.000395 1.38 0.39 CFB rs4151659 6:31950687:A:G 6 31950687 A G 6:31918464 0.99972 0.00286074 8 1043 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 1 6.99e-12 1.554 0.2266 0.0002698 11.155 3.062 CFB rs45484591 6:31950691:A:C 6 31950691 A C 6:31918468 0.999569 543 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Optic neuritis 0.000124 4.7323 1.2328 NELFE rs752482151 6:31954663:TGTCTCGATCCCG:T 6 31954663 TGTCTCGATCCCG T 6:31922440 0.997352 0.00615698 12 2250 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Use of eye-antiallergens (taken as indicator of allergic/atopic conjunctivitis) 3.79e-05 0.4629 0.1124 Procreative management 0.0002259 17.843 4.838 SKIV2L rs438999 6:31960529:A:G 6 31960529 A G 6:31928306 0.999973 0.0644087 1538 22125 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, wide definition, subgroup 1 4.6e-31 -0.6662 0.0575 Benign neoplasm: Transverse colon (other cancers excluded from controls) 2.1e-05 1.602 0.377 SKIV2L rs145042380 6:31961081:C:T 6 31961081 C T 6:31928858 0.983511 164 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Traumatic amputation of wrist and hand 0.00195 7.6121 2.4577 SKIV2L rs437179 6:31961237:A:C 6 31961237 A C 6:31929014 0.999968 0.717174 189076 74405 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 2.73e-33 -0.6634 0.0552 Coeliac disease 2.515e-34 -0.452 0.037 SKIV2L rs36038685 6:31961960:C:T 6 31961960 C T 6:31929737 0.987734 287 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oesophageal obstruction 0.00104 6.1028 1.8612 SKIV2L rs144147284 6:31963970:G:A 6 31963970 G A 6:31931747 0.999056 458 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Spondylolisthesis/Spondylolysis 0.00137 1.6947 0.5296 Otalgia 0.002569 37.401 12.405 SKIV2L rs3911893 6:31967790:G:A 6 31967790 G A 6:31935567 0.999648 0.0315416 414 11174 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rheumatoid arthritis 3.09e-06 -0.31 0.0665 Other heart diseases 0.0005575 -0.366 0.106 SKIV2L rs106287 6:31967973:G:A 6 31967973 G A 6:31935750 0.998836 0.00382702 20 1386 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition 9.25e-05 -0.6394 0.1636 Other/unspecified enthesopathies of lower limb, excluding foot 0.0002578 19.102 5.227 SKIV2L rs449643 6:31968902:C:T 6 31968902 C T 6:31936679 0.999932 0.0767118 2258 25925 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes 6.58e-36 -0.5891 0.0471 Type 1 diabetes 8.664e-06 -0.512 0.115 DXO rs17207867 6:31970635:G:T 6 31970635 G T 6:31938412 0.999788 0.05547 1198 19181 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psoriasis 7.82e-47 0.8306 0.0578 Psoriasis 1.923e-08 0.896 0.159 CYP21A2 rs1340414849 6:32038437:CCTG:C 6 32038437 CCTG C 6:32006214 0.983915 0.332972 40740 81590 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 1.02e-17 -0.4073 0.0475 Coeliac disease 3.178e-08 -0.305 0.055 CYP21A2 rs6472 6:32040072:G:C 6 32040072 G C 6:32007849 0.999148 0.0719811 1974 24471 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, wide definition, subgroup 1 2.58e-32 -0.6454 0.0545 Type 1 diabetes 1.55e-05 -0.528 0.122 CYP21A2 rs6471 6:32040110:G:T 6 32040110 G T 6:32007887 0.971023 908 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified degenerative diseases of nervous system 0.000138 5.8498 1.535 General examination and investigation of persons without complaint and reported diagnosis 0 4.64 0 TNXB rs17421133 6:32042495:T:A 6 32042495 T A 6:32010272 0.999456 0.365151 49018 85134 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 1.91e-19 -0.4259 0.0472 Coeliac disease 4.835e-08 -0.273 0.05 TNXB rs9267795 6:32049386:C:A 6 32049386 C A 6:32017163 0.99915 0.00448028 14 1632 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 6.8e-12 1.2866 0.1875 0.0008697 8.645 2.596 TNXB rs41270450 6:32049396:G:C 6 32049396 G C 6:32017173 0.999649 0.128382 6280 40886 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 4.95e-24 1.4939 0.1478 Purpura and other haemorrhagic conditions 7.198e-05 0.469 0.118 TNXB rs41258944 6:32049465:C:T 6 32049465 C T 6:32017242 0.999254 0.0220094 232 7854 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 1 8.83e-16 -0.7792 0.0969 Disorders of iron metabolism 4.608e-08 39.675 7.259 TNXB rs202113575 6:32050123:C:T 6 32050123 C T 6:32017900 0.92783 819 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other problems related to primary support group, including family circumstances 0.000182 1.8164 0.4853 TNXB rs17207895 6:32052735:T:C 6 32052735 T C 6:32020512 0.992116 0.0202674 178 7268 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seropositive rheumatoid arthritis 1.29e-06 -0.4619 0.0954 Mental and behavioural disorders due to opioids 6.925e-06 10.758 2.393 TNXB rs149492184 6:32052940:G:T 6 32052940 G T 6:32020717 0.998841 0.00177197 6 645 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Failed attempted abortion 3.8e-05 10.0509 2.44 Type 2 diabetes, strict (exclude DM1) 0 2.575 0 TNXB rs61745355 6:32053637:C:T 6 32053637 C T 6:32021414 0.999269 0.118646 5368 38221 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 6.07e-35 2.2405 0.1817 Purpura and other haemorrhagic conditions 1.481e-05 0.567 0.131 TNXB rs440160 6:32056126:G:C 6 32056126 G C 6:32023903 0.998462 0.00467353 26 1691 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, strict definition 5.63e-05 -1.0603 0.2633 Cervicalgia 0.0002528 6.894 1.884 TNXB rs28361051 6:32056597:A:G 6 32056597 A G 6:32024374 0.992283 0.0259644 300 9239 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes without complications 1.34e-10 -0.5346 0.0832 Degeneration of nervous system due to alcohol 0.000352 7.018 1.964 TNXB rs10947230 6:32056618:C:T 6 32056618 C T 6:32024395 0.999716 0.147713 8320 45948 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 9.58e-21 1.1814 0.1265 Malignant neoplasm of stomach (other cancers excluded from controls) 0.0004367 0.642 0.183 TNXB rs2066982 6:32058093:C:T 6 32058093 C T 6:32025870 0.999722 0.0721227 2012 24485 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 1 2.09e-31 -0.6343 0.0544 Type 1 diabetes 1.497e-05 -0.527 0.122 TNXB rs1009382 6:32058330:C:T 6 32058330 C T 6:32026107 0.999581 0.657164 158934 82500 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 6e-10 0.3204 0.0518 Ankylosing spondylitis 1.536e-07 -0.194 0.037 TNXB rs2269429 6:32061406:C:T 6 32061406 C T 6:32029183 0.999908 0.0717361 1992 24363 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, wide definition, subgroup 1 3.97e-31 -0.6319 0.0545 Type 1 diabetes 1.646e-05 -0.526 0.122 TNXB rs12524664 6:32061654:G:A 6 32061654 G A 6:32029431 0.999707 0.147697 8320 45942 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 7.99e-21 1.1852 0.1266 Malignant neoplasm of stomach (other cancers excluded from controls) 0.0004369 0.642 0.183 TNXB rs140770834 6:32064851:C:G 6 32064851 C G 6:32032628 0.988984 0.000914564 2 334 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Proliferative diabetic retinopathy 2.13e-05 1.3828 0.3253 TNXB rs142409885 6:32065013:G:T 6 32065013 G T 6:32032790 0.996106 355 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders related to short gestation and low birth weight, not elsewhere classified 0.00172 6.4668 2.0632 TNXB rs9469081 6:32067826:C:T 6 32067826 C T 6:32035603 0.999425 0.0721363 2014 24488 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 1 2.1e-31 -0.6342 0.0544 Type 1 diabetes 1.399e-05 -0.529 0.122 TNXB rs17207923 6:32069011:C:T 6 32069011 C T 6:32036788 0.998554 0.00472525 22 1714 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Interstitial lung disease endpoints 1.44e-06 -0.4422 0.0917 Hypertrophy of breast 0.0007617 10.789 3.205 TNXB rs146120469 6:32073766:G:A 6 32073766 G A 6:32041543 0.991605 0.000443673 0 163 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tubulo-interstitial nephritis, not spesified as acute or chronic 6.21e-05 6.601 1.6483 TNXB rs61740336 6:32073884:C:T 6 32073884 C T 6:32041661 0.930707 176 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Otosclerosis 0.00175 4.4308 1.4155 TNXB rs9267799 6:32079167:C:T 6 32079167 C T 6:32046944 0.99832 0.00500289 14 1824 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 1.54e-10 1.1291 0.1764 0.001208 6.339 1.958 TNXB rs12211410 6:32081646:C:T 6 32081646 C T 6:32049423 0.99956 0.054599 1128 18931 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psoriasis 1.4e-46 0.834 0.0582 Psoriasis 5.626e-08 0.882 0.162 TNXB rs185819 6:32082290:T:C 6 32082290 T C 6:32050067 0.999941 0.523879 100970 91497 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 6.9e-48 -0.6746 0.0464 Type 1 diabetes, wide definition, subgroup 1 3.269e-29 -0.236 0.021 TNXB rs149995364 6:32084439:C:T 6 32084439 C T 6:32052216 0.998961 0.00177197 6 645 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Failed attempted abortion 3.8e-05 10.0516 2.4401 Soft tissue disorders 2.509e-05 1.736 0.412 TNXB rs61995676 6:32084667:C:T 6 32084667 C T 6:32052444 0.999658 0.028112 322 10006 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of the thyroid gland 7.66e-06 -0.1498 0.0335 Symptoms and signs involving the circulatory and respiratory systems 0.0003599 -0.344 0.096 TNXB rs204900 6:32088803:A:C 6 32088803 A C 6:32056580 0.999932 0.0721335 2004 24497 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, wide definition, subgroup 1 2.12e-31 -0.6343 0.0544 1.343e-05 -0.16 0.037 TNXB rs141190850 6:32095823:T:C 6 32095823 T C 6:32063600 0.991906 0.00384879 14 1400 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spondylopathies (FG) 2.64e-08 1.6547 0.2974 Otalgia 4.006e-05 41.199 10.031 TNXB rs17201602 6:32095904:C:T 6 32095904 C T 6:32063681 0.998317 0.0157409 140 5643 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 7.56e-07 -0.5309 0.1073 Bell's palsy 0.0004486 3.842 1.095 TNXB rs204896 6:32096321:C:T 6 32096321 C T 6:32064098 0.999844 0.0716137 1964 24346 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 1 9.24e-33 -0.6538 0.0548 1.4e-05 -0.162 0.037 TNXB rs1150752 6:32096949:T:C 6 32096949 T C 6:32064726 0.999736 0.0916361 3232 30434 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 6.81e-149 1.7324 0.0667 Other diseases of the digestive system 3.047e-20 0.63 0.068 TNXB rs41270461 6:32097246:C:T 6 32097246 C T 6:32065023 0.998864 0.0145895 120 5240 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 1.84e-06 -0.5235 0.1098 Postpartum haemorrhage 0.0004076 2.716 0.768 TNXB rs61746206 6:32097336:C:T 6 32097336 C T 6:32065113 0.998319 0.0209588 154 7546 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 1 1.28e-12 -0.6875 0.0969 Human immunodeficiency virus [HIV] disease 0.002676 6.557 2.184 TNXB rs201922477 6:32097988:C:A 6 32097988 C A 6:32065765 0.985182 0.000811132 0 298 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital deformities of hip 6.78e-05 13.0654 3.2795 ATF6B rs147955878 6:32116560:T:A 6 32116560 T A 6:32084337 0.96585 525 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified epidermal thickening 0.000182 6.2695 1.6754 Other keratitis 0.002898 39.701 13.33 AGER rs3176931 6:32181363:C:T 6 32181363 C T 6:32149140 0.959583 222 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Premature rupture of membranes 0.00133 2.2626 0.7049 AGER rs80096349 6:32183681:G:A 6 32183681 G A 6:32151458 0.999426 643 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of anus and rectum 0.000772 1.0104 0.3005 GPSM3 rs148125791 6:32192154:G:C 6 32192154 G C 6:32159931 0.997043 637 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of anus and rectum 0.000575 1.052 0.3056 NOTCH4 rs201260854 6:32202536:C:T 6 32202536 C T 6:32170313 0.993195 0.00683201 26 2484 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psoriasis (vulgaris), strict definition 3.71e-05 2.9981 0.7269 Benign neoplasm: Rectum/anal canal icd-9 (other cancers excluded from controls) 0.001096 75.768 23.209 NOTCH4 rs150079294 6:32212907:A:C 6 32212907 A C 6:32180684 0.995773 282 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism and >3 levothyroxin purchases 0.00128 -0.8545 0.2654 Intestinal infectious diseases 0.005304 4.542 1.629 TAP2 rs241448 6:32828908:A:G 6 32828908 A G 6:32796685 0.99986 0.32562 39342 80287 stop_lost recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, wide definition, subgroup 1 7.06e-65 -0.5785 0.034 Type 1 diabetes, wide definition, subgroup 1 1.055e-15 -0.298 0.037 TAP2 rs241447 6:32828974:T:C 6 32828974 T C 6:32796751 0.999796 0.325648 39312 80327 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes without complications 1.09e-65 -0.5749 0.0336 Type 1 diabetes, wide definition, subgroup 1 7.201e-16 -0.3 0.037 TAP2 rs1800454 6:32832635:C:T 6 32832635 C T 6:32800412 0.999869 0.138252 7002 43790 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 9.15e-36 -0.4714 0.0378 5.255e-09 -0.318 0.054 TAP2 rs143726288 6:32832800:C:T 6 32832800 C T 6:32800577 0.986664 856 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Later onset COPD 0.000333 1.252 0.3489 PSMB8 rs2071543 6:32843852:G:T 6 32843852 G T 6:32811629 0.999213 0.124577 5640 40128 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes 1.81e-98 0.7103 0.0337 7.411e-23 0.488 0.05 PSMB8 rs114772012 6:32843975:C:T 6 32843975 C T 6:32811752 0.999496 0.0417923 670 14684 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seropositive rheumatoid arthritis 2.49e-07 -0.3257 0.0631 Drug-induced osteoporosis with pathological fracture 0.0004113 6.669 1.888 TAP1 rs121917702 6:32847132:C:T 6 32847132 C T 6:32814909 0.962623 499 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of kidney, except renal pelvis 0.000292 2.953 0.8153 Acute lymphadenitis 0.001018 82.973 25.255 TAP1 rs1057149 6:32847165:C:T 6 32847165 C T 6:32814942 0.999637 0.00290429 6 1061 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspesified kidney failure 1.31e-05 2.6927 0.6179 Carpal tunnel syndrome 0 6.111 0 TAP1 rs1135216 6:32847198:T:C 6 32847198 T C 6:32814975 0.999909 0.178699 11946 53706 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 1.96e-21 -0.5026 0.0529 Coeliac disease 1.199e-07 -0.44 0.083 TAP1 rs41561219 6:32848666:C:T 6 32848666 C T 6:32816443 0.999468 0.0344568 466 12193 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 1 2.79e-10 -0.4528 0.0718 Dementia due to Parkinsons disease 9.323e-05 5.893 1.508 TAP1 rs41550019 6:32848995:C:A 6 32848995 C A 6:32816772 0.998458 0.00287707 6 1051 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspesified kidney failure 1.11e-05 2.7454 0.6248 Carpal tunnel syndrome 0 6.111 0 TAP1 rs2127679 6:32850459:G:A 6 32850459 G A 6:32818236 0.999681 0.034552 460 12234 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 1 2.06e-10 -0.456 0.0717 Dementia due to Parkinsons disease 9.003e-05 5.945 1.518 TAP1 rs1057141 6:32850997:T:C 6 32850997 T C 6:32818774 0.999882 0.209844 16262 60832 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 8.19e-21 -0.4621 0.0494 Coeliac disease 1.58e-08 -0.398 0.07 TAP1 rs147255912 6:32853153:C:T 6 32853153 C T 6:32820930 0.990946 0.00152155 2 557 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to tobacco 3.21e-05 3.7558 0.9033 BRD2 rs55650502 6:32974500:G:A 6 32974500 G A 6:32942277 0.940751 5558 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of eyelid, including canthus (other cancers excluded from controls) 0.000622 2.2997 0.6721 Noise effects on inner ear 0.003496 5.678 1.944 BRD2 rs176250 6:32976351:C:T 6 32976351 C T 6:32944128 0.962612 1228 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicocranial syndrome 0.00081 1.4024 0.4187 0.000463 2.353 0.672 BRD2 rs200663348 6:32977921:TGAG:T 6 32977921 TGAG T 6:32945698 0.97354 0.0110074 56 3988 inframe_indel unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Psoriasis 2.07e-10 0.7912 0.1245 Alogoneurodystrophy 0.0003689 16.457 4.621 BRD2 rs34530779 6:32978252:G:A 6 32978252 G A 6:32946029 0.997101 620 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other infectious diseases 0.00121 2.0436 0.6312 BRD2 rs55952113 6:32978342:G:C 6 32978342 G C 6:32946119 0.988759 152 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transient ischemic attack 0.00112 1.7459 0.5358 HLA-DPA1 rs56046206 6:33068771:G:A 6 33068771 G A 6:33036548 0.993622 0.017717 112 6397 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 1 1.16e-09 -0.7527 0.1237 Mixed and other personality disorders 0.0003334 3.643 1.015 HLA-DPB1 rs1042140 6:33080863:A:G 6 33080863 A G 6:33048640 0.994537 0.170931 11036 51762 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Coeliac disease 9.7e-09 -0.3118 0.0544 Other inflammation of eyelid 0.0001715 0.37 0.099 COL11A2 rs2229792 6:33163724:G:A 6 33163724 G A 6:33131501 0.999666 0.022777 190 8178 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rash and other nonspecific skin eruption 6.79e-06 0.6465 0.1437 Loose body in joint 0.002613 6.822 2.267 COL11A2 rs1799912 6:33164916:C:T 6 33164916 C T 6:33132693 0.954186 0.00115954 0 426 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other complications of surgical and medical care, not elsewhere classified 4.25e-05 4.1298 1.0088 COL11A2 rs2229784 6:33168533:G:T 6 33168533 G T 6:33136310 0.998582 2372 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, strict definition, subgroup 1 0.000295 -0.8506 0.235 Dislocation, sprain and strain of joints and ligaments of knee 0.002078 3.297 1.071 COL11A2 rs2855430 6:33173503:G:A 6 33173503 G A 6:33141280 0.999963 0.170819 10668 52089 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seropositive rheumatoid arthritis, wide 2.68e-19 -0.307 0.0342 3.771e-05 -0.22 0.053 COL11A2 rs145499142 6:33178970:G:A 6 33178970 G A 6:33146747 0.99589 538 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Vitreous bleeding (caused by prolif. dmrp when together with H36.03*) 0.000264 2.6316 0.7213 COL11A2 rs41268014 6:33189068:C:G 6 33189068 C G 6:33156845 0.968643 1600 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pain in joint 0.000308 -0.435 0.1206 Arthropathies 0 1.895 0 SLC39A7 rs76929655 6:33201405:T:C 6 33201405 T C 6:33169182 0.995498 2311 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dependent personality disorder 0.000646 1.9433 0.5697 Presence of other devices 0.0006284 13.514 3.952 TAPBP rs2071888 6:33305078:G:C 6 33305078 G C 6:33272855 0.999815 0.527034 102268 91358 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 5.49e-11 -0.261 0.0398 Coeliac disease 6.358e-09 -0.185 0.032 TAPBP rs45583737 6:33313727:C:A 6 33313727 C A 6:33281504 0.930597 0.00256677 12 931 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholelithiasis, broad definition with cholecystitis 9.95e-05 0.4911 0.1262 Problems related to housing and economic circumstances 0.0004603 164.076 46.84 ZBTB22 rs3130100 6:33315989:T:C 6 33315989 T C 6:33283766 0.999772 0.524685 101394 91369 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 9.29e-11 -0.2575 0.0398 Coeliac disease 6.434e-09 -0.185 0.032 DAXX rs146304558 6:33320019:G:C 6 33320019 G C 6:33287796 0.961181 720 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dystonia 0.00413 2.1976 0.7662 SYNGAP1 rs191549504 6:33443896:T:C 6 33443896 T C 6:33411673 0.994912 0.0185798 146 6680 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Iridocyclitis 2.03e-05 -0.4493 0.1054 Concussion 0.0001144 1.32 0.342 ITPR3 rs200701659 6:33663742:C:T 6 33663742 C T 6:33631519 0.99803 326 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other follicular disorders 0.00109 3.5819 1.0965 ITPR3 rs2229633 6:33670361:C:A 6 33670361 C A 6:33638138 0.930451 338 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other symptoms and signs involving the circulatory and respiratory systems 0.0013 4.3721 1.3595 UHRF1BP1 rs34672415 6:34871867:G:A 6 34871867 G A 6:34839644 0.999765 1227 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pollen allergy 0.000247 1.0335 0.2819 Severe diabetic background retinopathy 0.001496 48.629 15.314 ANKS1A rs62402705 6:35017781:C:G 6 35017781 C G 6:34985558 0.889463 594 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hernia 0.000931 0.4637 0.1401 SCUBE3 rs79753406 6:35233280:A:G 6 35233280 A G 6:35201057 0.989825 1506 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma and allergy (more controls excluded) 0.000408 1.0273 0.2906 Degenerative macular diseases 0.0004442 12.833 3.654 FANCE rs145068586 6:35455751:C:T 6 35455751 C T 6:35423528 0.996059 0.0118322 72 4275 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of anus and rectum 4.11e-05 0.4712 0.1149 Mesothelioma (other cancers excluded from controls) 4.146e-05 46.358 11.309 FANCE rs45600543 6:35455764:G:T 6 35455764 G T 6:35423541 0.994564 276 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of other and ill-defined parts of digestive system 0.00076 2.4674 0.7328 FANCE rs7761870 6:35456109:C:T 6 35456109 C T 6:35423886 0.999497 1051 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Demyelenating diseases of the central nervous system 0.00275 1.2997 0.434 0.0004796 -11.836 3.39 FANCE rs142903218 6:35459754:T:C 6 35459754 T C 6:35427531 0.995188 0.0145214 100 5235 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lower back pain or/and sciatica 1.36e-05 0.2219 0.051 Monoplegia 0.000144 26.863 7.067 FANCE rs9462088 6:35462909:G:A 6 35462909 G A 6:35430686 0.98423 0.0392256 564 13847 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 1.22e-07 0.4525 0.0855 Coeliac disease 0.0002064 0.94 0.253 TULP1 rs2064318 6:35509248:C:G 6 35509248 C G 6:35477025 0.995811 0.788341 228478 61149 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 1.85e-05 -0.1964 0.0459 Injuries to the knee and lower leg 0.0004467 0.026 0.007 TULP1 rs2064317 6:35509255:A:G 6 35509255 A G 6:35477032 0.999024 87629 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other/unspecified rheumatoid arthritis 0.000239 0.1403 0.0382 Other/unspecified rheumatoid arthritis 0.0001404 0.139 0.036 TULP1 rs142641513 6:35509884:T:C 6 35509884 T C 6:35477661 0.984213 2754 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Varus deformity, not elsewhere classified 0.000453 3.1214 0.89 Other papulosquamous disorders 0.001478 61.131 19.23 TULP1 rs7764472 6:35511797:G:C 6 35511797 G C 6:35479574 0.997456 0.822956 249054 53290 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 5.15e-06 -0.2234 0.049 Coeliac disease 7.8e-05 -0.113 0.029 SLC26A8 rs35886585 6:35951188:C:T 6 35951188 C T 6:35918965 0.959661 3354 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Keratitis and keratoconjunctivitis in other diseases classified elsewhere 0.000154 1.7173 0.4538 Dislocation, sprain and strain of joints and ligaments of knee 0.0009901 2.729 0.829 MAPK13 rs55776345 6:36131273:C:T 6 36131273 C T 6:36099050 0.969048 0.0140778 42 5130 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obesity and other hyperalimentation 5.34e-05 0.3326 0.0823 Enlarged lymph nodes 0.0001436 9.026 2.374 PNPLA1 rs34598813 6:36301948:A:G 6 36301948 A G 6:36269725 0.984719 15718 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD-related respiratory insufficiency 0.000246 -0.2183 0.0595 Hydrocele 0.002349 0.887 0.292 PNPLA1 rs12199580 6:36302353:C:A 6 36302353 C A 6:36270130 0.996157 90892 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic hepatitis, not elsewhere classified 0.000475 0.263 0.0753 Herpesviral keratitis and keratoconjunctivitis 0.0003144 0.214 0.059 PNPLA1 rs45621032 6:36306371:T:A 6 36306371 T A 6:36274148 0.991965 1589 LC recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetic polyneuropathy 0.000129 3.0475 0.7959 Acute and subacute iridocyclitis 0 17.627 0 PNPLA1 rs12197079 6:36306376:C:T 6 36306376 C T 6:36274153 0.993125 77560 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vasomotor rhinitis (mode) 0.00161 0.1792 0.0568 Fracture of rib(s), sternum and thoracic spine 0.0005659 0.11 0.032 PNPLA1 rs4713956 6:36307681:T:C 6 36307681 T C 6:36275458 0.996259 79973 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified diabetes without complications 0.000972 -0.171 0.0518 Malignant neoplasm of other connective and soft tissue 0.0005598 0.238 0.069 ETV7 rs138338549 6:36369026:G:A 6 36369026 G A 6:36336803 0.998563 0.0182613 142 6567 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of colon 4.45e-06 0.6778 0.1477 Malignant neoplasm of breast (other cancers excluded from controls) 0.00174 1.143 0.365 CDKN1A rs1801270 6:36684194:C:A 6 36684194 C A 6:36651971 0.996989 19227 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Other skin changes 0.00145 0.3222 0.1012 Glomerular diseases 0.0002219 0.642 0.174 CDKN1A rs34916193 6:36684352:G:A 6 36684352 G A 6:36652129 0.898109 588 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of lower leg 0.00153 1.7936 0.5659 0 2.028 0 CDKN1A rs148679597 6:36684451:G:A 6 36684451 G A 6:36652228 0.948836 191 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Tongue abnormality 0.00198 5.0554 1.634 FGD2 rs78182287 6:37022253:G:C 6 37022253 G C 6:36990029 0.985831 297 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for specific procedures and health care 0.000435 0.6395 0.1818 GLO1 rs4746 6:38682852:T:G 6 38682852 T G 6:38650628 0.994631 85154 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Labour and delivery complicated by umbilical cord complications 0.000235 -0.276 0.075 Schizoid personality disorder 8.766e-05 0.319 0.081 DNAH8 rs6935293 6:38737167:A:G 6 38737167 A G 6:38704943 0.993378 0.0715483 1984 24302 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Eosinophilia 8.89e-05 0.975 0.2488 Intestinal malabsorbtion 0.000235 1.546 0.42 DNAH8 rs61748600 6:38761735:T:C 6 38761735 T C 6:38729511 0.999286 40774 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of pancreas (other cancers excluded from controls) 0.00099 0.3108 0.0944 Spontaneous rupture of synovium and tendon 0.0008844 0.458 0.138 DNAH8 rs375668014 6:38775941:A:G 6 38775941 A G 6:38743717 0.89048 0.000421897 2 153 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other cataract 7.64e-06 2.6058 0.5823 DNAH8 rs61748601 6:38778400:G:A 6 38778400 G A 6:38746176 0.999619 41174 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of pancreas (other cancers excluded from controls) 0.00119 0.3045 0.0939 Spontaneous rupture of synovium and tendon 0.001095 0.444 0.136 DNAH8 rs45529837 6:38789839:G:A 6 38789839 G A 6:38757615 0.976639 7817 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Malignant neoplasm of lip, oral cavity and pharynx 0.000281 1.974 0.5434 Chronic diseases of tonsils and adenoids 0.0004603 0.65 0.186 DNAH8 rs874808 6:38805517:G:A 6 38805517 G A 6:38773293 0.998511 86194 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Muscle strain 0.000217 0.3259 0.0881 Other diseases of the digestive system 0.001097 0.079 0.024 DNAH8 rs151175737 6:38837951:G:A 6 38837951 G A 6:38805727 0.984403 330 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Endovascular or surgical operations to intracerebral aneurysms 0.0036 4.1745 1.4339 DNAH8 rs78877915 6:38842667:C:T 6 38842667 C T 6:38810443 0.970961 245 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hirsutism 0.000543 12.1406 3.5105 DNAH8 rs61757219 6:38845636:G:T 6 38845636 G T 6:38813412 0.949047 439 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified disorders of vestibular function 0.000291 6.2651 1.729 DNAH8 rs45519938 6:38852717:C:A 6 38852717 C A 6:38820493 0.995156 6652 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Soft tissue disorders 0.000135 -0.1244 0.0326 Congenital malformations of uterus and cervix 0.0003136 18.368 5.097 DNAH8 rs141532428 6:38872668:A:C 6 38872668 A C 6:38840444 0.934254 141 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of muscle and tendon at wrist and hand level 0.000148 4.3969 1.159 DNAH8 rs61758417 6:38872716:G:T 6 38872716 G T 6:38840492 0.990165 377 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sicca syndrome [Sjogren] 0.000833 3.207 0.9598 DNAH8 rs142328376 6:38886870:T:C 6 38886870 T C 6:38854646 0.918478 0.00123031 8 444 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Symptoms and signs involving the circulatory and respiratory systems 5.25e-05 0.4882 0.1207 Melanocytic naevi of lower limb, including hip 0.000515 130.763 37.653 DNAH8 rs138703233 6:38909677:C:A 6 38909677 C A 6:38877453 0.960605 202 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of arteries, arterioles and capillaries (FINNGEN) 0.000622 1.8687 0.5461 DNAH8 rs141263020 6:38923073:G:A 6 38923073 G A 6:38890849 0.998801 2357 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Cardiovascular diseases 0.000418 -0.1853 0.0525 Dronedarone medication 0.0004737 11.738 3.358 DNAH8 rs61757218 6:38938181:C:T 6 38938181 C T 6:38905957 0.962628 651 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Other cataract 0.000547 0.856 0.2476 Benign neoplasm: Bronchus and lung 0.0002221 306.755 83.076 DNAH8 rs146505940 6:38945559:C:T 6 38945559 C T 6:38913335 0.976782 861 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Amyloidosis 0.00107 4.636 1.4169 DNAH8 rs143714496 6:39012224:C:T 6 39012224 C T 6:38980000 0.987682 552 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Subjective visual disturbances 0.000328 1.4878 0.4142 DNAH8 rs10484847 6:39012305:A:G 6 39012305 A G 6:38980081 0.997552 36224 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vitiligo 0.00288 0.6558 0.22 Optic atrophy 0.0006158 1.466 0.428 KCNK5 rs147451811 6:39191171:C:T 6 39191171 C T 6:39158947 0.993266 5729 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities and pulmonary embolism 0.00102 0.2537 0.0772 Mental retardation 3.38e-05 14.649 3.533 KCNK17 rs61748648 6:39314140:C:T 6 39314140 C T 6:39281916 0.976601 0.0202456 150 7288 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of male genital organs (other cancers excluded from controls) 5.92e-05 1.5825 0.394 Perforation of tympanic membrane 0.0006645 3.52 1.034 KIF6 rs20455 6:39357302:A:G 6 39357302 A G 6:39325078 0.999528 83062 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Left bundle-branch block 0.00292 0.1863 0.0626 Disorders of psychological developtment 0.0005713 0.149 0.043 DAAM2 rs199767843 6:39856354:G:A 6 39856354 G A 6:39824130 0.947101 736 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glaucoma, exfoliation 0.00054 1.62 0.4682 MOCS1 rs41273140 6:39906553:C:T 6 39906553 C T 6:39874329 0.926201 7452 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Combined molybdoflavoprotein enzyme deficiency Urticaria 0.00115 0.2719 0.0836 Motor disorders 0.0002829 15.85 4.366 MOCS1 rs11969206 6:39906913:C:A 6 39906913 C A 6:39874689 0.98837 2348 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Combined molybdoflavoprotein enzyme deficiency Dystonia 0.000391 1.4575 0.411 Venous complications and haemorrhoids in pregnancy 0.0005408 141.622 40.935 MOCS1 rs41273142 6:39906952:C:T 6 39906952 C T 6:39874728 0.993829 5976 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Combined molybdoflavoprotein enzyme deficiency Discitis, unspecified 0.000554 2.0183 0.5845 Congenital malformations of genital organs 0.0003162 6.968 1.935 MOCS1 rs11969769 6:39907099:G:T 6 39907099 G T 6:39874875 0.988374 2348 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Combined molybdoflavoprotein enzyme deficiency Dystonia 0.000391 1.4576 0.411 Venous complications and haemorrhoids in pregnancy 0.0005408 141.622 40.935 MOCS1 rs143912353 6:39909873:A:G 6 39909873 A G 6:39877617 0.88135 0.00158143 0 581 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes without complications 7.61e-05 0.8075 0.2041 MOCS1 rs7762875 6:39913358:A:T 6 39913358 A T 6:39881102 0.996521 27831 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Combined molybdoflavoprotein enzyme deficiency Proliferative diabetic retinopathy 0.000478 -0.1169 0.0335 0.0009382 2.333 0.705 MOCS1 rs35825585 6:39913376:G:A 6 39913376 G A 6:39881120 0.995663 2460 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Combined molybdoflavoprotein enzyme deficiency Other disorders of urethra and urinary system 0.00147 0.2748 0.0864 Acute mastoiditis 0.00112 78.228 24.006 MOCS1 rs45487695 6:39927524:C:T 6 39927524 C T 6:39895263 0.966296 1589 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Molybdenum cofactor deficiency, complementation group A;not provided Achilles tendinitis 0.000495 1.1 0.3158 Exophthalmic conditions 0.001591 53.496 16.942 TREM2 rs530314472 6:41158657:C:A 6 41158657 C A 6:41126395 0.993075 344 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of cervix uteri 0.000717 2.5048 0.7404 TREM2 rs142232675 6:41161395:C:T 6 41161395 C T 6:41129133 0.986768 0.00136368 4 497 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Subarachnoid haemmorrhage 4.09e-05 3.2711 0.7974 Dislocation, sprain and strain of joints and ligaments of thorax 0.0004486 167.168 47.631 TREM2 rs143332484 6:41161469:C:T 6 41161469 C T 6:41129207 0.992751 2868 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;not provided;not specified Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.000139 1.1797 0.3096 Crohn disease ( strict definition, require KELA, min 2 HDR) 0.00133 8.483 2.643 TREML2 rs77704965 6:41198416:G:C 6 41198416 G C 6:41166154 0.977841 30731 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other lesions of median nerve 0.000125 -0.5506 0.1435 Vascular disorders of the intestines 0.001256 0.864 0.268 NCR2 rs147357473 6:41336401:G:A 6 41336401 G A 6:41304139 0.975246 0.0150141 112 5404 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Trochanteric bursitis 1.1e-06 0.8715 0.1788 Varus deformity, not elsewhere classified 0.0002261 20.909 5.67 FOXP4 rs141279563 6:41597844:G:A 6 41597844 G A 6:41565582 0.849946 431 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn disease ( strict definition, all UC cases excluded) 0.000484 4.2983 1.2319 USP49 rs111948785 6:41806602:G:T 6 41806602 G T 6:41774340 0.996724 902 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Conjunctiva 0.000572 3.4821 1.0108 RP1-139D8.6 rs1132156 6:42155579:A:C 6 42155579 A C 6:42123317 0.990356 0.701664 180906 76877 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism, levothyroxin purchases 2.81e-05 -0.0691 0.0165 Hypothyroidism, levothyroxin purchases 6.181e-05 -0.043 0.011 GUCA1A rs104893968 6:42173762:C:T 6 42173762 C T 6:42141500 0.964224 0.000579769 0 213 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Giant cell arteritis with polymyalgia rheumatica 8.71e-05 12.1895 3.1063 GUCA1B rs139923590 6:42185690:C:A 6 42185690 C A 6:42153428 0.951048 3681 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant Disorders of orbit 0.00204 1.0865 0.3523 Complications following abortion and ectopic and molar pregnancy 3.685e-05 54.488 13.205 TRERF1 rs61758087 6:42264771:T:C 6 42264771 T C 6:42232509 0.936066 1645 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified tonssillitis 0.000356 0.5597 0.1567 Superficial injury of hip and thigh 0.0002171 22.895 6.191 PRPH2 rs434102 6:42698323:T:C 6 42698323 T C 6:42666061 0.999676 56066 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Motor disorders (more controls excluded) 0.000282 0.5634 0.1552 Motor disorders (more controls excluded) 0.0005232 0.314 0.09 PRPH2 rs425876 6:42698407:C:T 6 42698407 C T 6:42666145 0.998032 31437 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Motor disorders (more controls excluded) 0.00031 0.7357 0.204 Motor disorders (more controls excluded) 0.0004899 0.389 0.112 PRPH2 rs390659 6:42698426:G:C 6 42698426 G C 6:42666164 0.998999 57673 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of genitourinary prosthetic devices, implants and grafts 0.000571 0.4187 0.1215 Problems related to certain psychosocial circumstances 0.0005706 0.107 0.031 PRPH2 rs62645939 6:42698470:G:A 6 42698470 G A 6:42666208 0.964066 184 missense_variant both not provided not_provided no assertion provided none Dermatitis herpetiformis 4e-04 13.4188 3.7903 PRPH2 rs563581127 6:42721968:G:A 6 42721968 G A 6:42689706 0.953726 575 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Endometriosis of intestine 0.000643 7.2473 2.1235 Nonalcoholic fatty liver disease 0.003682 27.231 9.376 PTCRA rs146531157 6:42925516:G:A 6 42925516 G A 6:42893254 0.916107 623 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (multiple infarctations) 0.000401 8.041 2.272 GNMT rs121907889 6:42963149:C:A 6 42963149 C A 6:42930887 0.886059 140 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Eosinophilic disease (BM) 0.00117 19.5395 6.0193 PEX6 rs1129187 6:42964462:G:T 6 42964462 G T 6:42932200 0.983053 86622 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebrovascular diseases 0.000114 0.056 0.0145 Presence of cardiac and vascular implants and grafts 7.867e-05 -0.08 0.02 PEX6 rs2274516 6:42965097:C:T 6 42965097 C T 6:42932835 0.977415 13079 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peroxisome biogenesis disorders, Zellweger syndrome spectrum;not provided;not specified Charcot foot 0.000361 1.4828 0.4157 Symptoms and signs involving emotional state 0.000311 4.305 1.194 PEX6 rs35830695 6:42965726:G:A 6 42965726 G A 6:42933464 0.998749 13112 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Zellweger syndrome;not provided;not specified Parkinson's disease, strict definition (more controls excluded) 0.000874 -0.3451 0.1037 Coxarthrosis, primary 0.003246 0.513 0.174 PEX6 rs2274515 6:42965788:C:T 6 42965788 C T 6:42933526 0.990358 19904 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Zellweger syndrome;not provided;not specified Disorders of synovium and tendon 0.000326 0.1262 0.0351 0.0006163 0.853 0.249 PEX6 rs34324426 6:42967450:C:T 6 42967450 C T 6:42935188 0.951647 665 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Other localized connective tissue disorders 0.000246 6.5749 1.7932 PEX6 rs140769712 6:42967534:G:A 6 42967534 G A 6:42935272 0.962997 210 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hydronephrosis 0.00096 3.659 1.1081 PEX6 rs61752141 6:42978916:C:G 6 42978916 C G 6:42946654 0.98463 8256 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Zellweger syndrome;not specified Scar conditions and fibrosis of skin 0.00153 0.8084 0.2551 Chronic hepatitis, not elsewhere classified 0.0002431 7.844 2.138 PEX6 rs61752141 6:42978916:C:T 6 42978916 C T 6:42946654 0.927835 0.00569697 22 2071 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Zellweger syndrome;not specified Other and unspecified follicular disorders 3.55e-05 2.7685 0.6696 Chirrosis of liver, NAS 2.357e-05 52.806 12.489 CUL7 rs147493246 6:43038278:G:T 6 43038278 G T 6:43006016 0.989553 6313 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Three M syndrome;not provided;not specified Neuralgia and neuritis, unspecified 0.000633 0.8513 0.2491 Traumatic amputation of wrist and hand 0.00369 5.626 1.938 CUL7 rs41274912 6:43038670:A:G 6 43038670 A G 6:43006408 0.985026 0.0122922 74 4442 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Three M syndrome Unspecified diabetes 1.69e-05 0.555 0.129 SLE (Finngen) 2.276e-05 15.623 3.688 CUL7 rs201981113 6:43045317:C:T 6 43045317 C T 6:43013055 0.982713 824 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lichen planus 0.000598 1.5254 0.4444 Dementia in Alzheimer disease 0.0004616 123 35.122 CUL7 rs61750320 6:43046282:C:T 6 43046282 C T 6:43014020 0.986538 285 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Allergic asthma (mode) (more controls excluded) 0.00104 1.5396 0.4694 CUL7 rs9381231 6:43046561:T:C 6 43046561 T C 6:43014299 0.934219 3064 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Visual impairment including blindness (binocular or monocular) 0.00121 -1.011 0.3125 Visual impairment including blindness (binocular or monocular) 0.00104 -0.518 0.158 CUL7 rs200040003 6:43046583:C:T 6 43046583 C T 6:43014321 0.91789 827 missense_variant recessive Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Nonalcoholic fatty liver disease 0.00162 2.1848 0.6929 CUL7 rs141065679 6:43049452:C:T 6 43049452 C T 6:43017190 0.985625 1858 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Three M syndrome Complications following abortion and ectopic and molar pregnancy 0.000102 4.8894 1.2582 Symptoms and signs involving the circulatory and respiratory systems 0.0001962 2.157 0.579 CUL7 rs372224208 6:43051027:TCTC:T 6 43051027 TCTC T 6:43018765 0.991765 0.0117042 60 4240 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified diabetes 8.77e-05 0.5168 0.1317 Systemic lupus erythematosus, unspecified 0.0005664 13.594 3.943 CUL7 rs183865568 6:43052256:C:A 6 43052256 C A 6:43019994 0.996271 1956 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Three M syndrome;not specified Hyperkalaemia 0.00028 2.0618 0.5675 Psychiatric comorbidites (Asthma/COPD) 0.0002879 2.207 0.609 CUL9 rs145911635 6:43187980:G:A 6 43187980 G A 6:43155718 0.945591 779 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tubulo-interstitial nephritis, not spesified as acute or chronic 0.000556 2.2108 0.6404 0.00219 40.646 13.269 TTBK1 rs34993661 6:43263202:C:T 6 43263202 C T 6:43230940 0.993988 4082 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.000118 1.642 0.4264 6.438e-05 37.276 9.328 POLR1C rs141471029 6:43519384:A:G 6 43519384 A G 6:43487122 0.985509 443 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Spondyloarthritis 0.000199 1.7932 0.482 POLR1C rs148979835 6:43520370:G:A 6 43520370 G A 6:43488108 0.872083 84 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pericarditis 0.00322 12.4632 4.2303 POLR1C rs79222964 6:43520406:A:G 6 43520406 A G 6:43488144 0.963508 0.0158035 80 5726 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Treacher Collins Syndrome, Recessive Polyneuropathies and other disorders of the peripheral nervous system 7.97e-05 0.492 0.1247 Other/unspecified soft tissue disorders related to use, overuse and pressure 0.0003113 17.307 4.8 POLH rs2307456 6:43597831:G:T 6 43597831 G T 6:43565568 0.980994 2049 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Xeroderma pigmentosum, variant type;not specified Other meningitis 0.000494 3.5841 1.0288 0.001679 -0.886 0.282 POLH rs200149644 6:43604617:C:T 6 43604617 C T 6:43572354 0.907435 653 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Xeroderma pigmentosum Trigger finger 0.00125 1.6002 0.4959 Lactose intolerance 0.0008374 142.77 42.744 POLH rs747834463 6:43613661:TCTC:T 6 43613661 TCTC T 6:43581398 0.970917 780 inframe_indel recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of abdomen, lower back and pelvis 0.0016 1.357 0.43 POLH rs9333555 6:43614198:A:G 6 43614198 A G 6:43581935 0.999528 2862 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Xeroderma pigmentosum;Xeroderma pigmentosum, variant type;not specified Ulcerative rectosigmoiditis 0.000616 0.9711 0.2836 Certain disorders involving the immune mechanism 0.0004694 5.87 1.678 POLH rs6941583 6:43614354:A:T 6 43614354 A T 6:43582091 0.999716 13417 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Xeroderma pigmentosum;not specified Nonspesific lymphadenitis 0.000672 -0.4494 0.1321 Unknown and unspecified causes of morbidity 1.735e-05 2.245 0.523 POLH rs151095678 6:43614439:C:A 6 43614439 C A 6:43582176 0.996128 2846 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Xeroderma pigmentosum Disorders of skin appendages 0.000152 0.4066 0.1073 Unspecified haematuria 0.0007134 3.139 0.928 GTPBP2 rs113410952 6:43620254:G:A 6 43620254 G A 6:43587991 0.996364 2749 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Xeroderma pigmentosum Congenital malformations of breast 0.000681 2.891 0.851 Certain disorders involving the immune mechanism 0.0006911 5.497 1.62 MAD2L1BP rs199873709 6:43640298:C:T 6 43640298 C T 6:43608035 0.983743 0.00473069 18 1720 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD related to systemic autoimmune disease 3.69e-05 3.0218 0.7324 Endovascular or surgical operations to intracerebral aneurysms 0.0006068 11.093 3.235 RSPH9 rs16896629 6:43670899:G:A 6 43670899 G A 6:43638636 0.998995 11407 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Ulcerative colitis (strict definition, require KELA, min 2 HDR) 0.000134 0.3759 0.0984 Urticaria 0.0009855 0.892 0.271 SLC35B2 rs3734707 6:44254981:G:C 6 44254981 G C 6:44222718 0.959417 143 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type of accident 0.000814 23.8103 7.1116 AARS2 rs35623954 6:44303133:C:T 6 44303133 C T 6:44270870 0.999475 22778 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined oxidative phosphorylation deficiency;not provided;not specified Other and unspecified epidermal thickening 0.000341 0.634 0.177 Chlocystitis 0.0004181 0.755 0.214 AARS2 rs146924860 6:44304737:G:A 6 44304737 G A 6:44272474 0.884277 376 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Combined oxidative phosphorylation deficiency 8;not provided Benign neoplasm: Duodenum 0.000656 7.7411 2.2719 Hernia of abodminal wall 1.255e-09 8.524 1.404 AARS2 rs202171981 6:44306388:C:T 6 44306388 C T 6:44274125 0.960286 0.00066687 0 245 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Enteropathic arthropathies 5.9e-05 13.5392 3.3707 RUNX2 rs139788537 6:45328715:AAAG:A 6 45328715 AAAG A 6:45296452 0.992648 6920 inframe_indel dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic gout 0.00167 0.6734 0.2142 0.0016 -0.55 0.174 RUNX2 rs11498198 6:45547270:G:A 6 45547270 G A 6:45515007 0.972682 4319 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cleidocranial dysostosis;not provided;not specified Arthrosis 0.000447 -0.1758 0.0501 Corneal scars and opacities 0.000258 19.947 5.459 CLIC5 rs148377014 6:45914339:C:A 6 45914339 C A 6:45882076 0.998594 2822 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Keratoconus 0.00236 1.7895 0.5886 Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 0.0001084 1.798 0.464 CLIC5 rs143360018 6:45941612:G:T 6 45941612 G T 6:45909349 0.992149 0.00293151 10 1067 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other acute skin changes due to ultraviolet radiation 7.17e-05 3.3599 0.8462 Other bacterial diseases 0.00102 3.597 1.095 CLIC5 rs117204561 6:45941627:C:T 6 45941627 C T 6:45909364 0.975192 1141 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other/unspecified enthesopathies of lower limb, excluding foot 0.000778 1.7413 0.5182 CLIC5 rs35822882 6:45949262:G:T 6 45949262 G T 6:45916999 0.992838 3108 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.00045 0.3206 0.0914 0.002558 38.229 12.674 CLIC5 rs723580 6:46079903:T:C 6 46079903 T C 6:46047640 0.994438 20015 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Hypothyroidism and >3 levothyroxin purchases 0.000215 -0.1193 0.0322 Disorders of the thyroid gland 0.0008505 -0.219 0.066 CLIC5 rs41271277 6:46080006:T:A 6 46080006 T A 6:46047743 0.961213 195 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other eating disorders 0.000951 6.2944 1.9047 TDRD6 rs142413497 6:46693742:G:T 6 46693742 G T 6:46661479 0.904227 0.00192984 2 707 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiovascular diseases (excluding rheumatic etc) 4.73e-05 -0.4023 0.0989 PLA2G7 rs1051931 6:46705206:A:G 6 46705206 A G 6:46672943 0.999895 66670 missense_variant both risk factor risk factor no assertion criteria provided no_Criteria Cushing syndrome 0.000382 -0.5429 0.1528 Cushing syndrome 0.001054 -0.302 0.092 PLA2G7 rs1805018 6:46711566:A:G 6 46711566 A G 6:46679303 0.994342 12041 missense_variant both risk factor risk factor no assertion criteria provided no_Criteria Asthma and atopy, susceptibility to Malignant neoplasm of colon 0.000916 0.3402 0.1026 Superficial injury of forearm 0.0003718 2.29 0.643 PLA2G7 rs1805017 6:46716485:C:T 6 46716485 C T 6:46684222 0.996365 70856 missense_variant both not provided not_provided no assertion provided none Other specified cerebrovascular diseases, other cerebrovascular disorders in diseases classified elsewhere 0.00061 0.2062 0.0602 Valvular heart disease including rheumatic fever 0.0005439 0.048 0.014 TNFRSF21 rs200394782 6:47309445:C:A 6 47309445 C A 6:47277181 0.953103 785 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of breast, other/unspecified 0.000164 7.736 2.0523 Calculus of lower urinary tract 0.0004265 154.021 43.717 MUT rs8589 6:49435569:T:C 6 49435569 T C 6:49403282 0.999006 87743 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of the genitourinary system 0.000447 -0.143 0.0407 Stroke, excluding SAH 0.0002259 0.044 0.012 MUT rs1141321 6:49444720:C:T 6 49444720 C T 6:49412433 0.998929 85523 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Protozoal diseases 0.00173 0.3056 0.0975 Impacted cerumen 0.0003031 0.211 0.058 MUT rs2229385 6:49447735:C:T 6 49447735 C T 6:49415448 0.99821 41232 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of ovary (other cancers excluded from controls) 0.000519 -0.3016 0.0869 Other diseases of urinary system 0.0004068 -0.109 0.031 MUT rs148091558 6:49451673:C:T 6 49451673 C T 6:49419386 0.980213 361 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Osteomyelitis 0.00012 4.8463 1.2601 MUT rs115923556 6:49459262:T:C 6 49459262 T C 6:49426975 0.971271 1324 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency;not provided Fracture of shoulder and upper arm 0.000454 -0.645 0.184 Varus deformity, not elsewhere classified 0.0004319 164.752 46.807 RHAG rs16879498 6:49612534:C:T 6 49612534 C T 6:49580247 0.999976 5156 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rh-null, regulator type;Rh-null, regulator type Occlusion and stenosis of arteries, not leading to stroke 0.00135 1.8445 0.5755 Disorders of continuity of bone 0.000614 5.71 1.667 PKHD1 rs9381994 6:51619163:T:C 6 51619163 T C 6:51483961 0.996147 91370 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gastro-oesophageal reflux disease 0.00062 -0.0522 0.0153 Acute nasopharyngitis(common cold) 0.000165 0.099 0.026 PKHD1 rs201812542 6:51619164:G:A 6 51619164 G A 6:51483962 0.96093 143 LC recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Major coronary heart disease event 0.000133 -1.435 0.3755 PKHD1 rs143616240 6:51619279:G:C 6 51619279 G C 6:51484077 0.967913 159 LC recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Infective dermatitis 0.00213 3.7372 1.2169 PKHD1 rs34548196 6:51619428:C:T 6 51619428 C T 6:51484226 0.994629 4960 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not specified Other ill-defined and unspecified causes of mortality 0.000116 1.7332 0.4498 Other ill-defined and unspecified causes of mortality 6.067e-05 38.133 9.509 PKHD1 rs2661488 6:51627068:A:T 6 51627068 A T 6:51491866 0.997693 5570 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not specified Other ill-defined and unspecified causes of mortality 0.000107 1.6516 0.4262 Other ill-defined and unspecified causes of mortality 0.0001099 29.736 7.689 PKHD1 rs4715227 6:51627086:T:C 6 51627086 T C 6:51491884 0.994738 91586 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 0.00038 0.1586 0.0446 Acute nasopharyngitis(common cold) 0.0001237 0.102 0.027 PKHD1 rs76572975 6:51632705:C:A 6 51632705 C A 6:51497503 0.987511 0.0343288 502 12110 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not provided;not specified Dysphagia 5.1e-05 -0.3333 0.0823 0.001273 1.433 0.445 PKHD1 rs139014478 6:51659611:G:T 6 51659611 G T 6:51524409 0.963944 0.00548466 10 2005 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not specified Haemorrhagic and haematological disorders of fetus and newborn 6.45e-06 5.2603 1.1661 Excessive, freguent and irrelgular menstruation 0.0001724 1.701 0.453 PKHD1 rs148932323 6:51746853:C:A 6 51746853 C A 6:51611651 0.994294 1626 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Statin medication 0.00136 0.2355 0.0736 PKHD1 rs146519878 6:51747828:A:G 6 51747828 A G 6:51612626 0.969813 274 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pain in throat and chest 0.000136 -0.8597 0.2253 PKHD1 rs45503297 6:51748201:C:A 6 51748201 C A 6:51612999 0.99594 2477 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not specified Strabismus 0.000668 0.513 0.1508 Gonarthrosis,primary 0.0001041 6.232 1.606 PKHD1 rs142522748 6:51772738:G:T 6 51772738 G T 6:51637536 0.995744 0.0111381 54 4038 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not provided;not specified Cardiac arrhytmias, COPD co-morbidities 4.17e-05 0.232 0.0566 Retinal detachment with retinal break 0.0002956 6.789 1.876 PKHD1 rs150925674 6:51772763:T:C 6 51772763 T C 6:51637561 0.998965 7614 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not provided;not specified Other vitreous opacities 0.000345 1.0107 0.2824 Pericarditis 0.000121 9.736 2.533 PKHD1 rs147222255 6:51791331:C:G 6 51791331 C G 6:51656129 0.989508 836 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Diverticular disease of intestine 0.000206 0.5708 0.1538 PKHD1 rs201881567 6:51883179:A:C 6 51883179 A C 6:51747977 0.988239 750 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not provided Substance use, excluding alcohol 0.000323 1.1094 0.3085 Cutaneous abscess, furuncle and carbuncle 0.0001973 18.092 4.86 PKHD1 rs141360909 6:51887175:G:A 6 51887175 G A 6:51751973 0.987961 855 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other osteochondropathies 0.00205 1.6958 0.5501 PKHD1 rs200179145 6:51903601:A:T 6 51903601 A T 6:51768399 0.993209 1219 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not provided Congenital malformations of uterus and cervix 0.000136 4.6819 1.227 Other/unspecified cytomegaloviral diseases 0.0004045 187.07 52.888 PKHD1 rs142526715 6:51903997:C:T 6 51903997 C T 6:51768795 0.952885 238 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Simple and mucoplurulent chronic bronchitis 0.000105 7.8923 2.0341 PKHD1 rs147487242 6:51912453:G:A 6 51912453 G A 6:51777251 0.999581 16576 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not specified Hernia of abodminal wall, postoperative 0.00033 -0.2911 0.0811 0.001004 -0.211 0.064 PKHD1 rs147933501 6:52017425:G:A 6 52017425 G A 6:51882223 0.971968 622 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormalities of plasma proteins 0.00179 7.9942 2.5592 PKHD1 rs9296669 6:52026025:G:A 6 52026025 G A 6:51890823 0.999121 91477 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Degenerative macular diseases 0.00018 0.1479 0.0395 Coronary angiopasty 0.0006267 0.057 0.017 PKHD1 rs41273726 6:52028309:T:C 6 52028309 T C 6:51893107 0.994416 5785 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not provided;not specified Other and unspecified iron deficiency 0.000397 0.3668 0.1036 0.000664 2.255 0.663 PKHD1 rs62406032 6:52046107:T:C 6 52046107 T C 6:51910905 0.995719 0.0931386 3282 30936 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not specified Ulcerative ileocolitis 6.84e-05 -0.4399 0.1105 Schizophrenia, schizotypal and delusional disorders 0.0001048 0.365 0.094 PKHD1 rs185941281 6:52048551:C:T 6 52048551 C T 6:51913349 0.993718 4561 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of the puerperium, not elsewhere classified 0.00144 1.0198 0.32 Diabetic ketoacidosis 0.0005908 5.281 1.537 PKHD1 rs9370096 6:52050158:G:A 6 52050158 G A 6:51914956 0.997607 91437 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Degenerative macular diseases 0.000542 0.1366 0.0395 Brachial plexus disorders 0.0006001 -0.132 0.038 PKHD1 rs45500692 6:52055687:G:A 6 52055687 G A 6:51920485 0.983556 9333 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive polycystic kidney disease;not specified Dislocation of lens 0.000189 1.5438 0.4135 Other diseases of intestine 8.393e-05 4.129 1.05 PKHD1 rs143867809 6:52055706:C:A 6 52055706 C A 6:51920504 0.878854 133 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Ischaemic heart disease, wide definition 0.000346 -1.2149 0.3395 PKHD1 rs137852949 6:52058349:G:A 6 52058349 G A 6:51923147 0.993788 1788 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertensive heart and/or renal disease 0.000356 0.648 0.1815 PKHD1 rs149781976 6:52058493:C:G 6 52058493 C G 6:51923291 0.981574 312 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ulcer of lower limb, not elsewhere classified 0.000106 3.5006 0.9029 PKHD1 rs199897497 6:52071015:C:T 6 52071015 C T 6:51935813 0.98778 479 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Unspecified lump in breast 0.00115 1.5247 0.4689 PKHD1 rs141790557 6:52082515:T:C 6 52082515 T C 6:51947313 0.986049 260 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of the musculoskeletal system and connective tissue 0.00138 -0.4688 0.1466 IL17F rs763780 6:52236941:T:C 6 52236941 T C 6:52101739 0.99919 0.0980244 3572 32441 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other heart diseases 6.74e-05 -0.056 0.014 Other heart diseases 0.000145 -0.138 0.036 IL17F rs11465553 6:52236960:C:T 6 52236960 C T 6:52101758 0.984235 18504 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Candidiasis, familial, 6;Familial Candidiasis, Dominant Superficial injury of neck 0.000296 0.8794 0.243 Human immunodeficiency virus [HIV] disease 0.001019 2.277 0.693 IL17F rs2397084 6:52237046:T:C 6 52237046 T C 6:52101844 0.996882 23863 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial Candidiasis, Dominant;not specified Cerebral cysts 0.000576 0.425 0.1235 Undescended testicle 0.0009276 3.62 1.093 EFHC1 rs3804506 6:52438493:C:T 6 52438493 C T 6:52303291 0.996223 0.0993282 3572 32920 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Orchitis and epididymitis 9.3e-05 0.3059 0.0783 Secondary uncertain malignant neoplasm 0.0003587 0.545 0.153 EFHC1 rs3804505 6:52438563:G:A 6 52438563 G A 6:52303361 0.997709 0.0904684 2990 30247 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Juvenile myoclonic epilepsy;Myoclonic epilepsy, juvenile 1;not specified Prurigo nodularis 2.07e-05 0.7281 0.171 Disorders related to short gestation and low birth weight, not elsewhere classified 0.0008259 1.513 0.453 EFHC1 rs1570624 6:52454252:G:A 6 52454252 G A 6:52319050 0.998952 0.0392092 552 13853 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy juvenile absence;Juvenile myoclonic epilepsy;Juvenile myoclonic epilepsy;not specified Other diseases of pleura 3.51e-06 0.2543 0.0548 0.000202 1.004 0.27 EFHC1 rs1266787 6:52479101:T:C 6 52479101 T C 6:52343899 0.999875 8270 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy juvenile absence;Juvenile myoclonic epilepsy;Juvenile myoclonic epilepsy;not specified Dementia 0.000584 -0.2471 0.0719 0.000289 0.352 0.097 EFHC1 rs17851770 6:52492273:A:C 6 52492273 A C 6:52357071 0.999173 0.123387 5648 39683 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pleural plaque 6.77e-05 0.288 0.0723 9.622e-05 -0.141 0.036 GSTA3 rs41273858 6:52902401:T:C 6 52902401 T C 6:52767199 0.891563 2244 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lichen simplex chronicus and prurigo 0.000458 1.4449 0.4124 Other external causes of accidental injury 0.0006454 51.802 15.183 ICK rs201964851 6:53013696:AGCAACGGGCTTG:A 6 53013696 AGCAACGGGCTTG A 6:52878494 0.984826 3152 inframe_indel both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ovarian dysfunction 0.000821 1.0425 0.3116 Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 0.0004807 5.576 1.597 ELOVL5 rs41273880 6:53270651:T:C 6 53270651 T C 6:53135449 0.992726 358 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Bronchus and lung (other cancers excluded from controls) 2e-04 17.0307 4.5796 ELOVL5 rs150583340 6:53287885:G:A 6 53287885 G A 6:53152683 0.972879 0.00394134 12 1436 pLoF dominant Benign (likely)Benign no assertion criteria provided no_Criteria Contusion of other and unspecified parts of foot 4.83e-05 2.8128 0.6922 Pneumonitis due to solids and liquids 0.0001285 22.015 5.749 GCLC rs80120302 6:53507525:C:T 6 53507525 C T 6:53372323 0.980969 525 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chondrocostal junction syndrome [Tietze] 0.000833 5.0607 1.5144 DST rs201429821 6:56463608:G:A 6 56463608 G A 6:56328406 0.995524 0.0119601 58 4336 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary retinal dystrophy 1.53e-05 2.807 0.6491 Hereditary retinal dystrophy 1.544e-11 88.402 13.109 DST rs4715630 6:56552484:C:T 6 56552484 C T 6:56417282 0.999087 0.819681 246980 54161 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Contracture of joint 3.75e-05 -0.6439 0.1562 Monoarthritis, not elsewhere classified 5.41e-05 -0.196 0.049 DST rs4715631 6:56552747:T:C 6 56552747 T C 6:56417545 0.996272 57732 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Divergent concomitant strabismus 0.000223 0.2094 0.0567 Divergent concomitant strabismus 0.0001636 0.125 0.033 DST rs138967674 6:56569914:G:T 6 56569914 G T 6:56434712 0.942879 1493 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Foreign body in ear 0.000589 3.8637 1.1243 Von Willebrand disease 0.0003125 195.13 54.132 DST rs186813964 6:56592246:T:C 6 56592246 T C 6:56457044 0.991098 0.00513082 6 1879 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myocardial infarction, strict 5.67e-05 0.5161 0.1282 Other and unspecified disorders of skin and subcutaneous tissue 0.0006793 116.265 34.218 DST rs4712138 6:56598612:T:C 6 56598612 T C 6:56463410 0.996005 80931 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Contracture of joint 0.000492 0.436 0.1251 Noninfective enteritis and colitis 0.0001695 -0.08 0.021 DST rs150191284 6:56615702:T:C 6 56615702 T C 6:56480500 0.999027 5277 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI;Neuropathy, hereditary sensory and autonomic, type VI Temporomandibular joint disorders 0.00015 0.5123 0.1351 Bacterial meningitis 0.002976 6.369 2.144 DST rs112473525 6:56616599:T:C 6 56616599 T C 6:56481397 0.971936 0.00425708 12 1552 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI;Neuropathy, hereditary sensory and autonomic, type VI Secondary uncertain malignant neoplasm (other cancers excluded from controls) 5.12e-05 1.3338 0.3293 Synovial hypertrophy, not elsewhere classified 0.0007243 107.882 31.916 DST rs115983672 6:56617066:G:A 6 56617066 G A 6:56481864 0.993797 383 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of lip, oral cavity and pharynx (other cancers excluded from controls) 0.000738 10.8374 3.2111 DST rs6459166 6:56618003:C:G 6 56618003 C G 6:56482801 0.991673 79598 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Divergent concomitant strabismus 0.00013 -0.1834 0.0479 0.0004101 0.108 0.031 DST rs148856756 6:56618104:G:C 6 56618104 G C 6:56482902 0.966016 182 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Short bones of lower limb 0.000982 21.9015 6.6457 DST rs141573097 6:56618125:A:G 6 56618125 A G 6:56482923 0.950118 1519 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI;Neuropathy, hereditary sensory and autonomic, type VI;not provided Medical observation and evaluation for suspected diseases and conditions 0.000867 0.283 0.085 Follicular cysts of skin and subcutaneous tissue 0.0004287 12.576 3.571 DST rs12209266 6:56618254:T:C 6 56618254 T C 6:56483052 0.972574 2243 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI;not specified Umbilical hernia 0.00048 0.608 0.1741 Aortic aneurysm 0.0008241 10.636 3.18 DST rs45487998 6:56618881:T:G 6 56618881 T G 6:56483679 0.990252 0.000985334 0 362 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Open wound of head 6.96e-05 1.2998 0.3268 DST rs200015992 6:56619238:T:G 6 56619238 T G 6:56484036 0.883712 96 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Patellar tendinitis 0.000259 27.7658 7.6009 DST rs45472691 6:56619985:G:A 6 56619985 G A 6:56484783 0.994915 2362 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI;Neuropathy, hereditary sensory and autonomic, type VI Fracture of lower leg, including ankle 0.000517 0.349 0.1005 Granuloma annulare 0.0008442 99.066 29.679 DST rs35497571 6:56620225:T:C 6 56620225 T C 6:56485023 0.975201 13140 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI;Neuropathy, hereditary sensory and autonomic, type VI Other eating disorders 0.000704 0.5226 0.1543 Problems related to medical facilities and other health care 0.001115 1.847 0.567 DST rs200744603 6:56620315:T:C 6 56620315 T C 6:56485113 0.92323 87 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of vulva 0.000258 39.3892 10.7807 DST rs375521654 6:56620549:G:A 6 56620549 G A 6:56485347 0.984453 0.00301861 2 1107 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crushing injury of wrist and hand 6.91e-05 6.5492 1.6458 DST rs34767818 6:56620698:C:G 6 56620698 C G 6:56485496 0.8861 228 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI;Neuropathy, hereditary sensory and autonomic, type VI Erectile dysfunction 0.000313 4.6781 1.298 Urehtritis and urethral syndrome 0.000552 137.228 39.728 DST rs150656535 6:56631307:G:A 6 56631307 G A 6:56496105 0.958846 127 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of nerves at lower leg level 0.00061 27.3588 7.9832 DST rs200913640 6:56633037:T:G 6 56633037 T G 6:56497835 0.993637 932 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.000949 0.4503 0.1362 DST rs138162782 6:56639273:G:A 6 56639273 G A 6:56504071 0.980154 292 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of lacrimal system 0.00139 1.2528 0.392 DST rs138553142 6:56639604:G:C 6 56639604 G C 6:56504402 0.983675 0.000585212 0 215 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Haemolytic anaemias 8.05e-06 13.98 3.1319 DST rs151271595 6:56640283:G:C 6 56640283 G C 6:56505081 0.839997 0.000430063 0 158 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Contracture of joint 6.07e-05 22.1784 5.531 DST rs1024196 6:56642691:A:G 6 56642691 A G 6:56507489 0.993532 5402 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neuropathy, hereditary sensory and autonomic, type VI Dronedarone medication 0.000763 1.1273 0.3349 Meningitis 0.003076 5.902 1.994 DST rs75671065 6:56642764:G:A 6 56642764 G A 6:56507562 0.965922 4524 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysis bullosa simplex, autosomal recessive 2;Neuropathy, hereditary sensory and autonomic, type VI;Neuropathy, hereditary sensory and autonomic, type VI Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.00125 -0.2646 0.082 0.0002723 18.438 5.065 RAB23 rs1040461 6:57190556:C:T 6 57190556 C T 6:57055354 0.998206 46873 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the skin and subcutaneous tissue 0.000173 -0.0424 0.0113 Benign neoplasm: Skin of ear and external auricular canal 6.883e-05 0.71 0.178 RAB23 rs45479896 6:57196547:A:C 6 57196547 A C 6:57061345 0.943964 4078 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carpenter syndrome;Carpenter syndrome 1;not provided Hypokalaemia 0.000199 0.8519 0.229 Endometriosis of intestine 0.00127 53.051 16.462 PHF3 rs41271581 6:63684165:A:G 6 63684165 A G 6:64394066 0.996873 10888 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Poisoning by drugs, medicaments and biological substances 0.000385 -0.2538 0.0715 Calculus of kidney and ureter 0.0007216 0.965 0.285 EYS rs528919874 6:63721375:TTCTGCATG:T 6 63721375 TTCTGCATG T 6:64431271 0.98815 0.00692456 24 2520 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis pigmentosa 25 Hereditary retinal dystrophy 2.24e-11 6.8872 1.0296 Hereditary retinal dystrophy 3.79e-19 224.21 25.071 EYS rs74636274 6:63778108:T:C 6 63778108 T C 6:64488001 0.939638 1061 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Childhood allergy (age < 16) 0.000802 1.1357 0.3388 PHF3 rs191846522 6:63778167:A:G 6 63778167 A G 6:64488060 0.976043 419 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Atopic dermatitis 0.000294 1.2716 0.3512 EYS rs66462731 6:63788162:T:A 6 63788162 T A 6:64498055 0.999549 0.111604 4740 36262 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immune disease comorbidities 7.75e-05 0.0874 0.0221 Other psoriatic arthropathies 0.001466 0.467 0.147 EYS rs4710457 6:63984461:C:T 6 63984461 C T 6:64694354 0.997731 78888 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of oesophagus 0.000879 0.1485 0.0446 Other disorders of male genital organs 0.0008912 -0.296 0.089 EYS rs188093810 6:64439254:T:C 6 64439254 T C 6:65149147 0.864445 248 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of skin of scalp and neck (other cancers excluded from controls) 0.00164 16.726 5.3118 EYS rs9353806 6:64439292:T:A 6 64439292 T A 6:65149185 0.998801 83015 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Iridocyclitis in diseases classified elsewhere 0.000236 0.443 0.1205 Fracture of lower leg, including ankle 0.0001319 0.067 0.018 EYS rs16895517 6:64590250:G:C 6 64590250 G C 6:65300143 0.99922 27935 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not specified Sacroiliitis, not elsewhere classified 0.000114 0.4892 0.1268 Other anxiety disorders 6.425e-06 0.384 0.085 EYS rs57312007 6:64590623:T:G 6 64590623 T G 6:65300516 0.998205 52081 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Motor disorders 0.000648 -0.5196 0.1523 Anomalies of pupillary function 0.0001117 1.02 0.264 EYS rs201916371 6:64590727:T:G 6 64590727 T G 6:65300620 0.886315 253 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other anxiety disorders 0.00322 1.2033 0.4085 EYS rs147641443 6:64590882:T:A 6 64590882 T A 6:65300775 0.979045 0.00394406 12 1437 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinitis pigmentosa 25;not provided;not specified Other disorders of pigmentation 3.91e-05 2.9845 0.7257 Other disorders of nervous system 0.0001256 23.192 6.048 EYS rs62415826 6:64591318:T:C 6 64591318 T C 6:65301211 0.999562 28107 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not provided;not specified Sacroiliitis, not elsewhere classified 0.000139 0.4813 0.1263 Other anxiety disorders 6.812e-06 0.383 0.085 EYS rs62415827 6:64591324:G:A 6 64591324 G A 6:65301217 0.999027 28047 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not specified Sacroiliitis, not elsewhere classified 0.000129 0.4844 0.1265 Other anxiety disorders 6.492e-06 0.384 0.085 EYS rs62415828 6:64591515:A:G 6 64591515 A G 6:65301408 0.999279 28077 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not specified Sacroiliitis, not elsewhere classified 0.000132 0.4834 0.1265 Other anxiety disorders 6.577e-06 0.384 0.085 EYS rs624851 6:64591611:A:G 6 64591611 A G 6:65301504 0.999756 0.708205 184378 75808 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Urolithiasis 3.1e-05 0.1053 0.0253 Calculus of kidney and ureter 9.233e-05 0.066 0.017 EYS rs17403955 6:64591786:T:C 6 64591786 T C 6:65301679 0.99922 28067 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not specified Sacroiliitis, not elsewhere classified 0.000131 0.4836 0.1265 Other anxiety disorders 6.577e-06 0.384 0.085 EYS rs12663622 6:64591894:G:C 6 64591894 G C 6:65301787 0.999277 28074 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not specified Sacroiliitis, not elsewhere classified 0.000132 0.4835 0.1265 Other anxiety disorders 6.577e-06 0.384 0.085 EYS rs17404123 6:64593207:T:C 6 64593207 T C 6:65303100 0.999214 28067 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not specified Sacroiliitis, not elsewhere classified 0.000132 0.4835 0.1265 Other anxiety disorders 6.73e-06 0.383 0.085 EYS rs9294631 6:64912570:A:G 6 64912570 A G 6:65622463 0.995651 90025 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vascular dementia 0.000365 -0.1977 0.0555 Vascular dementia 0.0008769 -0.138 0.041 EYS rs17411795 6:65295964:T:A 6 65295964 T A 6:66005857 0.997448 73100 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myalgia 0.000498 0.1177 0.0338 0.001576 0.356 0.113 EYS rs9342464 6:65295995:C:T 6 65295995 C T 6:66005888 0.999608 89961 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Reactive arthropathies, FINNGEN 0.00192 -0.1546 0.0498 Other noninfective gastroenteritis and colitis 0.000782 -0.068 0.02 EYS rs61753610 6:65335034:T:C 6 65335034 T C 6:66044927 0.996019 52863 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alcohol related diseases and deaths, all endoints 0.00013 -0.0783 0.0205 Other symptoms and signs involving the digestive system and abdomen 0.001375 -0.222 0.069 EYS rs61753611 6:65344041:T:G 6 65344041 T G 6:66053934 0.977409 1956 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of liver and intrahepatic bile ducts (other cancers excluded from controls) 0.000211 3.0716 0.8289 Peroneal tendinitis 0.0005705 137.277 39.845 EYS rs143994166 6:65402507:A:T 6 65402507 A T 6:66112400 0.973242 0.00574597 12 2099 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Retinal dystrophy;Retinitis pigmentosa 25 Hereditary retinal dystrophy 1.86e-06 4.9012 1.0279 Hereditary retinal dystrophy 1.081e-08 153.741 26.89 EYS rs144935927 6:65402517:T:A 6 65402517 T A 6:66112410 0.939613 60 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Isolated proteinuria 0.00101 21.325 6.4856 EYS rs12193967 6:65495052:G:A 6 65495052 G A 6:66204945 0.997402 63668 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schizophrenia or delusion 0.000575 -0.1017 0.0295 AV-block 0.000346 0.205 0.057 LMBRD1 rs12648 6:69697573:A:T 6 69697573 A T 6:70407465 0.999534 83885 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.00145 0.0442 0.0139 Acute epiglottitis 0.0005368 0.434 0.126 COL9A1 rs6910140 6:70234554:T:C 6 70234554 T C 6:70944257 0.993871 2368 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant;Stickler Syndrome, Recessive;not provided;not specified GI-bleeding 0.000834 0.5105 0.1528 Malignant neoplasm of kidney, except renal pelvis 0.0003266 17.122 4.765 COL9A1 rs1135056 6:70252130:T:C 6 70252130 T C 6:70961833 0.994949 88238 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intussusception 0.00128 0.3715 0.1153 Intussusception 3.712e-05 0.467 0.113 COL9A1 rs77706858 6:70263290:T:C 6 70263290 T C 6:70972993 0.970857 3530 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant;Stickler Syndrome, Recessive;not specified severe traumatic brain injury, does not include concussion 0.00192 0.4761 0.1535 Myocarditis 7.739e-05 31.849 8.058 COL9A1 rs592121 6:70274733:A:G 6 70274733 A G 6:70984436 0.998492 81849 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of iron metabolism 0.000115 0.55 0.1426 Injury of muscle and tendon at lower leg level 4.418e-05 -0.159 0.039 COL9A1 rs151129325 6:70281012:C:T 6 70281012 C T 6:70990715 0.988217 290 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal epilepsy 0.000486 5.5084 1.5791 RIMS1 rs200422266 6:72182930:G:A 6 72182930 G A 6:72892633 0.991678 5287 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Dominant Malignant neoplasm of breast (other cancers excluded from controls) 0.0012 -0.2759 0.0852 Retinal detachment with retinal break 0.0001365 4.766 1.249 RIMS1 rs199629596 6:72250382:A:G 6 72250382 A G 6:72960085 0.99709 419 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary ovarian failure 0.000207 9.6994 2.6141 RIMS1 rs41265501 6:72274420:C:T 6 72274420 C T 6:72984123 0.969967 0.00877819 46 3179 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Dominant;not specified Guillain-Barre syndrome 7.62e-05 2.8917 0.731 Obesity related asthma 0.001906 3.679 1.185 MB21D1 rs147035222 6:73452132:G:C 6 73452132 G C 6:74161855 0.945202 774 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erosion and ectropion of cervix uteri 0.000933 3.1199 0.9426 MTO1 rs201279883 6:73462030:G:C 6 73462030 G C 6:74171753 0.994934 2482 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Combined oxidative phosphorylation deficiency 10 Paralytic strabismus 0.000312 1.3065 0.3624 Papilloedema, unspecified 0.001005 85.705 26.056 MTO1 rs145043138 6:73479828:A:G 6 73479828 A G 6:74189551 0.99411 938 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Combined oxidative phosphorylation deficiency 10;not provided Other dorsopathies, not elsewhere classified 0.00101 -0.315 0.0958 Sequelae of injuries of head 0.001332 66.057 20.585 MTO1 rs200583827 6:73482103:C:T 6 73482103 C T 6:74191826 0.938666 239 pLoF recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Kidney 0.000102 11.7424 3.0226 MTO1 rs201544686 6:73482209:G:A 6 73482209 G A 6:74191932 0.988077 232 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertension 0.000155 0.7838 0.2072 MTO1 rs139608228 6:73482532:G:A 6 73482532 G A 6:74192255 0.985017 166 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Scar conditions and fibrosis of skin 0.000345 9.8024 2.7388 Acquired absence of organs, not elsewhere classified 0.0003601 205.313 57.548 SLC17A5 rs200632199 6:73600406:A:G 6 73600406 A G 6:74310129 0.907141 228 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Iridocyclitis 0.000866 2.2744 0.6828 SLC17A5 rs142553916 6:73621883:G:A 6 73621883 G A 6:74331606 0.979369 165 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Other inflammation of eyelid 0.000609 5.2383 1.5284 Acquired absence of organs, not elsewhere classified 0.0003601 205.313 57.548 SLC17A5 rs16883930 6:73621896:C:T 6 73621896 C T 6:74331619 0.997072 0.0106019 58 3837 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Salla disease;not specified Chronic gastritis 2.86e-06 0.5345 0.1142 Intestinal malabsorbtion 0.0008027 11.818 3.526 SLC17A5 rs80338794 6:73644583:G:A 6 73644583 G A 6:74354306 0.993324 1349 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transport accidents 0.000404 3.74 1.0573 CD109 rs148575660 6:73736491:A:G 6 73736491 A G 6:74446214 0.996806 6321 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of heart and great arteries 0.000671 0.4973 0.1462 Other ILD-related CVD-co-morbidities 7.205e-05 2.789 0.703 CD109 rs113690012 6:73766068:C:G 6 73766068 C G 6:74475791 0.981755 472 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tuberculosis 0.000996 2.6882 0.8167 Cushing syndrome 0.0001802 382.194 102.046 COL12A1 rs970547 6:75087586:C:T 6 75087586 C T 6:75797302 0.970505 79279 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Speech and linguistic disorders 0.000293 0.1889 0.0522 Obesity related asthma 8.618e-05 0.077 0.02 COL12A1 rs41266761 6:75087675:C:T 6 75087675 C T 6:75797391 0.946532 1245 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2;not provided;not specified Focal brain injury 0.00105 1.6218 0.4948 Any mental disorder 4.868e-06 3.711 0.812 COL12A1 rs199702595 6:75090220:G:A 6 75090220 G A 6:75799936 0.87902 410 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Haemmorrhoids and perianal venous thrombosis 0.000369 1.6207 0.4551 COL12A1 rs148065232 6:75095175:C:T 6 75095175 C T 6:75804891 0.968537 8732 pLoF dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of penis 0.000608 -0.5313 0.155 3.845e-05 0.553 0.134 COL12A1 rs34369939 6:75105234:A:G 6 75105234 A G 6:75814950 0.980041 8084 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2;not provided;not specified Vitreous bleeding (caused by prolif. dmrp when together with H36.03*) 0.000834 0.521 0.1559 Other headache syndromes 0.0002253 0.98 0.266 COL12A1 rs201988277 6:75113301:G:A 6 75113301 G A 6:75823017 0.943346 355 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Infections with a predominantly sexual mode of transmission 0.00029 1.2997 0.3587 COL12A1 rs117038107 6:75125144:G:A 6 75125144 G A 6:75834860 0.979946 6223 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2 Viral pneumonia (unknown virus, not influenza) 0.000408 1.0444 0.2955 Bronchiectasis 0.0008537 5.033 1.509 COL12A1 rs35523808 6:75125255:T:A 6 75125255 T A 6:75834971 0.95514 19917 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2;not specified Peritonsillar abscess 0.000134 -0.2169 0.0568 Keratoconus 0.000118 2.975 0.773 COL12A1 rs200029869 6:75133937:A:G 6 75133937 A G 6:75843653 0.999003 0.00215304 2 789 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intussusception 8.61e-05 6.2673 1.596 COL12A1 rs240736 6:75138465:A:G 6 75138465 A G 6:75848181 0.989752 65740 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic laryngitis and laryngotracheitis 0.000182 0.1588 0.0424 Chronic laryngitis and laryngotracheitis 4.782e-05 0.228 0.056 COL12A1 rs200520924 6:75143335:T:G 6 75143335 T G 6:75853051 0.926767 0.000307577 0 113 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory bowel disease, strict (require KELA) 7.22e-05 4.1001 1.0331 COL12A1 rs181257320 6:75151862:C:T 6 75151862 C T 6:75861578 0.943898 1797 LC dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Any mental disorder 0.000523 0.2321 0.0669 Injury of nerves at wrist and hand level 0.0007397 97.481 28.888 COL12A1 rs139332405 6:75165525:C:T 6 75165525 C T 6:75875241 0.997074 4536 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bethlem myopathy 2;Ullrich congenital muscular dystrophy 2 Appendicitis, broad definition 0.000351 -0.2028 0.0567 Procreative management 0.0004007 2.705 0.764 SENP6 rs34451237 6:75621592:A:G 6 75621592 A G 6:76331308 0.995696 415 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chronic hepatitis NAS 0.00286 6.6792 2.2395 MYO6 rs145564837 6:75848478:C:T 6 75848478 C T 6:76558195 0.995771 0.0028063 10 1021 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;not provided;not specified Bacterial pneumonia, not elsewhere classified 2.2e-05 0.8434 0.1988 Other and unspecified injuries of shoulder and upper arm 0.001471 60.956 19.167 MYO6 rs199798449 6:75848483:G:A 6 75848483 G A 6:76558200 0.997922 817 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;not specified Unspecified dementia 0.00118 1.6208 0.4995 Benign neoplasm: Cerebral meninges (other cancers excluded from controls) 0.001435 59.113 18.546 MYO6 rs55662069 6:75886870:C:T 6 75886870 C T 6:76596587 0.932693 225 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behabioural disorders of puerperum, not classified elsewhere (more controls excluded) 0.00165 16.7181 5.3126 MYO6 rs141845119 6:75890234:C:T 6 75890234 C T 6:76599951 0.983186 0.00213671 6 779 missense_variant both Likely benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Nonsyndromic hearing loss and deafness;not provided;not specified Bacterial pneumonia, not elsewhere classified 3.44e-05 0.9714 0.2345 1.697e-05 2.131 0.495 MYO6 rs41269323 6:75914821:G:A 6 75914821 G A 6:76624538 0.964787 3392 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;not specified Malignant neoplasm of corpus uteri (other cancers excluded from controls) 0.000886 0.8769 0.2638 Other, unspecified and serous retinal detachments 0.0002121 20.84 5.626 MYO6 rs146461956 6:75914978:A:G 6 75914978 A G 6:76624695 0.999436 8129 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;not specified Other and unspecified epidermal thickening 0.000343 1.1039 0.3083 Angina pectoris 0.0002039 0.747 0.201 IMPG1 rs118155926 6:75947413:G:A 6 75947413 G A 6:76657130 0.987143 14443 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sacroiliitis, not elsewhere classified 0.000345 0.641 0.1791 Diseases of the skin and subcutaneous tissue 0.001762 -0.231 0.074 IMPG1 rs140590110 6:76042021:C:T 6 76042021 C T 6:76751738 0.951874 233 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of corpus uteri 0.000632 4.963 1.4521 LCA5 rs1875845 6:79487131:C:T 6 79487131 C T 6:80196848 0.998884 70869 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other/unspecified soft tissue disorders related to use, overuse and pressure 0.000751 -0.3152 0.0935 Carcinoma in situ of skin of other and unspecified parts of face 0.0003704 0.319 0.09 LCA5 rs139142572 6:79492604:C:T 6 79492604 C T 6:80202321 0.998189 770 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic pancreatitis 0.00165 1.4309 0.4546 LCA5 rs34068461 6:79518818:T:G 6 79518818 T G 6:80228535 0.998373 0.144572 7664 45450 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other bursitis of hip 9.98e-05 0.5799 0.149 Other disorders of patella 0.0003833 0.243 0.068 LCA5 rs2655655 6:79518824:A:G 6 79518824 A G 6:80228541 0.995788 58450 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Degeneration of the brain due to alcohol 0.000138 -0.436 0.1144 Degeneration of nervous system due to alcohol 0.0001288 -0.256 0.067 ELOVL4 rs3812153 6:79916658:T:C 6 79916658 T C 6:80626375 0.998621 37093 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary hypertension 0.000204 0.2719 0.0732 Prurigo nodularis 0.0004506 1.229 0.35 ELOVL4 rs148919174 6:79916739:C:G 6 79916739 C G 6:80626456 0.994878 9462 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Stargardt Disease, Dominant;not provided;not specified Other diseases of oesophagus 0.00129 0.4149 0.1289 0.000577 3.566 1.036 ELOVL4 rs148594713 6:79916753:A:G 6 79916753 A G 6:80626470 0.992858 7035 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Stargardt Disease, Dominant;not specified Injuries to the ankle and foot 0.00194 -0.1696 0.0547 Other/unspecified enthesopathies, not elsewhere classified 0.0003613 4.09 1.147 BCKDHB rs386834233 6:80201023:G:A 6 80201023 G A 6:80910740 0.997432 0.00232452 4 850 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maple syrup urine disease;Maple syrup urine disease type 1B;not provided Severe non-proliferative background diabetic retinopathy 6.15e-05 3.9268 0.98 Type 1 diabetes with peripheral circulatory complications 0.001556 46.596 14.727 PGM3 rs143654268 6:83169251:G:T 6 83169251 G T 6:83878970 0.985654 0.000903677 0 332 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Postprocedural disorders of nervous system 7.89e-05 4.2826 1.0848 PGM3 rs473267 6:83170448:C:T 6 83170448 C T 6:83880167 0.998677 70871 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of skin of lower limb, including hip 0.000278 0.539 0.1483 Pain in throat and chest 0.001931 0.051 0.017 PGM3 rs201593125 6:83171948:G:T 6 83171948 G T 6:83881667 0.988059 183 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormal findings of blood chemistry 0.000651 11.3848 3.3392 PGM3 rs73749738 6:83191204:A:T 6 83191204 A T 6:83900923 0.981213 184 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility, cervigal, vaginal, other or unspecified origin 0.000829 1.8261 0.5463 TBX18 rs172562 6:84764040:C:T 6 84764040 C T 6:85473758 0.996727 0.505928 94384 91488 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypermetropia 9.04e-05 -0.2335 0.0596 0.0004284 -0.09 0.026 NT5E rs200369370 6:85467177:C:G 6 85467177 C G 6:86176895 0.994123 2101 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Drug-induced hypoglycaemia without coma 0.000158 3.3351 0.8826 Preterm labour and delivery 0.000399 5.701 1.61 NT5E rs41271617 6:85485315:G:A 6 85485315 G A 6:86195033 0.998125 759 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Small fibre neuropathy 0.000633 5.1597 1.51 SNX14 rs113111730 6:85572372:C:A 6 85572372 C A 6:86282090 0.997538 0.00120037 2 439 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of iron metabolism 9.51e-05 12.0302 3.0824 ZNF292 rs11753862 6:87258353:T:C 6 87258353 T C 6:87968071 0.99493 0.00910754 56 3290 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter All influenza 2.26e-06 0.7133 0.1508 Viral pneumonia (unknown virus, not influenza) 0.0003762 16.556 4.656 ZNF292 rs61747660 6:87260915:G:A 6 87260915 G A 6:87970633 0.997869 3855 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bullous disorders 0.000488 1.1202 0.3212 Nontoxic single thyroid nodule 0.003069 6.097 2.059 SLC35A1 rs145006535 6:87477478:A:G 6 87477478 A G 6:88187196 0.999486 1957 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;not provided Endometriosis of rectovaginal septum and vagina 0.00112 0.9716 0.2982 Colectomy operation 0.0001181 26.904 6.988 RARS2 rs3757370 6:87521508:T:C 6 87521508 T C 6:88231226 0.987466 23531 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pontoneocerebellar hypoplasia;not provided;not specified Benign neoplasm: Caecum (other cancers excluded from controls) 0.000522 0.3827 0.1103 Benign mammary dysplasia 0.0006722 0.613 0.18 RARS2 rs17850652 6:87529548:T:C 6 87529548 T C 6:88239266 0.999791 33681 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pontoneocerebellar hypoplasia;not provided;not specified Medical abortion 0.000319 0.1014 0.0282 Benign neoplasm: Colon, unspecified (other cancers excluded from controls) 5.186e-05 0.437 0.108 RARS2 rs139721632 6:87529602:C:G 6 87529602 C G 6:88239320 0.973564 702 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pontocerebellar hypoplasia type 6;Pontoneocerebellar hypoplasia;not provided Benign neoplasm: Skin of ear and external auricular canal 0.00113 2.9953 0.9197 Other/unspecified dorsalgia 0.0006671 11.198 3.291 RARS2 rs145297855 6:87529647:C:T 6 87529647 C T 6:88239365 0.876483 485 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Additional codes for the location of defect, injury or illness 0.00194 4.2271 1.3638 RARS2 rs35862137 6:87530852:C:T 6 87530852 C T 6:88240570 0.993139 17729 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pontoneocerebellar hypoplasia;not provided;not specified Benign neoplasm: Colon, unspecified 0.000267 -0.2426 0.0665 Other diseases caused by chlamydiae 0.003165 3.219 1.091 RARS2 rs138360045 6:87569549:T:G 6 87569549 T G 6:88279267 0.964376 256 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autonomic disorders 0.000664 11.4022 3.3494 GABRR2 rs61739705 6:89257770:C:T 6 89257770 C T 6:89967489 0.949667 560 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other encephalitis 0.000611 5.2869 1.5428 GABRR2 rs117866541 6:89264443:T:C 6 89264443 T C 6:89974162 0.947157 3433 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectropion of eyelid 0.000415 1.5764 0.4465 Presence of cardiac and vascular implants and grafts 0.0004872 3.123 0.895 MDN1 rs34750131 6:89645070:G:A 6 89645070 G A 6:90354789 0.994509 3841 missense_variant unknown not provided not_provided no assertion provided none not provided Type 2 diabetes with other specified/multiple/unspecified complications 0.00022 -0.2309 0.0625 Carcinoma in situ of skin (other cancers excluded from controls) 0.001693 7.356 2.343 MDN1 rs16882046 6:89664564:A:G 6 89664564 A G 6:90374283 0.995728 0.0275758 332 9799 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other infectious diseases 6.72e-05 0.5826 0.1462 Coronary revascularization (ANGIO or CABG) 0.0001853 0.891 0.238 MDN1 rs41273327 6:89674555:T:C 6 89674555 T C 6:90384274 0.995725 0.0275649 324 9803 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other infectious diseases 6.62e-05 0.5833 0.1462 Burn and corrosion of head and neck 0.0003705 6.876 1.931 MDN1 rs148728196 6:89695852:T:G 6 89695852 T G 6:90405571 0.976838 3189 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other localized connective tissue disorders 0.00055 2.3685 0.6855 Abnormalities of heart beat 0.0002231 4.273 1.158 BACH2 rs143586122 6:89951523:C:T 6 89951523 C T 6:90661242 0.985583 1385 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursal cyst 0.00106 3.7839 1.1554 NDUFAF4 rs201754378 6:96891141:A:T 6 96891141 A T 6:97339017 0.99299 0.012646 40 4606 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mitochondrial complex I deficiency;not specified Special screening examination for infectious and parasitic diseases 8.05e-05 0.3866 0.0981 Abnormalities of forces of labour 0.001703 3.673 1.171 FBXL4 rs754570800 6:98905502:G:A 6 98905502 G A 6:99353378 0.828239 109 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Anxiety disorders 0.000262 1.562 0.4279 FBXL4 rs201858974 6:98917705:C:G 6 98917705 C G 6:99365581 0.994604 0.000977169 2 357 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for specific procedures and health care 1.99e-05 0.8186 0.1919 FBXL4 rs189230796 6:98926654:A:C 6 98926654 A C 6:99374530 0.969484 238 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Urehtritis and urethral syndrome 0.000163 11.2171 2.9749 FBXL4 rs199983343 6:98926858:G:T 6 98926858 G T 6:99374734 0.987675 391 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Bipolar affective disorders 0.000403 1.3004 0.3675 FBXL4 rs34316889 6:98926884:A:T 6 98926884 A T 6:99374760 0.991984 4555 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);not provided;not specified Isolated proteinuria 0.00012 1.5901 0.4134 COPD, hospital admissions 0.001347 2.606 0.813 FBXL4 rs201901274 6:98926885:T:C 6 98926885 T C 6:99374761 0.921355 294 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypertension 0.00117 -0.5746 0.1771 FBXL4 rs148934429 6:98926898:T:C 6 98926898 T C 6:99374774 0.948406 0.000748527 2 273 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Heart failure,strict 2.12e-05 1.4024 0.3298 COQ3 rs138873880 6:99376065:C:T 6 99376065 C T 6:99823941 0.985068 1457 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of spleen 0.000244 5.0478 1.3761 Behavioural disorders 0.0004558 154.413 44.049 USP45 rs554927779 6:99468543:CT:C 6 99468543 CT C 6:99916419 0.983092 469 pLoF unknown not provided not_provided no assertion provided none Asthma, unspecified (mode) 0.000231 0.9567 0.2598 USP45 rs17850034 6:99482751:A:G 6 99482751 A G 6:99930627 0.998545 1586 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pleural plaque 0.002 1.0962 0.3547 Immunodeficiency with predominantly antibody defects 0.0008566 90.363 27.105 SIM1 rs3734355 6:100420845:G:A 6 100420845 G A 6:100868721 0.993916 53464 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn's disease of large intestine 0.000186 0.2878 0.077 0.0003934 0.221 0.062 SIM1 rs3734354 6:100420903:G:T 6 100420903 G T 6:100868779 0.993945 53467 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn's disease of large intestine 0.000187 0.2878 0.077 0.0003912 0.221 0.062 SIM1 rs138546433 6:100449665:A:G 6 100449665 A G 6:100897541 0.995305 3600 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oligomenorrhoea 0.000126 1.4309 0.3733 Glaucoma 0.0005239 2.402 0.693 GRIK2 rs2235076 6:102068385:G:A 6 102068385 G A 6:102516260 0.961478 6913 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Dislocation, sprain and strain of joints and ligaments of lumbar spine and pelvis 0.00162 1.1258 0.3572 Nonorganic sleeping disorders (more controls excluded) 0.0002662 4.497 1.233 HACE1 rs34365906 6:104785198:T:C 6 104785198 T C 6:105233073 0.944658 934 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conductive hearing loss, unspecified 0.000737 1.7375 0.5148 Oedema, not elsewhere classified 0.0002254 33.59 9.106 PRDM1 rs2185379 6:106088378:G:A 6 106088378 G A 6:106536253 0.992957 7370 missense_variant unknown not provided not_provided no assertion provided none not specified Lesion of plantar nerve 0.000613 0.6066 0.1771 Other specified/unspecified disorders of synovium and tendon +Other specified/unspecified bursopathies 0.0003028 5.491 1.52 PRDM1 rs811925 6:106099497:C:G 6 106099497 C G 6:106547372 0.994846 64711 missense_variant unknown not provided not_provided no assertion provided none Symptoms and signs concerning food and fluid intake 0.00109 0.1736 0.0532 Specific developmental disorder of motor function 0.000561 0.687 0.199 PRDM1 rs17066588 6:106105017:G:C 6 106105017 G C 6:106552892 0.915739 144 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pleural plaque 0.00181 5.1467 1.6498 Chronic mastoiditis 0.0007956 102.593 30.585 PRDM1 rs143040512 6:106105221:G:A 6 106105221 G A 6:106553096 0.991295 0.00864209 32 3143 missense_variant unknown not provided not_provided no assertion provided none not specified KELA_REIMBURSEMENT_202 9.04e-05 0.365 0.0932 Adult respiratory distress syndrome 0.001351 62.325 19.447 PRDM1 rs141465160 6:106105508:C:T 6 106105508 C T 6:106553383 0.983927 6254 missense_variant unknown not provided not_provided no assertion provided none not specified Use of antiglaucoma preparations and miotics 0.000223 0.6638 0.1798 Venous complications and haemorrhoids in pregnancy 0.0003424 17.451 4.873 RTN4IP1 rs150345358 6:106628892:G:T 6 106628892 G T 6:107076767 0.987164 0.0154142 64 5599 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Convergence insufficiency and excess 7.67e-05 2.3146 0.5853 Injuries to the shoulder and upper arm 0.0006747 1.382 0.407 PDSS2 rs35555197 6:107245583:C:T 6 107245583 C T 6:107566787 0.986322 803 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Portal vein thrombosis 0.00149 6.0061 1.8906 PDSS2 rs3734676 6:107459275:C:G 6 107459275 C G 6:107780479 0.999649 7760 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coenzyme Q10 deficiency, primary;not provided;not specified Other pleural conditions 0.000617 0.5798 0.1693 Congenital malformations of great arteries 0.001951 7.114 2.297 PDSS2 rs3734675 6:107459279:A:G 6 107459279 A G 6:107780483 0.99965 7760 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coenzyme Q10 deficiency, primary;not provided;not specified Other pleural conditions 0.000617 0.5798 0.1693 Congenital malformations of great arteries 0.001951 7.114 2.297 SOBP rs201319446 6:107634165:C:T 6 107634165 C T 6:107955369 0.897733 0.000508999 0 187 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonorganic sleeping disorders 6.66e-05 4.0312 1.0108 SOBP rs146747167 6:107634459:A:G 6 107634459 A G 6:107955663 0.959694 413 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Flat foot [pes planus] (acquired) 0.000741 2.9722 0.8809 Tobacco use 0.0005191 220.471 63.523 SOBP rs368271940 6:107634654:C:A 6 107634654 C A 6:107955858 0.833927 127 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary open-angle glaucoma, strict 7e-04 3.1501 0.9294 SCML4 rs200680801 6:107707990:G:A 6 107707990 G A 6:108029194 0.956124 385 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Other and unspecified parts of small intestine 0.000882 6.9071 2.0769 SEC63 6:107883115:ACTT:A 6 107883115 ACTT A 6:108204319 0.894928 0.0133374 90 4810 inframe_indel dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Pregnancy examination and test 8.51e-05 0.4382 0.1115 Generalized anxiety disorder 0.0001109 5.277 1.365 SEC63 rs17854547 6:107893490:C:T 6 107893490 C T 6:108214694 0.965916 18968 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polycystic liver disease 1 Erythema nodosum 0.000116 0.6994 0.1814 Other disorders starting during childhood or adolecense 0.0007184 1.796 0.531 FOXO3 rs111556510 6:108561627:C:T 6 108561627 C T 6:108882830 0.993075 12798 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of brain, other and unspecified 0.000344 1.4256 0.3983 Melanocytic naevi of eyelid, including canthus 0.002174 7.477 2.439 CD164 rs62436104 6:109368870:C:T 6 109368870 C T 6:109690073 0.985594 0.00552549 12 2018 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Primary coxarthrosis, bilateral 3.01e-05 0.7823 0.1875 Campylobacter enteritis 0.001956 47.785 15.43 CD164 rs145357332 6:109379644:T:C 6 109379644 T C 6:109700847 0.985647 1428 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypertension, essential 0.000559 -0.2981 0.0864 MICAL1 rs41288558 6:109447365:G:T 6 109447365 G T 6:109768568 0.995268 10534 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of continuity of bone 0.000412 -0.5378 0.1523 Ovarian cyst 4.515e-05 0.856 0.21 ZBTB24 rs142830104 6:109466257:A:G 6 109466257 A G 6:109787460 0.992315 317 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other symptoms and signs involving the nervous and musculoskeletal systems 0.000708 1.2997 0.3838 ZBTB24 rs61731736 6:109466273:C:T 6 109466273 C T 6:109787476 0.993099 391 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Certain zoonotic bacterial diseases 0.000593 7.2552 2.1122 ZBTB24 rs778110573 6:109466279:C:T 6 109466279 C T 6:109787482 0.954373 188 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecidied mood [affective] disorders 0.000281 6.211 1.7099 ZBTB24 rs2232448 6:109466393:C:T 6 109466393 C T 6:109787596 0.994594 3343 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Coxarthrosis, primary, with hip surgery 0.000564 0.3722 0.1079 Postpartum care and examination 0.0006159 4.943 1.443 ZBTB24 rs147441359 6:109481881:C:T 6 109481881 C T 6:109803084 0.976115 948 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Immunodeficiency-centromeric instability-facial anomalies syndrome 2;Kabuki syndrome 1;not specified Fracture of lower leg, including ankle 0.000222 0.6286 0.1702 Follow-up examination after treatment for conditions other than malignant neoplasms 0.0002022 4.021 1.082 FIG4 rs121908287 6:109715133:T:C 6 109715133 T C 6:110036336 0.945061 136 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Obsessive-compulsive disorder 0.000498 9.0047 2.5862 FIG4 rs551339249 6:109727169:C:T 6 109727169 C T 6:110048372 0.938678 132 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Systemic sclerosis 0.000492 12.9401 3.7128 FIG4 rs2295837 6:109743725:A:T 6 109743725 A T 6:110064928 0.999113 0.0666897 1780 22721 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis type 11;Charcot-Marie-Tooth disease type 4;Charcot-Marie-Tooth disease, type 4J;not specified Other bursal cyst 4.67e-05 1.0136 0.249 Viral pneumonia (unknown virus, not influenza) 1.301e-05 2.141 0.491 FIG4 rs9885672 6:109786314:T:C 6 109786314 T C 6:110107517 0.9931 62135 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes with coma 0.000564 -0.1451 0.0421 Femoral hernia, unilateral 0.0002442 0.53 0.144 REV3L rs199778150 6:111367606:G:T 6 111367606 G T 6:111688809 0.995988 379 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemangioma and lymphangioma, any site 0.00042 3.152 0.8936 REV3L rs17539692 6:111367744:T:A 6 111367744 T A 6:111688947 0.994968 1029 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Calculus of kidney and ureter 0.000324 0.8341 0.232 REV3L rs141825447 6:111374351:T:C 6 111374351 T C 6:111695554 0.984581 570 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (undefined) 0.000373 5.3812 1.5121 REV3L rs144404854 6:111375000:T:C 6 111375000 T C 6:111696203 0.963133 286 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other obstetric trauma 0.00107 4.4822 1.3697 REV3L rs145125814 6:111376485:A:C 6 111376485 A C 6:111697688 0.998299 0.0131986 80 4769 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diabetes, wide definition 3.36e-05 -0.2019 0.0487 Parapsoriasis 0.0002396 21.008 5.719 TRAF3IP2 rs139767840 6:111575660:T:C 6 111575660 T C 6:111896863 0.99979 0.00087918 0 323 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Shoulder lesions 3.71e-05 0.9776 0.237 TRAF3IP2 rs1043730 6:111580250:G:T 6 111580250 G T 6:111901453 0.999512 49624 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sensorineural hearing loss 0.000461 -0.0652 0.0186 Sensorineural hearing loss 0.0003977 -0.038 0.011 TRAF3IP2 rs139282334 6:111591438:G:T 6 111591438 G T 6:111912641 0.957515 0.0024715 8 900 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Candidiasis, familial, 8 Bullous pemphigoid 1.25e-05 9.3289 2.1354 Benign neoplasm: Vulva 0.0005127 142.953 41.149 TRAF3IP2 rs13190932 6:111591867:G:A 6 111591867 G A 6:111913070 0.999473 0.0626858 1486 21544 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Psoriasis 1.77e-05 0.2255 0.0525 Multiple delivery 0.0006348 1.28 0.375 TRAF3IP2 rs33980500 6:111592059:C:T 6 111592059 C T 6:111913262 0.998546 0.0722397 1968 24572 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psoriasis susceptibility 13;not specified Psoriasis 1.86e-06 0.2354 0.0494 Diseases of middle ear and mastoid 0.0006533 0.251 0.074 FYN rs28763975 6:111661835:G:C 6 111661835 G C 6:111983038 0.908828 673 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of knee 0.00182 0.5595 0.1794 WISP3 rs1230345 6:112061110:G:T 6 112061110 G T 6:112382313 0.999136 63384 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Loose body in joint 0.00251 0.3119 0.1032 Papilloedema, unspecified 0.000292 0.694 0.191 LAMA4 rs1050349 6:112136181:G:C 6 112136181 G C 6:112457383 0.998829 55521 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments at neck level 0.000383 -0.1606 0.0452 Cardiomyopathy, Hypertrophic obstructive 0.002906 0.552 0.185 LAMA4 rs2032567 6:112136188:C:T 6 112136188 C T 6:112457390 0.999837 70748 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cellulitis 0.00043 0.119 0.0338 Cellulitis 0.0006223 0.072 0.021 LAMA4 rs374159760 6:112136257:G:C 6 112136257 G C 6:112457459 0.916068 125 LC dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of synovium and tendon in diseases classified elsewhere 0.000199 21.8186 5.8637 LAMA4 rs41289902 6:112139163:C:T 6 112139163 C T 6:112460365 0.986814 7884 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Dilated cardiomyopathy 1JJ;not specified Anomalies of pupillary function 0.00028 1.5458 0.4255 Anomalies of pupillary function 2.266e-05 18.319 4.324 LAMA4 rs183262122 6:112139808:C:A 6 112139808 C A 6:112461010 0.999815 1275 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of kidney, except renal pelvis 0.000127 1.8919 0.4936 LAMA4 rs180931319 6:112142172:G:C 6 112142172 G C 6:112463374 0.95777 729 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary familial hypertrophic cardiomyopathy;not provided Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.000122 7.9927 2.08 Other peripheral vascular diseases 1.863e-05 55.734 13.02 LAMA4 rs3734286 6:112150486:G:C 6 112150486 G C 6:112471688 0.997756 55959 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments at neck level 0.000121 -0.1738 0.0452 Dronedarone medication 0.0001778 0.599 0.16 LAMA4 rs138153075 6:112165195:G:A 6 112165195 G A 6:112486397 0.995351 964 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1JJ;not provided;not specified Placenta praevia 0.000646 2.9136 0.8541 Acute appendicitis, with complications 0.004868 20.642 7.331 LAMA4 rs1050348 6:112172670:A:G 6 112172670 A G 6:112493872 0.997243 89687 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified injuries of abdomen, lower back and pelvis 0.000322 0.4729 0.1315 Sacroiliitis, not elsewhere classified 0.0002313 -0.19 0.052 LAMA4 rs11757455 6:112201651:G:A 6 112201651 G A 6:112522852 0.982227 15101 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Hydrocele 0.000202 -0.3016 0.0811 Diseases of arteries, arterioles and capillaries 0.0001147 0.563 0.146 COL10A1 rs2228547 6:116120483:C:G 6 116120483 C G 6:116441646 0.994241 47056 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of the skin and subcutaneous tissue 4e-04 0.04 0.0113 Other specified/unspecified systemic involvement of connective tissue 0.0005978 0.494 0.144 COL10A1 rs148785195 6:116121523:C:T 6 116121523 C T 6:116442686 0.992315 966 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Metaphyseal chondrodysplasia;not provided Secondary polycythaemia 0.000604 5.323 1.552 Other inflammation of vagina/vulva 0.001208 67.759 20.932 COL10A1 rs145214720 6:116121860:C:T 6 116121860 C T 6:116443023 0.935692 80 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mouth breathing 0.000197 3.1526 0.8469 COL10A1 rs142411445 6:116125343:A:T 6 116125343 A T 6:116446506 0.960309 930 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Placenta praevia 0.000293 2.9947 0.8269 COL10A1 rs1064583 6:116125413:A:G 6 116125413 A G 6:116446576 0.996847 85194 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oesophageal obstruction 0.000341 0.2858 0.0798 Haemmorrhoids and perianal venous thrombosis 0.0004387 0.098 0.028 TSPYL1 rs45490498 6:116278696:T:C 6 116278696 T C 6:116599859 0.984991 4775 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of inner ear 0.000962 -0.2494 0.0755 Vascular diseases of the intestine 0.0004076 15.774 4.462 TSPYL1 rs140756663 6:116278733:G:T 6 116278733 G T 6:116599896 0.933513 154 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Effects of other external causes 0.000296 14.6392 4.0455 DSE rs10485183 6:116399324:C:T 6 116399324 C T 6:116720487 0.986248 55871 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of alcohol 0.000318 0.4011 0.1114 Alcoholic gastritis 0.0002883 0.802 0.221 DSE rs35548455 6:116399351:C:T 6 116399351 C T 6:116720514 0.981378 11336 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria not specified Congenital musculoskeletal deformities of head, face, spine and chest 0.00163 1.2427 0.3944 Gastro-oesophageal reflux disease 0.0008201 0.562 0.168 DSE rs34994230 6:116431127:A:G 6 116431127 A G 6:116752290 0.998217 0.0540464 1082 18774 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Primary open-angle glaucoma, strict 7.41e-05 0.2626 0.0663 Pre-eclampsia or eclampsia 0.0007682 0.611 0.182 DSE rs371480627 6:116433436:G:A 6 116433436 G A 6:116754599 0.976954 833 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Ischaemic heart disease, wide definition 0.00053 -0.4473 0.1291 DSE rs41313440 6:116435610:T:C 6 116435610 T C 6:116756773 0.998428 47617 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Disorders of mineral metabolism 0.000203 0.2847 0.0766 Disorders of lacrimal system and orbit in diseases classified elsewhere 0.0005886 0.8 0.233 RSPH4A rs13213314 6:116617069:C:G 6 116617069 C G 6:116938232 0.987993 31646 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Dislocation, sprain and strain of joints and ligaments of knee 0.000189 -0.0951 0.0255 Family history of malignant neoplasm 0.0008757 0.705 0.212 RSPH4A rs41289942 6:116622812:G:A 6 116622812 G A 6:116943975 0.991467 3575 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified Acute lymphadenitis 0.000101 1.105 0.2842 Female infertility, associated with anovulation 0.0009761 9.964 3.022 RSPH4A rs117169123 6:116628196:G:A 6 116628196 G A 6:116949359 0.998426 8261 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified Other diseases of pericardium 0.00044 1.0096 0.2872 Burn and corrosion of head and neck 0.0001554 9.237 2.442 RSPH4A rs6927567 6:116629571:G:A 6 116629571 G A 6:116950734 0.999999 69677 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Early onset COPD 0.000228 0.1197 0.0325 Pyogenic arthritis 0.0004033 0.257 0.073 RSPH4A rs784133 6:116629670:T:C 6 116629670 T C 6:116950833 0.997837 86610 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma, unspecified (mode) (more controls excluded) 0.000768 0.0625 0.0186 0.0005388 0.07 0.02 RSPH4A rs9488991 6:116630515:A:C 6 116630515 A C 6:116951678 0.994304 0.0318328 380 11315 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Otherdisorders of bone 3.98e-05 0.3268 0.0795 0.000961 -0.266 0.081 RSPH4A rs146142715 6:116632280:C:T 6 116632280 C T 6:116953443 0.997477 0.00330713 6 1209 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not provided Deficiency of other B group vitamins 7.32e-05 4.3873 1.1063 Lupus erythematosus 0.0006796 117.772 34.662 GPRC6A rs142518238 6:116792269:G:T 6 116792269 G T 6:117113432 0.998083 0.0178177 172 6374 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of heart and great arteries 4.34e-05 0.5901 0.1443 Personal history of other diseases and conditions 0.001285 4.412 1.371 GPRC6A rs550458778 6:116792598:A:AGG 6 116792598 A AGG 6:117113761 0.993833 34294 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Testicular hypofunction 0.000188 0.6766 0.1812 Burn and corrosion of trunk 0.0007418 1.124 0.333 GPRC6A rs371464745 6:116792599:T:TA 6 116792599 T TA 6:117113762 0.993833 34294 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Testicular hypofunction 0.000188 0.6766 0.1812 Burn and corrosion of trunk 0.0007418 1.124 0.333 GPRC6A rs368671066 6:116792602:T:TTCC 6 116792602 T TTCC 6:117113765 0.993833 34294 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Testicular hypofunction 0.000188 0.6766 0.1812 Burn and corrosion of trunk 0.0007418 1.124 0.333 RFX6 rs201996097 6:116877498:G:C 6 116877498 G C 6:117198661 0.979151 0.00434418 16 1580 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other systemic involvement of connective tissue 5.59e-05 0.8097 0.201 Combined immunodeficiencies 0.001303 68.282 21.236 RFX6 rs146081967 6:116927180:C:A 6 116927180 C A 6:117248343 0.994902 269 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of eye and adnexa (other cancers excluded from controls) 0.000337 14.2444 3.9735 RFX6 rs201522681 6:116928921:C:T 6 116928921 C T 6:117250084 0.97828 258 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Any dementia 6e-04 1.53 0.4459 ROS1 rs199882276 6:117310138:C:T 6 117310138 C T 6:117631301 0.949424 1655 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deforming dorsopathies 0.00025 0.6746 0.1842 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.0004783 146.815 42.036 ROS1 rs34203286 6:117387836:G:A 6 117387836 G A 6:117708999 0.951985 2395 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other (seronegative) rheumatoid arthritis, wide 0.0018 -0.6123 0.1962 Other noninflammatory disorders of uterus, except cervix 0.002722 5.242 1.749 ROS1 rs55959124 6:117397024:G:A 6 117397024 G A 6:117718187 0.994692 6708 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons with potential health hazards related to socioeconomic and psychosocial circumstances 0.00113 -0.2787 0.0856 Other arthrosis 0.0003777 1.028 0.289 NUS1 rs150646335 6:117693132:C:G 6 117693132 C G 6:118014295 0.955917 370 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gout, strict definition 0.00053 2.7032 0.7801 MCM9 rs61742362 6:118814970:T:C 6 118814970 T C 6:119136133 0.937476 2477 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of hip and thigh 0.000254 2.1156 0.5783 Acute epiglottitis 0.0001981 260.19 69.917 MCM9 rs78791427 6:118816282:C:A 6 118816282 C A 6:119137445 0.99716 4694 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to negative life events in childhood 0.000931 1.6897 0.5104 Chronic viral hepatitis 0.001005 10.388 3.158 MCM9 rs78231991 6:118913414:T:C 6 118913414 T C 6:119234579 0.980386 606 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other heart diseases 0.00124 -0.3362 0.1041 TBC1D32 rs200000443 6:121080878:G:A 6 121080878 G A 6:121402024 0.990702 3193 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasms of skin (other cancers excluded from controls) 0.000185 0.4204 0.1124 Other disorders of breast and lactation associated with childbirth 0.001189 66.812 20.611 TBC1D32 rs118077502 6:121090968:G:A 6 121090968 G A 6:121412114 0.97243 1387 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autism 0.00215 2.9919 0.9752 TBC1D32 rs191814118 6:121241495:C:T 6 121241495 C T 6:121562641 0.997636 372 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other infective otitis externa 0.000149 3.833 1.0107 GJA1 rs17653265 6:121447605:C:T 6 121447605 C T 6:121768751 0.975552 0.00270286 4 989 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oculodentodigital dysplasia;Oculodentodigital dysplasia, autosomal recessive;not specified Hypertension 9.56e-05 0.3833 0.0982 0 8.56 0 TRDN rs7771303 6:123273341:T:C 6 123273341 T C 6:123594486 0.990182 1988 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;not specified Burns and corrosions of multiple and unspecified body regions 0.000387 2.7428 0.7729 Tibial collateral bursitis [Pellegrini-Stieda] 0.0007223 112.843 33.376 TRDN rs200243235 6:123352541:T:C 6 123352541 T C 6:123673686 0.975911 226 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chorioretinal inflammation 0.000504 7.8179 2.2474 TRDN rs2873479 6:123366143:A:C 6 123366143 A C 6:123687288 0.998073 25491 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Paraplegia, diplegia of upper limbs 0.000628 -0.6323 0.1849 Other diseases of upper respiratory tract 0.001272 -0.028 0.009 TRDN rs17737379 6:123375621:G:T 6 123375621 G T 6:123696766 0.999752 44505 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Later onset COPD 0.000109 -0.1751 0.0453 Other and unspecified nerve root and plexus disorders, also in other diseases 7.231e-06 0.411 0.092 TRDN rs28494009 6:123377874:A:C 6 123377874 A C 6:123699019 0.993111 0.193855 13796 57424 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Special screening examination for neoplasms 8.72e-05 0.3232 0.0824 Eosinophilic disease (BM) 0.000606 0.86 0.251 TRDN rs6902416 6:123512312:G:C 6 123512312 G C 6:123833457 0.996227 40198 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arthrosis 0.00014 -0.0615 0.0162 Symptoms and signs involving the circulatory and respiratory systems 4.303e-05 -0.027 0.007 TRDN rs192289289 6:123547361:C:T 6 123547361 C T 6:123868506 0.955606 2882 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Catecholaminergic polymorphic ventricular tachycardia;not specified Fistulae involving female genital tract 0.000685 2.5493 0.7508 COPD-related respiratory insufficiency 0.0009296 3.456 1.044 TRDN rs9490809 6:123548462:G:C 6 123548462 G C 6:123869607 0.996993 0.573247 121030 89574 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic thrombocytopenic purpura 8.27e-05 -0.3245 0.0824 Viral pneumonia (known virus, not influenza) 4.984e-05 0.206 0.051 HEY2 rs145752173 6:125759677:G:A 6 125759677 G A 6:126080823 0.969206 2163 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of anal and rectal regions 0.000215 1.2021 0.3248 Pain in limb 0.0004326 4.556 1.294 THEMIS rs148069630 6:127855173:A:G 6 127855173 A G 6:128176318 0.988882 434 start_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 0.000774 2.2275 0.6626 PTPRK rs61757812 6:128322049:T:C 6 128322049 T C 6:128643194 0.989914 0.0169957 138 6106 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of radial nerve 5.21e-05 1.1586 0.2864 Disorders of puberty 0.00121 9.203 2.844 LAMA2 rs118083923 6:129192705:T:A 6 129192705 T A 6:129513850 0.994933 0.00176925 2 648 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hernia of abodminal wall, postoperative 2.15e-05 1.8921 0.4453 LAMA2 rs36044314 6:129250127:G:A 6 129250127 G A 6:129571272 0.993646 3096 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Laminin alpha 2-related dystrophy;not specified Other contact dermatitis 0.000615 0.8559 0.2499 Lumbosacral root disorders, not elsewhere classified 0.001167 71.271 21.952 LAMA2 rs3816665 6:129250185:G:A 6 129250185 G A 6:129571330 0.997529 53568 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mood disorders (more controls excluded) 0.000148 -0.0618 0.0163 Mood disorders (more controls excluded) 0.0001207 -0.095 0.025 LAMA2 rs117422805 6:129280072:C:T 6 129280072 C T 6:129601217 0.998077 0.00299955 26 1076 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Laminin alpha 2-related dystrophy;Merosin deficient congenital muscular dystrophy;not provided;not specified Non-small cell lung cancer, squamous (other cancers excluded from controls) 4.13e-05 4.2469 1.0358 Other disorders of patella 0.0003811 5.918 1.666 LAMA2 rs118147866 6:129280086:C:T 6 129280086 C T 6:129601231 0.998297 7899 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Muscular Dystrophy, LAMA2-related;Laminin alpha 2-related dystrophy;not provided;not specified Systemic atrophies primarly affecting the central nervous system 0.0024 0.7483 0.2465 Carcinoma in situ of skin of scalp and neck 0.0001644 24.645 6.54 LAMA2 rs2306942 6:129314655:G:A 6 129314655 G A 6:129635800 0.997735 0.0253656 274 9045 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Muscular Dystrophy, LAMA2-related;Merosin deficient congenital muscular dystrophy;not specified Childhood allergy (age < 16) 7.61e-06 0.51 0.1139 Spinal stenosis 0.0008968 0.854 0.257 LAMA2 rs147077184 6:129349348:C:T 6 129349348 C T 6:129670493 0.985699 1038 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Fitting and adjustment of other devices 0.00014 1.0614 0.2787 LAMA2 rs117781224 6:129366251:G:A 6 129366251 G A 6:129687396 0.982269 4695 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Laminin alpha 2-related dystrophy;not specified Synovial hypertrophy, not elsewhere classified 0.000888 2.2202 0.6679 Examination and observation for other reasons 0.0001265 1.595 0.416 LAMA2 rs56173620 6:129401308:C:A 6 129401308 C A 6:129722453 0.921889 2474 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Laminin alpha 2-related dystrophy;Polymicrogyria;not provided;not specified Iron deficiency anaemia secondary to blood loss (chronic) 0.000865 0.7193 0.2159 Disorders of other endocrine glands 0.0001747 7.064 1.882 LAMA2 rs200518204 6:129402450:G:A 6 129402450 G A 6:129723595 0.879849 0.000280358 0 103 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dementia in Alzheimer disease 3.84e-05 6.595 1.6019 LAMA2 rs182064878 6:129441003:G:C 6 129441003 G C 6:129762148 0.970819 0.00102072 2 373 LC recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Any gastric operation 2.59e-05 -0.4933 0.1172 LAMA2 rs2229848 6:129486484:C:T 6 129486484 C T 6:129807629 0.999957 83986 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of eyelid, lacrimal system and orbit 0.000174 0.0534 0.0142 Traumatic ischaemia of muscle 8.615e-05 0.336 0.085 LAMA2 rs2244008 6:129491908:A:G 6 129491908 A G 6:129813053 0.991972 36474 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of eyelid, lacrimal system and orbit 0.000193 -0.0805 0.0216 Medical observation and evaluation for suspected diseases and conditions 0.00117 -0.112 0.035 ENPP1 rs754866098 6:131808189:C:T 6 131808189 C T 6:132129329 0.931057 0.0017012 2 623 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Haemolytic anaemias 2.68e-05 6.1607 1.4671 ENPP1 rs1044498 6:131851228:A:C 6 131851228 A C 6:132172368 0.996338 41519 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified disorders of skin and subcutaneous tissue 0.000902 0.2405 0.0724 Myocardial infarction 0.0004961 -0.167 0.048 ENPP1 rs190947144 6:131860451:C:T 6 131860451 C T 6:132181591 0.994941 880 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tobacco use 0.000855 3.8104 1.1428 ENPP1 rs199890118 6:131877066:T:C 6 131877066 T C 6:132198206 0.972961 166 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Nonalcoholic fatty liver disease 0.000256 6.6838 1.8282 ENPP1 rs28933977 6:131884939:C:T 6 131884939 C T 6:132206079 0.995517 32515 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arterial calcification of infancy;Hypophosphatemic Rickets, Recessive;not specified Aortic aneurysm 0.000616 0.1939 0.0566 Systemic connective tissue disorders 0.0002464 0.301 0.082 ENPP1 rs140729669 6:131890357:C:T 6 131890357 C T 6:132211497 0.968045 0.00170936 2 626 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Simple and mucoplurulent chronic bronchitis 8.66e-05 4.2281 1.0771 ENPP1 rs8192683 6:131890390:G:C 6 131890390 G C 6:132211530 0.982413 371 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Lactose intolerance, other/unspecified 0.00171 5.2987 1.6893 TAAR6 rs117814299 6:132570483:G:A 6 132570483 G A 6:132891622 0.850354 97 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholelithiasis 0.000795 1.411 0.4206 TAAR6 rs41298395 6:132570617:A:G 6 132570617 A G 6:132891756 0.818624 633 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis, not elsewhere classified 0.000219 11.1603 3.0199 Fracture of femur 0.007446 12.859 4.805 VNN1 rs150683215 6:132694054:C:T 6 132694054 C T 6:133015193 0.983009 2405 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obsessive-compulsive disorder 0.000231 1.3029 0.3539 Hydatidiform mole 0.001659 53.826 17.113 VNN2 rs139348170 6:132757747:G:A 6 132757747 G A 6:133078886 0.99006 1692 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter conjunctival degenerations and deposits 0.00158 2.4215 0.7662 Varicose veins 0.0001037 3.138 0.808 EYA4 rs9493627 6:133468590:G:A 6 133468590 G A 6:133789728 0.993316 0.251377 23194 69159 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sensorineural hearing loss 3.28e-06 0.0736 0.0158 Malignant neoplasm of digestive organs 0.000646 0.11 0.032 EYA4 rs144415484 6:133481471:G:A 6 133481471 G A 6:133802609 0.984399 1495 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1J;not provided;not specified Soft tissue disorders related to use, overuse and pressure 0.000224 0.7787 0.211 Malignant neoplasm of corpus uteri 5.12e-05 24.023 5.931 EYA4 rs140170914 6:133481527:G:C 6 133481527 G C 6:133802665 0.89676 95 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nontoxic single thyroid nodule 0.000936 6.1994 1.8734 EYA4 rs142122118 6:133513032:G:A 6 133513032 G A 6:133834170 0.949216 661 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dilated cardiomyopathy 1J Olecranon bursitis 0.000872 2.7832 0.836 Other intervertebral disc disorders 0 3.95 0 TCF21 rs61729591 6:133889460:C:G 6 133889460 C G 6:134210598 0.954596 2016 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria not provided Lichen simplex chronicus 0.000105 2.5436 0.6556 Malignant neoplasm of small intestine (other cancers excluded from controls) 0.002034 41.724 13.524 HBS1L rs111758776 6:135002834:C:T 6 135002834 C T 6:135323972 0.971419 1158 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic ileus and intestinal obstruction 0.000684 -0.8205 0.2416 Abnormal findings in nipple discharge synovial fluid wound secretions 0.0005131 150.008 43.182 AHI1 rs117447608 6:135318577:G:A 6 135318577 G A 6:135639715 0.970448 2376 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Joubert syndrome 3;not provided;not specified Speech disturbances, not elsewhere classified 0.000858 1.1207 0.3362 Scar conditions and fibrosis of skin 7.803e-05 32.31 8.179 AHI1 rs148000791 6:135323233:T:C 6 135323233 T C 6:135644371 0.994614 575 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Joubert syndrome;Joubert syndrome 3;not provided;not specified Other (seronegative) rheumatoid arthritis, wide 0.000264 1.8177 0.4982 Examination and observation for other reasons 9.546e-06 5.449 1.231 AHI1 rs201074308 6:135388010:T:C 6 135388010 T C 6:135709148 0.985439 2032 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Injuries to the ankle and foot 0.000877 0.3437 0.1033 Chronic lower respiratory diseases 0.0001528 2.129 0.562 AHI1 rs41288013 6:135411511:T:C 6 135411511 T C 6:135732649 0.982735 416 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Subjective visual disturbances 0.00471 1.3036 0.4613 AHI1 rs13312995 6:135429886:G:A 6 135429886 G A 6:135751024 0.992303 8530 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;not specified Transient global amnesia 0.00066 0.512 0.1503 Ulcerative colitis, NAS 0.0001328 2.997 0.784 AHI1 rs35433555 6:135447144:C:T 6 135447144 C T 6:135768282 0.964178 5649 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;not specified Postzoster neuralgia 0.000791 2.0568 0.6129 Other and unspecified tonssillitis 0.0003703 1.775 0.498 AHI1 rs146416468 6:135466046:C:T 6 135466046 C T 6:135787184 0.989649 0.0148943 112 5360 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;not specified Other epidermal thickening 3.09e-05 1.4068 0.3376 Chlocystitis 0.00023 4.55 1.235 PEX7 rs113268723 6:136845652:A:C 6 136845652 A C 6:137166790 0.995515 0.0106672 50 3869 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Peroxisome biogenesis disorder 9B;Phytanic acid storage disease;Rhizomelic chondrodysplasia punctata type 1;not provided;not specified Synovial hypertrophy, not elsewhere classified 5.02e-05 3.1783 0.7838 0.0008505 -0.667 0.2 IFNGR1 rs1887415 6:137198101:A:G 6 137198101 A G 6:137519238 0.994294 6534 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial Atypical Mycobacteriosis, Autosomal Recessive Death due to cardiac causes 0.00157 -0.2372 0.075 Benign neoplasm: Brain, supratentorial (other cancers excluded from controls) 9.106e-06 23.073 5.2 TNFAIP3 rs146534657 6:137874854:A:G 6 137874854 A G 6:138195991 0.995208 634 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic amputation of wrist and hand 0.000326 3.3309 0.9268 TNFAIP3 rs2230926 6:137874929:T:G 6 137874929 T G 6:138196066 0.996212 6498 missense_variant dominant not provided not_provided no assertion provided none not specified Systemic lupus erythematosus, unspecified 0.000254 1.1191 0.3059 Small cell lung cancer (other cancers excluded from controls) 0.0004937 14.852 4.263 TNFAIP3 rs150355046 6:137881177:G:A 6 137881177 G A 6:138202314 0.972501 206 missense_variant dominant not provided not_provided no assertion provided none Lesion of ulnar nerve 0.000696 3.3276 0.9812 ECT2L rs1529151 6:138876472:G:A 6 138876472 G A 6:139197609 0.989533 0.240579 21426 66960 missense_variant unknown not provided not_provided no assertion provided none Hallux valgus (acquired) 8.09e-05 -0.091 0.0231 Burns and corrosions 0.0004105 -0.195 0.055 ECT2L rs138935097 6:138881000:T:C 6 138881000 T C 6:139202137 0.845344 201 missense_variant unknown not provided not_provided no assertion provided none Habitual aborter 0.000376 14.1486 3.978 ECT2L rs758549443 6:138882869:AAGGTAAATG:A 6 138882869 AAGGTAAATG A 6:139204006 0.985147 816 pLoF unknown not provided not_provided no assertion provided none Other symptoms and signs involving the urinary system 0.00133 2.0102 0.6264 ECT2L rs199701983 6:138885751:C:T 6 138885751 C T 6:139206888 0.992437 1370 missense_variant unknown not provided not_provided no assertion provided none Mucosal proctocolitis 0.000212 1.2573 0.3394 CITED2 rs111814036 6:139373466:T:A 6 139373466 T A 6:139694603 0.979516 624 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary coxarthrosis, bilateral 0.000304 1.2856 0.3559 NMBR rs142626832 6:142075893:G:A 6 142075893 G A 6:142397030 0.953701 1198 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter AV-block 0.000108 1.2786 0.3303 4.891e-05 26.625 6.557 ADGRG6 rs193295605 6:142402658:A:G 6 142402658 A G 6:142723795 0.978062 1282 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Asthma/COPD (KELA code 203) 0.000178 0.4134 0.1103 ADGRG6 rs146727650 6:142402665:A:T 6 142402665 A T 6:142723802 0.976367 1745 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the respiratory system 0.0012 -0.1607 0.0496 Asthma/COPD (KELA code 203) 0.0001823 3.554 0.95 ADGRG6 rs1262686 6:142437494:A:G 6 142437494 A G 6:142758631 0.885168 218 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other special examinations and investigations of persons without complaint or reported diagnosis 0.000935 0.5825 0.176 Congenital malformations and deformations of the musculoskeletal system 0.0009074 -2.028 0.611 HIVEP2 rs117019703 6:142753412:G:A 6 142753412 G A 6:143074549 0.99167 0.00195434 4 714 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Open wound of hip and thigh 2.5e-05 5.2849 1.254 Benign neoplasm: Choroid 0.000388 189.712 53.468 HIVEP2 rs144732790 6:142753495:G:T 6 142753495 G T 6:143074632 0.956949 0.00535401 8 1959 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Short Achilles tendon (acquired) 3.66e-06 3.6803 0.795 Malignant neoplasm of liver and intrahepatic bile ducts 0.0004401 143.158 40.73 HIVEP2 rs141050437 6:142773706:T:C 6 142773706 T C 6:143094843 0.996267 9128 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Outcome of delivery 0.000786 -0.2407 0.0717 Other and unspecified vasculitis limited to skin 0.002526 6.982 2.312 HIVEP2 rs202020297 6:142773963:T:C 6 142773963 T C 6:143095100 0.965278 355 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Conjunctiva 0.00102 6.2248 1.8948 PEX3 rs35220041 6:143462955:A:G 6 143462955 A G 6:143784092 0.937539 80 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizotypal disorder 0.000115 10.1438 2.63 PLAGL1 rs147054773 6:143941905:T:G 6 143941905 T G 6:144263042 0.960212 286 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lacrimal system and orbit in diseases classified elsewhere 0.000478 7.9326 2.2711 STX11 rs34470310 6:144186653:T:G 6 144186653 T G 6:144507790 0.986525 0.00248783 2 912 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chalazion 5.88e-05 1.8657 0.4644 STX11 rs17073498 6:144186773:G:A 6 144186773 G A 6:144507910 0.994273 2040 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hemophagocytic lymphohistiocytosis;Hemophagocytic lymphohistiocytosis, familial, 4;not specified Frostbite 0.000328 3.9268 1.0931 In situ neoplasms 0.000491 13.843 3.971 STX11 rs45574234 6:144187426:G:A 6 144187426 G A 6:144508563 0.970243 1226 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hemophagocytic lymphohistiocytosis, familial, 4;not specified Cauda equina syndrome 0.000382 5.8847 1.6566 Otalgia 0.0006584 117.157 34.394 UTRN rs77066116 6:144490183:A:G 6 144490183 A G 6:144811319 0.982276 0.0120499 38 4389 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of gallbladder 7.63e-06 1.5175 0.3391 Vitamin D deficiency 0.001922 51.017 16.446 UTRN rs35042870 6:144499345:C:G 6 144499345 C G 6:144820481 0.948952 635 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dementia due to Parkinsons disease 0.000417 5.7258 1.6224 Nerve, nerve root and plexus disorders 0 4.149 0 UTRN rs35676466 6:144533206:G:A 6 144533206 G A 6:144854342 0.954656 0.0188384 112 6809 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contact with and exposure to communicable diseases 6.24e-05 0.7545 0.1885 Acute sinusitis 0.001136 1.238 0.38 UTRN rs144822430 6:144539312:G:A 6 144539312 G A 6:144860448 0.996873 2793 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Motor disorders (more controls excluded) 0.00172 2.744 0.8752 Tic disorders (more controls excluded) 7.827e-05 31.869 8.069 UTRN rs116515472 6:144548723:A:G 6 144548723 A G 6:144869859 0.986965 254 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified fall 0.00108 20.9817 6.4188 EPM2A rs141975071 6:145627676:G:A 6 145627676 G A 6:145948812 0.976721 168 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in other circumstances 0.00073 0.9344 0.2766 EPM2A rs147399860 6:145635283:G:A 6 145635283 G A 6:145956419 0.990022 201 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of the genitourinary system 0.000454 3.5657 1.0168 SHPRH rs117586623 6:145954847:T:G 6 145954847 T G 6:146275983 0.996236 4496 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Suppurative and necrotic conditions of lower respiratory tract 0.00043 1.1356 0.3225 Diseases of the respiratory system 0.0003909 -0.666 0.188 GRM1 rs151255685 6:146352435:T:G 6 146352435 T G 6:146673571 0.930602 211 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Varus deformity, not elsewhere classified 0.000136 19.2752 5.0512 GRM1 rs200495057 6:146399021:G:A 6 146399021 G A 6:146720157 0.973585 343 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter AV-block 0.000492 2.1208 0.6085 GRM1 rs6923492 6:146434188:T:C 6 146434188 T C 6:146755324 0.995745 90656 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Liver 0.000288 0.3871 0.1068 Calcific tendinitis of shoulder 0.0005142 -0.176 0.051 STXBP5 rs148830578 6:147315617:A:G 6 147315617 A G 6:147636753 0.990693 3861 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Follicular lymphoma (other cancers excluded from controls) 0.000239 1.4939 0.4066 Benign neoplasm: Kidney 0.001186 23.146 7.139 SASH1 rs144633784 6:148543929:G:A 6 148543929 G A 6:148865065 0.810723 0.000228641 0 84 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebral palsy and other paralytic syndromes 1.46e-05 8.0347 1.8534 SASH1 rs140316955 6:148544554:C:A 6 148544554 C A 6:148865690 0.971311 6187 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paraplegia, diplegia of upper limbs 0.000123 1.6009 0.4169 Torticollis 0.0004313 15.859 4.505 SUMO4 rs237025 6:149400554:G:A 6 149400554 G A 6:149721690 0.999888 91524 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Cerebrovascular diseases (FINNGEN) 0.00115 -0.057 0.0175 Long labour 0.0005279 -0.081 0.023 LATS1 rs55874734 6:149683498:G:A 6 149683498 G A 6:150004634 0.973936 1364 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of patella 0.000359 0.8194 0.2296 Pulmonary oedema 0.0005204 144.05 41.513 ULBP2 rs146872141 6:149947397:A:C 6 149947397 A C 6:150268533 0.995398 14786 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in circumstances related to reproduction 0.000693 0.0882 0.026 Other diseases of intestine 0.0001054 2.032 0.524 IYD rs144193430 6:150389354:G:A 6 150389354 G A 6:150710490 0.983925 1188 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other retinal artery occlusion 0.000194 4.3464 1.1665 Diabetes, varying definitions 0 3.316 0 IYD rs146905706 6:150394172:G:A 6 150394172 G A 6:150715308 0.981754 415 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspecified lump in breast 0.00267 1.5867 0.5284 IYD rs612421 6:150395560:T:C 6 150395560 T C 6:150716696 0.993568 39209 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adrenocortical insufficiency 0.000333 -0.4675 0.1303 Adrenocortical insufficiency 0.0001017 -0.279 0.072 IYD rs200771803 6:150398129:C:T 6 150398129 C T 6:150719265 0.829395 60 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Systemic sclerosis 0.000331 38.5841 10.7492 AKAP12 rs142810400 6:151349521:T:C 6 151349521 T C 6:151670656 0.97859 5881 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Femoral hernia 0.000563 0.8449 0.245 0.0006038 -0.473 0.138 AKAP12 rs147345804 6:151350230:C:A 6 151350230 C A 6:151671365 0.989478 282 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other acquired deformities of musculoskeletal system and connective tissue 0.000604 5.213 1.52 AKAP12 rs61757549 6:151351438:C:T 6 151351438 C T 6:151672573 0.926433 155 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral pneumonia (unknown virus, not influenza) 0.00126 8.9822 2.7842 RMND1 rs142521318 6:151433176:G:A 6 151433176 G A 6:151754311 0.98875 346 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ectropion of eyelid 0.000946 6.2636 1.8946 RMND1 rs3734800 6:151445417:G:A 6 151445417 G A 6:151766552 0.995376 34150 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified iron deficiency 0.000314 0.1522 0.0423 Congenital deformities of hip 0.001052 1.515 0.462 RMND1 rs11550103 6:151445687:C:A 6 151445687 C A 6:151766822 0.994466 0.126727 6096 40462 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis 6.65e-05 -0.1236 0.031 Malignant neoplasm of digestive organs 0.0004419 0.221 0.063 CCDC170 rs6929137 6:151615542:G:A 6 151615542 G A 6:151936677 0.999671 0.198629 14708 58266 missense_variant unknown Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Malignant neoplasm of breast (other cancers excluded from controls) 1.01e-07 0.1348 0.0253 Malaise and fatigue 0.0007382 0.123 0.036 ESR1 rs139960913 6:151807928:C:T 6 151807928 C T 6:152129063 0.959851 1625 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Localized swelling, mass and lump of skin and subcutaneous tissue 0.000164 0.7081 0.1879 Subarachnoid haemmorrhage 0.000118 23.07 5.992 ESR1 rs200075329 6:151808264:T:C 6 151808264 T C 6:152129399 0.977761 5882 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatitis and eczema 0.0017 -0.1556 0.0496 Polymyalgia rheumatica 0.0001878 4.692 1.256 ESR1 rs149308960 6:151842622:G:T 6 151842622 G T 6:152163757 0.949386 1435 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other obstructed labour 0.000579 1.9914 0.5787 SYNE1 rs2295190 6:152122609:G:T 6 152122609 G T 6:152443744 0.999395 58086 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dysplasia of cervi uteri 0.000568 0.1099 0.0319 Diseases of arteries, arterioles and capillaries 0.0009556 0.094 0.028 SYNE1 rs2295191 6:152122621:C:T 6 152122621 C T 6:152443756 0.992687 0.0551488 1298 18963 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Other and unspecified hydrocephalus 9.42e-05 1.2211 0.3127 Secondary hypertension 1.851e-05 1.488 0.348 SYNE1 rs2295192 6:152122626:C:T 6 152122626 C T 6:152443761 0.996148 23737 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not specified Medication related adverse effects (Asthma/COPD) 0.000625 -0.0713 0.0208 Other disorders of penis 0.0004626 0.892 0.255 SYNE1 rs35591210 6:152132156:G:A 6 152132156 G A 6:152453291 0.993388 22224 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not specified Congenital malformations of the musculoskeletal system, not elsewhere classified 3e-04 0.9821 0.2716 Preterm labour and delivery 0.001214 0.48 0.148 SYNE1 rs143049227 6:152140005:C:T 6 152140005 C T 6:152461140 0.934511 410 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Personal history of certain other diseases 0.000271 12.4738 3.4258 SYNE1 rs148376885 6:152143651:G:A 6 152143651 G A 6:152464786 0.976656 1525 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Tobacco use 0.000491 3.0533 0.876 Problems related to life-management difficulty 0.0001368 22.969 6.023 SYNE1 rs2252755 6:152148053:C:G 6 152148053 C G 6:152469188 0.99977 64517 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Genitourinary diseases 0.000871 -0.0288 0.0086 Paroxysmal tachycardia 0.0002114 -0.147 0.04 SYNE1 rs141716975 6:152148069:G:A 6 152148069 G A 6:152469204 0.995057 1939 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified Malignant neoplasm of bladder (other cancers excluded from controls) 0.000623 1.1555 0.3377 Other contact dermatitis 0.0005095 14.12 4.062 SYNE1 rs200346917 6:152148155:T:C 6 152148155 T C 6:152469290 0.972966 640 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Mixed disorders of conduct and emotions (more controls excluded) 0.000616 4.8733 1.4231 SYNE1 rs17082236 6:152149617:C:A 6 152149617 C A 6:152470752 0.998941 0.0432622 694 15200 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not specified Degeneration of the brain due to alcohol 7.51e-05 0.9281 0.2344 Other mental disorders due to brain damage and dysfunction and to physical disease 0.0001605 1.635 0.433 SYNE1 rs138787771 6:152180281:C:T 6 152180281 C T 6:152501416 0.925895 0.00166037 4 606 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified Hypothermia 4.34e-05 9.8706 2.414 Supervision of normal pregnancy 0.0003927 2.178 0.614 SYNE1 rs142117628 6:152206274:C:T 6 152206274 C T 6:152527409 0.962346 167 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Enterocolitis due to Clostridium difficile 0.000436 4.3994 1.2508 SYNE1 rs35763277 6:152211567:T:C 6 152211567 T C 6:152532702 0.991496 8821 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Parkinson's disease 0.000175 0.4452 0.1186 7.902e-05 -0.586 0.148 SYNE1 rs2147377 6:152219143:A:C 6 152219143 A C 6:152540278 0.991336 4123 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cyst of kidney 0.000614 -1.0215 0.2982 Cyst of kidney 0.0005204 -0.523 0.151 SYNE1 rs755740366 6:152254999:G:C 6 152254999 G C 6:152576134 0.899348 123 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Primary open-angle glaucoma 0.000322 2.8366 0.7887 SYNE1 rs76160752 6:152308496:C:T 6 152308496 C T 6:152629631 0.9876 0.00319009 8 1164 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Congenital malformations of the musculoskeletal system, not elsewhere classified 7.27e-05 6.4419 1.6237 Benign neoplasm: Skin of lip 0.0008144 132.84 39.679 SYNE1 rs2306914 6:152318975:G:A 6 152318975 G A 6:152640110 0.999395 0.041199 638 14498 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Atrial fibrillation and flutter 7.29e-06 0.1836 0.0409 Other diseases caused by chlamydiae 0.0006696 5.649 1.661 SYNE1 rs2306916 6:152326546:A:T 6 152326546 A T 6:152647681 0.999185 48801 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Long labour 0.000466 -0.1435 0.041 Long labour 0.001098 -0.076 0.023 SYNE1 rs187910661 6:152330404:T:C 6 152330404 T C 6:152651539 0.995726 3656 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other enthesopathies 0.00104 0.3705 0.113 Intestinal adhesions without obstruction 9.973e-05 9.937 2.554 SYNE1 rs41301343 6:152330422:G:A 6 152330422 G A 6:152651557 0.974713 0.000734918 0 270 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Sequelae of injuries of upper limb 2.11e-05 4.9316 1.1596 SYNE1 rs6911096 6:152330899:A:T 6 152330899 A T 6:152652034 0.999056 48855 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Long labour 0.000372 -0.1459 0.041 Long labour 0.001034 -0.076 0.023 SYNE1 rs200825287 6:152331732:G:A 6 152331732 G A 6:152652867 0.998839 1317 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peripheral retinal degeneration 0.000115 3.1181 0.8084 Alergic contact dermatitis 8.23e-05 26.316 6.683 SYNE1 rs117501809 6:152336927:C:G 6 152336927 C G 6:152658062 0.997569 0.0312286 322 11151 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Malignant neoplasm of rectosigmoid junction 9.58e-06 1.6859 0.3809 Proliferative diabetic retinopathy 2.986e-05 1.06 0.254 SYNE1 rs28385621 6:152337006:C:A 6 152337006 C A 6:152658141 0.997876 17417 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not specified Inguinal hernia, bilateral 0.00116 0.3176 0.0978 Injuries to the elbow and forearm 6.366e-06 0.492 0.109 SYNE1 rs9479297 6:152337007:T:C 6 152337007 T C 6:152658142 0.994827 53287 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Long labour 0.000105 -0.1523 0.0393 Long labour 0.0002552 -0.083 0.023 SYNE1 rs146567178 6:152339242:G:A 6 152339242 G A 6:152660377 0.992196 2075 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified Von Willebrand disease 0.000872 3.8159 1.1463 Convalescence 0.0001621 22.199 5.886 SYNE1 rs4645434 6:152344126:C:A 6 152344126 C A 6:152665261 0.999937 0.541648 108228 90767 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis 2.32e-11 -0.13 0.0194 Endometriosis 1.206e-10 -0.098 0.015 SYNE1 rs111449472 6:152347076:A:G 6 152347076 A G 6:152668211 0.996406 5288 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Ulcerative proctitis 0.000259 0.8959 0.2453 Malignant neoplasm of breast 0.0005922 1.553 0.452 SYNE1 rs13210127 6:152350730:T:G 6 152350730 T G 6:152671865 0.999659 7656 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Other/unspecified soft tissue disorders related to use, overuse and pressure 0.000834 1.006 0.3011 3.035e-06 13.17 2.821 SYNE1 rs143070183 6:152353329:C:A 6 152353329 C A 6:152674464 0.930008 757 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Lactose intolerance, other/unspecified 0.000247 4.2287 1.1536 SYNE1 rs145911138 6:152358383:C:T 6 152358383 C T 6:152679518 0.999176 4474 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified Benign neoplasm: Skin, unspecified 0.000306 1.2193 0.3378 Transport accidents 3.986e-05 48.174 11.726 SYNE1 rs150170988 6:152364955:G:T 6 152364955 G T 6:152686090 0.991373 1501 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified Burn and corrosion of wrist and hand 0.000292 2.665 0.7357 Mixed and other personality disorders 8.795e-05 26.715 6.812 SYNE1 rs117360770 6:152376557:G:C 6 152376557 G C 6:152697692 0.951915 200 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspesified nephritic syndrome 0.000894 4.6604 1.4029 SYNE1 rs214950 6:152387175:G:A 6 152387175 G A 6:152708310 0.999888 0.19131 13606 56679 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leiomyoma of uterus (other cancers excluded from controls) 1.98e-05 -0.0787 0.0184 Leiomyoma of uterus 0.0005784 -0.091 0.026 SYNE1 rs151091241 6:152390293:C:T 6 152390293 C T 6:152711428 0.996531 3930 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified Undefined dementia (more controls excluded) 0.000292 0.7736 0.2136 Calcific tendinitis of shoulder 0.001395 8.971 2.807 SYNE1 rs138004884 6:152401233:A:G 6 152401233 A G 6:152722368 0.997619 2212 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified Giant cell arteritis 0.00106 1.9158 0.5852 Convalescence 0.0001912 20.854 5.59 SYNE1 rs141858284 6:152409087:G:A 6 152409087 G A 6:152730222 0.979163 0.00284985 8 1039 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Chondrocostal junction syndrome [Tietze] 4.53e-05 4.1204 1.0102 Hirsutism 0.000246 285.135 77.769 SYNE1 rs149146258 6:152416438:C:T 6 152416438 C T 6:152737573 0.996372 2308 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified Melanocytic naevi of scalp and neck 0.000967 2.1432 0.6494 Impingement syndrome of shoulder 0.001876 6.857 2.205 SYNE1 rs141796889 6:152419649:T:A 6 152419649 T A 6:152740784 0.993237 14955 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Calcaneal spur 0.000415 1.1526 0.3265 Pre-eclampsia 0.0003836 1.141 0.321 SYNE1 rs111250109 6:152425458:A:T 6 152425458 A T 6:152746593 0.999783 16989 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Alcoholic gastritis 0.00124 0.7724 0.2392 Alcoholic gastritis 0.0001474 5.34 1.407 SYNE1 rs149758808 6:152425547:C:A 6 152425547 C A 6:152746682 0.994811 1278 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified Substance use, excluding alcohol 0.000473 -0.889 0.2543 Alcoholic gastritis 0.0004787 143.307 41.034 SYNE1 rs77675624 6:152430143:G:T 6 152430143 G T 6:152751278 0.999004 4077 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Adverse effects, not elsewhere classified 0.000216 0.5533 0.1496 Superficial injury of ankle and foot 0.0008602 5.04 1.512 SYNE1 rs149109801 6:152441172:A:T 6 152441172 A T 6:152762307 0.905159 121 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of liver 0.000109 4.9205 1.2715 SYNE1 rs760256766 6:152449601:G:C 6 152449601 G C 6:152770736 0.967221 0.000773025 0 284 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of kidney, except renal pelvis 5.55e-05 5.0603 1.2553 SYNE1 rs214976 6:152451129:A:G 6 152451129 A G 6:152772264 0.999972 0.393644 56792 87828 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leiomyoma of uterus 1.67e-06 -0.0685 0.0143 Leiomyoma of uterus 1.15e-07 -0.073 0.014 SYNE1 rs148346599 6:152453618:C:T 6 152453618 C T 6:152774753 0.998108 6351 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified Fibromyalgia 0.000433 0.8964 0.2547 Oesophageal obstruction 0.0008148 11.927 3.563 SYNE1 rs201146062 6:152455437:G:A 6 152455437 G A 6:152776572 0.980996 3581 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Pustulosis palmaris et plantaris 0.000483 1.4145 0.4053 Type 1 diabetes without complications 0.0001808 3.387 0.905 SYNE1 rs17082709 6:152455960:A:C 6 152455960 A C 6:152777095 0.999826 19230 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;not specified Alcoholic gastritis 0.00161 0.6916 0.2193 Alcoholic gastritis 0.000268 3.194 0.876 SYNE1 rs34610829 6:152458798:G:A 6 152458798 G A 6:152779933 0.997371 0.0203681 166 7317 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8;not specified Primary open-angle glaucoma 2.43e-05 0.3987 0.0944 Chronic pancreatitis 5.889e-05 4.379 1.09 SYNE1 rs9397509 6:152463486:T:C 6 152463486 T C 6:152784621 0.997129 4923 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebellar ataxia;Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Intellectual functioning disability;Spinocerebellar ataxia, autosomal recessive 8;not provided;not specified Anaemias 0.000585 -0.2794 0.0813 Abnormal blood-pressure reading, without diagnosis 0.000762 12.249 3.639 SYNE1 rs761189574 6:152520526:C:T 6 152520526 C T 6:152841661 0.969332 34 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Ischemic heart diseases 0.000607 2.1305 0.6214 OPRM1 rs1799971 6:154039662:A:G 6 154039662 A G 6:154360797 0.999683 0.195545 14324 57517 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Diplopia 2.52e-05 -0.2087 0.0495 Adhesive capsulitis of shoulder 0.0005881 0.19 0.055 OPRM1 rs17174794 6:154089975:C:G 6 154089975 C G 6:154411110 0.943943 1200 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Wide developmental disorders (more controls excluded) 0.000103 4.7354 1.2197 OPRM1 rs677830 6:154107531:C:T 6 154107531 C T 6:154428666 0.99931 59794 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emotional disorders starting during childhood or adolecense 0.000314 -0.2668 0.074 Open wound of shoulder and upper arm 0.0004793 0.745 0.213 TIAM2 rs150560357 6:155183335:G:A 6 155183335 G A 6:155504469 0.891712 69 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Excessive vomiting in pregnancy 0.000839 9.8461 2.9482 TIAM2 rs1571767 6:155256731:T:A 6 155256731 T A 6:155577865 0.975723 785 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiovascular diseases 0.000627 -0.315 0.0921 Phlebitis and thrombophlebitis (not including DVT) 0.00434 23.113 8.103 ARID1B rs762287165 6:156778178:GCAC:G 6 156778178 GCAC G 6:157099312 0.973589 0.0156946 102 5664 inframe_indel dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of vitreous body 7.68e-05 -0.3253 0.0823 Mental and behabioural disorders of puerperum, not classified elsewhere (more controls excluded) 7.362e-05 33.96 8.566 ARID1B rs17318151 6:156829362:A:G 6 156829362 A G 6:157150496 0.982191 7991 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter History of neurodevelopmental disorder;not specified Other eating disorders 0.000212 0.7538 0.2035 Emotional disorders starting during childhood or adolecense (more controls excluded) 0.0002358 7.002 1.904 ARID1B rs139620600 6:157167138:A:T 6 157167138 A T 6:157488272 0.975022 294 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspesified kidney failure 0.000397 4.5844 1.2944 ARID1B rs199674889 6:157196248:G:A 6 157196248 G A 6:157517382 0.962763 599 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Endocarditis 0.000198 5.233 1.4061 ARID1B rs140177120 6:157203986:A:G 6 157203986 A G 6:157525120 0.92515 197 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ill-defined and unknown causes of mortality 0.000871 10.1 3.0338 ARID1B rs201137071 6:157206450:C:T 6 157206450 C T 6:157527584 0.981208 337 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin of lip 0.00138 8.8373 2.7626 ZDHHC14 rs73571886 6:157672910:G:A 6 157672910 G A 6:158093942 0.997654 11213 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcoholic gastritis 5e-04 1.0501 0.3017 Mental disorders, not otherwise specified 0.0008159 2.386 0.713 SNX9 rs61748681 6:157901963:G:A 6 157901963 G A 6:158322995 0.95133 2193 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of eye, brain and central nervous system 0.000168 1.1003 0.2924 Chronic nephritic syndrome 5.63e-05 38.969 9.675 TMEM181 rs117665206 6:158608455:C:T 6 158608455 C T 6:159029487 0.993237 7403 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other general symptoms and signs 0.000385 0.9491 0.2674 Hypersensitivity pneumonitis due to organic dust 0.001234 9.799 3.033 RSPH3 rs144678437 6:158977659:T:C 6 158977659 T C 6:159398691 0.974838 3304 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 32 Impingement syndrome of shoulder 0.00014 0.483 0.1268 Other acute viral hepatitis 1.236e-05 75.618 17.299 RSPH3 rs12204826 6:158977771:C:T 6 158977771 C T 6:159398803 0.997579 5198 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 32 Contusion of ankle 0.000265 1.2538 0.3438 Congenital iodine-deficiency syndrome/hypothyroidism 0.0004948 14.675 4.213 RSPH3 rs10455840 6:158980866:C:T 6 158980866 C T 6:159401898 0.997572 5198 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 32 Contusion of ankle 0.000263 1.2548 0.3439 Congenital iodine-deficiency syndrome/hypothyroidism 0.0004833 14.826 4.248 RSPH3 rs41267751 6:158986384:C:T 6 158986384 C T 6:159407416 0.92736 380 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 32 Communicating hydrocephalus 0.00197 7.9741 2.5765 Mental disorders, not otherwise specified 0.001288 62.431 19.397 RSPH3 rs41267753 6:158986415:G:A 6 158986415 G A 6:159407447 0.999714 0.0362396 532 12782 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 32 Ulcerative colitis, NAS 2.9e-05 -0.4089 0.0978 Alopecia areata 0.0001252 5.556 1.449 RSPH3 rs41267755 6:158999703:G:A 6 158999703 G A 6:159420735 0.962409 0.000789356 0 290 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter COPD, hospital admissions 9.26e-05 1.6042 0.4104 FNDC1 rs148688806 6:159233162:C:T 6 159233162 C T 6:159654194 0.963406 893 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pyogenic granuloma 0.000373 5.7493 1.6157 Dorsopathies 0 2.882 0 FNDC1 rs142239017 6:159233507:G:A 6 159233507 G A 6:159654539 0.992296 2850 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.000528 1.2826 0.3701 Intestinal malabsorbtion 0.0001077 28.095 7.255 SOD2 rs4880 6:159692840:A:G 6 159692840 A G 6:160113872 0.999911 91784 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Problems related to certain psychosocial circumstances 0.000959 -0.1388 0.042 Bursitis of shoulder 0.0001157 0.298 0.077 MAS1 rs147267209 6:159907710:A:G 6 159907710 A G 6:160328742 0.994654 954 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other soft tissue disorders, not elsewhere classified 0.00239 -0.3969 0.1307 IGF2R rs8191808 6:160048478:C:G 6 160048478 C G 6:160469510 0.994369 1818 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peripheral angiopathy 0.000315 3.8989 1.0821 Suppurative and unspecified otitis media 7.964e-05 6.099 1.546 IGF2R rs76130099 6:160080143:G:A 6 160080143 G A 6:160501175 0.973623 2830 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic tubulo-interstitial nephritis 0.000351 1.4278 0.3994 Benign neoplasm of other and ill-defined parts of digestive system 0.0009157 10.562 3.186 SLC22A1 rs113569197 6:160139865:CTGGTAAGT:C 6 160139865 CTGGTAAGT C 6:160560897 0.999187 90749 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhage from respiratory passages 0.00028 -0.0834 0.0229 Diabethic neuropathy 0.0004397 -0.117 0.033 SLC22A1 rs35956182 6:160143584:G:A 6 160143584 G A 6:160564616 0.997777 7217 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neurotic, stress-related and somatoform disorders 0.000325 -0.1572 0.0437 0.0004854 -0.443 0.127 LPA rs41272114 6:160585045:C:T 6 160585045 C T 6:161006077 0.998403 16346 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Ulcerative colitis (strict definition, require KELA, min 2 HDR) 0.000475 -0.2869 0.0821 Medication related adverse effects (Asthma/COPD) 0.0004713 0.28 0.08 PLG rs73015965 6:160706469:A:G 6 160706469 A G 6:161127501 0.954301 370 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Plasminogen deficiency, type I;not provided Intestinal adhesions without obstruction 0.000124 3.8794 1.0109 Depression 0 4.726 0 PLG rs143079629 6:160707780:G:A 6 160707780 G A 6:161128812 0.857502 842 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fibrosis and chirrhosis of liver 0.00169 2.388 0.7607 PLG rs4252187 6:160716758:G:A 6 160716758 G A 6:161137790 0.969499 1586 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Colitis, primary sclerosing 0.000855 3.9062 1.1716 Other symptoms and signs involving general sensations and perceptions 0.0005851 128.821 37.465 PLG rs139071351 6:160731053:G:A 6 160731053 G A 6:161152085 0.938308 133 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of elbow 0.000461 7.7445 2.2111 PLG rs4252125 6:160731208:G:A 6 160731208 G A 6:161152240 0.99989 71964 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Poisoning by medicine 0.000173 -0.111 0.0296 Dislocation, sprain and strain of joints and ligaments of shoulder girdle 7.697e-05 0.13 0.033 PLG rs140537724 6:160731775:G:A 6 160731775 G A 6:161152807 0.900305 169 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Siatica+with lumbago 0.000247 1.8452 0.5034 PLG rs4252129 6:160731873:C:T 6 160731873 C T 6:161152905 0.976162 1012 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of meninges 0.000424 1.8242 0.5175 Delirium, not induced by alcohol and other psychoactive substances 0.0001107 24.431 6.32 MAP3K4 rs55704622 6:161091414:T:A 6 161091414 T A 6:161512446 0.966372 1537 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Use of eye-antiallergens (taken as indicator of allergic/atopic conjunctivitis) 0.000299 -0.4902 0.1356 Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.0001746 18.065 4.813 PARK2 rs55830907 6:161360169:G:A 6 161360169 G A 6:161781201 0.993005 910 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Parkinson disease 2;not provided Colitis, primary sclerosing, strict definition 0.00085 6.796 2.0371 0 2.479 0 PARK2 rs1801334 6:161360193:C:T 6 161360193 C T 6:161781225 0.985616 11587 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson disease 2;not specified Presence of other functional implants 0.00197 -0.1672 0.054 Lumbosacral root disorders, not elsewhere classified 0.0002491 7.685 2.098 PARK2 rs1801582 6:161386823:C:G 6 161386823 C G 6:161807855 0.99622 46948 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Respiratory distress of newborn 0.000722 0.7231 0.2139 Dislocation, sprain and strain of joints and ligaments of thorax 0.0004118 0.848 0.24 PARK2 rs34424986 6:161785820:G:A 6 161785820 G A 6:162206852 0.98493 0.00126297 2 462 missense_variant unknown Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vasculitis limited to skin, not elsewhere classified 8.34e-05 8.4783 2.1549 PARK2 rs1801474 6:162201165:C:T 6 162201165 C T 6:162622197 0.993055 3702 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson Disease, Juvenile;Parkinson disease 2;not specified Pain and other conditions associated with female genital organs and menstrual cycle 0.000447 0.5333 0.1519 Convergent concomitant strabismus 0.0004142 15.949 4.517 PARK2 rs55777503 6:162443378:CCT:C 6 162443378 CCT C 6:162864410 0.961445 226 pLoF unknown Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Occlusion and stenosis of arteries, not leading to stroke 0.000457 12.6204 3.6012 PDE10A rs61733392 6:165395227:G:C 6 165395227 G C 6:165808716 0.957463 1308 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Hallux valgus (acquired) 0.000544 0.5956 0.1722 Hernia 0.0005272 2.42 0.698 T rs117097130 6:166160858:G:A 6 166160858 G A 6:166574346 0.971018 4692 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Primary gonarthrosis, bilateral 0.00168 0.2722 0.0866 Palmar fascial fibromatosis [Dupuytren] 0.0007867 2.959 0.881 MPC1 rs11557064 6:166366861:G:T 6 166366861 G T 6:166780349 0.969641 1900 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Transient ischemic attack 0.000211 0.4907 0.1324 ILD, hospital admissions 3, with pneumonia sepsis 0.0001669 377.722 100.34 RNASET2 rs146590748 6:166929652:C:T 6 166929652 C T 6:167343140 0.97843 3322 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hepatic failure, not elsewhere classified 0.000588 1.5901 0.4627 0.0002211 1.058 0.287 RNASET2 rs11159 6:166929653:G:A 6 166929653 G A 6:167343141 0.978802 20216 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leukoencephalopathy, cystic, without megalencephaly Anisometropia and aniseikonia 0.00184 0.5782 0.1857 Dermatographic urticaria 0.0001628 1.638 0.434 RNASET2 rs41269593 6:166929716:C:T 6 166929716 C T 6:167343204 0.948767 0.00273553 4 1001 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Leukoencephalopathy, cystic, without megalencephaly;not provided Malignant neoplasm of meninges 4.73e-05 3.2569 0.8006 0.0003675 1.902 0.534 CCR6 rs17860852 6:167137336:C:T 6 167137336 C T 6:167550824 0.983613 0.0105012 52 3806 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of other internal prosthetic devices, implants and grafts 7.97e-05 1.9955 0.5058 Juvenile rheuma 0.0001121 23.937 6.197 UNC93A rs150440399 6:167296217:G:A 6 167296217 G A 6:167709705 0.969771 3363 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic nephritic syndrome 0.000458 1.1369 0.3244 Cellulitis 0.0001778 8.204 2.189 UNC93A rs9459921 6:167315287:G:A 6 167315287 G A 6:167728775 0.998532 68019 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 0.000267 0.293 0.0804 Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 5.037e-05 0.437 0.108 TCP10 rs140649985 6:167373198:C:T 6 167373198 C T 6:167786686 0.836474 2082 missense_variant unknown not provided not_provided no assertion provided none not provided Other disorders of patella 0.00105 0.6073 0.1853 Atherosclerosis, excluding cerebral, coronary and PAD 4.995e-05 5.646 1.392 MLLT4 rs35140809 6:167896967:A:G 6 167896967 A G 6:168297647 0.978116 8495 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Nonalcoholic fatty liver disease 0.000201 0.7086 0.1906 Perichondritis of external ear 0.0014 9.226 2.888 FRMD1 rs113624371 6:168060954:G:T 6 168060954 G T 6:168461634 0.978796 3933 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Excessive, freguent and irrelgular menstruation 0.000411 0.2461 0.0697 Other and unspecified injuries of ankle and foot 0.0001073 29.904 7.72 FRMD1 rs41266313 6:168066768:C:T 6 168066768 C T 6:168467448 0.98426 3920 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Excessive, freguent and irrelgular menstruation 0.000297 0.2511 0.0694 Other and unspecified injuries of ankle and foot 0.0001115 29.014 7.508 SMOC2 rs35849878 6:168653186:G:A 6 168653186 G A 6:169053866 0.855228 544 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anxiety disorders 0.000374 0.5863 0.1648 Retention of urine 0.002801 35.317 11.816 SMOC2 rs118133242 6:168664103:A:G 6 168664103 A G 6:169064783 0.981827 4092 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of major salivary glands 0.00155 0.6943 0.2194 Synovial cyst of popliteal space [Baker] 0.001047 9.936 3.032 THBS2 rs140852957 6:169221505:G:A 6 169221505 G A 6:169621600 0.993468 7896 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gastro-oesophageal reflux disease 0.000355 -0.1874 0.0525 Persons encountering health services for specific procedures, not carried out 0.0005167 6.096 1.756 ERMARD rs17860632 6:169755381:A:G 6 169755381 A G 6:170155477 0.982531 0.00509815 16 1857 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Follicular lymphoma 5.37e-05 2.4501 0.6066 malignant neoplasm of female genital organs (other cancers excluded from controls) 0.0003131 6.024 1.671 ERMARD rs61738268 6:169769592:A:G 6 169769592 A G 6:170169688 0.992558 8603 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Superficial injury of shoulder and upper arm 0.000793 0.4906 0.1462 Superficial injury of shoulder and upper arm 1.16e-06 5.176 1.065 ERMARD rs151283330 6:169769642:A:G 6 169769642 A G 6:170169738 0.990093 345 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of pericardium 0.000579 7.2445 2.1051 ERMARD rs143351214 6:169773331:G:A 6 169773331 G A 6:170173427 0.982709 1511 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Glaucoma, exfoliation 0.00155 1.091 0.3448 Cardiovascular diseases (excluding rheumatic etc) 0.0001125 2.049 0.531 ERMARD rs144908519 6:169776025:C:G 6 169776025 C G 6:170176121 0.99106 1524 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Generalized epilepsy 0.000969 1.0501 0.3183 General symptoms and signs 3.671e-05 2.449 0.593 ERMARD rs41265401 6:169776050:G:A 6 169776050 G A 6:170176146 0.995107 26441 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Persons encountering health services for examination and investigation 0.000719 -0.0435 0.0128 Superficial injury of shoulder and upper arm 0.0003686 0.778 0.218 ERMARD rs4716346 6:169776552:A:G 6 169776552 A G 6:170176648 0.998378 53704 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical observation and evaluation for suspected diseases and conditions 0.00101 -0.0464 0.0141 Other postsurgical states 0.0004415 0.466 0.133 ERMARD rs117593791 6:169781452:G:T 6 169781452 G T 6:170181548 0.959314 228 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of lower leg 0.00017 2.5318 0.6732 DLL1 rs934336617 6:170283474:ATGT:A 6 170283474 ATGT A 6:170592562 0.978433 0.0212527 206 7602 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation of lens 9.6e-05 1.8658 0.4784 Bulimia nervosa (incl. atypical) 1.757e-05 8.236 1.918 FAM20C rs61734970 7:195594:G:A 7 195594 G A 7:195594 0.877068 736 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Proliferative diabetic retinopathy 0.00369 1.5951 0.5493 FAM20C rs148276213 7:256004:T:A 7 256004 T A 7:295970 0.943332 0.030559 408 10819 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Raine syndrome;not specified Symptoms and signs involving the digestive system and abdomen 1.64e-05 0.0983 0.0228 Biomechanical lesions, not elsewhere classified 0.0003868 3.92 1.105 FAM20C rs150231592 7:259877:G:A 7 259877 G A 7:299843 0.925426 6260 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Frostbite 0.000629 2.0672 0.6047 0.000615 7.705 2.25 FAM20C rs62644536 7:259897:C:T 7 259897 C T 7:299863 0.956663 23435 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other diseases of intestine 0.00177 0.3026 0.0968 Ulcerative rectosigmoiditis 0.0001305 1.024 0.268 FAM20C rs36139924 7:259915:A:G 7 259915 A G 7:299881 0.971439 0.522774 101026 91035 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of urethra and urinary system 8.85e-05 -0.0566 0.0144 Failed attempted abortion 0.0001801 0.366 0.098 PRKAR1B rs61732492 7:711388:T:C 7 711388 T C 7:751025 0.970746 0.000606988 2 221 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specific joint derangements/joint disorders 4.71e-05 1.1938 0.2934 DNAAF5 rs149980915 7:729707:C:G 7 729707 C G 7:769344 0.958176 0.000892789 2 326 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of foot, except ankle 6.81e-05 2.1858 0.5488 DNAAF5 rs113374052 7:741362:C:A 7 741362 C A 7:780999 0.963568 9786 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Oher enthesopathy of foot (+metatarsalgia) 0.000141 -0.5418 0.1423 Arthropathies in other diseases classified elsewhere 0.000116 5.541 1.437 DNAAF5 rs73258248 7:763869:C:T 7 763869 C T 7:803506 0.975743 0.0124718 62 4520 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Atrial fibrillation and flutter 1.12e-05 -0.3223 0.0734 Inflammatory disorders of breast 0.0007462 12.076 3.581 DNAAF5 rs4720951 7:770582:T:C 7 770582 T C 7:810219 0.996062 0.511018 96274 91468 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Psoriatic and enteropathic arthropathies 2.29e-05 0.1727 0.0408 Polyarthritis, unspecified 3.115e-06 0.271 0.058 DNAAF5 rs3922641 7:775151:G:A 7 775151 G A 7:814788 0.997762 83057 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Supplementary factors related to causes of morbidity and mortality classified elsewhere 0.00044 -0.2715 0.0772 Seropositive rheumatoid arthritis, strict definition 0.0009148 0.122 0.037 DNAAF5 rs61755909 7:780058:A:G 7 780058 A G 7:819695 0.98822 2819 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia Crushing injury of wrist and hand 0.000103 3.5908 0.9245 Perichondritis of external ear 6.893e-06 104.568 23.253 SUN1 rs199999269 7:838955:A:G 7 838955 A G 7:878592 0.978168 979 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain and other conditions associated with female genital organs and menstrual cycle 0.000802 0.9714 0.2898 SUN1 rs144929525 7:843470:C:T 7 843470 C T 7:883107 0.825372 636 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emery-Dreifuss muscular dystrophy Allergic urticaria 0.000461 2.3165 0.6614 Cholesteatoma of middle ear 0.001109 67.299 20.637 SUN1 rs142011077 7:851463:G:T 7 851463 G T 7:891100 0.98157 2575 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emery-Dreifuss muscular dystrophy Procreative management 0.000492 0.5383 0.1545 Benign neoplasm: Oesophagus (other cancers excluded from controls) 0.001196 87.433 26.986 SUN1 rs200907784 7:869511:G:A 7 869511 G A 7:909148 0.9583 346 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute gastritis 0.000951 3.2057 0.9701 GPER1 rs117290655 7:1091742:C:T 7 1091742 C T 7:1131378 0.97016 882 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 0.000322 0.8495 0.2362 MICALL2 rs4580937 7:1438974:C:T 7 1438974 C T 7:1478610 0.996311 25139 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other acquired deformities of musculoskeletal system and connective tissue 0.000148 0.4504 0.1187 Other and unspecified myopathies 0.000647 0.901 0.264 MICALL2 rs149008569 7:1448629:G:A 7 1448629 G A 7:1488265 0.991451 6400 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Synovial cyst of popliteal space [Baker] 0.00163 0.6328 0.2009 Chronic suppurative otitis media 0.0002903 7.234 1.996 INTS1 rs187845066 7:1480441:T:C 7 1480441 T C 7:1520077 0.972409 4746 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Testicular hypofunction 0.00112 1.661 0.5095 Shoulder lesions 0.0004061 1.393 0.394 TMEM184A rs112463195 7:1547017:A:AGCC 7 1547017 A AGCC 7:1586653 0.995698 85773 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter COPD (mode) 0.000486 -0.0849 0.0243 Ptosis of eyelid 2.587e-05 -0.138 0.033 ELFN1 rs370941771 7:1744672:C:T 7 1744672 C T 7:1784308 0.926443 903 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nystagmus and other irregular eye movements 0.000945 6.3632 1.9245 Nystagmus and other irregular eye movements 0.0001071 540.346 139.486 MAD1L1 rs121908982 7:2225526:G:A 7 2225526 G A 7:2265161 0.991304 1106 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Other and unspecified diseases of blood and blood-forming organs 0.00011 4.7877 1.2381 SNX8 rs117886084 7:2278299:G:A 7 2278299 G A 7:2317934 0.922797 1091 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiovascular diseases 0.000416 -0.2785 0.0789 Malignant neoplasm of liver and intrahepatic bile ducts 0.0001769 379.264 101.139 LFNG rs71647813 7:2526884:G:A 7 2526884 G A 7:2566518 0.969651 528 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Symptoms and signs involving the skin and subcutaneous tissue 0.000883 0.7323 0.2202 Leiomyoma of uterus 0 4.346 0 BRAT1 rs61729932 7:2538182:G:A 7 2538182 G A 7:2577816 0.943431 1098 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Rigidity and multifocal seizure syndrome, lethal neonatal;not provided Superficial injury of forearm 0.000313 1.7934 0.4976 0.0005755 -1.423 0.413 BRAT1 rs145833100 7:2538494:C:T 7 2538494 C T 7:2578128 0.957078 370 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Synovial hypertrophy, not elsewhere classified 0.000901 10.2526 3.0884 BRAT1 rs138077616 7:2538673:C:T 7 2538673 C T 7:2578307 0.943519 1031 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rigidity and multifocal seizure syndrome, lethal neonatal Convergence insufficiency and excess 0.000125 5.9332 1.5468 Other disorders of binocular vision 0.0003932 136.422 38.487 BRAT1 rs56727079 7:2538737:G:A 7 2538737 G A 7:2578371 0.998004 0.0468224 736 16466 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intracranial injury 8.55e-05 -0.1582 0.0403 Other sleepdisorders 0.0005413 1.324 0.383 BRAT1 rs61740320 7:2539223:C:T 7 2539223 C T 7:2578857 0.951492 5924 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rigidity and multifocal seizure syndrome, lethal neonatal Abdominal and pelvic pain 0.000348 -0.1184 0.0331 Convergence insufficiency and excess 0.0001758 23.272 6.203 BRAT1 rs200932983 7:2539256:C:T 7 2539256 C T 7:2578890 0.987567 854 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seropositive rheumatoid arthritis, strict definition 0.0014 1.8272 0.5718 BRAT1 rs150942467 7:2542173:A:C 7 2542173 A C 7:2581807 0.968123 0.00716681 30 2603 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rigidity and multifocal seizure syndrome, lethal neonatal;not provided Fracture of foot, except ankle 9.77e-05 0.6602 0.1694 Kela-cod for severe mental illness 0.0009192 3.561 1.074 BRAT1 rs140451075 7:2543261:C:G 7 2543261 C G 7:2582895 0.94836 2232 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rigidity and multifocal seizure syndrome, lethal neonatal;not provided Hereditary corneal dystrophies 0.000348 2.4757 0.6922 Medical observation and evaluation for suspected diseases and conditions 7.524e-05 2.396 0.605 BRAT1 rs77213198 7:2543273:C:T 7 2543273 C T 7:2582907 0.996163 0.0467707 736 16447 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rigidity and multifocal seizure syndrome, lethal neonatal;not provided Intracranial injury 8.7e-05 -0.1584 0.0404 Other sleepdisorders 0.0005234 1.332 0.384 IQCE rs61736920 7:2571607:G:A 7 2571607 G A 7:2611241 0.987674 0.0879914 2898 29429 missense_variant recessive not provided not_provided no assertion provided none Macular cyst 1.64e-05 1.0318 0.2394 Macular cyst 4.99e-05 2.778 0.685 CARD11 rs147687933 7:2930015:T:G 7 2930015 T G 7:2969649 0.984255 0.00568881 16 2074 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter B-cell expansion with NFKB and T-cell anergy;Immunodeficiency 11;not specified Inflammation of lacrimal passages (acute and unspecified) 7.49e-05 3.7856 0.9559 Mixed hyperlipidaemia 0.002462 38.851 12.83 SDK1 rs34775958 7:3951025:C:T 7 3951025 C T 7:3990657 0.967868 234 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic pulmonary fibrosis (attempt to specificity) 0.00199 5.0095 1.6206 SDK1 rs150503747 7:3962677:C:G 7 3962677 C G 7:4002309 0.97686 4083 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Cutaneous abscess, furuncle and carbuncle 0.000191 -0.5073 0.136 Malignant neoplasm of eye, brain and central nervous system (other cancers excluded from controls) 0.001643 8.294 2.634 SDK1 rs36103726 7:3974407:C:T 7 3974407 C T 7:4014039 0.979368 1694 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter COPD, hospital admissions 0.000353 0.5901 0.1652 Unspecified haematuria 0.0002479 10.879 2.969 AP5Z1 rs11549839 7:4781669:C:G 7 4781669 C G 7:4821300 0.995082 0.00711782 34 2581 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spastic paraplegia 48, autosomal recessive;not specified Benign neoplasm: Rectum (other cancers excluded from controls) 6.05e-05 0.926 0.2309 Asthma and opportunit respiratory infection 7.089e-05 29.906 7.527 AP5Z1 rs200490093 7:4781701:C:T 7 4781701 C T 7:4821332 0.983441 448 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oesophageal obstruction 0.000255 6.5248 1.7839 AP5Z1 rs11549840 7:4781721:G:C 7 4781721 G C 7:4821352 0.995017 0.00715592 34 2595 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spastic paraplegia 48, autosomal recessive;not specified Benign neoplasm: Rectum (other cancers excluded from controls) 6.84e-05 0.9152 0.2298 Asthma and opportunit respiratory infection 7.089e-05 29.906 7.527 AP5Z1 rs191971593 7:4783430:G:A 7 4783430 G A 7:4823061 0.992266 1164 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia 48, autosomal recessive;not specified Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.000497 0.4191 0.1204 Cleft lip and cleft palate 0.0003613 190.678 53.459 AP5Z1 rs201862383 7:4784252:C:T 7 4784252 C T 7:4823883 0.901454 145 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other mental disorders due to brain damage and dysfunction and to physical disease 0.000764 5.5701 1.655 AP5Z1 rs554060393 7:4784955:A:C 7 4784955 A C 7:4824586 0.891552 0.000685923 0 252 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dystonia 1.38e-05 7.2086 1.6581 AP5Z1 rs199760184 7:4784991:C:T 7 4784991 C T 7:4824622 0.81538 0.000323908 0 119 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other disorders of white blood cells 5.76e-05 13.0656 3.2481 AP5Z1 rs200957609 7:4784998:G:A 7 4784998 G A 7:4824629 0.953655 3106 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia 48, autosomal recessive;not provided Foreign body in respiratory tract 0.000552 1.2812 0.3709 Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.0004442 3.674 1.046 AP5Z1 rs11772411 7:4785676:T:A 7 4785676 T A 7:4825307 0.995466 16629 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic Paraplegia, Recessive;not specified Polyuria 0.000806 -0.2262 0.0675 Ankylosing hyperostosis [Forestier] 9.906e-05 5.932 1.524 AP5Z1 rs77890266 7:4788228:G:A 7 4788228 G A 7:4827859 0.980122 0.0072893 36 2642 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia 48, autosomal recessive;not specified Benign neoplasm: Rectum (other cancers excluded from controls) 9.51e-05 0.8905 0.2282 Asthma and opportunit respiratory infection 7.912e-05 28.442 7.206 AP5Z1 rs61750324 7:4790698:C:T 7 4790698 C T 7:4830329 0.971368 239 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sequelae of infectious and parasitic diseases 0.000878 3.7615 1.1306 AP5Z1 rs11766611 7:4790832:G:A 7 4790832 G A 7:4830463 0.938199 0.0292606 290 10460 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spastic paraplegia 48, autosomal recessive;not specified Vitamin deficiency 7.12e-05 0.8274 0.2083 Male infertility 0.0003496 4.029 1.127 SLC29A4 rs144364439 7:5297082:C:T 7 5297082 C T 7:5336713 0.975625 0.017951 152 6443 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility, tubal origin 6.89e-05 0.9534 0.2396 0.002686 6.549 2.182 TNRC18 rs199955791 7:5309136:C:T 7 5309136 C T 7:5348767 0.992918 0.00411282 8 1503 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bacterial pneumonia, not elsewhere classified 8.38e-05 0.6232 0.1584 Other noninfective disordersof lymphatic vessels and lymph nodes 0.001022 82.635 25.16 TNRC18 rs191307109 7:5313818:G:C 7 5313818 G C 7:5353449 0.994833 5649 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adjustment and management of implanted device 0.00228 0.4747 0.1556 Fracture at wrist and hand level 9.242e-05 2.36 0.604 TNRC18 rs199588962 7:5316000:G:A 7 5316000 G A 7:5355631 0.958762 208 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic conjunctivitis 0.00047 7.8114 2.2337 TNRC18 rs191441128 7:5332995:G:C 7 5332995 G C 7:5372626 0.93372 975 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other prurigo 0.000648 7.1255 2.0892 TNRC18 rs202192065 7:5362801:C:T 7 5362801 C T 7:5402432 0.969751 0.00702255 26 2554 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Biliary chirrosis, primary 7.71e-05 3.0099 0.7614 Traumatic subarachnoid haemorrhage 0.002267 39.349 12.889 RNF216 rs141050143 7:5741163:G:A 7 5741163 G A 7:5780794 0.942265 135 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Arthropathy in ulcerative colitis 0.000971 22.3054 6.7617 PMS2 rs1805324 7:5986899:C:T 7 5986899 C T 7:6026530 0.995668 15096 missense_variant recessive Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;not specified Symptoms and signs concerning food and fluid intake 0.000452 0.3941 0.1123 Benign neoplasm of other and ill-defined parts of digestive system (other cancers excluded from controls) 0.0004092 1.58 0.447 PMS2 rs1805318 7:5986976:T:A 7 5986976 T A 7:6026607 0.988934 1410 missense_variant recessive Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Benign neoplasm: Connective and other soft tissue of lower limb, including hip 0.000544 3.0323 0.8768 PMS2 rs63750668 7:5987077:C:A 7 5987077 C A 7:6026708 0.978236 0.00836718 36 3038 missense_variant recessive Likely benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Lynch syndrome I;not provided;not specified Interstitial lung disease 4.85e-05 0.9168 0.2257 0.0006988 -0.914 0.269 PMS2 rs2228006 7:5987144:T:C 7 5987144 T C 7:6026775 0.995044 48272 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inguinal hernia, bilateral 0.000133 -0.2223 0.0582 Inguinal hernia, bilateral 0.0002343 -0.122 0.033 PMS2 rs2228007 7:5987234:T:C 7 5987234 T C 7:6026865 0.984052 17368 missense_variant recessive Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;not specified Benign neoplasm of other and unspecified sites 0.00121 0.5713 0.1765 Unspesified kidney failure 0.0004721 1.594 0.456 PMS2 rs1805323 7:5987311:G:T 7 5987311 G T 7:6026942 0.997163 0.0845292 2560 28495 missense_variant recessive Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;not specified Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 2.94e-05 0.3954 0.0946 Acute peritonitis 6.789e-05 1.099 0.276 PMS2 rs63750685 7:5987328:G:C 7 5987328 G C 7:6026959 0.972176 4230 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;not provided;not specified Non-invasive ventilation 0.000101 1.6558 0.4258 Diseases of the skin and subcutaneous tissue 0.0002056 0.901 0.243 PMS2 rs1805321 7:5987357:G:A 7 5987357 G A 7:6026988 0.99464 83045 missense_variant recessive Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Bacterial meningitis 0.000301 -0.2556 0.0707 Hyperkinetic disorders (excl. ADHD) 0.0001727 0.462 0.123 PMS2 rs200313585 7:6004042:G:C 7 6004042 G C 7:6043673 0.969867 1819 missense_variant recessive Likely benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Lynch syndrome;not provided;not specified Generalized epilepsy, strict edfinition 0.00052 1.1527 0.3322 Generalized epilepsy, mode (most common among epilepsy diagnosis) 6.023e-06 88.26 19.502 PMS2 rs10254120 7:6005996:C:T 7 6005996 C T 7:6045627 0.99851 0.092861 3176 30940 missense_variant recessive Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Lynch syndrome I;not provided;not specified Non-small cell lung cancer, squamous 3.54e-05 0.6175 0.1493 Procedures for purposes other than remedying health state 4.351e-05 1.61 0.394 PMS2 rs63750123 7:6006003:T:C 7 6006003 T C 7:6045634 0.965585 10675 missense_variant recessive Likely benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary nonpolyposis colon cancer;Hereditary nonpolyposis colorectal cancer type 4;Lynch syndrome;Lynch syndrome I;not provided;not specified Other disorders of kidney and ureter 0.000793 0.4155 0.1238 Other noninflammatory disorders of uterus, except cervix 0.0003199 1.149 0.319 DAGLB rs139753251 7:6410163:A:G 7 6410163 A G 7:6449794 0.990309 6328 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of urinary organs 0.000126 -0.5186 0.1353 Residual foreign body in soft tissue 0.0004258 7.113 2.019 GRID2IP rs61732374 7:6510953:G:A 7 6510953 G A 7:6550584 0.958214 0.0131224 86 4735 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the elbow and forearm 2.35e-06 0.3055 0.0647 Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 0.001734 1.49 0.476 THSD7A rs61996274 7:11593489:C:T 7 11593489 C T 7:11633116 0.95984 669 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic ketoacidosis 0.000192 1.2077 0.3239 Vascular dementia (multiple infarctations) 0.003431 24.662 8.428 AGMO rs370025027 7:15561784:T:TAA 7 15561784 T TAA 7:15601409 0.990897 5938 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary ataxia 0.000516 2.0019 0.5765 Pyogenic granuloma 0.0003895 16.706 4.71 ISPD rs185594460 7:16258455:G:T 7 16258455 G T 7:16298080 0.987034 458 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Cranial nerves (other cancers excluded from controls) 0.00267 4.608 1.5343 ISPD rs61734789 7:16406188:G:A 7 16406188 G A 7:16445813 0.998024 9103 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Muscular Dystrophy, alpha-dystroglycan related;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7;not specified Fracture of shoulder and upper arm 0.000932 0.2267 0.0685 Hyperplasia of prostate 2.422e-05 1.066 0.253 ISPD rs7782939 7:16421268:T:G 7 16421268 T G 7:16460893 0.99665 78081 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter AV-block 0.00044 0.1367 0.0389 Respiratory and cardiovascular disorders specific to the perinatal period 0.0001847 0.58 0.155 SOSTDC1 rs554609300 7:16462576:CT:C 7 16462576 CT C 7:16502201 0.996141 5749 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicalgia 0.000109 0.4384 0.1133 Corneal ulcer 0.0001054 3.861 0.996 HDAC9 rs138163349 7:18954219:T:C 7 18954219 T C 7:18993842 0.98398 1326 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis 0.000348 0.6287 0.1758 DNAH11 rs2285943 7:21543345:G:T 7 21543345 G T 7:21582963 0.999002 89876 pLoF recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autoimmune diseases related-to ILD 0.000619 0.0433 0.0127 Monoarthritis, not elsewhere classified 0.0004067 0.207 0.059 DNAH11 rs2285944 7:21543346:A:T 7 21543346 A T 7:21582964 0.999002 89876 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autoimmune diseases related-to ILD 0.000619 0.0433 0.0127 Monoarthritis, not elsewhere classified 0.0004067 0.207 0.059 DNAH11 rs772913999 7:21543583:C:A 7 21543583 C A 7:21583201 0.965996 0.000386512 0 142 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectosigmoid junction (other cancers excluded from controls) 2.81e-05 16.1296 3.8515 DNAH11 rs201793112 7:21558875:A:T 7 21558875 A T 7:21598493 0.910896 253 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contraceptive management 0.000374 1.1375 0.3197 DNAH11 rs72655972 7:21558882:A:G 7 21558882 A G 7:21598500 0.990799 205 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persistent delusional disorders 0.00138 2.9613 0.9259 DNAH11 rs117064287 7:21558946:A:G 7 21558946 A G 7:21598564 0.995307 0.0141404 72 5123 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified conjunctival degenerations and deposits 5.69e-05 1.7151 0.4261 Prepatellar bursitis 0.0001008 10.157 2.612 DNAH11 rs72655982 7:21570073:C:T 7 21570073 C T 7:21609691 0.999899 13841 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Personal history of certain other diseases 0.000429 1.2235 0.3474 Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 0.002684 -0.506 0.169 DNAH11 rs72655987 7:21581991:T:A 7 21581991 T A 7:21621609 0.999534 2829 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Maltreatment syndromes 0.000123 1.5515 0.404 Malignant neoplasm of cervix uteri (other cancers excluded from controls) 0.0008665 10.308 3.095 DNAH11 rs72655988 7:21582013:G:A 7 21582013 G A 7:21621631 0.999952 13839 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Personal history of certain other diseases 0.000456 1.2132 0.3461 Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 0.002018 -0.509 0.165 DNAH11 rs12670130 7:21588579:A:G 7 21588579 A G 7:21628197 0.997396 40511 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of mineral metabolism 0.000527 0.2861 0.0825 Other diseases of appendix 0.002513 1.236 0.409 DNAH11 rs62441683 7:21588624:C:G 7 21588624 C G 7:21628242 0.997668 39713 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of mineral metabolism 0.00119 0.2697 0.0832 Other diseases of appendix 0.001929 1.318 0.425 DNAH11 rs72657303 7:21600720:G:T 7 21600720 G T 7:21640338 0.954416 1437 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Other facial nerve disorders 0.000425 3.0131 0.8551 0.0002367 16.861 4.587 DNAH11 rs10269582 7:21600743:T:C 7 21600743 T C 7:21640361 0.99521 91315 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Undescended testicle 0.000595 -0.4849 0.1412 Superficial injury of abdomen, lower back and pelvis 7.713e-05 0.124 0.031 DNAH11 rs10224537 7:21600787:A:G 7 21600787 A G 7:21640405 0.998874 49626 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hordeolum and other deep inflammation of eyelid 0.000456 -0.3154 0.09 Hordeolum and other deep inflammation of eyelid 0.0003774 -0.182 0.051 DNAH11 rs143830019 7:21601604:T:C 7 21601604 T C 7:21641222 0.993277 0.00280358 2 1028 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Guillain-Barre syndrome 1.26e-05 7.1566 1.6389 DNAH11 rs17144835 7:21639025:A:G 7 21639025 A G 7:21678643 0.999403 14025 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Crohn disease ( strict definition, require KELA, min 2 HDR) 0.000522 0.5496 0.1584 Hallux rigidus 0.0009236 1.074 0.324 DNAH11 rs531475386 7:21658846:C:T 7 21658846 C T 7:21698464 0.827139 0.000228641 0 84 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Alcoholic gastritis 3.86e-05 28.2161 6.8556 DNAH11 rs201257328 7:21658969:A:G 7 21658969 A G 7:21698587 0.983116 0.00103161 0 379 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Failed attempted abortion 5.78e-05 13.582 3.3773 DNAH11 rs68023059 7:21735751:G:A 7 21735751 G A 7:21775369 0.960451 0.0223878 186 8039 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 4.28e-05 0.2332 0.057 Viral pneumonia (unknown virus, not influenza) 0.0004847 7.843 2.248 DNAH11 rs2003417 7:21738811:T:C 7 21738811 T C 7:21778429 0.975183 15292 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Ulcerative proctitis 0.000349 -0.5006 0.14 Dislocation, sprain and strain of joints and ligaments at wrist and hand level 0.0001582 0.846 0.224 DNAH11 rs9639393 7:21739660:A:G 7 21739660 A G 7:21779278 0.998495 0.640399 150856 84419 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyuria 9.79e-05 -0.1165 0.0299 Polyuria 0.0002278 -0.076 0.021 DNAH11 rs121908854 7:21748602:C:G 7 21748602 C G 7:21788220 0.983082 173 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chondrocostal junction syndrome [Tietze] 0.000636 11.4711 3.3583 DNAH11 rs201501951 7:21748641:G:A 7 21748641 G A 7:21788259 0.98319 221 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Polycythaemia vera 0.000145 10.9856 2.8917 DNAH11 rs35865357 7:21765477:G:A 7 21765477 G A 7:21805095 0.944302 0.00779557 34 2830 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified Certain infectious and parasitic diseases 9.26e-05 0.1782 0.0456 Fracture of lower leg, including ankle 0.001157 2.663 0.82 DNAH11 rs181785201 7:21779070:G:A 7 21779070 G A 7:21818688 0.963542 577 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia Chronic hepatitis, not elsewhere classified 0.000588 4.2077 1.2243 Chronic hepatitis, not elsewhere classified 0.0008852 93.199 28.033 DNAH11 rs72657389 7:21789251:A:T 7 21789251 A T 7:21828869 0.985099 2578 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not provided;not specified Atopic conjunctivitis 0.00078 1.4574 0.4338 Disorders of the thyroid gland 0.0001376 2.054 0.539 DNAH11 rs2214326 7:21816533:G:A 7 21816533 G A 7:21856151 0.999309 84929 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyuria 0.000146 0.1136 0.0299 Other and unspecified glaucoma 0.0005731 0.232 0.067 DNAH11 rs34879202 7:21842591:G:A 7 21842591 G A 7:21882209 0.939914 1580 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Other specific arthropathies 0.000244 3.1011 0.8453 Achalasia of cardia 0.0009325 79.433 23.997 DNAH11 rs4722064 7:21854375:G:T 7 21854375 G T 7:21893993 0.998201 85346 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified diabetes with multiple/unspecified complications 0.000311 0.2817 0.0781 Unspecified haematuria 0.0004966 0.053 0.015 DNAH11 rs182389910 7:21861883:G:A 7 21861883 G A 7:21901501 0.994314 1293 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not provided;not specified Inguinal hernia, bilateral 0.000508 1.4085 0.4052 Gonarthrosis 0 2.611 0 DNAH11 rs17145720 7:21861922:T:C 7 21861922 T C 7:21901540 0.998517 7228 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Barret oesophagus 0.000251 1.0877 0.2971 Fracture of lumbar spine and pelvis 0.0002645 2.423 0.664 DNAH11 rs121908855 7:21880869:C:G 7 21880869 C G 7:21920487 0.937404 271 pLoF recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Undefined dementia 0.000192 3.8935 1.0439 DNAH11 rs6461613 7:21884396:A:G 7 21884396 A G 7:21924014 0.994428 43796 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia due to Parkinsons disease 0.000808 -0.4559 0.1361 Hypertrophy of breast 0.0002631 -0.103 0.028 DNAH11 rs12537531 7:21892426:C:T 7 21892426 C T 7:21932044 0.995959 0.460853 78394 90918 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of ovaries, fallopian tubes and broad ligaments 3.27e-06 0.277 0.0595 Congenital malformations of ovaries, fallopian tubes and broad ligaments 1.764e-05 0.222 0.052 DNAH11 rs142585703 7:21892549:C:T 7 21892549 C T 7:21932167 0.979804 0.000372903 0 137 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Habitual aborter 9.7e-05 20.7381 5.3201 DNAH11 rs72658825 7:21894893:G:A 7 21894893 G A 7:21934511 0.995493 5469 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Abnormal findings on antenatal screening of mother 0.000574 0.7981 0.2318 Traumatic subarachnoid haemorrhage 0.0005975 13.49 3.93 DNAH11 rs143362381 7:21901198:G:A 7 21901198 G A 7:21940816 0.996325 7881 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Hyperkalaemia 0.000262 0.9283 0.2543 Benign neoplasm of brain and other parts of central nervous system 0.0007596 3.347 0.994 DNAH11 rs77448980 7:21901205:A:G 7 21901205 A G 7:21940823 0.997851 21916 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Conduct disorder 0.000793 0.6016 0.1793 All-cause Heart Failure 0.0002421 0.262 0.071 IL6 rs2069860 7:22731419:A:T 7 22731419 A T 7:22771038 0.984882 3388 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to social environment 0.000142 1.8729 0.4923 Congenital malformations of eye, ear, face and neck 0.0006331 12.776 3.739 FAM126A rs183608311 7:23014007:C:T 7 23014007 C T 7:23053626 0.989943 9993 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypomyelination and Congenital Cataract Mental and behavioural disorders due to alcohol, excluding acute intoxication 0.000349 0.1881 0.0526 0.0003136 1.264 0.351 KLHL7 rs17147682 7:23117963:A:G 7 23117963 A G 7:23157582 0.995717 1415 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hallux valgus (acquired) 0.00019 -0.6044 0.1619 GPNMB rs140122424 7:23246910:C:T 7 23246910 C T 7:23286529 0.992675 1790 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhage in early pregnancy 0.000266 0.8177 0.2243 Benign neoplasm: Bronchus and lung 0.0008474 95.639 28.662 GPNMB rs35878037 7:23274119:C:A 7 23274119 C A 7:23313738 0.976659 53 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degenerative macular diseases 0.000129 10.298 2.6901 GPNMB rs11537976 7:23274204:G:T 7 23274204 G T 7:23313823 0.997483 22267 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.00108 0.6634 0.203 Family history of certain disabilities and chronic diseases leading to disablement 0.0007902 1.614 0.481 NPY rs16139 7:24285260:T:C 7 24285260 T C 7:24324879 0.997852 22401 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria NEUROPEPTIDE Y POLYMORPHISM Oesophageal obstruction 0.000274 0.5721 0.1572 Chronic rhinitsi, nasopharyngitis and pharyngitis 0.0003803 0.453 0.128 DFNA5 rs71535705 7:24702818:G:A 7 24702818 G A 7:24742437 0.998771 9612 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Mixed;not specified Other neurological diseases 0.000405 -0.1652 0.0467 Other disorders of urethra and urinary system 0.0004879 0.634 0.182 DFNA5 rs200758965 7:24710374:G:A 7 24710374 G A 7:24749993 0.958859 1283 pLoF unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Type of accident 0.00127 3.4804 1.0802 0.002501 42.023 13.9 DFNA5 rs12540919 7:24717332:C:T 7 24717332 C T 7:24756951 0.994466 29262 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Mixed;not specified Type 2 diabetes, wide definition 0.00048 -0.0907 0.026 Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 1.262e-05 0.31 0.071 DFNA5 rs754554 7:24719199:G:T 7 24719199 G T 7:24758818 0.997783 53777 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other external causes of accidental injury 0.000481 0.1888 0.0541 Hyphaema and other vascular disorders of iris and ciliary body 0.0004932 0.876 0.251 HOXA1 rs45571645 7:27095477:G:T 7 27095477 G T 7:27135096 0.986048 15518 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Athabaskan brainstem dysgenesis;Bosley-Salih-Alorainy syndrome;History of neurodevelopmental disorder;Microtia, hearing impairment, and cleft palate Presbyopia 0.000186 0.6581 0.1761 Benign neoplasm: Skin of trunk 0.0003189 2.406 0.668 CPVL rs147771477 7:28995812:C:T 7 28995812 C T 7:29035428 0.89045 832 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other external causes of accidental injury 0.000394 1.7345 0.4894 CPVL rs147204083 7:29121048:A:G 7 29121048 A G 7:29160664 0.947015 1723 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain associated with micturition 0.000269 1.2801 0.3513 Benign neoplasm: Skin of other and unspecified parts of face 0.001229 27.304 8.448 WIPF3 rs61750795 7:29888073:G:A 7 29888073 G A 7:29927689 0.97208 2119 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications associated with artificial fertilization 0.000539 3.0556 0.883 Other skin changes 0.0003326 6.994 1.949 FKBP14 rs542489955 7:30019110:T:TG 7 30019110 T TG 7:30058726 0.933672 287 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contusion of toe(s) without damage to nail 0.00054 10.316 2.9814 GARS rs62636572 7:30594932:C:T 7 30594932 C T 7:30634548 0.985411 11117 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;Distal spinal muscular atrophy;Peripheral axonal neuropathy;not provided;not specified Other and unspecified trigeminal disorders 0.000149 1.3057 0.3442 Visual field defects 0.0001467 2.787 0.734 GARS rs1049402 7:30595045:C:G 7 30595045 C G 7:30634661 0.998379 74042 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acohol-induced acute pancreatitis 0.000198 -0.3189 0.0857 Acohol-induced acute pancreatitis 3.906e-05 -0.224 0.054 GARS rs2230310 7:30609652:C:T 7 30609652 C T 7:30649268 0.988193 1588 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;Distal spinal muscular atrophy;Peripheral axonal neuropathy;not provided;not specified Carpal tunnel syndrome 0.000547 -0.4427 0.1281 Dyshidrosis [pompholyx] 0.00187 49.393 15.882 GARS rs181912750 7:30628584:T:C 7 30628584 T C 7:30668200 0.989723 0.00658704 26 2394 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Charcot-Marie-Tooth disease, type 2 Thyroiditis, unspecified 1.18e-05 3.9243 0.8957 Other and unspecified injuries of wrist and hand 4.858e-05 41.237 10.151 CRHR2 rs77113016 7:30653465:C:T 7 30653465 C T 7:30693081 0.991993 0.0125045 46 4548 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other peripheral vascular diseases 6.61e-05 0.9635 0.2415 Abnormal findings in secretions and smears from cervix uteri vagina vulva 0.0004255 2.668 0.757 INMT rs61741736 7:30755850:G:C 7 30755850 G C 7:30795466 0.959746 10772 stop_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arterial embolism and thrombosis 0.000615 0.6113 0.1785 Unspecified dementia 9.898e-06 3.604 0.815 AQP1 rs28362692 7:30912043:C:T 7 30912043 C T 7:30951658 0.984105 13121 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria COLTON BLOOD GROUP POLYMORPHISM Other inflammatory liver diseases 0.000252 -0.5327 0.1455 Benign neoplasm: Skin of other and unspecified parts of face 0.0001966 1.593 0.428 GHRHR rs4988496 7:30969071:G:A 7 30969071 G A 7:31008686 0.979472 6922 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic growth hormone deficiency;Isolated Growth Hormone Deficiency;not specified Immunodeficiency with predominantly antibody defects 0.000251 1.2408 0.3389 Mixed disorders of conduct and emotions (more controls excluded) 0.0001747 20.565 5.48 GHRHR rs4988498 7:30969961:G:T 7 30969961 G T 7:31009576 0.980091 6916 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic growth hormone deficiency;Isolated Growth Hormone Deficiency Immunodeficiency with predominantly antibody defects 0.000253 1.2392 0.3387 Mixed disorders of conduct and emotions (more controls excluded) 0.0001754 20.537 5.473 GHRHR rs740336 7:30972062:C:T 7 30972062 C T 7:31011677 0.990004 0.00442312 8 1617 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic growth hormone deficiency;Isolated Growth Hormone Deficiency Other specified disorders of external ear 5.51e-05 2.6085 0.6468 Cervical root disorders 0.0006165 125.404 36.622 GHRHR rs2228078 7:30979237:T:C 7 30979237 T C 7:31018852 0.985832 4101 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Isolated Growth Hormone Deficiency;not specified Statin medication 0.000124 -0.1778 0.0463 Pregnancy examination and test 0.00173 3.749 1.196 PPP1R17 rs36047130 7:31692470:T:G 7 31692470 T G 7:31732084 0.957764 2809 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Polyp of the female genital tract 0.000792 0.3688 0.1099 Calcaneal spur 0.00369 26.479 9.12 PDE1C rs148606596 7:31753535:C:T 7 31753535 C T 7:31793149 0.955099 7558 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorder of lipoprotein metabolism, unspecified 0.000466 0.4761 0.136 Acute renal failure 2.569e-05 3.835 0.911 PDE1C rs61736729 7:31816011:C:G 7 31816011 C G 7:31855625 0.893448 1030 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of eyelid, including canthus 0.00124 1.171 0.3625 NT5C3A rs144452782 7:33022082:T:G 7 33022082 T G 7:33061694 0.984721 177 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Nonalcoholic fatty liver disease 0.000158 7.5261 1.992 RP9 rs553265417 7:33095235:CA:C 7 33095235 CA C 7:33134847 0.985682 2881 LC dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant;not provided;not specified Perichondritis of external ear 0.000906 2.4075 0.7255 Third [oculomotor] nerve palsy 0.0005865 132.334 38.494 RP9 rs150987618 7:33095271:T:C 7 33095271 T C 7:33134883 0.987816 62200 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amenorrhoea 0.00025 -0.2153 0.0588 Persons encountering health services in circumstances related to reproduction 0.0002844 0.063 0.017 BBS9 rs149790873 7:33273076:C:T 7 33273076 C T 7:33312688 0.931064 159 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dislocation of lens 0.00215 14.9395 4.869 BBS9 rs61764067 7:33340944:G:A 7 33340944 G A 7:33380556 0.959207 2407 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bardet-Biedl syndrome;Bardet-Biedl syndrome 1;not specified Secondary and unspecified malignant neoplasm of lymph nodes (other cancers excluded from controls) 0.000325 1.2355 0.3437 Secondary and unspecified malignant neoplasm of lymph nodes 0.0001614 22.346 5.923 BBS9 rs138072724 7:33344585:C:T 7 33344585 C T 7:33384197 0.999406 4128 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bardet-Biedl syndrome;not provided;not specified Dialysis 0.00141 1.0312 0.3231 Trigger finger 0.0007087 5.237 1.547 BBS9 rs6974593 7:33346240:C:T 7 33346240 C T 7:33385852 0.99685 16303 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paranoid personality disorder 0.000485 -0.7188 0.206 Paranoid personality disorder 0.0003774 -0.379 0.107 BBS9 rs11773504 7:33349101:G:A 7 33349101 G A 7:33388713 0.998488 61257 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute appendicitis 0.000728 -0.0541 0.016 Other specified/unspecified dorsopathies 0.0001396 0.468 0.123 BMPER rs144030074 7:33937289:A:G 7 33937289 A G 7:33976901 0.993455 445 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Paranoid personality disorder 0.000997 6.1464 1.8674 BMPER rs10265207 7:33970334:C:T 7 33970334 C T 7:34009946 0.991498 86133 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of external ear 0.000125 0.0949 0.0247 Myopia 0.0001875 0.158 0.042 BMPER rs147600292 7:33970343:A:T 7 33970343 A T 7:34009955 0.92171 0.000710421 0 261 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary heart disease 4.03e-05 2.4444 0.5954 BMPER rs74734392 7:34046309:G:A 7 34046309 G A 7:34085921 0.990912 11285 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diaphanospondylodysostosis Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 0.000144 0.7787 0.2049 Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 0.0007183 3.423 1.012 BMPER rs10249320 7:34086010:C:T 7 34086010 C T 7:34125622 0.920739 712 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of skin of upper limb, including shoulder (other cancers excluded from controls) 0.000229 9.1853 2.4932 NPSR1 rs324981 7:34778501:A:T 7 34778501 A T 7:34818113 0.997243 91348 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Specific development disorders of scholastic skills 0.000314 -0.2567 0.0712 Benign lipomatous neoplasm of other sites/unspecified 0.00126 0.116 0.036 ANLN rs197367 7:36406247:G:A 7 36406247 G A 7:36445856 0.996209 79463 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ischaemic Stroke, excluding all haemorrhages 0.00115 -0.0583 0.0179 Nonischemic cardiomyopathy 0.0007648 0.135 0.04 ANLN rs1190501632 7:36407740:A:ACTT 7 36407740 A ACTT 7:36447349 0.997099 85697 inframe_indel dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-small cell lung cancer, adenocarcinoma 0.000344 0.2424 0.0677 Other ulcerative colitis 0.0002962 0.216 0.06 NME8 rs2722372 7:37850665:G:A 7 37850665 G A 7:37890267 0.999708 66398 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of patella 0.000355 0.1156 0.0324 Synovial hypertrophy, not elsewhere classified 5.013e-05 0.946 0.233 NME8 rs146777129 7:37865606:A:G 7 37865606 A G 7:37905208 0.978492 272 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injury of muscle and tendon at wrist and hand level 0.00022 3.1186 0.8442 NME8 rs10250905 7:37867702:T:C 7 37867702 T C 7:37907304 0.994176 73022 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative rectosigmoiditis 0.000335 0.1911 0.0533 Trochanteric bursitis 9.795e-05 -0.113 0.029 NME8 rs62001869 7:37884315:G:A 7 37884315 G A 7:37923917 0.997235 6832 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia, primary, 6;not specified Benign neoplasm: Choroid (other cancers excluded from controls) 0.00141 -0.8883 0.2782 Injuries to the head 0.001738 0.709 0.226 NME8 rs62001870 7:37884321:T:C 7 37884321 T C 7:37923923 0.983771 12419 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia, primary, 6;not specified Vocal cord dysfunction 0.000548 0.7126 0.2062 Ovarian dysfunction 0.0002672 2.436 0.668 NME8 rs56128139 7:37894544:T:C 7 37894544 T C 7:37934146 0.995138 81589 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-allergic asthma (mode) 0.000102 0.1128 0.029 0.0002923 -0.05 0.014 POU6F2 rs80127606 7:39339832:G:T 7 39339832 G T 7:39379431 0.994323 7782 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disorders of skin and subcutaneous tissue 0.000171 0.6501 0.173 Counselling related to sexual attitude, behaviour and orientation 0.0009968 10.762 3.27 CDK13 rs17537669 7:39951707:C:G 7 39951707 C G 7:39991306 0.917748 0.0028444 6 1039 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Occupational exposure to risk-factors 8.63e-05 4.6025 1.1722 Labour and delivery complicated by intrapartum haemorrhage, not elsewhere classified 0.0005068 149.286 42.934 CDK13 rs34775357 7:39997631:C:G 7 39997631 C G 7:40037230 0.972175 1905 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol use disorder, Swedish definition 0.000107 0.458 0.1182 Disorders of lens 7.415e-05 4.144 1.046 CDK13 rs3204309 7:40093057:G:A 7 40093057 G A 7:40132656 0.980523 1898 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders starting during childhood or adolecense 5e-04 1.6553 0.4756 Fracture at wrist and hand level 0.001033 12.764 3.89 SUGCT rs202171580 7:40135015:C:T 7 40135015 C T 7:40174614 0.829337 448 missense_variant recessive Uncertain significance VUS no assertion criteria provided no_Criteria DVT of lower extremities 0.00135 1.2114 0.3781 SUGCT rs193023834 7:40180972:A:C 7 40180972 A C 7:40220571 0.908075 145 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other metabolic disorders 0.000883 4.5764 1.3762 SUGCT rs779940170 7:40316772:T:C 7 40316772 T C 7:40356371 0.966192 295 missense_variant recessive Uncertain significance VUS no assertion criteria provided no_Criteria Disorders of mineral metabolism 0.00041 4.4408 1.2568 SUGCT rs137852860 7:40459197:C:T 7 40459197 C T 7:40498796 0.974073 1725 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Glutaryl-CoA oxidase deficiency;not provided Other disorders of thyroid 0.000177 4.4594 1.1892 Abscess of external ear 0.001286 69.34 21.54 SUGCT rs192063213 7:40860388:C:T 7 40860388 C T 7:40899987 0.997966 11338 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Other abnormalities of plasma proteins 0.000388 1.5455 0.4356 Decubitus ulcer and pressure area 0.001011 3.085 0.939 GLI3 rs35364414 7:41964464:G:A 7 41964464 G A 7:42004062 0.996131 11663 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Greig cephalopolysyndactyly syndrome;Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Pallister-Hall syndrome;Polydactyly;not specified Gastrointestinal diseases 0.000513 -0.0683 0.0197 Biomechanical lesions, not elsewhere classified 0.0003026 4.366 1.208 GLI3 rs145419251 7:41964563:T:G 7 41964563 T G 7:42004161 0.992667 0.0458861 798 16060 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Greig cephalopolysyndactyly syndrome;Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Pallister-Hall syndrome;Polydactyly Acne 7.2e-05 0.4416 0.1112 Inflammatory disease of cervix uteri 0.0002014 1.806 0.486 GLI3 rs35280470 7:41965066:C:T 7 41965066 C T 7:42004664 0.996134 11662 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Greig cephalopolysyndactyly syndrome;Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Pallister-Hall syndrome;Polydactyly;not specified Gastrointestinal diseases 0.000549 -0.068 0.0197 Biomechanical lesions, not elsewhere classified 0.0002971 4.388 1.213 GLI3 rs118149040 7:41965409:G:A 7 41965409 G A 7:42005007 0.992257 1005 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Greig cephalopolysyndactyly syndrome;Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Pallister-Hall syndrome;Polydactyly;not specified Diabethic neuropathy 0.000109 1.734 0.4481 Abscess of external ear 0.0002274 293.087 79.503 GLI3 rs79049330 7:41965990:C:A 7 41965990 C A 7:42005588 0.97858 2266 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Polydactyly;not specified Abscess of Bartholin gland 0.000323 2.3737 0.6601 False labour 0.001257 6.934 2.15 GLI3 rs929387 7:41966080:G:A 7 41966080 G A 7:42005678 0.993802 81149 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sudden idiopathic hearing loss 0.000639 0.1546 0.0453 Melanocytic naevi of lower limb, including hip (other cancers excluded from controls) 0.001306 0.27 0.084 GLI3 rs62622373 7:41967603:T:C 7 41967603 T C 7:42007201 0.948245 193 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gonarthrosis [arthrosis of knee](FG) 0.000107 1.0983 0.2834 GLI3 rs140048578 7:41967782:T:C 7 41967782 T C 7:42007380 0.938227 132 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 1 diabetes with renal complications 0.000309 4.4147 1.2238 GLI3 rs121917710 7:41967848:C:T 7 41967848 C T 7:42007446 0.994995 3354 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Greig cephalopolysyndactyly syndrome;Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Pallister-Hall syndrome;Polydactyly;Postaxial polydactyly;Postaxial polydactyly, type A1/B;not provided;not specified Chronic hepatitis NAS 0.000426 2.5052 0.711 0.0002394 20.705 5.637 GLI3 rs35488756 7:42023572:C:G 7 42023572 C G 7:42063171 0.946828 990 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Greig cephalopolysyndactyly syndrome;Greig cephalopolysyndactyly syndrome;Pallister-Hall syndrome;Pallister-Hall syndrome;Polydactyly;not provided;not specified Abnormal findings in nipple discharge synovial fluid wound secretions 0.00102 5.957 1.8133 Injury of other and unspecified intrathoracic organs 0.0012 63.774 19.691 GLI3 rs201940674 7:42048605:G:A 7 42048605 G A 7:42088204 0.912116 95 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other other unspecified disorders of the circulatory system 0.000162 19.1211 5.0689 GLI3 rs846266 7:42048623:T:C 7 42048623 T C 7:42088222 0.998138 88680 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cervical disc disorders 0.000236 -0.0749 0.0204 6.528e-05 0.298 0.075 GLI3 rs146458902 7:42148252:C:T 7 42148252 C T 7:42187851 0.988718 496 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of the musculoskeletal system and connective tissue 0.000543 1.9969 0.5774 GLI3 rs768107926 7:42148321:T:C 7 42148321 T C 7:42187920 0.956994 198 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of bone and articular cartilage (other cancers excluded from controls) 0.000826 4.795 1.4339 BLVRA rs1050916 7:43791281:A:G 7 43791281 A G 7:43830880 0.960114 9982 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebrovascular diseases 0.000417 0.1528 0.0433 Vascular dementia 0.0008505 2.45 0.735 PGAM2 rs140230479 7:44062819:T:G 7 44062819 T G 7:44102418 0.905796 60 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of lower leg 0.00021 5.6349 1.5201 PGAM2 rs61756062 7:44065189:A:C 7 44065189 A C 7:44104788 0.962426 333 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of intestine 0.000975 3.2885 0.9972 PGAM2 rs140545494 7:44065411:C:T 7 44065411 C T 7:44105010 0.937037 142 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other disorders of bone density and structure 0.000122 14.3078 3.725 AEBP1 rs200193837 7:44106852:C:G 7 44106852 C G 7:44146451 0.978784 6785 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other acute viral hepatitis 0.000112 2.0601 0.5332 Other and unspecified mental retardation 0.0005404 13.539 3.913 AEBP1 rs139352566 7:44107442:C:T 7 44107442 C T 7:44147041 0.920596 0.00233268 0 857 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol abuse counselling and surveillance 1.62e-05 12.4041 2.8771 AEBP1 rs376965157 7:44108973:CTGAG:C 7 44108973 CTGAG C 7:44148572 0.963749 2349 pLoF recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Panniculitis, unspecified 0.000688 3.5823 1.0554 Spermatocele 0.001084 11.146 3.411 AEBP1 rs146344486 7:44113875:G:A 7 44113875 G A 7:44153474 0.941411 0.000751249 4 272 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other complications of surgical and medical care, not elsewhere classified 8.97e-05 5.2733 1.3463 NPC1L1 rs52815063 7:44516100:A:T 7 44516100 A T 7:44555699 0.972502 0.0142846 90 5158 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ezetimibe response;not specified Myocardial infarction, strict 6.8e-05 0.3065 0.0769 Sequelae of cerebrovascular disease 8.166e-05 2.331 0.592 NPC1L1 rs149017550 7:44539868:C:T 7 44539868 C T 7:44579467 0.988061 0.0330958 442 11717 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Statin medication 7.66e-06 -0.1221 0.0273 Endometriosis of intestine 0.0001253 9.709 2.531 DDX56 rs41279639 7:44571636:T:C 7 44571636 T C 7:44611235 0.995351 1859 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arthrosis 0.000268 0.4439 0.1218 Benign neoplasm: Short bones of lower limb (other cancers excluded from controls) 0.000581 135.034 39.25 OGDH rs2230445 7:44624507:C:T 7 44624507 C T 7:44664106 0.990692 2551 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative proctitis 0.000418 1.2787 0.3624 Ulcerative ileocolitis 0.0005143 14.333 4.127 OGDH rs151001666 7:44700168:A:T 7 44700168 A T 7:44739767 0.983665 504 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Prurigo nodularis 0.000112 7.7749 2.0128 OGDH rs2070607 7:44707979:G:A 7 44707979 G A 7:44747578 0.984611 11646 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria not provided Injuries to the head 0.000301 0.1161 0.0321 1.629e-06 0.368 0.077 CCM2 rs2107732 7:45038379:G:A 7 45038379 G A 7:45077978 0.987932 0.0723676 1988 24599 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral cavernous malformations 2;not provided;not specified Mucosal proctocolitis 1.54e-05 0.3191 0.0738 Adverse effects, not elsewhere classified 0.0003696 0.577 0.162 CCM2 rs11552377 7:45064532:G:A 7 45064532 G A 7:45104131 0.999987 0.131267 6356 41870 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertension complicating pregnancy, childbirth, and the puerperium 4.31e-05 -0.1192 0.0291 Injuries to the ankle and foot 8.469e-05 0.162 0.041 CCM2 rs2289366 7:45073522:G:A 7 45073522 G A 7:45113121 0.922567 214 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter COPD-related respiratory insufficiency 0.00157 1.4853 0.4699 CCM2 rs150428392 7:45074334:A:G 7 45074334 A G 7:45113933 0.995093 0.00967642 36 3519 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coronary revascularization (ANGIO or CABG) 4.06e-07 0.4574 0.0903 Sequelae of cerebrovascular disease 0.0001285 3.291 0.859 ADCY1 rs45444695 7:45708350:G:A 7 45708350 G A 7:45747949 0.992846 1475 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments of lumbar spine and pelvis 0.00152 2.7997 0.8829 Dystonia 0.002345 39.572 13.006 ADCY1 rs76737937 7:45713819:G:A 7 45713819 G A 7:45753418 0.972328 1693 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.000235 0.7052 0.1917 Abnormal findings in secretions and smears from cervix uteri vagina vulva 0.00017 7.643 2.033 TNS3 rs41280696 7:47291996:G:A 7 47291996 G A 7:47331594 0.94682 2976 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondyloarthritis 0.000839 0.5834 0.1747 Haemorrhage from respiratory passages 0.0004218 5.575 1.581 TNS3 rs188962919 7:47303115:G:C 7 47303115 G C 7:47342713 0.986528 0.0144452 122 5185 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the respiratory system 6.15e-05 -0.114 0.0285 Asthma and opportunit respiratory infection 0.0001253 9.381 2.446 TNS3 rs143025033 7:47396838:C:G 7 47396838 C G 7:47436435 0.883584 1104 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 0.000229 6.8947 1.8712 Wet age-related macular degeneration 0.0008491 102.625 30.76 PKD1L1 rs148356236 7:47792779:A:G 7 47792779 A G 7:47832377 0.994631 6511 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Optic neuritis 0.000462 0.9304 0.2657 0.0007589 -0.536 0.159 PKD1L1 rs116988549 7:47840546:C:T 7 47840546 C T 7:47880144 0.984353 931 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of pancreas 0.000705 2.5309 0.747 Hypertension, essential 0.006547 2.265 0.833 PKD1L1 rs146605392 7:47846924:C:T 7 47846924 C T 7:47886522 0.998706 1020 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of lung 0.000446 0.7236 0.2061 Portal vein thrombosis 0.0007242 106.466 31.497 PKD1L1 rs147417448 7:47854920:T:A 7 47854920 T A 7:47894518 0.996255 1053 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn's disease of small interstine 0.000285 2.2179 0.6113 Coronary atherosclerosis 0 3.895 0 PKD1L1 rs79519739 7:47866471:C:T 7 47866471 C T 7:47906069 0.974481 3815 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atypical mycobacterium lung infection 0.000753 2.8426 0.8436 Dorsopathies 3.207e-06 1.21 0.26 PKD1L1 rs141646493 7:47885922:C:T 7 47885922 C T 7:47925520 0.974469 727 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oher enthesopathy of foot (+metatarsalgia) 0.00196 1.7076 0.5516 PKD1L1 rs76044743 7:47885937:G:A 7 47885937 G A 7:47925535 0.985953 2647 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified and unspecified strabismus 0.000566 3.4984 1.0147 Urethral stricture 0.0005381 13.4 3.872 PKD1L1 rs146750610 7:47915452:A:G 7 47915452 A G 7:47955049 0.991369 2705 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified and unspecified strabismus 0.000654 3.4003 0.9977 Urethral stricture 0.0005409 13.373 3.865 PKD1L1 rs145088541 7:47929356:C:T 7 47929356 C T 7:47968953 0.977164 3627 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasms of connective and other soft tissue (other cancers excluded from controls) 0.00069 -0.7499 0.221 0.000111 -4.889 1.265 PKD1L1 rs142896494 7:47931110:G:A 7 47931110 G A 7:47970707 0.972277 666 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute mastoiditis 0.000177 10.1787 2.7141 ABCA13 rs200327749 7:48272603:G:C 7 48272603 G C 7:48312200 0.878985 0.000792078 2 289 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition 4.46e-05 1.9968 0.4891 ABCA13 rs181907450 7:48273126:T:G 7 48273126 T G 7:48312723 0.989806 1117 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma and opportunit respiratory infection 0.000357 2.9372 0.8228 ABCA13 rs142391487 7:48274554:C:G 7 48274554 C G 7:48314151 0.950192 697 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities 0.000572 1.0245 0.2974 ABCA13 rs78147863 7:48372190:A:C 7 48372190 A C 7:48411787 0.959332 531 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute renal failure 0.000946 1.7493 0.5291 ABCA13 rs73697164 7:48391932:C:T 7 48391932 C T 7:48431529 0.982407 73 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic ileus 0.00251 13.8774 4.5927 ABCA13 rs73694618 7:48410657:C:T 7 48410657 C T 7:48450254 0.950428 77 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic ileus 0.00279 13.2171 4.42 ABCA13 rs78634768 7:48507915:C:A 7 48507915 C A 7:48547511 0.983186 0.0143282 74 5190 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Finngen Rheumatological endpoints 1.15e-05 0.1736 0.0396 Gluteal tendinitis 0.0002608 18.705 5.123 ABCA13 rs75519473 7:48587169:A:G 7 48587169 A G 7:48626765 0.984421 347 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis 0.000153 1.19 0.3144 ZPBP rs202231065 7:50093145:C:G 7 50093145 C G 7:50132741 0.900964 0.0025586 4 936 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Counselling related to sexual attitude, behaviour and orientation 5.98e-05 9.203 2.2929 Arthropod-borne viral fevers and viral haemorrhagic fevers 0.001396 50.687 15.862 DDC rs11575542 7:50463289:C:T 7 50463289 C T 7:50530987 0.99315 0.0102562 38 3730 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of aromatic-L-amino-acid decarboxylase Ulcer of vagina/vulva 1.35e-05 3.13 0.7192 Ulcer of vagina/vulva 0.003492 29.289 10.028 DDC rs11575377 7:50504057:C:A 7 50504057 C A 7:50571755 0.983056 2618 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of carbon monoxide 0.000102 3.1837 0.8195 Other diseases of oesophagus 0.001058 9.936 3.034 DDC rs6263 7:50528202:T:C 7 50528202 T C 7:50595900 0.99759 0.05682 1332 19543 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of aromatic-L-amino-acid decarboxylase Dislocation, sprain and strain of joints and ligaments of knee 7.74e-05 -0.1273 0.0322 Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck (other cancers excluded from controls) 0.0008068 1.226 0.366 COBL rs61739178 7:51029558:G:A 7 51029558 G A 7:51097255 0.969613 2113 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of shoulder and upper arm 0.00038 3.2753 0.9217 Subjective visual disturbances 0.0006818 11.681 3.439 EGFR rs2227983 7:55161562:G:A 7 55161562 G A 7:55229255 0.999419 79332 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorder of external ear, unspecified 0.000321 0.3466 0.0963 Carcinoma in situ of skin of other and unspecified parts of face (other cancers excluded from controls) 1.159e-05 0.342 0.078 Sep-14 rs185819537 7:55844652:T:C 7 55844652 T C 7:55912345 0.986471 257 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other disorders starting during childhood or adolecense (more controls excluded) 0.000622 6.7279 1.9661 PSPH rs147304638 7:56015138:G:A 7 56015138 G A 7:56082831 0.995938 543 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Juvenile rheuma 0.0022 4.8806 1.5938 CHCHD2 rs142444896 7:56106409:G:A 7 56106409 G A 7:56174102 0.995411 0.077395 2394 26040 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Valvular operations 2.57e-06 0.0913 0.0194 Right bundle-branch block 0.0003957 1.601 0.452 ZNF727 rs199542879 7:64078166:T:C 7 64078166 T C 7:63538544 0.89643 941 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perforation of tympanic membrane 0.000645 1.6216 0.4753 ZNF107 rs77575429 7:64708051:G:A 7 64708051 G A 7:64168429 0.923491 0.00106971 2 391 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behavioural disorders (more controls excluded) 1.38e-05 12.4628 2.8666 ZNF107 rs117361085 7:64708115:G:T 7 64708115 G T 7:64168493 0.981404 0.00080841 0 297 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cystic kidney disease 1.65e-06 9.8557 2.0564 ZNF107 rs375319415 7:64708639:G:GA 7 64708639 G GA 7:64169017 0.974238 2469 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy, childbirth and the puerperium 0.000608 -0.2129 0.0621 Malnutrition 0.0006557 117.158 34.383 ZNF107 rs4717205 7:64708641:G:GAA 7 64708641 G GAA 7:64169019 0.97426 2469 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy, childbirth and the puerperium 0.000608 -0.2129 0.0621 Malnutrition 0.0006557 117.158 34.383 GUSB rs9530 7:65960907:A:G 7 65960907 A G 7:65425894 0.999925 87064 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Examination and observation for other reasons 0.00125 -0.0512 0.0159 Adverse effects, not elsewhere classified 0.0009019 -0.075 0.022 GUSB rs149606212 7:65979854:C:T 7 65979854 C T 7:65444841 0.967732 605 missense_variant recessive Uncertain significance, other VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pollen allergy 0.000354 1.4816 0.4148 ASL rs145138923 7:66081825:G:A 7 66081825 G A 7:65546812 0.936207 388 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oesophageal varices 0.00018 7.012 1.8722 ASL rs767543051 7:66082925:C:T 7 66082925 C T 7:65547912 0.856308 0.000623319 0 229 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 3.12e-05 2.798 0.6718 ASL rs28941473 7:66086751:G:A 7 66086751 G A 7:65551738 0.984874 404 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contusion of other and unspecified parts of foot 0.000212 5.1923 1.4015 ASL rs28941472 7:66089114:A:G 7 66089114 A G 7:65554101 0.856005 0.000508999 0 187 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of cervix uteri (other cancers excluded from controls) 2.53e-05 16.5817 3.9368 KCTD7 rs145238250 7:66638322:G:A 7 66638322 G A 7:66103309 0.92592 147 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Family history of malignant neoplasm 0.00155 5.363 1.6941 SBDS rs79344818 7:66988489:A:G 7 66988489 A G 7:66453476 0.998291 3875 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Shwachman syndrome;not specified Osteoporosis 0.000176 0.5598 0.1493 Fracture of lumbar spine and pelvis 0.0002642 7.215 1.978 SBDS rs113993993 7:66994210:A:G 7 66994210 A G 7:66459197 0.924324 3041 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Agenesis of permanent teeth;Aplastic anemia;Aplastic anemia, susceptibility to;Deeply set eye;Inborn genetic diseases;Microcephaly;Short stature;Shwachman syndrome;Shwachman syndrome;Splenomegaly;not provided;not specified Thyrotoxicosis, other and/or unspecified 0.00108 0.5789 0.1771 Malignant neoplasm, without specification of site 0.0007321 106.633 31.574 SBDS rs147652512 7:66995291:C:A 7 66995291 C A 7:66460278 0.81495 174 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other headache syndromes 0.000642 1.6265 0.4765 AUTS2 rs149961458 7:70118220:A:G 7 70118220 A G 7:69583206 0.972801 399 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anoxic brain damage 0.00073 10.8523 3.2127 AUTS2 rs150926322 7:70790653:G:T 7 70790653 G T 7:70255639 0.981674 0.0154605 102 5578 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Colorectal cancer 3.8e-05 0.5014 0.1217 Other nutritional anaemias 0.0001115 29.984 7.76 POM121 rs1107 7:72948424:T:C 7 72948424 T C 7:72418963 0.982034 89914 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute upper respiratory infections 0.00048 -0.0331 0.0095 Respiratory insufficiency 0.001071 -0.148 0.045 POM121 rs17145837 7:72948469:G:C 7 72948469 G C 7:72419008 0.980864 0.0324834 438 11496 stop_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain (limb, back, neck, head abdominally) 2.54e-05 0.0834 0.0198 Toxic effect of alcohol 0.0001001 5.838 1.501 MLXIPL rs72649012 7:73595675:C:T 7 73595675 C T 7:73010005 0.997427 5015 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy, childbirth and the puerperium 0.000442 -0.1446 0.0412 Benign neoplasm: Cranial nerves (other cancers excluded from controls) 0.000502 14.937 4.293 MLXIPL rs530397056 7:73597271:G:A 7 73597271 G A 7:73011601 0.852568 771 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyroiditis, unspecified 0.000371 5.9836 1.6807 MLXIPL rs200438567 7:73607324:C:T 7 73607324 C T 7:73021654 0.930466 818 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Episodal and paroxysmal disorders 0.000736 -0.3192 0.0946 ELN rs144223231 7:74035430:C:A 7 74035430 C A 7:73449760 0.831271 168 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Any gastric operation 0.000398 -0.6303 0.178 ELN rs41350445 7:74041231:C:T 7 74041231 C T 7:73455561 0.960951 307 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cutis laxa, autosomal dominant;Supravalvar aortic stenosis;not specified Mycoses 0.000345 1.8584 0.5192 0.000113 9.745 2.524 ELN rs140411170 7:74042640:T:C 7 74042640 T C 7:73456970 0.996201 2352 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cutis laxa, autosomal dominant;Supravalvar aortic stenosis;not specified Hypopituitarism 0.000334 1.3621 0.3797 Benign neoplasm: Rectum/anal canal icd-9 0.0007238 113.342 33.529 ELN rs137953195 7:74042986:G:A 7 74042986 G A 7:73457316 0.971973 515 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Gout, strict definition 0.000268 2.2166 0.6081 ELN rs2071307 7:74056384:G:A 7 74056384 G A 7:73470714 0.998258 85188 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of eyelid 0.000346 -0.0777 0.0217 Hidradenitis suppurativa 0.0009045 0.297 0.089 ELN rs782568267 7:74056436:G:A 7 74056436 G A 7:73470766 0.87273 319 pLoF dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diabetic neuropathy 0.000705 3.2298 0.9534 ELN rs370619098 7:74057387:G:A 7 74057387 G A 7:73471717 0.934042 183 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of nervous system 0.000837 6.4825 1.9406 ELN rs17855988 7:74060495:G:C 7 74060495 G C 7:73474825 0.97594 0.054011 1148 18695 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cutis laxa, autosomal dominant;Supravalvar aortic stenosis;not specified Inguinal hernia 1.28e-08 -0.1812 0.0319 Other abnormal immunological findings in serum 0.000863 3.255 0.977 ELN rs150404125 7:74063312:G:A 7 74063312 G A 7:73477642 0.982193 0.00877002 42 3180 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cutis laxa, autosomal dominant;Supravalvar aortic stenosis CR(E)ST syndrome 3.73e-05 3.3223 0.8057 Viral infections of the central nervous system 0.001039 10.393 3.169 CLIP2 rs61739991 7:74338861:C:T 7 74338861 C T 7:73753191 0.808068 40 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the eye and adnexa 0.00105 -1.2363 0.3773 GTF2IRD1 rs149209759 7:74557665:A:G 7 74557665 A G 7:73971995 0.925222 137 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erosion and ectropion of cervix uteri 0.000296 10.1477 2.804 HIP1 rs117129747 7:75553503:C:T 7 75553503 C T 7:75182802 0.989142 0.0132938 70 4814 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Obsessive-compulsive disorder 2.86e-06 1.1059 0.2363 Vitreous haemorrhage 0.0003331 6.868 1.914 POR rs201513102 7:75981102:G:C 7 75981102 G C 7:75610420 0.889947 163 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital deformities of hip 0.000142 20.4585 5.3778 POR rs17853284 7:75981558:C:T 7 75981558 C T 7:75610876 0.990935 1089 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Peripheral atherosclerosis 0.000435 0.7567 0.2151 Other prurigo 0.0004417 173.504 49.377 POR rs1057868 7:75985688:C:T 7 75985688 C T 7:75615006 0.999785 86938 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gonarthrosis 0.000116 0.0508 0.0132 Seropositive rheumatoid arthritis 9.098e-05 0.096 0.025 POR rs145782750 7:75986234:G:A 7 75986234 G A 7:75615552 0.99744 323 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ankylosing hyperostosis [Forestier] 0.000577 11.9993 3.4859 MDH2 rs6720 7:76048186:C:T 7 76048186 C T 7:75677504 0.998612 88414 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis 0.000158 0.0495 0.0131 Type 1 diabetes, strict definition 8.492e-05 0.133 0.034 MDH2 rs111879470 7:76058064:G:A 7 76058064 G A 7:75687382 0.996484 4618 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory diseases of the central nervous system 0.000298 0.7625 0.2108 Labour and delivery complicated by fetal stress [distress] 0.0001329 4.735 1.239 HSPB1 rs34957294 7:76303110:A:C 7 76303110 A C 7:75932427 0.967458 1420 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.000144 3.9065 1.0275 Other and unspecified mononeuropathies of lower limb 0.0005706 122.142 35.453 HSPB1 rs28708645 7:76303158:C:A 7 76303158 C A 7:75932475 0.991493 6816 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other headache syndromes 0.000856 -0.2276 0.0683 Unspecified abortion 6.337e-05 6.611 1.653 ZP3 rs74676082 7:76433481:G:A 7 76433481 G A 7:76062798 0.991721 3387 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 0.00075 -0.1706 0.0506 Melanocytic naevi, other sites/unspecified 0.0003976 16.325 4.61 ZP3 rs139729790 7:76433596:C:G 7 76433596 C G 7:76062913 0.97079 0.00600183 24 2181 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabethic neuropathy 4.21e-05 1.2743 0.3111 0.0001817 4.108 1.097 ZP3 rs143649134 7:76441911:A:G 7 76441911 A G 7:76071228 0.993505 25157 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of brain and other parts of central nervous system 0.000382 0.3614 0.1017 Stroke, including SAH 0.0005702 0.26 0.075 MAGI2 rs200068841 7:78160210:C:T 7 78160210 C T 7:77789527 0.994841 337 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Haemorrhagic and haematological disorders of fetus and newborn 0.000873 20.7643 6.2381 MAGI2 rs145722885 7:78194930:C:T 7 78194930 C T 7:77824247 0.81475 0.000187812 0 69 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varus deformity, not elsewhere classified 8.76e-05 60.4134 15.4018 SEMA3C rs140244551 7:80800781:A:G 7 80800781 A G 7:80430097 0.896083 990 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteoporosis 0.000386 1.1283 0.3179 Hernia of abodminal wall 1.183e-06 12.114 2.493 HGF rs5745687 7:81729735:C:T 7 81729735 C T 7:81359051 0.994515 14522 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Mixed;not specified Other meningitis 0.000359 1.1542 0.3234 0.0004758 -0.224 0.064 HGF rs150267054 7:81762824:G:A 7 81762824 G A 7:81392140 0.992413 667 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Enthesopathies of lower limb, excluding foot 0.00128 1.122 0.3484 CACNA2D1 rs35131433 7:81959300:T:G 7 81959300 T G 7:81588616 0.969593 607 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasms 0.000197 0.387 0.104 CACNA2D1 rs78086631 7:81971792:C:T 7 81971792 C T 7:81601108 0.99423 1301 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brugada syndrome;Cardiovascular phenotype;not specified Volume depletion 0.00157 1.533 0.4849 Combined immunodeficiencies 0.0001835 370.099 98.939 PCLO rs200530952 7:82950997:A:T 7 82950997 A T 7:82580313 0.954898 1462 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic thrombocytopenic purpura 0.000213 2.8208 0.7618 Helminthiases 0.0014 59.857 18.737 PCLO rs61995911 7:82955258:G:T 7 82955258 G T 7:82584574 0.979231 772 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spermatocele 0.000188 2.3414 0.627 PCLO rs61730164 7:83135077:C:T 7 83135077 C T 7:82764393 0.985884 13550 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy 0.000288 -0.2951 0.0814 Beningn neoplasm: Meninges, unspecified 0.0005711 5.947 1.726 PCLO rs200359990 7:83135484:G:A 7 83135484 G A 7:82764800 0.991434 594 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Muscle strain 0.000719 5.0412 1.4904 PCLO rs200099938 7:83155424:C:T 7 83155424 C T 7:82784740 0.971066 0.000506277 0 186 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Abnormalities of forces of labour 2.34e-05 5.135 1.2142 PCLO rs762371134 7:83155515:T:TGTG 7 83155515 T TGTG 7:82784831 0.984861 4477 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of wrist and hand 0.000535 0.3138 0.0906 Senile cataract 0.0003143 1.111 0.308 PCLO rs61744447 7:83155698:G:C 7 83155698 G C 7:82785014 0.998577 0.0337218 450 11939 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary open-angle glaucoma 4.03e-05 0.2977 0.0725 Diabetes insipidus 0.0001226 10.017 2.608 PCLO rs112144434 7:83155955:G:A 7 83155955 G A 7:82785271 0.99238 593 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 1 diabetes with neurological complications 0.000189 4.3271 1.1591 ILD, hospital admissions 3, with pneumonia sepsis 0.001096 74.482 22.815 PCLO rs61738783 7:83155988:G:A 7 83155988 G A 7:82785304 0.986722 16830 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Papulosquamous disorders 0.00179 -0.1556 0.0498 Dissociative [conversion] disorders 0.0003473 2.264 0.633 SEMA3E rs142204796 7:83367812:C:A 7 83367812 C A 7:82997128 0.956783 492 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dysphagia 0.000125 1.7186 0.4481 SEMA3E rs181129823 7:83400220:C:T 7 83400220 C T 7:83029536 0.974837 915 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mesothelioma 0.000785 6.719 2.001 SEMA3E rs192697566 7:83407172:G:T 7 83407172 G T 7:83036488 0.996907 1862 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries, of poisoning and of other consequences of external causes 0.000353 -0.6814 0.1907 Cerebrovascular diseases (FINNGEN) 0.0007918 9.25 2.756 SEMA3E rs61729612 7:83408415:C:G 7 83408415 C G 7:83037731 0.99961 0.112513 4602 36734 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diverticular disease of intestine 6.4e-05 0.0969 0.0242 Intestinal infectious diseases 0.0006563 0.124 0.036 SEMA3E rs145249878 7:83418429:G:A 7 83418429 G A 7:83047745 0.98463 216 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Perforation of tympanic membrane 0.000323 3.8956 1.0833 SEMA3A rs147436181 7:84005396:C:T 7 84005396 C T 7:83634712 0.969643 0.0123793 80 4468 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypogonadotropic hypogonadism 16 with or without anosmia;not provided;not specified Other disorders of male genital organs 4.01e-05 1.5621 0.3804 Manic episode 0.001383 5.581 1.745 SEMA3D rs117730916 7:85006867:G:T 7 85006867 G T 7:84636183 0.979746 425 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiencies 0.000434 3.9134 1.1122 SEMA3D rs141893504 7:85022533:G:T 7 85022533 G T 7:84651849 0.944613 1180 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Hirschsprung disease Melanocytic naevi of lower limb, including hip 1e-04 3.3817 0.8693 Other coagulation defects 0.001176 73.257 22.579 ABCB4 rs139042803 7:87406478:T:C 7 87406478 T C 7:87035794 0.99296 0.000925452 0 340 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other symptoms and signs involving the digestive system and abdomen 5.99e-05 2.5377 0.6323 ABCB4 rs2230028 7:87426860:T:C 7 87426860 T C 7:87056176 0.999743 25257 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial Intrahepatic Cholestasis;Progressive familial intrahepatic cholestasis 3;Progressive intrahepatic cholestasis;not specified Alcohol abuse, main dg (more controls excluded) 0.000247 0.2518 0.0687 Palmar fascial fibromatosis [Dupuytren] 1.829e-05 0.698 0.163 ABCB4 rs45575636 7:87431528:C:T 7 87431528 C T 7:87060844 0.995464 666 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Other puerperal infections 0.000769 2.7891 0.8292 ABCB4 rs58238559 7:87452957:T:C 7 87452957 T C 7:87082273 0.994405 11436 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholecystitis;not provided;not specified Special screening examination for infectious and parasitic diseases 0.000634 -0.2116 0.0619 Other acquired deformities of musculoskeletal system and connective tissue 0.000577 2.809 0.816 ABCB1 rs55852620 7:87509444:T:G 7 87509444 T G 7:87138760 0.995656 15106 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of brain, other and unspecified 0.000219 1.3764 0.3724 Combined immunodeficiencies 0.0007963 5.329 1.589 ABCB1 rs2032582 7:87531302:A:C 7 87531302 A C 7:87160618 0.992107 0.481521 85118 91787 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Loose body in joint 5.67e-05 0.3477 0.0864 Personality and behavioural disorders due to brain disease, damage and dysfunction 0.0001977 0.333 0.09 ABCB1 rs2032582 7:87531302:A:T 7 87531302 A T 7:87160618 0.997846 0.035189 520 12408 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory bowel disease 13;not specified;ondansetron response - Efficacy;simvastatin response - Efficacy Subjective visual disturbances 5.96e-05 -0.326 0.0812 Ulcerative ileocolitis 7.496e-05 3.18 0.803 ABCB1 rs2229109 7:87550493:C:T 7 87550493 C T 7:87179809 0.994225 6813 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Dislocation, sprain and strain of joints and ligaments of knee 0.00149 -0.1741 0.0548 Psoriasis vulgaris 0.00146 2.037 0.64 DBF4 rs138055219 7:87907714:A:G 7 87907714 A G 7:87537029 0.989836 7260 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of oesophagus in diseases classified elsewhere 0.000528 1.4736 0.4251 Erythema multiforme 0.00195 7.741 2.499 DBF4 rs61747462 7:87907873:A:G 7 87907873 A G 7:87537188 0.922399 1043 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lower back pain or/and sciatica 0.00022 -0.4403 0.1192 STEAP4 rs73205916 7:88282672:C:A 7 88282672 C A 7:87911987 0.996902 2012 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degeneration of macula and posterior pole 0.00161 0.4625 0.1467 Chrondropathies 0.00031 17.212 4.772 AKAP9 rs142401936 7:91973742:C:T 7 91973742 C T 7:91603056 0.993195 302 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Volume depletion 0.000142 4.5782 1.2032 AKAP9 rs35669569 7:91973801:C:T 7 91973801 C T 7:91603115 0.987481 4840 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 11;Romano-Ward syndrome;not specified Other abnormal products of conception 0.000604 -0.3297 0.0961 Malignant neoplasm of rectum 0.0007424 11.629 3.447 AKAP9 rs144888041 7:91992989:G:C 7 91992989 G C 7:91622303 0.98464 294 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fracture of neck 0.00194 5.0045 1.6146 AKAP9 rs138161478 7:92001016:G:A 7 92001016 G A 7:91630330 0.977758 232 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified diabetes without complications 0.00155 4.0598 1.2824 AKAP9 rs6964587 7:92001306:G:T 7 92001306 G T 7:91630620 0.999779 86545 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis 0.00113 -0.0651 0.02 0.001497 0.272 0.086 AKAP9 rs61757557 7:92002498:T:C 7 92002498 T C 7:91631812 0.982843 1376 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Long QT syndrome;Romano-Ward syndrome;not provided Superficial injury of neck 0.00145 3.3713 1.0584 Dislocation, sprain and strain of joints and ligaments of elbow 0.002135 43.161 14.055 AKAP9 rs146797353 7:92017092:G:A 7 92017092 G A 7:91646406 0.980948 881 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Long QT syndrome;Romano-Ward syndrome;not specified Other disorders of pigmentation 0.00063 2.9243 0.8555 All influenza (not pneumonia) 0.001421 45.907 14.39 AKAP9 rs10644111 7:92022864:A:AAAC 7 92022864 A AAAC 7:91652178 0.999745 86518 inframe_indel dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis 0.00117 -0.0649 0.02 0.001491 0.272 0.086 AKAP9 rs150016098 7:92045091:T:C 7 92045091 T C 7:91674405 0.997658 362 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 11;not provided;not specified Examination and observation for other reasons 0.000112 1.008 0.2609 Sleep disorders (combined) 0.003348 4.251 1.449 AKAP9 rs76177450 7:92070953:T:C 7 92070953 T C 7:91700267 0.99116 2973 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 11;not provided Benign neoplasm: Duodenum 0.00133 1.8163 0.5658 Other noninfective disordersof lymphatic vessels and lymph nodes 0.0001957 22.328 5.995 AKAP9 rs35759833 7:92079584:A:G 7 92079584 A G 7:91708898 0.997241 49786 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of other connective and soft tissue 0.000383 -0.4739 0.1334 Circumscribed brain atrophy 0.00153 0.819 0.259 AKAP9 rs144875383 7:92083295:A:C 7 92083295 A C 7:91712609 0.997485 394 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spinal stenosis 0.000173 1.1944 0.3181 AKAP9 rs6960867 7:92083384:A:G 7 92083384 A G 7:91712698 0.999092 86574 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis 0.00147 -0.0636 0.02 Other other unspecified disorders of the circulatory system 0.001931 0.24 0.077 AKAP9 rs1063242 7:92085597:C:T 7 92085597 C T 7:91714911 0.953446 3018 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seropositive rheumatoid arthritis, strict definition 0.000333 -1.105 0.308 Seropositive rheumatoid arthritis, strict definition 0.0002801 -0.565 0.155 AKAP9 rs61757663 7:92097213:G:C 7 92097213 G C 7:91726527 0.988773 279 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Juvenile rheuma 0.000421 7.934 2.2497 AKAP9 rs34327395 7:92099813:A:G 7 92099813 A G 7:91729127 0.992477 661 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other pleural conditions 0.000323 2.6056 0.7246 AKAP9 rs141856443 7:92102769:G:A 7 92102769 G A 7:91732083 0.991889 1522 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Long QT syndrome;not provided Abnormal findings on examination of urine, without diagnosis 0.00253 1.7577 0.582 Guillain-Barre syndrome 0.002264 42.736 13.997 KRIT1 rs41278788 7:92225729:A:C 7 92225729 A C 7:91855043 0.999378 5420 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Angiokeratoma corporis diffusum with arteriovenous fistulas;Cerebral cavernous malformation;not provided Presbycusis 0.00013 -0.6946 0.1816 Disorders of ocular muscles, binocular movement, accommodation and refraction 0.0001823 1.787 0.478 GATAD1 rs10281879 7:92447889:G:A 7 92447889 G A 7:92077203 0.99371 0.129079 6268 41154 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Concussion 4.07e-05 -0.0995 0.0242 Other benign neoplasms of uterus (other cancers excluded from controls) 0.001033 0.497 0.151 GATAD1 rs564747350 7:92454670:G:A 7 92454670 G A 7:92083984 0.987889 288 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Poisoning by narcotics and psychodysleptics [hallucinogens] 0.00148 8.3313 2.6214 GATAD1 rs34768413 7:92456449:C:T 7 92456449 C T 7:92085763 0.99081 5243 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy, dilated, 2b;not specified Soft tissue disorders 0.000463 0.1282 0.0366 Other noninfective disordersof lymphatic vessels and lymph nodes 0.0004502 15.498 4.417 PEX1 rs139054881 7:92487499:A:T 7 92487499 A T 7:92116813 0.972885 0.0180273 132 6491 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Pneumonitis due to solids and liquids 7.82e-05 0.8605 0.2178 Schizoid personality disorder 0.002075 6.62 2.15 PEX1 rs35996821 7:92503179:T:C 7 92503179 T C 7:92132493 0.997589 8021 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Zellweger syndrome;not specified Lesion of radial nerve 0.000105 0.9636 0.2484 Lesion of radial nerve 4.724e-05 7.159 1.759 PEX1 rs200857848 7:92513939:T:C 7 92513939 T C 7:92143253 0.90292 708 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammation of lacrimal passages (chronic) 0.00168 4.5093 1.4353 PEX1 rs138758170 7:92517430:G:A 7 92517430 G A 7:92146744 0.991704 1880 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hepatomegaly and splenomegaly, not elsewhere classified 0.00155 4.1074 1.2975 0.001066 81.127 24.79 CDK6 rs140409009 7:92615172:T:A 7 92615172 T A 7:92244486 0.98929 0.0151937 94 5488 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other endocrine disorders 6.82e-05 0.984 0.2471 Tinnitus 0.0001216 3.621 0.942 CDK6 rs35654944 7:92774737:C:T 7 92774737 C T 7:92404051 0.935384 148 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other acute skin changes due to ultraviolet radiation 0.0011 9.4035 2.882 SAMD9 rs144380633 7:93101365:A:G 7 93101365 A G 7:92730678 0.8947 1705 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of patella 0.000139 0.8109 0.2129 Benign neoplasm: Connective and other soft tissue, unspecified 6.021e-05 515.383 128.461 SAMD9 rs148724199 7:93101374:C:T 7 93101374 C T 7:92730687 0.979253 0.0086802 40 3149 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (subcortical) 7.05e-05 2.6967 0.6785 Ectropion of eyelid 8.874e-05 29.438 7.511 SAMD9 rs34896991 7:93101432:C:T 7 93101432 C T 7:92730745 0.98813 2909 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of shoulder and upper limb, except wrist and hand 0.0021 2.0319 0.6605 Benign neoplasm of brain and other parts of central nervous system (other cancers excluded from controls) 0.0006109 13.25 3.867 SAMD9 rs146087534 7:93103090:T:C 7 93103090 T C 7:92732403 0.993508 0.00217481 8 791 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified follicular disorders 7.16e-05 5.0328 1.2675 Undescended testicle 0.0002631 257.44 70.547 SAMD9 rs147157740 7:93105841:G:A 7 93105841 G A 7:92735154 0.937791 0.00119492 2 437 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other infectious diseases 8.98e-05 3.1388 0.8014 SAMD9L rs139478067 7:93131510:C:T 7 93131510 C T 7:92760823 0.934049 173 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital musculoskeletal deformities of head, face, spine and chest 0.000886 22.5791 6.7918 SAMD9L rs117342581 7:93132944:G:C 7 93132944 G C 7:92762257 0.977501 395 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative ileocolitis 0.000523 4.2772 1.2331 SAMD9L rs143593856 7:93134276:C:T 7 93134276 C T 7:92763589 0.993281 2355 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myocarditis 0.000359 1.3371 0.3747 Death due to cardiac causes 0.0001146 3.294 0.854 SAMD9L rs150070697 7:93134756:G:A 7 93134756 G A 7:92764069 0.989745 2500 pLoF dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis, primary, with knee surgery 0.000192 0.4357 0.1168 Benign lipomatous neoplasm of other sites/unspecified 0.0003132 17.277 4.794 CALCR rs1801197 7:93426441:A:G 7 93426441 A G 7:93055753 0.99513 70942 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Injuries to the shoulder and upper arm 0.000231 -0.0555 0.0151 Hereditary retinal dystrophy 8.477e-06 0.796 0.179 CALCR rs142718250 7:93479432:C:T 7 93479432 C T 7:93108744 0.980045 570 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormal immunological findings in serum 0.000929 6.4774 1.9563 Arthropathies 0 1.945 0 COL1A2 rs189557655 7:94404580:C:T 7 94404580 C T 7:94033892 0.879664 363 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Burn and corrosion confined to eye and adnexa 0.000979 6.1254 1.8582 COL1A2 rs42524 7:94413927:C:G 7 94413927 C G 7:94043239 0.998611 62747 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental disorders, not otherwise specified 0.000119 -0.2116 0.055 Mental disorders, not otherwise specified 1.267e-05 -0.145 0.033 COL1A2 rs34147460 7:94419550:G:A 7 94419550 G A 7:94048862 0.993751 0.00963015 38 3500 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ehlers-Danlos syndrome, classic type;Osteogenesis imperfecta type I;not specified Carpal tunnel syndrome 2.63e-06 -0.4093 0.0871 Other diseases of intestine 0.0006896 12.428 3.662 SGCE rs183951730 7:94597961:C:T 7 94597961 C T 7:94227273 0.961779 979 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tobacco use 0.00101 3.6772 1.1185 SGCE rs559235992 7:94597963:C:T 7 94597963 C T 7:94227275 0.972005 10042 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Manic episode 0.000221 0.778 0.2106 Other and unspecified tonssillitis 0.001008 0.84 0.256 SGCE rs10247562 7:94597964:T:G 7 94597964 T G 7:94227276 0.995205 62144 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons with potential health hazards related to socioeconomic and psychosocial circumstances 0.000721 -0.0962 0.0285 Thyrotoxicosis with diffuse goitr 0.001351 0.082 0.026 PPP1R9A rs117573976 7:95284095:T:C 7 95284095 T C 7:94913407 0.989715 1823 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries of head 0.00069 1.667 0.4912 Other disorders of breast and lactation associated with childbirth 0.0008643 83.669 25.116 PON1 rs662 7:95308134:T:C 7 95308134 T C 7:94937446 0.999987 71672 missense_variant unknown association, risk factor association no assertion criteria provided no_Criteria Other diseases of blood and blood-forming organs 0.000145 -0.1326 0.0349 Elevated blood glucose level 0.0003094 -0.28 0.078 PON1 rs854560 7:95316772:A:T 7 95316772 A T 7:94946084 0.999777 85104 missense_variant unknown association, risk factor association no assertion criteria provided no_Criteria Other retinal artery occlusion 0.000619 -0.356 0.104 Other CVD 0.002096 0.11 0.036 PON3 rs139856535 7:95360067:C:T 7 95360067 C T 7:94989379 0.998277 4372 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.00119 1.288 0.3974 Recurrent dislocation of patella 0.0005617 13.019 3.774 PON3 rs147006695 7:95394695:G:A 7 95394695 G A 7:95024007 0.961922 502 pLoF unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dissection of aorta 0.000147 5.5722 1.4676 PON2 rs7493 7:95405463:G:C 7 95405463 G C 7:95034775 0.997952 0.420675 64916 89635 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Respiratory insufficiency 9.11e-05 -0.2363 0.0604 Benign neoplasm of brain and other parts of central nervous system (other cancers excluded from controls) 5.649e-06 0.227 0.05 PON2 rs12026 7:95411704:G:C 7 95411704 G C 7:95041016 0.997899 0.420087 64718 89617 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Respiratory insufficiency 7.46e-05 -0.2394 0.0604 Benign neoplasm of brain and other parts of central nervous system (other cancers excluded from controls) 8.248e-06 0.223 0.05 PON2 rs17876183 7:95434956:C:T 7 95434956 C T 7:95064268 0.980162 5603 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Hydronephrosis 0.00207 0.5568 0.1808 Granulomatous disorders of skin and subcutaneous tissue 0.000298 18.553 5.129 PDK4 rs144262262 7:95592889:T:C 7 95592889 T C 7:95222201 0.926506 266 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Extrapyramidal and movement disorders 0.000316 1.9715 0.5473 DYNC1I1 rs117676704 7:95813198:C:G 7 95813198 C G 7:95442510 0.99879 13520 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pathological/recurrent dislocation and subluxation of joint, not elsewhere classified 0.000878 0.3691 0.1109 Oedema, not elsewhere classified 0.0001828 1.083 0.289 SLC25A13 rs769939259 7:96131859:C:T 7 96131859 C T 7:95761171 0.844892 103 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Protozoal diseases 0.00111 19.0467 5.8389 ASNS rs1049674 7:97859257:A:T 7 97859257 A T 7:97488569 0.984883 64592 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Systemic sclerosis 0.000624 -0.3885 0.1135 Artificial opening status 0.001522 -0.188 0.059 KPNA7 rs200524486 7:99188377:G:A 7 99188377 G A 7:98786000 0.977325 0.00113776 2 416 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma 6.73e-05 -0.8042 0.2018 KPNA7 rs116916633 7:99188469:G:A 7 99188469 G A 7:98786092 0.951505 4868 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other endocrine disorders 0.000567 0.964 0.2797 Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.0002424 1.674 0.456 PDAP1 rs146420545 7:99396696:A:G 7 99396696 A G 7:98994319 0.981514 4748 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the musculoskeletal system and connective tissue 0.000123 -0.1296 0.0338 Benign neoplasm: Pituitary gland, craniopharyngeal duct 0.0001483 17.541 4.624 PTCD1 rs150504114 7:99434936:G:A 7 99434936 G A 7:99032559 0.841849 281 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of colon (other cancers excluded from controls) 0.000355 3.2329 0.9052 CYP3A7 rs45580339 7:99722302:A:G 7 99722302 A G 7:99319925 0.972703 4109 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of labour and delivery 0.000319 -0.2171 0.0603 Unspecified abortion 0.001024 10.39 3.164 MCM7 rs149624106 7:100094248:C:G 7 100094248 C G 7:99691871 0.984496 308 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carrier of infectious disease 0.000949 9.936 3.0061 AP4M1 rs41280968 7:100105324:G:A 7 100105324 G A 7:99702947 0.999529 42059 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertensive Heart Disease 0.000617 -0.1391 0.0406 Malignant neoplasm of cervix uteri (other cancers excluded from controls) 0.0002705 0.406 0.112 LRCH4 rs52833865 7:100578739:C:T 7 100578739 C T 7:100176362 0.956284 517 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bacterial, viral and other infectious agents 0.000254 2.6344 0.7202 Other arthrosis 0.0001037 4.332 1.116 PCOLCE rs61739556 7:100608083:G:C 7 100608083 G C 7:100205706 0.972527 0.0112061 56 4061 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of calcium metabolism 9.24e-05 1.3054 0.3339 Any death 0.0003742 1.564 0.44 TFR2 rs144665594 7:100620985:C:T 7 100620985 C T 7:100218608 0.972932 342 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disease of Bartholin gland 0.000505 5.5387 1.5926 TFR2 rs41295942 7:100621008:C:T 7 100621008 C T 7:100218631 0.959945 12264 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary hemochromatosis;not specified Other (seronegative) rheumatoid arthritis, wide 0.0016 -0.2666 0.0845 Malignant neoplasm of cervix uteri (other cancers excluded from controls) 3.75e-06 2.599 0.562 TFR2 rs573769443 7:100627786:T:A 7 100627786 T A 7:100225409 0.993589 471 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Obstructed labour due to maternal pelvic abnormality 0.000137 2.4706 0.6478 TFR2 rs139178017 7:100628224:C:T 7 100628224 C T 7:100225847 0.994909 3068 LC recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute bronchiolitis 0.000423 1.1771 0.3339 Disorders of the thyroid gland 0.0001486 1.687 0.445 TFR2 rs41303501 7:100629279:C:T 7 100629279 C T 7:100226902 0.994518 1576 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hemochromatosis type 3;Hemochromatosis, type 1, modifier of;Hereditary hemochromatosis Obstructed labour due to maternal pelvic abnormality 2e-04 1.18 0.3173 Toxic effect of carbon monoxide 0.0004013 188.906 53.375 TFR2 rs41303495 7:100631032:G:T 7 100631032 G T 7:100228655 0.971401 548 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Motor neuron disease 0.000504 7.5013 2.1563 TFR2 rs184812195 7:100631815:C:T 7 100631815 C T 7:100229438 0.996789 2852 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary hemochromatosis Fissure and fistula of anal and rectal regions 0.000177 -0.543 0.1448 Diseases of external ear 0.0003376 6.536 1.823 EPO rs62483572 7:100722010:G:A 7 100722010 G A 7:100319633 0.991126 329 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Central retinal artery occlusion 0.00117 9.2255 2.8417 EPHB4 rs35638378 7:100805509:C:A 7 100805509 C A 7:100403131 0.981905 905 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tibial collateral bursitis [Pellegrini-Stieda] 0.000849 6.5651 1.9678 EPHB4 rs147563837 7:100822388:G:A 7 100822388 G A 7:100420010 0.880688 624 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervical disc disorders 0.00101 0.8601 0.2617 ACHE rs1799805 7:100893176:G:T 7 100893176 G T 7:100490797 0.999818 10516 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria YT BLOOD GROUP POLYMORPHISM Melanocytic naevi of other and unspecified parts of face 0.00036 0.6121 0.1716 0.002855 6.53 2.189 SERPINE1 rs6092 7:101128436:G:A 7 101128436 G A 7:100771717 0.9888 26352 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Plasminogen activator inhibitor type 1 deficiency Open wound of wrist and hand 0.0017 0.116 0.037 Inflammation of lacrimal passages (acute and unspecified) 0.001601 2.031 0.644 SERPINE1 rs6090 7:101128442:G:A 7 101128442 G A 7:100771723 0.995128 18294 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Plasminogen activator inhibitor type 1 deficiency Allergic urticaria 0.00147 -0.3378 0.1062 Intermittent heterotropia 0.0002238 1.777 0.481 PLOD3 rs147326916 7:101208885:G:C 7 101208885 G C 7:100852166 0.970587 0.00133918 2 490 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast and lactation associated with childbirth 9.01e-05 12.0535 3.0782 PLOD3 rs41281013 7:101211934:C:G 7 101211934 C G 7:100855215 0.958551 990 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other neurological diseases 0.000926 0.4931 0.1489 Atypical facial pain 0.002682 35.997 11.991 PLOD3 rs35159414 7:101215953:G:A 7 101215953 G A 7:100859234 0.980711 0.0272028 314 9680 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Benign neoplasm: Colon, unspecified 8.08e-05 0.352 0.0893 Lack of expected normal physiological development 0.000402 2.975 0.841 PLOD3 rs200949505 7:101216413:T:C 7 101216413 T C 7:100859694 0.995757 1858 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Childhood allergy (age < 16) 0.000843 0.8426 0.2524 MYL10 rs141873317 7:101613679:G:A 7 101613679 G A 7:101256959 0.994083 322 missense_variant unknown not provided not_provided no assertion provided none Other psoriatic arthropathies 0.000189 3.6739 0.9841 CUX1 rs187519642 7:102115222:G:A 7 102115222 G A 7:101758502 0.993816 1160 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Focal epilepsy 0.000118 2.1739 0.5645 SLC26A5 rs117444825 7:103393049:T:C 7 103393049 T C 7:103033496 0.985616 4086 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Peripheral artery operations in Hilmo 6e-04 0.6739 0.1964 Benign neoplasm: Conjunctiva (other cancers excluded from controls) 0.0001457 25.912 6.822 SLC26A5 rs141952919 7:103421378:A:G 7 103421378 A G 7:103061825 0.937928 0.00158688 4 579 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Persons encountering health services in other circumstances 1.49e-05 0.6591 0.1522 Degenerative macular diseases 0.001195 69.205 21.36 RELN rs188371196 7:103482877:C:T 7 103482877 C T 7:103123324 0.986841 0.00141268 2 517 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Respiratory disorders in diseases classified elsewhere 9.05e-05 12.3397 3.152 RELN rs202166176 7:103510913:G:A 7 103510913 G A 7:103151360 0.921352 260 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of spinal cord 0.000414 8.0081 2.2679 RELN rs150236371 7:103523443:C:T 7 103523443 C T 7:103163890 0.993059 845 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Wegener granulomatosis 0.00258 4.6927 1.5569 RELN rs146877597 7:103545127:C:T 7 103545127 C T 7:103185574 0.913911 186 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postprocedural musculoskeletal disorders, not elsewhere classified 0.00224 5.4524 1.7839 RELN rs149837553 7:103553807:A:G 7 103553807 A G 7:103194254 0.976807 250 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin, unspecified 0.000983 6.3563 1.929 RELN rs41275239 7:103557156:G:A 7 103557156 G A 7:103197603 0.987767 339 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified iridocyclitis 0.000596 7.2501 2.1115 RELN rs115913736 7:103565332:G:A 7 103565332 G A 7:103205779 0.994399 2306 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epilepsy, familial temporal lobe, 7;Lissencephaly 2;Lissencephaly 2;not provided;not specified Type 2 diabetes with renal complications 0.000881 1.0117 0.3042 0.0007683 3.039 0.903 RELN rs2229860 7:103565380:G:C 7 103565380 G C 7:103205827 0.985714 2600 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, familial temporal lobe, 7;Lissencephaly 2;not provided;not specified Multiple myeloma and malignant plasma cell neoplasms (other cancers excluded from controls) 0.000831 1.5543 0.4651 Nausea and vomiting 1.425e-05 7.613 1.754 RELN rs143213152 7:103574195:C:T 7 103574195 C T 7:103214642 0.913762 486 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified inflammatory spondylopathies 0.000808 3.6786 1.0981 RELN rs55689103 7:103593755:C:T 7 103593755 C T 7:103234202 0.995341 1401 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, familial temporal lobe, 7;Lissencephaly 2;not provided;not specified Transient ischemic attack 0.000604 0.5149 0.1501 Soft tissue disorders 0 2.385 0 RELN rs114003896 7:103593882:T:G 7 103593882 T G 7:103234329 0.999 14858 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lissencephaly, Recessive;not specified Calculus of lower urinary tract 0.000362 0.6034 0.1692 Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.0006495 5.633 1.652 RELN rs56342240 7:103594381:G:C 7 103594381 G C 7:103234828 0.968052 314 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Anaemias 0.000152 1.1987 0.3165 RELN rs145484343 7:103596571:A:T 7 103596571 A T 7:103237018 0.990143 3266 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epilepsy, familial temporal lobe, 7;Lissencephaly 2;Lissencephaly, Recessive;not specified Small cell lung cancer 0.000267 2.7019 0.7412 Other puerperal infections 0.000924 10.411 3.143 RELN rs362691 7:103610714:G:C 7 103610714 G C 7:103251161 0.9959 32936 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lissencephaly, Recessive;not provided;not specified Emotional disorders and disorders of social functioning with onset specific to childhood 0.00036 0.3504 0.0982 Vascular dementia (undefined) 0.00312 0.799 0.27 RELN rs190615928 7:103611679:G:A 7 103611679 G A 7:103252126 0.990375 960 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter !!!Vapaa-ajan tapaturmat 0.00156 5.4619 1.7269 RELN rs115734214 7:103651665:T:G 7 103651665 T G 7:103292112 0.996026 12115 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, familial temporal lobe, 7;Lissencephaly 2;Lissencephaly, Recessive;not provided;not specified Acute alcohol intoxication 0.000322 -0.242 0.0673 Coeliac disease 0.0002672 1.464 0.402 RELN rs78008536 7:103651754:G:A 7 103651754 G A 7:103292201 0.983764 6682 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, familial temporal lobe, 7;Lissencephaly 2;not provided;not specified Scoliosis 0.00024 0.6886 0.1875 Diabetes, insuline treatment (Kela reimbursement) 0.0002137 0.954 0.258 RELN rs200289289 7:103700935:C:T 7 103700935 C T 7:103341382 0.983671 163 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specified and unspecified strabismus 0.000951 22.3274 6.7567 RINT1 rs11556986 7:105536594:A:T 7 105536594 A T 7:105177041 0.998536 56800 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other eating disorders 0.00103 -0.2412 0.0735 Myalgia 0.000844 0.191 0.057 RINT1 rs199512216 7:105547261:G:A 7 105547261 G A 7:105187708 0.993105 454 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bacterial, viral and other infectious agents 0.000109 2.8085 0.7257 RINT1 rs199535472 7:105547276:C:T 7 105547276 C T 7:105187723 0.977756 315 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other assisted single delivery 0.000568 11.6443 3.3785 RINT1 rs35531972 7:105565368:C:A 7 105565368 C A 7:105205815 0.944832 2557 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other congenital malformations 0.00101 0.9656 0.2937 Eosinophilia 0.001148 74.109 22.792 RINT1 rs34310648 7:105567208:C:T 7 105567208 C T 7:105207655 0.953315 1019 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Keratoconus 0.000123 4.7543 1.2383 CDHR3 rs144905888 7:106020526:C:T 7 106020526 C T 7:105660972 0.992372 0.00201694 0 741 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Artificial opening status 7.7e-05 5.1435 1.3009 COG5 rs35393416 7:107298193:T:C 7 107298193 T C 7:106938638 0.983437 370 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;not provided;not specified Pyoderma 0.000381 8.4943 2.391 0 4.976 0 COG5 rs41276187 7:107298208:T:C 7 107298208 T C 7:106938653 0.96093 0.00222653 4 814 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Choroid (other cancers excluded from controls) 6.84e-06 4.6672 1.0374 COG5 rs34087251 7:107362059:T:C 7 107362059 T C 7:107002504 0.99746 15971 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation;not specified Cramp and spasm 0.000699 0.5767 0.1701 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.0004167 0.369 0.105 COG5 rs2269970 7:107362361:A:G 7 107362361 A G 7:107002806 0.998477 91788 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pericarditis 0.000278 0.2675 0.0736 Effects of foreign body entering through natural orifice 0.0002709 0.076 0.021 COG5 rs146391348 7:107563830:C:G 7 107563830 C G 7:107204275 0.84627 24 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Ulcer of oesophagus 0.00178 15.7748 5.0488 SLC26A4 rs201905280 7:107674189:G:A 7 107674189 G A 7:107314634 0.993194 1128 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pendred syndrome;not specified Alcoholic liver disease 0.000122 1.7109 0.4453 0.001186 -5.353 1.651 SLC26A4 rs55638457 7:107701183:T:C 7 107701183 T C 7:107341628 0.912473 489 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postpartum haemorrhage 0.000275 1.6147 0.4438 SLC26A4 rs201709908 7:107701189:C:T 7 107701189 C T 7:107341634 0.99514 885 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pendred syndrome Benign neoplasms (other cancers excluded from controls) 0.000402 0.3207 0.0906 Nephrotic syndrome 0.0009931 83.974 25.505 SLC26A4 rs111033255 7:107715429:C:T 7 107715429 C T 7:107355874 0.984406 1422 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified malignant neoplasm of female genital organs (other cancers excluded from controls) 0.000701 0.7177 0.2117 Injuries to the knee and lower leg 0.0009675 3.831 1.161 SLC26A3 rs386833491 7:107786844:AACC:A 7 107786844 AACC A 7:107427289 0.867541 1287 inframe_indel recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Multiple gestation 0.000104 1.8077 0.4659 SLC26A3 rs34407351 7:107786877:A:C 7 107786877 A C 7:107427322 0.993921 17126 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital secretory diarrhea, chloride type Diplopia 0.00107 0.2983 0.0912 Haemorrhagic and haematological disorders of fetus and newborn 0.0002405 7.082 1.928 SLC26A3 rs73419912 7:107791855:G:T 7 107791855 G T 7:107432300 0.910815 5142 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Inflammatory disease of cervix uteri 0.000112 0.8735 0.2262 Sixth [abducent] nerve palsy 0.0004077 15.128 4.28 DLD rs145670503 7:107915609:G:A 7 107915609 G A 7:107556054 0.951538 332 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of puberty 0.000778 10.7207 3.1903 LAMB1 rs35915664 7:107929517:A:G 7 107929517 A G 7:107569962 0.997013 9230 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified !!!Vapaa-ajan tapaturmat 0.000608 1.6001 0.4668 Presence of other functional implants 1.875e-05 1.439 0.336 LAMB1 rs20556 7:107953544:T:C 7 107953544 T C 7:107593989 0.987476 82218 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental disorders, not otherwise specified 0.00025 -0.1778 0.0485 Other pulmonary heart/vessel disease 0.0001183 -0.207 0.054 LAMB1 rs141390544 7:107953571:C:T 7 107953571 C T 7:107594016 0.991083 360 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hemiplegia 0.00123 3.4633 1.0718 LAMB1 rs61751041 7:107953740:C:T 7 107953740 C T 7:107594185 0.989819 7091 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Malignant neoplasm of bladder 0.00103 0.5828 0.1776 Follow-up examination after treatment for conditions other than malignant neoplasms 0.0001078 1.125 0.291 LAMB1 rs139487685 7:107955598:A:G 7 107955598 A G 7:107596043 0.851495 123 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol related diseases, tilastokeskus definition, death only 0.0023 5.4007 1.7717 LAMB1 rs35710474 7:107959361:C:T 7 107959361 C T 7:107599806 0.973009 16238 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other specified/unspecified bacterial intestinal infections 0.000281 0.4765 0.1312 Artificial opening status 1.35e-05 4.489 1.031 LAMB1 rs80095409 7:107959766:G:C 7 107959766 G C 7:107600211 0.984178 6741 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Vertical strabismus 0.000268 1.1732 0.3219 Disorders resulting from impaired renal tubular function 0.0001027 13.953 3.592 LAMB1 rs139759735 7:107980808:A:G 7 107980808 A G 7:107621253 0.970974 814 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Severe non-proliferative background diabetic retinopathy 0.000605 4.1262 1.2031 LAMB1 rs140146478 7:107986311:G:C 7 107986311 G C 7:107626756 0.983772 946 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Episodal and paroxysmal disorders 0.000128 0.33 0.0862 LAMB4 rs568834649 7:108024059:AT:A 7 108024059 AT A 7:107664504 0.945762 1894 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple gestation 0.000373 1.3154 0.3696 Benign neoplasm: Skin of scalp and neck 0.002878 33.774 11.332 LAMB4 rs147992634 7:108055656:A:C 7 108055656 A C 7:107696101 0.981431 163 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Procreative management 1e-04 3.0689 0.7889 NRCAM rs34721383 7:108180375:T:C 7 108180375 T C 7:107820819 0.991717 1703 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cyst of Bartholin Gland 0.000262 2.0501 0.5616 Malignant neoplasm of breast 0.0006926 6.882 2.029 PNPLA8 rs141089628 7:108514215:A:C 7 108514215 A C 7:108154659 0.996789 1487 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitamin deficiency 0.0029 1.7092 0.5739 Congenital malformations of great arteries 0.0004945 154.469 44.34 PNPLA8 rs138887728 7:108514467:T:C 7 108514467 T C 7:108154911 0.98842 316 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with coma 0.000151 2.6287 0.6938 PNPLA8 rs139626312 7:108514933:G:A 7 108514933 G A 7:108155377 0.992647 959 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Campylobacter enteritis 0.000285 4.0265 1.1097 Other disorders of urethra and urinary system 4.62e-07 3.323 0.659 DOCK4 rs199706346 7:111728425:G:A 7 111728425 G A 7:111368481 0.993698 931 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of the puerperium, not elsewhere classified 0.000345 3.2779 0.916 Separation of retinal layers (serosa) 0.0008286 97.339 29.117 DOCK4 rs186031092 7:111822414:G:T 7 111822414 G T 7:111462470 0.947663 276 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enteropathic arthropathies 0.000101 11.7717 3.0274 DOCK4 rs12705801 7:111877171:T:C 7 111877171 T C 7:111517227 0.98912 2023 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dementia in Alzheimer disease 0.00104 0.7847 0.2392 0 2.764 0 DOCK4 rs202246313 7:111989163:G:A 7 111989163 G A 7:111629218 0.99795 0.00307305 6 1123 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of corpus uteri (other cancers excluded from controls) 7.35e-05 2.1371 0.539 Varicose veins of other sites 0.001999 46.74 15.124 IFRD1 rs79480470 7:112462016:C:G 7 112462016 C G 7:112102071 0.981744 1087 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Acute and transient psychotic disorders 0.000147 1.2847 0.3384 Superficial injury of lower leg 0.0001428 20.225 5.318 TMEM168 rs150584875 7:112784759:C:T 7 112784759 C T 7:112424814 0.969058 1109 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute and transient psychotic disorders 0.000358 1.1849 0.332 Superficial injury of lower leg 0.0002949 15.918 4.398 PPP1R3A rs1799999 7:113878379:C:A 7 113878379 C A 7:113518434 0.995978 54824 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Ectropion of eyelid 0.000175 -0.3886 0.1036 Retinal breaks without detachment 0.001068 0.239 0.073 PPP1R3A rs1800000 7:113878443:C:A 7 113878443 C A 7:113518498 0.993856 0.0703589 1970 23879 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Monogenic diabetes Maternal care for known or suspected disproportion 8.86e-05 0.4833 0.1233 Disorders of conjunctiva 0.0009473 -0.218 0.066 PPP1R3A rs1016606943 7:113879105:CCT:C 7 113879105 CCT C 7:113519160 0.952372 448 pLoF dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism (congenital or acquired) 0.000312 0.8094 0.2245 PPP1R3A rs61756423 7:113879177:C:A 7 113879177 C A 7:113519232 0.970927 3602 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monogenic diabetes Immunodeficiencies 0.000582 1.1551 0.3358 Mental and behavioural disorders due to opioids 0.000383 9.476 2.668 PPP1R3A rs8192687 7:113918864:C:T 7 113918864 C T 7:113558919 0.989832 9152 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monogenic diabetes Convalescence 0.000285 0.6869 0.1893 Metatarsalgia 3.234e-07 4.911 0.961 FOXP2 rs201649896 7:114426561:A:T 7 114426561 A T 7:114066616 0.888257 200 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Larynx 0.000153 10.6372 2.8097 CAV1 rs35697540 7:116525106:G:T 7 116525106 G T 7:116165160 0.915198 722 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi 0.00207 -0.98 0.3182 CAV1 rs140936491 7:116559198:A:G 7 116559198 A G 7:116199252 0.972518 0.000906399 0 333 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other behavioural and emotional disorders with onset usually occuring in childhood and adolescence 1.95e-05 5.2713 1.2345 MET rs80153920 7:116695757:A:T 7 116695757 A T 7:116335811 0.99563 4800 start_lost both not provided not_provided no assertion provided none not specified Haemorrhage, not elsewhere classified 0.000197 1.5308 0.4112 Toxic effects of substances chiefly nonmedicinal as to source 2.46e-05 8.201 1.944 MET rs199701987 7:116699490:G:A 7 116699490 G A 7:116339544 0.997019 443 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postzoster neuralgia 0.00123 9.0955 2.8151 MET rs749728359 7:116699823:A:G 7 116699823 A G 7:116339877 0.932554 295 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter All influenza 0.000349 2.0277 0.567 MET rs33917957 7:116700208:A:G 7 116700208 A G 7:116340262 0.999807 14967 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Renal cell carcinoma, papillary, 1;not provided;not specified Type 2 diabetes with ophthalmic complications 0.000109 0.3502 0.0905 Benign neoplasm: Peripheral nerves and autonomic nervous system (other cancers excluded from controls) 0.0009925 4.927 1.496 MET rs34589476 7:116771869:C:T 7 116771869 C T 7:116411923 0.956379 506 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of cervix uteri (other cancers excluded from controls) 0.000917 1.9241 0.5805 MET rs56391007 7:116771936:C:T 7 116771936 C T 7:116411990 0.995755 6704 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma;Congenital diaphragmatic hernia;Hereditary cancer-predisposing syndrome;Neoplasm;Renal cell carcinoma, papillary, 1;not provided;not specified Purpura and other haemorrhagic conditions 0.000288 0.5313 0.1465 Acquired haemolytic anaemia 1.815e-05 18.504 4.317 MET rs199763277 7:116778932:G:A 7 116778932 G A 7:116418986 0.945361 499 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Syncope and collapse 0.000147 0.9763 0.2571 ST7 rs35196356 7:117222922:G:T 7 117222922 G T 7:116862976 0.94167 1027 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Single delivery by forceps and vacuum extractor 0.000994 1.024 0.3111 Acute nephritic syndrome 0.001135 74.618 22.926 WNT2 rs111269299 7:117278181:T:C 7 117278181 T C 7:116918235 0.975089 4407 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other postsurgical states 0.00022 1.1871 0.3213 Sequelae of injuries of upper limb 0.000411 6.426 1.819 CFTR rs1800076 7:117509093:G:A 7 117509093 G A 7:117149147 0.982211 1779 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Cystic fibrosis;Hereditary pancreatitis;Lung disease, non-specific;not provided;not specified Ovarian cyst 0.000841 -0.4269 0.1279 Other bursopathies 0.001067 9.359 2.86 CFTR rs374992300 7:117509127:CTT:C 7 117509127 CTT C 7:117149181 0.952987 0.00245517 4 898 pLoF both Pathogenic (likely)Pathogenic reviewed by expert panel Criteria_multSubmitter Type 1 diabetes with ketoacidosis 9.31e-05 2.1398 0.5475 Suggestive for eosinophilic asthma 0 19.837 0 CFTR rs78655421 7:117530975:G:A 7 117530975 G A 7:117171029 0.984487 0.00115954 2 424 missense_variant both Pathogenic (likely)Pathogenic practice guideline Criteria_multSubmitter Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder 4.83e-05 5.6474 1.3896 CFTR rs121909046 7:117535318:A:G 7 117535318 A G 7:117175372 0.999592 10421 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Cystic fibrosis;not provided;not specified Benign neoplasm: Skin of upper limb, including shoulder 0.00111 0.997 0.3057 Urticaria and erythema 0.0004225 0.891 0.253 CFTR rs213950 7:117559479:G:A 7 117559479 G A 7:117199533 0.999883 91063 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Family history of certain disabilities and chronic diseases leading to disablement 0.000123 -0.2877 0.0749 Palmar fascial fibromatosis [Dupuytren] 4.185e-05 0.105 0.026 CFTR rs1801178 7:117559590:ATCT:A 7 117559590 ATCT A 7:117199644 0.973152 1184 inframe_indel both Pathogenic (likely)Pathogenic practice guideline Criteria_multSubmitter Cystic fibrosis;not provided Carcinoma in situ of cervix uteri (other cancers excluded from controls) 0.000988 3.6759 1.116 Endocrine, nutritional and metabolic diseases 0 3.048 0 CFTR rs74571530 7:117559594:T:G 7 117559594 T G 7:117199648 0.917688 100 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Hyperkalaemia 0.00295 12.7388 4.2848 CFTR rs1800098 7:117590400:G:C 7 117590400 G C 7:117230454 0.991347 2243 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Chronic sinusitis;Congenital bilateral absence of the vas deferens;Cystic fibrosis;Hereditary pancreatitis;Lung disease, non-specific;not provided;not specified Poisoning by medicine 0.000628 0.5802 0.1697 Oedema, not elsewhere classified 0.0001119 8.048 2.083 CFTR rs1800100 7:117592169:C:T 7 117592169 C T 7:117232223 0.993201 2301 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Bronchiectasis with or without elevated sweat chloride 1;Chronic sinusitis;Congenital bilateral absence of the vas deferens;Cystic fibrosis;Cystic fibrosis;Hereditary pancreatitis;Lung disease, non-specific;not provided;not specified Poisoning by medicine 0.000588 0.578 0.1682 3.514e-05 1.328 0.321 CFTR rs150157202 7:117592427:G:A 7 117592427 G A 7:117232481 0.994205 1345 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cystic fibrosis;not provided;not specified Fitting and adjustment of other devices 0.000978 0.6913 0.2097 Hemiplegia 0.003171 30.461 10.323 CFTR rs200735475 7:117594941:T:G 7 117594941 T G 7:117234995 0.98549 503 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Motor disorders (more controls excluded) 0.000188 8.5131 2.2796 CFTR rs34911792 7:117627758:T:G 7 117627758 T G 7:117267812 0.980621 1675 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cystic fibrosis;not provided;not specified Congenital iodine-deficiency syndrome/hypothyroidism 0.00215 2.2546 0.7346 Abnormal involuntary movements 0.0004842 13.307 3.814 KCND2 rs146220085 7:120275378:C:T 7 120275378 C T 7:119915432 0.98984 476 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early myoclonic encephalopathy Allergic asthma (mode) 0.000965 1.1738 0.3556 Internar derangement of knee 7.018e-05 3.563 0.896 PTPRZ1 rs74821923 7:122012116:G:C 7 122012116 G C 7:121652170 0.992899 4640 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degenerative macular diseases 0.000296 0.6465 0.1786 Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.0007367 11.685 3.462 PTPRZ1 rs76373682 7:122012284:A:C 7 122012284 A C 7:121652338 0.992887 4632 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degenerative macular diseases 0.000285 0.649 0.1788 Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.0007367 11.685 3.462 AASS rs140285200 7:122076508:T:C 7 122076508 T C 7:121716562 0.998463 979 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperlysinemia;Saccharopinuria;not specified Keratitis 0.000323 0.789 0.2194 Other crystal arthropathies 0.0002069 334.814 90.235 AASS rs74882337 7:122093136:G:A 7 122093136 G A 7:121733190 0.967405 1164 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Recurrent dislocation of patella 0.000224 2.0849 0.5649 0.001468 -1.551 0.488 AASS rs149272323 7:122133690:C:G 7 122133690 C G 7:121773744 0.975416 1524 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of kidney and ureter 0.000101 1.3855 0.3563 Seborrhoeic dermatitis 4.681e-05 33.334 8.188 FEZF1 rs145467198 7:122304185:T:C 7 122304185 T C 7:121944239 0.987338 0.0121942 78 4402 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified hydrocephalus 8.81e-05 3.2555 0.8302 Benign neoplasm of eye and adnexa (other cancers excluded from controls) 0.0002437 7.558 2.06 POT1 rs35536751 7:124841131:C:A 7 124841131 C A 7:124481185 0.99277 4474 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10;not specified Pneumonia due to Streptococcus pneumoniae 0.000873 1.0207 0.3067 Fracture of skull and facial bones 0.001128 4.518 1.387 POT1 rs116916706 7:124851918:C:A 7 124851918 C A 7:124491972 0.992738 0.00290701 8 1060 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Melanoma, cutaneous malignant, susceptibility to, 10;not specified Benign neoplasm: Tongue (other cancers excluded from controls) 1.13e-05 5.0749 1.1558 Other disorders of urethra and urinary system 0.0001697 5.008 1.332 POT1 rs6977407 7:124858948:A:C 7 124858948 A C 7:124499002 0.999373 90811 LC dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atrophic disorders of skin 0.000342 0.1448 0.0404 Other facial nerve disorders 0.001473 0.217 0.068 POT1 rs6959712 7:124858949:T:A 7 124858949 T A 7:124499003 0.999373 90811 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atrophic disorders of skin 0.000342 0.1448 0.0404 Other facial nerve disorders 0.001473 0.217 0.068 PAX4 rs712700 7:127610853:T:C 7 127610853 T C 7:127250907 0.998854 70241 stop_lost both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 0.000161 -0.7567 0.2005 Social disorders starting during childhood or adolecense (more controls excluded) 0.0002277 -0.444 0.12 PAX4 rs712701 7:127611134:T:G 7 127611134 T G 7:127251188 0.998815 70235 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Social disorders starting during childhood or adolecense (more controls excluded) 0.000161 -0.7566 0.2005 Social disorders starting during childhood or adolecense (more controls excluded) 0.0002278 -0.444 0.12 PAX4 rs139309837 7:127611580:A:G 7 127611580 A G 7:127251634 0.990133 394 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Other disorders of bone density and structure 0.00156 5.7318 1.8115 Problems related to certain psychosocial circumstances 0.0001201 23.048 5.993 SND1 rs552710042 7:127652379:G:GTCCTCCGCGCAGAGCGGCGGC 7 127652379 G GTCCTCCGCGCAGAGCGGCGGC 7:127292433 0.991766 5255 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyp of the female genital tract 0.000531 0.2916 0.0842 Acute upper respiratory infections of multiple and unspecified sites 0.0006957 1.001 0.295 RBM28 rs148028531 7:128310804:T:C 7 128310804 T C 7:127950857 0.979194 325 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute nasopharyngitis(common cold) 0.000513 2.3855 0.6867 RBM28 rs73230638 7:128313185:G:A 7 128313185 G A 7:127953238 0.826151 74 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nasal polyp 0.000756 4.7755 1.4177 RBM28 rs142674151 7:128313243:G:A 7 128313243 G A 7:127953296 0.992135 336 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gestational [pregnancy-induced] hypertension 0.000498 2.3929 0.6872 RBM28 rs138703329 7:128323544:T:G 7 128323544 T G 7:127963597 0.992763 0.000770303 0 283 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chirrosis of liver, NAS 6.06e-05 8.9813 2.2395 IMPDH1 rs61751223 7:128396955:T:C 7 128396955 T C 7:128037009 0.954345 203 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at wrist and hand level 0.00101 3.1511 0.9581 IMPDH1 rs72624961 7:128396989:C:T 7 128396989 C T 7:128037043 0.988546 0.0013664 0 502 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormal blood-pressure reading, without diagnosis 8.46e-05 6.288 1.5996 IMPDH1 rs121912553 7:128400828:G:A 7 128400828 G A 7:128040882 0.998871 0.003514 6 1285 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Leber congenital amaurosis 11 Lymphoid leukaemia 7.74e-05 2.719 0.688 Other specified disorders of external ear 0.0001719 368.56 98.096 OPN1SW rs104894031 7:128775556:C:T 7 128775556 C T 7:128415610 0.987546 393 missense_variant dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Tritanopia Peptic ulcer 0.000592 12.6646 3.6868 0.0001626 -17.319 4.593 FLNC rs763039506 7:128838385:G:A 7 128838385 G A 7:128478439 0.97449 0.000990778 0 364 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified congenital malformation syndromes affecting multiple systems 3.2e-06 16.7944 3.6057 FLNC rs201905890 7:128840598:G:A 7 128840598 G A 7:128480652 0.986148 627 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not provided Other nutritional deficiencies 0.000255 0.8476 0.2317 Other infectious diseases 5.782e-05 34.394 8.553 FLNC rs34972246 7:128841524:A:C 7 128841524 A C 7:128481578 0.910774 0.00316559 8 1155 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified Injury of unspecified body region 9.56e-05 2.4723 0.6337 Lumbosacral root disorders, not elsewhere classified 0.0003763 164.634 46.295 FLNC rs192725607 7:128842234:G:A 7 128842234 G A 7:128482288 0.991036 411 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Localized scleroderma [morphea] 0.000141 11.5227 3.0271 FLNC rs146953558 7:128845186:C:T 7 128845186 C T 7:128485240 0.965913 4442 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified Acute laryngitis and tracheitis 0.000618 0.5648 0.165 Other and unspecified injuries of shoulder and upper arm 0.0002828 19.296 5.315 FLNC rs2291569 7:128848680:G:A 7 128848680 G A 7:128488734 0.995032 26775 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Mixed hyperlipidaemia 0.000185 0.4979 0.1332 Other and unspecified mononeuropathies of lower limb 0.0004595 1.368 0.39 FLNC rs200178370 7:128849522:G:A 7 128849522 G A 7:128489576 0.98332 457 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute appendicitis 0.000591 0.6535 0.1902 FLNC rs200792813 7:128849997:G:A 7 128849997 G A 7:128490051 0.983168 177 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Special screening examination for neoplasms 0.000147 6.8466 1.8036 FLNC rs200001272 7:128850396:C:G 7 128850396 C G 7:128490450 0.816706 151 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of eyelid in diseases classified elsewhere 0.000411 12.7907 3.6205 FLNC rs181067717 7:128851270:C:T 7 128851270 C T 7:128491324 0.987085 0.0017883 12 645 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy, familial hypertrophic, 26;Dilated Cardiomyopathy, Dominant;Myofibrillar myopathy, filamin C-related;Myopathy, distal, 4;not specified Benign neoplasm: Oesophagus (other cancers excluded from controls) 4.31e-05 10.8505 2.6529 0.001524 56.478 17.816 FLNC rs184018403 7:128851336:A:G 7 128851336 A G 7:128491390 0.878374 163 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Secondary right heart disease 0.000628 10.7532 3.1451 FLNC rs202128602 7:128851550:G:A 7 128851550 G A 7:128491604 0.946842 336 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified cerebrovascular diseases, other cerebrovascular disorders in diseases classified elsewhere 0.000643 4.1927 1.2286 FLNC rs747796553 7:128852828:G:T 7 128852828 G T 7:128492882 0.881118 121 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter CR(E)ST syndrome 0.0014 18.4678 5.7793 FLNC rs202223616 7:128854493:G:A 7 128854493 G A 7:128494547 0.988386 613 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spinal stenosis 0.00525 0.6734 0.2412 FLNC rs766740877 7:128854550:G:A 7 128854550 G A 7:128494604 0.967748 0.000688645 0 253 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified disorders of kidney and ureter 2.79e-05 10.6916 2.5516 FLNC rs201672146 7:128854868:G:A 7 128854868 G A 7:128494922 0.987255 637 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholesteatoma of middle ear 0.000189 3.2076 0.8593 IRF5 rs781133285 7:128947297:CACTCTGCAGCCGCCCACTCTGCGGCCGCCT:C 7 128947297 CACTCTGCAGCCGCCCACTCTGCGGCCGCCT C 7:128587351 0.997661 91566 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of thorax 0.00033 0.3318 0.0924 Spinal osteochondrosis 0.0001321 0.397 0.104 TNPO3 rs1154329 7:128990173:C:T 7 128990173 C T 7:128630227 0.997177 0.870004 278012 41617 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other systemic involvement of connective tissue (FG) 1.16e-05 0.1734 0.0395 Other systemic involvement of connective tissue (FG) 5.778e-06 0.099 0.022 SMO rs111694017 7:129205670:G:A 7 129205670 G A 7:128845511 0.987734 2577 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other diseases of appendix 0.000708 3.322 0.981 Symptoms and signs involving emotional state 0.002094 40.369 13.122 SMO rs34545616 7:129212026:C:T 7 129212026 C T 7:128851867 0.990339 949 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Sequelae of injuries of upper limb 0.000247 1.7508 0.4777 0 2.763 0 SMO rs116640950 7:129212180:C:G 7 129212180 C G 7:128852021 0.919117 303 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corns and callosities 0.000202 4.2681 1.1485 SMO rs142495470 7:129212264:G:A 7 129212264 G A 7:128852105 0.986216 1008 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of colon, rectum, anus and anal canal (other cancers excluded from controls) 0.000353 -0.6053 0.1694 CPA4 rs145012020 7:130308381:G:A 7 130308381 G A 7:129948221 0.991005 317 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital obstructive defects of renal pelvis and congenital malformations of ureter 0.000108 11.5983 2.9958 CPA1 rs150653308 7:130381853:C:T 7 130381853 C T 7:130021694 0.992813 3304 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retention of urine 0.00161 0.4049 0.1284 Injury of muscle and tendon at hip and thigh level 0.002225 7.199 2.354 CPA1 rs34474469 7:130383720:G:A 7 130383720 G A 7:130023561 0.982453 11498 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructive hydrocephalus 0.000647 1.3097 0.3839 !Aliquae complicationes praecoces traumatis 0.000495 4.084 1.172 CEP41 rs143303575 7:130401907:G:C 7 130401907 G C 7:130041748 0.986604 1446 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Joubert syndrome;not specified Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 0.00036 1.4023 0.393 Other abnormalities of plasma proteins 0.0002974 242.162 66.941 PODXL rs55698400 7:131511158:T:G 7 131511158 T G 7:131195917 0.96981 4161 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Chronic tubulo-interstitial nephritis 0.00132 0.996 0.3102 Urehtritis and urethral syndrome 6.814e-05 35.011 8.791 PLXNA4 rs112682233 7:132241157:C:T 7 132241157 C T 7:131925916 0.998417 0.00908848 42 3297 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified myopathies 6.52e-06 1.308 0.2901 Unspecified acute lower respiratory infection 0.0003733 6.363 1.788 PLXNA4 rs142997259 7:132489393:C:T 7 132489393 C T 7:132174152 0.991549 4439 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 0.000819 0.5821 0.174 Outcome of delivery 0.0004625 2.417 0.69 PLXNA4 rs142386862 7:132489414:C:T 7 132489414 C T 7:132174173 0.968385 8392 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple delivery 0.000153 0.7561 0.1997 Episcleritis 0.001299 4.426 1.376 PLXNA4 rs145024048 7:132508576:A:G 7 132508576 A G 7:132193335 0.973949 1169 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Scoliosis 0.000449 1.6816 0.4792 EXOC4 rs149782824 7:133817458:G:A 7 133817458 G A 7:133502211 0.987956 4106 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Antepartum haemorrhage, not elsewhere classified 0.000348 0.8632 0.2413 Dislocation, sprain and strain of joint and ligaments of hip 2.216e-06 34.133 7.212 CALD1 rs140355865 7:134933133:G:A 7 134933133 G A 7:134617884 0.985391 0.000895511 0 329 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative colitis ( strict definition, all Crohn cases excluded) 5.32e-05 2.8368 0.702 CALD1 rs75358773 7:134933176:G:A 7 134933176 G A 7:134617927 0.987383 557 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other coagulation defects 5e-04 3.0651 0.8806 AGBL3 rs117732894 7:134993576:C:T 7 134993576 C T 7:134678327 0.96046 3108 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other retinal artery occlusion 0.000138 2.5274 0.6631 Benign neoplasm: Colon 1.409e-05 4.426 1.019 AGBL3 rs117168663 7:135045501:C:T 7 135045501 C T 7:134730252 0.992274 2713 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic thrombocytopenic purpura 0.000509 1.8712 0.5384 Acute sinusitis 0.0002572 4.129 1.13 NUP205 rs61751960 7:135577086:A:G 7 135577086 A G 7:135261834 0.96746 1051 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertrophy of (infrapatellar) fat pad 0.00158 5.2628 1.6654 NUP205 rs78254699 7:135606901:A:G 7 135606901 A G 7:135291649 0.995832 260 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhagic and haematological disorders of fetus and newborn 0.00181 15.1446 4.8554 NUP205 rs145671518 7:135616035:C:G 7 135616035 C G 7:135300783 0.989298 0.00328263 8 1198 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other nutritional anaemias 4.68e-05 7.1391 1.7537 Other specified disorders of muscle 0.0009126 85.443 25.766 CHRM2 rs76394680 7:137015556:G:A 7 137015556 G A 7:136700303 0.972023 0.00455921 6 1669 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dilated Cardiomyopathy, Dominant;not specified Other disorders of eye and adnexa 1.1e-05 1.3801 0.3139 Malignant neoplasm of pancreas 0.002338 40.344 13.255 CHRM2 rs138806839 7:137015979:C:G 7 137015979 C G 7:136700726 0.983455 0.00290701 2 1066 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Personality disorders (more controls excluded) 8.36e-05 1.0665 0.2711 AKR1D1 rs201752860 7:138088656:G:A 7 138088656 G A 7:137773402 0.989563 702 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Secondary hypertension 0.00066 1.9245 0.5651 AKR1D1 rs199535210 7:138088740:G:A 7 138088740 G A 7:137773486 0.985541 262 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Lesion of sciatic nerve 0.000232 5.0326 1.367 TRIM24 rs61751967 7:138580592:C:G 7 138580592 C G 7:138265337 0.988048 3591 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatographic urticaria 0.000359 1.1299 0.3166 Localized scleroderma [morphea] 0.001222 71.875 22.227 SVOPL rs117871806 7:138656474:G:A 7 138656474 G A 7:138341219 0.958663 0.000519886 0 191 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic ileus and intestinal obstruction 3.43e-05 3.0001 0.7241 ATP6V0A4 rs150777839 7:138722001:C:A 7 138722001 C A 7:138406746 0.925412 579 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 0.000835 0.4165 0.1246 ATP6V0A4 rs3807153 7:138733046:A:G 7 138733046 A G 7:138417791 0.985532 0.0350011 424 12435 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Distal Renal Tubular Acidosis, Recessive;Renal tubular acidosis, distal, autosomal recessive;not specified Neuromuscular dysfuntion of bladder 1.34e-05 0.5766 0.1325 Coeliac disease 0.000381 1.61 0.453 ATP6V0A4 rs10258719 7:138771243:A:G 7 138771243 A G 7:138455988 0.996187 68523 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of eye, brain and central nervous system (other cancers excluded from controls) 0.000623 0.1658 0.0484 Pneumonia due to Streptococcus pneumoniae 0.0005659 0.16 0.046 KIAA1549 rs546465395 7:138918770:G:A 7 138918770 G A 7:138603516 0.989135 849 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of lung 0.000804 6.685 1.9947 Congenital malformations of cardiac septa 0.0008109 98.561 29.429 KIAA1549 rs79731548 7:138918968:C:G 7 138918968 C G 7:138603714 0.965897 6575 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neuralgia and neuritis, unspecified 0.000458 0.8745 0.2496 Other special examinations and investigations of persons without complaint or reported diagnosis 7.2e-05 0.662 0.167 UBN2 rs117922287 7:139231908:G:T 7 139231908 G T 7:138916654 0.944547 377 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of uterus 0.000358 2.5543 0.7157 UBN2 rs141209093 7:139231951:G:C 7 139231951 G C 7:138916697 0.960952 3670 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other intervertebral disc disorders 0.00128 -0.2128 0.066 conjunctival haemorrhage 2.501e-05 14.607 3.466 UBN2 rs75136253 7:139261550:A:G 7 139261550 A G 7:138946296 0.969129 373 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of uterus 0.000341 2.5687 0.7171 TBXAS1 rs6138 7:139872324:G:A 7 139872324 G A 7:139572123 0.998391 0.00268925 6 982 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Endocrine disorders, other/unspecified 6.87e-05 6.5406 1.643 Other abnormal uterine and caginal bleeding 0.0004418 2.743 0.781 TBXAS1 rs137946697 7:139955542:C:G 7 139955542 C G 7:139655341 0.952709 490 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other diseases of appendix 0.00143 8.6296 2.7063 TBXAS1 rs4529 7:139962165:C:G 7 139962165 C G 7:139661964 0.876177 332 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anisometropia and aniseikonia 0.00157 6.3199 1.9989 TBXAS1 rs3735354 7:140007115:G:A 7 140007115 G A 7:139706915 0.994302 1364 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Carcinoma in situ of skin of trunk (other cancers excluded from controls) 0.00187 3.8623 1.2417 Other aneurysm 0.0005496 142.465 41.23 TBXAS1 rs8192868 7:140015841:G:A 7 140015841 G A 7:139715641 0.992464 0.00815487 38 2958 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Guttate psoriasis 3.87e-05 3.6883 0.8963 0.001039 1.012 0.309 TBXAS1 rs5763 7:140015845:C:A 7 140015845 C A 7:139715645 0.997965 0.0131414 64 4764 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Male infertility 3.83e-05 1.3757 0.3341 0.0002235 7.338 1.988 TBXAS1 rs41311778 7:140017700:G:A 7 140017700 G A 7:139717500 0.954487 772 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Wide developmental disorders (more controls excluded) 0.000493 5.6886 1.6324 Benign neoplasm: Choroid 0.0008307 104.387 31.232 AGK rs145805257 7:141611228:G:C 7 141611228 G C 7:141311028 0.88816 217 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Personal history of certain other diseases 0.000172 17.1117 4.5553 TAS2R38 rs10246939 7:141972804:T:C 7 141972804 T C 7:141672604 0.998459 85904 missense_variant dominant drug response drug response no assertion criteria provided no_Criteria Thyrotoxicosis with toxic multinodular goitre 0.00021 0.2223 0.06 Pain in throat and chest 0.001154 0.039 0.012 TAS2R38 rs713598 7:141973545:C:G 7 141973545 C G 7:141673345 0.992858 83224 missense_variant dominant drug response drug response no assertion criteria provided no_Criteria Thyrotoxicosis with toxic multinodular goitre 0.000524 0.2117 0.061 Injuries to the abdomen, lower back, lumbar spine and pelvis 0.000561 -0.079 0.023 MGAM rs185053832 7:142063511:C:A 7 142063511 C A 7:141763311 0.920104 6160 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of the puerperium, not elsewhere classified 0.000121 1.1272 0.2932 Malignant neoplasm of brain 0.0001191 9.647 2.507 PRSS1 rs201775810 7:142751856:C:T 7 142751856 C T 7:142459707 0.977273 0.00102889 0 378 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transient ischemic attack 9.04e-06 1.3572 0.3057 KEL rs8176058 7:142957921:G:A 7 142957921 G A 7:142655008 0.994143 7821 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria KELL K/k BLOOD GROUP POLYMORPHISM Special screening examination for other diseases and disorders 0.000787 0.4689 0.1397 Abnormal involuntary movements 0.000167 3.527 0.937 PIP rs75076193 7:143139553:C:T 7 143139553 C T 7:142836646 0.984724 8322 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with renal complications 0.000567 -0.5359 0.1555 0.001068 1.693 0.517 CLCN1 rs146160029 7:143316298:A:C 7 143316298 A C 7:143013391 0.989117 275 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Failed attempted abortion 0.000661 11.2474 3.303 CLCN1 rs10282312 7:143320714:G:T 7 143320714 G T 7:143017807 0.965502 7502 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other extrapyramidal and movement disorders+ in other diseases 0.000157 0.4845 0.1282 Other extrapyramidal and movement disorders+ in other diseases 0.000177 0.245 0.065 CLCN1 rs118066140 7:143330817:G:A 7 143330817 G A 7:143027910 0.984733 0.00190806 0 701 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Muscle strain 3.14e-05 6.0608 1.4558 CLCN1 rs121912799 7:143332490:T:G 7 143332490 T G 7:143029583 0.966259 689 missense_variant both Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital myotonia, autosomal dominant form;Congenital myotonia, autosomal dominant form;Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal recessive form;not provided Elevated blood glucose level 0.000539 2.6335 0.7609 Campylobacter enteritis 0.0007182 108.048 31.943 CLCN1 rs41276054 7:143332781:G:A 7 143332781 G A 7:143029874 0.983418 1655 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital myotonia, autosomal dominant form;Congenital myotonia, autosomal recessive form;Myotonia congenita;not specified Sequelae of injuries, of poisoning and of other consequences of external causes 0.00064 0.6928 0.2029 Entropion and trichiasis of eyelid 7.9e-05 26.201 6.638 CLCN1 rs201218706 7:143345580:C:T 7 143345580 C T 7:143042673 0.973034 4943 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conductive hearing loss, unspecified 0.000531 0.6944 0.2004 Alcohol abuse, main dg (more controls excluded) 0.001917 3.552 1.145 CLCN1 rs13438232 7:143346147:C:T 7 143346147 C T 7:143043240 0.996322 87602 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism,other/unspecified 0.00102 -0.0404 0.0123 Complications associated with artificial fertilization 0.0003512 0.393 0.11 CLCN1 rs55960271 7:143351678:C:T 7 143351678 C T 7:143048771 0.995509 0.0165928 106 5990 pLoF both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital myotonia, autosomal dominant form;Congenital myotonia, autosomal dominant form;Congenital myotonia, autosomal recessive form;Congenital myotonia, autosomal recessive form;EMG: myopathic abnormalities;Muscular Diseases;Myotonia congenita;not provided Diseases of the myoneural junction and muscle 1.89e-05 0.7107 0.1661 Diseases of the myoneural junction and muscle 3.665e-14 13.073 1.726 NOBOX rs77802098 7:144397325:T:C 7 144397325 T C 7:144094418 0.990985 0.0442965 762 15512 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Premature ovarian failure;not specified Melanocytic naevi, other sites/unspecified 7.06e-05 0.5865 0.1476 Cyst of kidney 0.0003211 2.37 0.659 NOBOX rs1208216 7:144397520:G:T 7 144397520 G T 7:144094613 0.996554 47698 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pyogenic arthritis 0.000138 -0.2641 0.0693 Other/unspecified disorders of vestibular function 0.0007341 0.664 0.197 NOBOX rs2699503 7:144398507:A:G 7 144398507 A G 7:144095600 0.996439 91468 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of calcium metabolism 0.000308 0.2292 0.0635 Disorders of calcium metabolism 0.0006729 0.176 0.052 NOBOX rs2525702 7:144398975:C:T 7 144398975 C T 7:144096068 0.996557 47702 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pyogenic arthritis 0.00014 -0.2639 0.0693 Other/unspecified disorders of vestibular function 0.0007345 0.664 0.197 NOBOX rs112190116 7:144399065:C:T 7 144399065 C T 7:144096158 0.981009 3647 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Premature ovarian failure;not specified Any mental disorder, or suicide (or attempt), or psychic disorders complicating pregnancy, partum or puerperum or nerve system disorders 0.000457 -0.1619 0.0462 Injuries to unspecified part of trunk, limb or body region 2.504e-05 15.413 3.657 NOBOX rs201806397 7:144401436:C:T 7 144401436 C T 7:144098529 0.991738 2778 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Premature ovarian failure Cough 0.000169 0.41 0.109 Other/unspecified reactive arthropathies 0.0003442 16.535 4.619 TPK1 rs77358162 7:144765897:C:T 7 144765897 C T 7:144462990 0.968353 0.00915925 30 3335 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type);not provided;not specified Dissection of aorta 4.44e-05 1.9053 0.4666 Benign neoplasm: Transverse colon 0.0004793 13.946 3.994 CNTNAP2 rs200866893 7:146116949:G:A 7 146116949 G A 7:145814041 0.940586 575 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autism 15;History of neurodevelopmental disorder;Pitt-Hopkins-like syndrome 1;Pitt-Hopkins-like syndrome 1;not provided Unspecified fall 0.000128 10.8745 2.8397 Female infertility, associated with anovulation 0.004615 25.619 9.044 CNTNAP2 rs139694086 7:146839902:T:G 7 146839902 T G 7:146536994 0.893432 88 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Keratitis and keratoconjunctivitis in other diseases classified elsewhere 0.000347 15.404 4.3059 CNTNAP2 rs138738227 7:147043983:G:A 7 147043983 G A 7:146741075 0.971727 192 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of thyroid gland (other cancers excluded from controls) 0.000317 6.0566 1.6818 CNTNAP2 rs150918383 7:147121078:G:C 7 147121078 G C 7:146818170 0.978914 4007 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Pitt-Hopkins-like syndrome 1;not provided;not specified Hypoglycaemia, other or unspecified 0.000779 0.8609 0.2562 0.0001583 24.802 6.565 CNTNAP2 rs200610099 7:147903671:C:A 7 147903671 C A 7:147600763 0.989097 2452 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Seropositive rheumatoid arthritis, strict definition 0.000771 1.0907 0.3243 Other and specified injuries of hip and thigh 9.285e-06 88.429 19.947 CNTNAP2 rs758630057 7:148147587:G:A 7 148147587 G A 7:147844679 0.946164 1019 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Rolandic epilepsy;not provided;not specified Intestinal adhesions without obstruction 0.00112 1.7477 0.5365 Hypersensitivity pneumonitis due to organic dust 0.001469 61.163 19.229 CNTNAP2 rs202095023 7:148147641:C:T 7 148147641 C T 7:147844733 0.98996 1449 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Universal eryhrodermia, KELA reimbursement 0.000859 5.0055 1.5018 Hypothyroidism (congenital or acquired) 0 3.996 0 EZH2 rs2302427 7:148828812:C:G 7 148828812 C G 7:148525904 0.99766 29895 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Weaver syndrome;not specified Diseases of male genital organs 0.00152 0.07 0.0221 Keratoconus 3.372e-06 2.32 0.499 PDIA4 rs140513316 7:149012254:T:C 7 149012254 T C 7:148709346 0.944362 444 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 0.000271 11.7418 3.2247 ACTR3C rs78661149 7:150286477:G:A 7 150286477 G A 7:149983566 0.985563 28214 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Viral pneumonia 0.000659 0.4059 0.1192 Viral pneumonia 4.16e-05 1.395 0.34 AOC1 rs200005221 7:150857396:G:C 7 150857396 G C 7:150554484 0.989167 201 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the thorax 0.000113 1.9014 0.4926 KCNH2 rs36210421 7:150947340:C:A 7 150947340 C A 7:150644428 0.998757 23042 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiac arrhythmia;Cardiovascular phenotype;Long QT syndrome;Long QT syndrome 2;Sudden unexplained death;Torsades de pointes;not provided;not specified Eating disorders 0.000113 0.2926 0.0758 Oesophagitis 3.96e-05 1.477 0.359 KCNH2 rs199473025 7:150947347:G:A 7 150947347 G A 7:150644435 0.955151 4512 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arrhythmogenic right ventricular cardiomyopathy;Congenital long QT syndrome;Long QT syndrome;Primary dilated cardiomyopathy Follow-up examination after treatment for conditions other than malignant neoplasms 0.000184 -0.2715 0.0726 Diverticular disease of intestine 3.998e-05 2.022 0.492 KCNH2 rs76649554 7:150947630:T:C 7 150947630 T C 7:150644718 0.931173 161 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of inner ear 0.00106 1.5979 0.4882 KCNH2 rs138776684 7:150957380:G:A 7 150957380 G A 7:150654468 0.987486 151 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of anus and rectum 0.00233 1.7729 0.5823 KCNH2 rs199473505 7:150957437:G:A 7 150957437 G A 7:150654525 0.998037 0.00384607 8 1405 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Long QT syndrome;not provided;not specified Other and unspecified injuries of thorax 3.8e-05 5.9076 1.4341 Pulmonary eosinophilia, not elsewhere classified 0.0005614 139.269 40.372 KCNH2 rs36210422 7:150958449:G:A 7 150958449 G A 7:150655537 0.84375 489 missense_variant dominant Conflicting interpretations of pathogenicity, risk factor risk factor criteria provided, conflicting interpretations Criteria_multSubmitter Abnormal involuntary movements 0.000691 2.5626 0.7552 KCNH2 rs776541110 7:150958451:G:T 7 150958451 G T 7:150655539 0.90092 70 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy 0.00114 5.6001 1.7219 NOS3 rs148359917 7:150996516:G:A 7 150996516 G A 7:150693604 0.995754 3553 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sensorineural hearing loss 0.000145 0.2676 0.0704 Other specified disorders of external ear 0.0004464 15.072 4.293 NOS3 rs149539813 7:150998988:G:A 7 150998988 G A 7:150696076 0.992234 3478 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Biliary chirrosis, primary 0.000339 2.1625 0.6034 Any death 0.0007803 1.376 0.41 NOS3 rs1799983 7:150999023:T:G 7 150999023 T G 7:150696111 0.994863 73182 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of skin of trunk 0.00161 0.4184 0.1326 Chronic diseases of tonsils and adenoids 4.037e-05 0.035 0.008 NOS3 rs150935488 7:151001261:G:A 7 151001261 G A 7:150698349 0.978452 3413 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tubulo-interstitial nephritis, not spesified as acute or chronic 0.000102 1.0702 0.2755 Cellulitis 0.0002251 7.566 2.051 NOS3 rs79467411 7:151003203:G:A 7 151003203 G A 7:150700291 0.98735 30052 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other hearing loss 0.000152 0.1726 0.0456 Other hearing loss 2.003e-05 0.446 0.105 ABCB8 rs117793104 7:151033879:C:G 7 151033879 C G 7:150730966 0.955036 2611 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary coxarthrosis, bilateral 0.000711 0.5433 0.1605 Metatarsalgia 0.0006088 12.256 3.576 ASIC3 rs145775749 7:151049265:G:A 7 151049265 G A 7:150746352 0.885547 7260 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal scars and opacities 0.000881 1.3696 0.4118 Ulcerative proctitis 0.0004986 7.423 2.132 ASIC3 rs114024820 7:151050809:C:T 7 151050809 C T 7:150747896 0.985314 1009 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of nervous system 0.000148 2.4525 0.6464 ASB10 rs62489646 7:151176667:G:A 7 151176667 G A 7:150873754 0.997474 26819 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Subacute thyroiditis 0.000193 0.5551 0.1489 Other acute lower respiratory infections 0.0001596 0.273 0.072 ASB10 rs151344612 7:151180964:C:T 7 151180964 C T 7:150878051 0.812545 67 missense_variant unknown not provided not_provided no assertion provided none Pregnancy with abortive outcome 0.000119 1.9101 0.4963 ASB10 rs104886481 7:151181057:G:A 7 151181057 G A 7:150878144 0.993475 345 missense_variant unknown not provided not_provided no assertion provided none Alopecia areata 0.000461 7.7404 2.21 ASB10 rs61735130 7:151181133:G:A 7 151181133 G A 7:150878220 0.993055 2679 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glaucoma 1, open angle, F Cardiomyopathy (excluding other) 0.000539 0.7529 0.2176 Granuloma annulare 0.001771 52.625 16.834 ASB10 rs61735708 7:151181334:G:C 7 151181334 G C 7:150878421 0.887827 376 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at ankle and foot level 0.000454 8.7365 2.4916 ASB10 rs104886488 7:151186916:C:T 7 151186916 C T 7:150884003 0.985375 694 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arterial embolism and thrombosis 0.00012 5.6921 1.4799 ASB10 rs104886462 7:151187668:G:A 7 151187668 G A 7:150884755 0.979905 743 missense_variant unknown not provided not_provided no assertion provided none Glaucoma 1, open angle, F Carcinoma in situ of breast (other cancers excluded from controls) 0.000832 2.198 0.6577 Disorders of oesophagus in diseases classified elsewhere 0.0004175 156.647 44.392 CHPF2 rs117332591 7:151235545:G:A 7 151235545 G A 7:150932631 0.986048 9099 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Post-traumatic stress disorder 0.000254 0.6272 0.1715 Malignant neoplasm of brain 0.000619 6.782 1.981 CHPF2 rs144589067 7:151237741:G:A 7 151237741 G A 7:150934827 0.84436 84 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma, unspecified (mode) (more controls excluded) 0.000129 2.7919 0.7293 NUB1 rs61734185 7:151345361:G:T 7 151345361 G T 7:151042447 0.972943 0.013155 116 4717 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endocrine, nutritional and metabolic diseases 9.04e-05 -0.1409 0.036 Pleural effusion 0.002038 3.726 1.208 GALNTL5 rs75797831 7:151987209:G:A 7 151987209 G A 7:151684294 0.986329 9197 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter KELA_REIMBURSEMENT_202 0.000155 -0.2028 0.0536 Chronic suppurative otitis media 0.003466 3.1 1.061 GALNTL5 rs61729482 7:151987240:G:C 7 151987240 G C 7:151684325 0.96706 170 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Drug-induced hypoglycaemia without coma 0.000168 17.9236 4.7634 GALNT11 rs146627996 7:152094280:C:T 7 152094280 C T 7:151791365 0.958427 403 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Examination and encounter for administrative purposes 0.00103 10.4776 3.1921 Other obstetric trauma 0.001315 61.728 19.213 KMT2C rs139111507 7:152151453:G:C 7 152151453 G C 7:151848538 0.96085 500 missense_variant dominant not provided not_provided no assertion provided none Helminthiases 0.00138 5.6782 1.7746 KMT2C rs74483926 7:152162598:G:A 7 152162598 G A 7:151859683 0.977044 11006 missense_variant dominant not provided not_provided no assertion provided none not specified Unspecified chronic bronchitis 0.000463 -0.8017 0.229 Malignant neoplasm of lip, oral cavity and pharynx (other cancers excluded from controls) 0.002804 7.84 2.624 KMT2C rs148585727 7:152162814:G:A 7 152162814 G A 7:151859899 0.994457 2041 missense_variant dominant not provided not_provided no assertion provided none not specified Retained placenta and membranes, without haemorrhage 0.00031 1.2698 0.3521 Mild mental retardation 1.366e-05 73.071 16.801 KMT2C rs142835638 7:152163145:G:C 7 152163145 G C 7:151860230 0.985103 0.00477697 8 1747 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Bronchus and lung (other cancers excluded from controls) 2.7e-05 6.2603 1.4915 Benign neoplasm: Bronchus and lung (other cancers excluded from controls) 0.0002582 267.917 73.323 KMT2C rs61730545 7:152176208:G:A 7 152176208 G A 7:151873293 0.953985 534 missense_variant dominant not provided not_provided no assertion provided none Poisoning by drugs, medicaments and biological substances 0.000206 1.1494 0.3097 KMT2C rs149373512 7:152177496:G:C 7 152177496 G C 7:151874581 0.971632 6896 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Fibromyalgia 0.000577 0.849 0.2466 Functional dyspepsia 0.0003693 1.856 0.521 KMT2C rs13231116 7:152180042:G:T 7 152180042 G T 7:151877127 0.984789 6334 missense_variant dominant not provided not_provided no assertion provided none not specified Melanocytic naevi of lower limb, including hip (other cancers excluded from controls) 0.00126 0.9478 0.294 Abnormal findings on diagnostic imaging of other body structures 0.0003285 7.065 1.967 KMT2C rs142070663 7:152182273:G:C 7 152182273 G C 7:151879358 0.986581 264 missense_variant dominant not provided not_provided no assertion provided none Unspecified urinary incontinence 0.000546 3.4565 0.9998 KMT2C rs138119145 7:152205112:C:G 7 152205112 C G 7:151902197 0.968698 2467 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Melanoma in situ (other cancers excluded from controls) 0.00112 1.852 0.5681 Perineal laceration during delivery 0.0001638 14.458 3.836 KMT2C rs3735156 7:152251983:C:G 7 152251983 C G 7:151949068 0.999111 8015 missense_variant dominant not provided not_provided no assertion provided none not specified Other specified/unspecified disorders of bone/cartilage 0.00155 0.8486 0.2682 Nontoxic multinodular goitre 0.002171 1.816 0.592 KMT2C rs77652527 7:152252650:T:C 7 152252650 T C 7:151949735 0.993001 8758 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified corneal deformities and disorders 0.000243 0.9847 0.2684 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.001612 -0.497 0.158 XRCC2 rs770438650 7:152648660:A:C 7 152648660 A C 7:152345745 0.951761 0.000683201 2 249 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter ILD, hospital admissions 3, with pneumonia sepsis 1.32e-05 7.2707 1.6687 XRCC2 rs3218536 7:152648922:C:T 7 152648922 C T 7:152346007 0.996283 14016 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary cancer-predisposing syndrome Myocarditis 0.000733 0.5 0.1481 0.0007915 1.013 0.302 DPP6 rs117574002 7:154588017:A:G 7 154588017 A G 7:154379727 0.91006 558 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Traumatic subdural haemorrhage 0.000568 2.3297 0.6759 SHH rs104894047 7:155803420:C:T 7 155803420 C T 7:155596114 0.917937 2717 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Holoprosencephaly 3;SCHIZENCEPHALY;not provided;not specified Gestational diabetes (for exclusion) 0.000495 -0.4779 0.1372 Chondrocostal junction syndrome [Tietze] 0.0005054 35.959 10.339 LMBR1 rs6957768 7:156762136:T:C 7 156762136 T C 7:156554830 0.998224 19632 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Triphalangeal thumb polysyndactyly syndrome Hyperprolactinaemia 0.00149 0.4618 0.1453 Hypersensitivity pneumonitis due to organic dust 0.002131 2.534 0.825 DNAJB6 rs142974468 7:157416079:C:T 7 157416079 C T 7:157208773 0.982484 273 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Excessive vomiting in pregnancy 0.000691 5.0179 1.4789 PTPRN2 rs61757813 7:157540717:C:A 7 157540717 C A 7:157333411 0.810567 633 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Organic, including symptomatic, mental disorders 0.000154 0.83 0.2193 PTPRN2 rs55645575 7:158136678:C:T 7 158136678 C T 7:157929370 0.994968 0.00652716 24 2374 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nystagmus and other irregular eye movements 7.18e-05 4.4228 1.1139 Benign neoplasm: Stomach 0.00034 16.861 4.706 PTPRN2 rs77347072 7:158138311:C:T 7 158138311 C T 7:157931003 0.972324 1570 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early onset COPD 0.000409 0.8025 0.2271 Disorders of sclera, cornea, iris and ciliary body 0.0003483 5.923 1.656 PTPRN2 rs144856548 7:158167201:C:T 7 158167201 C T 7:157959893 0.94231 411 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ascites 0.000181 4.7902 1.2794 PTPRN2 rs140999965 7:158167251:G:C 7 158167251 G C 7:157959943 0.957871 3181 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of the musculoskeletal system and connective tissue 0.000164 0.7954 0.2111 Other acquired deformities of musculoskeletal system and connective tissue 0.0002496 19.513 5.328 NCAPG2 rs61752309 7:158675638:A:G 7 158675638 A G 7:158468330 0.883479 592 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute laryngitis and tracheitis 0.000164 2.0088 0.533 WDR60 rs78313003 7:158871562:G:A 7 158871562 G A 7:158664253 0.999492 20838 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Glomerular disorders in diseases classified elsewhere 0.000128 0.3178 0.083 Other specified congenital malformation syndromes affecting multiple systems 0.002083 2.476 0.804 WDR60 rs2709859 7:158879785:C:G 7 158879785 C G 7:158672476 0.955037 1296 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other/unspecified dorsalgia 0.000687 0.5894 0.1736 Other/unspecified dorsalgia 0.0006966 0.296 0.087 WDR60 rs2788478 7:158879928:A:G 7 158879928 A G 7:158672619 0.998137 86527 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD Co-morbidites, CVD and metabolic diseases 0.00013 0.0361 0.0094 Angina pectoris 0.0002634 0.056 0.015 WDR60 rs139730326 7:158887026:C:T 7 158887026 C T 7:158679717 0.971912 2591 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Short-rib thoracic dysplasia 8 with or without polydactyly Dronedarone medication 0.000111 2.0239 0.5237 Other/unspecified cytomegaloviral diseases 0.001426 59.489 18.652 WDR60 rs73167274 7:158934539:C:A 7 158934539 C A 7:158727230 0.994677 1589 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Short-rib thoracic dysplasia 8 with or without polydactyly Postpartum care and examination 0.000928 0.8188 0.2472 Other specified congenital malformation syndromes affecting multiple systems 0.0001782 372.561 99.4 VIPR2 rs147214125 7:159031954:C:T 7 159031954 C T 7:158824645 0.969459 542 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impingement syndrome of shoulder 0.000774 1.0959 0.326 CLN8 rs104894064 8:1771124:C:G 8 1771124 C G 8:1719290 0.889037 212 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lesion of sciatic nerve 0.000764 4.8469 1.4402 ARHGEF10 rs151080025 8:1860104:C:T 8 1860104 C T 8:1808270 0.95529 146 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Oher enthesopathy of foot (+metatarsalgia) 0.0018 5.1941 1.6639 ARHGEF10 rs9657362 8:1885635:G:C 8 1885635 G C 8:1833801 0.999248 38796 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of bone and articular cartilage (other cancers excluded from controls) 0.000184 -0.2693 0.072 Other heart diseases 0.001222 -0.098 0.03 ARHGEF10 rs2294039 8:1909425:G:A 8 1909425 G A 8:1857591 0.994719 0.0424837 772 14836 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Slowed nerve conduction velocity, autosomal dominant;not specified Infections with a predominantly sexual mode of transmission 4.49e-05 0.2141 0.0525 Convalescence 0.0003952 1.857 0.524 ARHGEF10 rs147531758 8:1923017:C:T 8 1923017 C T 8:1871183 0.987265 233 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other inflammation of vagina/vulva 0.000717 6.8071 2.0123 ARHGEF10 rs61752020 8:1928541:G:A 8 1928541 G A 8:1876707 0.946121 841 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Slowed nerve conduction velocity, autosomal dominant Toxic effect of carbon monoxide 0.00183 4.8115 1.5441 0.0004461 166.539 47.431 ARHGEF10 rs200779877 8:1956817:C:T 8 1956817 C T 8:1904983 0.959658 227 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of veins 0.000273 1.6862 0.4633 CSMD1 rs117633452 8:2966735:C:T 8 2966735 C T 8:2824257 0.96076 0.00452927 12 1652 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other renal tubulo-interstitial diseases 7.56e-05 3.268 0.8257 Procreative management 2.237e-05 10.49 2.474 CSMD1 rs190894161 8:3107772:G:C 8 3107772 G C 8:2965294 0.85201 203 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Temporomandibular joint disorders 0.000469 2.9939 0.856 CSMD1 rs147245019 8:3230165:C:G 8 3230165 C G 8:3087687 0.990589 1192 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acohol-induced acute pancreatitis 0.000191 3.2234 0.864 Open wound of head 0.002834 5.854 1.961 CSMD1 rs149028484 8:3284253:C:G 8 3284253 C G 8:3141775 0.805376 0.00038379 2 139 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathies 5.14e-05 -0.864 0.2134 MCPH1 rs61749465 8:6414832:A:G 8 6414832 A G 8:6272353 0.997132 3133 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary Microcephaly, Recessive;not specified Postmenopausal osteoporosis with pathological fracture 0.000139 1.535 0.4028 Cervical disc disorders 0.001246 2.622 0.812 MCPH1 rs41313952 8:6442150:T:C 8 6442150 T C 8:6299671 0.998522 462 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inflammatory diseases of prostate (prostatitis) 0.000757 2.0267 0.6018 MCPH1 rs35590577 8:6444585:C:A 8 6444585 C A 8:6302106 0.999389 11566 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary Microcephaly, Recessive;not provided;not specified Other general symptoms and signs 0.000193 0.7993 0.2144 Leiomyoma of uterus (other cancers excluded from controls) 0.0003926 -0.552 0.156 MCPH1 rs2083914 8:6444633:G:T 8 6444633 G T 8:6302154 0.998349 26351 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary Microcephaly, Recessive;Primary autosomal recessive microcephaly 1;not specified Other postsurgical states 0.00263 0.3558 0.1183 Other and unspecified iridocyclitis 0.001096 1.503 0.46 MCPH1 rs930557 8:6444662:G:C 8 6444662 G C 8:6302183 0.999752 40189 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Radial styloid tenosynovitis [de Quervain] 0.000481 0.312 0.0894 Diseases of inner ear 0.0001662 0.054 0.014 MCPH1 rs202241113 8:6444915:C:T 8 6444915 C T 8:6302436 0.9892 2421 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Maternal care for other known or suspected fetal problems 0.000802 0.5656 0.1687 0.0005017 -1.632 0.469 MCPH1 rs183880522 8:6445202:G:A 8 6445202 G A 8:6302723 0.978772 1271 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Desensitization to allergens 0.000385 2.3033 0.6488 Atrial fibrillation and flutter 0.0001612 1.918 0.508 MCPH1 rs12674488 8:6480785:C:A 8 6480785 C A 8:6338306 0.99663 31468 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary Microcephaly, Recessive;not specified Benign neoplasm: Spinal cord (other cancers excluded from controls) 0.00161 0.6405 0.203 0.002149 -0.411 0.134 MCPH1 rs200049022 8:6499917:C:A 8 6499917 C A 8:6357438 0.994485 1131 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personal history of certain other diseases 0.000563 5.3551 1.5528 Pyoderma 0.001176 74.453 22.947 ANGPT2 rs145141058 8:6514777:G:A 8 6514777 G A 8:6372298 0.967318 0.00403116 12 1469 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diaphragmatic hernia 8.28e-05 0.7255 0.1843 Short Achilles tendon (acquired) 0.001106 73.014 22.382 MCPH1 rs1057090 8:6621521:C:T 8 6621521 C T 8:6479042 0.998635 88919 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pneumonitis due to solids and liquids 0.000625 0.1882 0.055 Childhood allergy (age < 16) 0.001448 0.105 0.033 MCPH1 rs200820759 8:6621533:C:G 8 6621533 C G 8:6479054 0.895187 110 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter malignant neoplasm of male genital organs (other cancers excluded from controls) 0.000114 3.3063 0.857 MCPH1 rs45540031 8:6621640:A:G 8 6621640 A G 8:6479161 0.997459 3384 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary Microcephaly, Recessive;not provided;not specified Benign neoplasm: Larynx (other cancers excluded from controls) 0.000808 1.6197 0.4835 Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.0005125 1.65 0.475 MCPH1 rs1057091 8:6643023:C:T 8 6643023 C T 8:6500544 0.996582 75619 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of genitourinary prosthetic devices, implants and grafts 0.000654 0.3576 0.1049 Meniscus derangement 0.0004004 0.067 0.019 DEFA5 rs7839771 8:7055504:C:T 8 7055504 C T 8:6913026 0.935175 4588 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coronary angiopasty 0.00083 -0.3153 0.0943 Schizoid personality disorder 0.0002147 14.877 4.02 SGK223 rs150979349 8:8377352:CGCCGCT:C 8 8377352 CGCCGCT C 8:8234868 0.994979 91541 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Angina pectoris 5e-04 0.0527 0.0151 Infective dermatitis 4.394e-05 0.128 0.031 RP1L1 rs117007660 8:10607094:T:C 8 10607094 T C 8:10464604 0.948037 14525 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Occult macular dystrophy Parapsoriasis 0.000537 0.946 0.2733 AION (anterior ischemic optic neuropathy) 0.001322 4.404 1.371 RP1L1 rs147334256 8:10607106:G:A 8 10607106 G A 8:10464616 0.969212 0.000813853 0 299 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Syncope and collapse 1.43e-05 1.6509 0.3804 RP1L1 rs55642448 8:10607245:C:T 8 10607245 C T 8:10464755 0.987505 0.535537 106796 89954 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormal findings of blood chemistry 6.55e-05 -0.3735 0.0936 Osteomyelitis 0.0002279 0.166 0.045 RP1L1 rs183232880 8:10607286:G:C 8 10607286 G C 8:10464796 0.997695 5601 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Occult macular dystrophy Abnormal findings on diagnostic imaging of breast 0.00062 2.1148 0.6179 Acute and transient psychotic disorders 0.001627 3.112 0.988 RP1L1 rs183570817 8:10607553:G:T 8 10607553 G T 8:10465063 0.904489 652 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other enthesopathies 0.00014 1.1404 0.2995 RP1L1 rs4354268 8:10607587:C:T 8 10607587 C T 8:10465097 0.978453 0.385723 55496 86214 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute peritonitis 3.76e-05 0.2393 0.058 Allergic asthma (mode) (more controls excluded) 9.078e-06 -0.111 0.025 RP1L1 rs72494282 8:10607680:C:T 8 10607680 C T 8:10465190 0.995772 0.076279 2294 25730 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Occult macular dystrophy Peripheral atherosclerosis 1.01e-05 0.1956 0.0443 Angina pectoris 0.0002269 0.253 0.069 RP1L1 rs11783478 8:10608238:T:C 8 10608238 T C 8:10465748 0.985622 0.612249 138584 86349 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute peritonitis 3.61e-05 -0.2383 0.0577 Benign mammary dysplasia 8.154e-05 -0.091 0.023 RP1L1 rs202121941 8:10608385:C:T 8 10608385 C T 8:10465895 0.994008 1684 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Occult macular dystrophy;not provided Other diseases of biliary tract 0.00228 1.2671 0.4154 Radial styloid tenosynovitis [de Quervain] 0.001547 53.415 16.873 RP1L1 rs77968698 8:10608579:G:C 8 10608579 G C 8:10466089 0.993121 0.0290646 324 10354 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Occult macular dystrophy Complications of cardiac and vascular prosthetic devices, implants and grafts 7.58e-05 1.3565 0.3428 Abnormalities of breathing 0.003268 0.415 0.141 RP1L1 rs199701906 8:10608646:C:T 8 10608646 C T 8:10466156 0.97029 104 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Retinal vein occlusion (central or branch) 0.00252 13.8361 4.5802 RP1L1 rs79019225 8:10608651:C:T 8 10608651 C T 8:10466161 0.993084 0.0290674 324 10355 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Occult macular dystrophy Complications of cardiac and vascular prosthetic devices, implants and grafts 7.62e-05 1.3556 0.3427 Abnormalities of breathing 0.003232 0.415 0.141 RP1L1 rs141128719 8:10608814:C:T 8 10608814 C T 8:10466324 0.979089 0.00110782 0 407 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chlocystitis 1.48e-06 3.3574 0.6975 RP1L1 rs13267180 8:10608972:G:A 8 10608972 G A 8:10466482 0.986632 0.393034 57682 86714 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute peritonitis 2.64e-05 0.2419 0.0576 Allergic asthma (mode) (more controls excluded) 1.179e-05 -0.107 0.024 RP1L1 rs151260617 8:10609233:C:T 8 10609233 C T 8:10466743 0.950255 1071 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Occult macular dystrophy;not provided Wide developmental disorders 0.00203 3.1408 1.0176 Dystonia 0.001452 58.111 18.25 RP1L1 rs202068070 8:10609584:G:A 8 10609584 G A 8:10467094 0.902499 162 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hemiplegia 0.00128 6.0005 1.863 RP1L1 rs4841399 8:10609614:G:C 8 10609614 G C 8:10467124 0.983911 0.361669 48130 84743 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tubulo-interstitial nephritis, not spesified as acute or chronic 7.09e-05 0.2049 0.0516 Other specified/unspecified disorders of bone/cartilage 5.961e-06 0.392 0.086 RP1L1 rs62490855 8:10609650:G:A 8 10609650 G A 8:10467160 0.997027 52441 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Convulsions, not elsewhere classified 0.000119 0.1253 0.0326 0.0002773 0.764 0.21 RP1L1 rs190000469 8:10609654:C:T 8 10609654 C T 8:10467164 0.970127 0.000819297 0 301 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypo-osmolality and hyponatraemia 4.69e-05 3.1222 0.767 RP1L1 rs573452545 8:10610141:C:CCTCTCTTCTT 8 10610141 C CCTCTCTTCTT 8:10467651 0.896837 15064 LC dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of lung 0.000387 -0.1929 0.0543 Other and unspecified injuries of head 0.001189 2.805 0.865 RP1L1 rs4840502 8:10610662:G:A 8 10610662 G A 8:10468172 0.977812 63758 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Metabolic disorders 0.000428 -0.0507 0.0144 Carcinoma in situ of skin of other and unspecified parts of face (other cancers excluded from controls) 0.002058 0.142 0.046 RP1L1 rs200477735 8:10610835:G:A 8 10610835 G A 8:10468345 0.908915 265 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter COPD/asthma related pneumonia or pneumonia derived septichaemia 0.000128 0.8001 0.2089 RP1L1 rs200854148 8:10611171:G:A 8 10611171 G A 8:10468681 0.873941 281 missense_variant dominant not provided not_provided no assertion provided none Systemic lupus erythematosus 0.00153 5.7046 1.8 RP1L1 rs201302817 8:10611199:C:T 8 10611199 C T 8:10468709 0.942504 79 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other/unspecified enthesopathies of lower limb, excluding foot 0.00112 9.3383 2.8658 RP1L1 rs62490856 8:10611520:G:A 8 10611520 G A 8:10469030 0.993558 47528 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormal findings of blood chemistry 0.000108 -0.5011 0.1294 Hypertension 0.0001761 0.085 0.023 RP1L1 rs199746022 8:10611715:C:T 8 10611715 C T 8:10469225 0.977863 1365 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Keratitis and keratoconjunctivitis in other diseases classified elsewhere 0.00241 2.1415 0.7056 RP1L1 rs35602868 8:10611723:A:G 8 10611723 A G 8:10469233 0.983609 0.4426 72938 89668 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nontoxic multinodular goitre 6.69e-05 -0.1163 0.0292 Episodal and paroxysmal disorders 0.0001579 -0.03 0.008 RP1L1 rs181556707 8:10611944:G:T 8 10611944 G T 8:10469454 0.911654 132 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydronephrosis 0.000905 5.5415 1.6699 RP1L1 rs200344135 8:10612336:C:A 8 10612336 C A 8:10469846 0.942039 196 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cramp and spasm 0.000402 8.005 2.262 RP1L1 rs74990397 8:10612558:C:T 8 10612558 C T 8:10470068 0.980886 0.414221 63970 88210 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD-related respiratory insufficiency 4.95e-05 -0.1027 0.0253 Episodal and paroxysmal disorders 3.952e-05 -0.034 0.008 RP1L1 rs74400517 8:10612638:G:A 8 10612638 G A 8:10470148 0.963345 26432 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Occult macular dystrophy Phakomatoses, not elsewhere classified 0.000888 0.8724 0.2625 Disorders of optic nerve and visual pathways 0.001161 0.697 0.215 RP1L1 rs4388421 8:10616532:T:G 8 10616532 T G 8:10474042 0.975795 0.134841 6818 42721 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter COPD, hospital admissions 7.09e-05 0.1266 0.0319 0.0007578 0.104 0.031 RP1L1 rs202110498 8:10622634:G:A 8 10622634 G A 8:10480144 0.982231 493 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of eyelid, lacrimal system and orbit 0.000168 0.729 0.1937 RP1L1 rs187140236 8:10622715:G:C 8 10622715 G C 8:10480225 0.953055 159 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Systemic atrophies primarly affecting the central nervous system 0.00125 9.0431 2.8017 RP1L1 rs201192645 8:10622785:T:TG 8 10622785 T TG 8:10480295 0.926424 0.00360654 4 1321 pLoF dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Occult macular dystrophy Personal history of risk-factors, not elsewhere classified 4.52e-05 6.228 1.5268 Hypothyroidism (congenital or acquired) 0 2.906 0 RP1L1 rs189960401 8:10622795:C:T 8 10622795 C T 8:10480305 0.831358 878 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sicca syndrome [Sjogren] 0.000269 2.0748 0.5695 RP1L1 rs566311667 8:10622875:G:GA 8 10622875 G GA 8:10480385 0.962401 3094 pLoF dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Sequelae of infectious and parasitic diseases 0.000275 0.9126 0.2508 Inguinal hernia 0.0005783 1.563 0.454 RP1L1 rs150931842 8:10623036:G:A 8 10623036 G A 8:10480546 0.89289 266 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arthropod-borne viral fevers and viral haemorrhagic fevers 0.000326 3.4501 0.96 RP1L1 rs140397694 8:10623072:G:C 8 10623072 G C 8:10480582 0.883085 1045 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Occult macular dystrophy Rotator cuff syndrome 0.000157 0.5825 0.1541 Hirsutism 0.0002551 237.653 64.984 SOX7 rs180762782 8:10726106:C:T 8 10726106 C T 8:10583616 0.958792 3767 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of uterus and cervix 0.000214 2.2913 0.619 Persons with potential health hazards related to communicable diseases 0.001059 6.105 1.865 MTMR9 rs139630635 8:11315027:G:C 8 11315027 G C 8:11172536 0.92028 800 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polycystic ovarian syndrome 0.000469 3.0339 0.8674 0.0003685 10.469 2.939 BLK rs142352008 8:11543340:C:T 8 11543340 C T 8:11400849 0.984275 408 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic hepatitis, not elsewhere classified 0.000545 5.3915 1.5592 BLK rs55758736 8:11548067:G:A 8 11548067 G A 8:11405576 0.994361 938 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Maturity onset diabetes mellitus in young;Maturity-onset diabetes of the young, type 11;Monogenic diabetes;not specified Myopia 0.000636 1.509 0.4418 Injuries to the hip and thigh 0.0007708 9.026 2.684 BLK rs141865425 8:11555425:G:A 8 11555425 G A 8:11412934 0.993644 1054 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Maturity onset diabetes mellitus in young;Systemic lupus erythematosus;not specified All-cause Heart Failure 2e-04 -0.4331 0.1165 Weight loss 0.003188 31.063 10.533 BLK rs146505280 8:11561347:C:T 8 11561347 C T 8:11418856 0.989487 143 missense_variant dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Lactose intolerance 0.00126 9.009 2.7936 GATA4 rs149872786 8:11757060:G:A 8 11757060 G A 8:11614569 0.96948 558 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected disproportion 0.000679 3.2724 0.963 GATA4 rs3729856 8:11757066:A:G 8 11757066 A G 8:11614575 0.99966 46062 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intestinal malabsorbtion 0.000395 0.3433 0.0969 Seborrhoeic dermatitis 0.0005894 0.396 0.115 GATA4 rs55633527 8:11758378:C:T 8 11758378 C T 8:11615887 0.99592 9357 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrioventricular septal defect 4;Cardiovascular phenotype Recurrent dislocation and subluxation of joint 0.000255 0.527 0.1441 Other benign neoplasms of skin 0.001084 0.942 0.288 CTSB rs117613666 8:11845144:T:G 8 11845144 T G 8:11702653 0.987432 4169 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary_lymphoid and hematopoietic malignant neoplasms 0.000553 0.476 0.1378 Primary_lymphoid and hematopoietic malignant neoplasms 0.0002125 4.551 1.229 DLC1 rs61757614 8:13499351:G:C 8 13499351 G C 8:13356860 0.944806 1378 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy examination and test 0.00111 0.6755 0.2071 Panic disorder 0.0007582 85.262 25.318 TUSC3 rs11545035 8:15623134:A:G 8 15623134 A G 8:15480643 0.999632 2101 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Mental retardation, autosomal recessive 7;not provided;not specified Symptoms and signs involving cognition, perception, emotional state and behaviour 0.000864 -0.2537 0.0761 Perichondritis of external ear 0.001555 58.139 18.374 MSR1 rs41341748 8:16155085:G:A 8 16155085 G A 8:16012594 0.993895 3198 pLoF unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Hereditary cancer-predisposing syndrome;Malignant tumor of prostate;not provided Benign neoplasm: Bronchus and lung (other cancers excluded from controls) 0.00113 2.9964 0.9207 Benign neoplasm of brain and other parts of central nervous system 0.0004364 15.556 4.423 VPS37A rs17502618 8:17274932:A:T 8 17274932 A T 8:17132441 0.935168 2261 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 53, autosomal recessive;not specified Artificial opening status 0.000415 2.1239 0.6016 Melanocytic naevi of eyelid, including canthus 0.001159 81.638 25.128 VPS37A rs17587086 8:17279904:G:A 8 17279904 G A 8:17137413 0.99869 60738 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Olecranon bursitis 0.000487 0.2478 0.071 Malignant neoplasm of lip, oral cavity and pharynx (other cancers excluded from controls) 0.0009049 0.847 0.255 MTUS1 rs61733708 8:17655975:T:C 8 17655975 T C 8:17513484 0.969646 6293 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol use disorder, Swedish definition 0.000808 0.2102 0.0627 Nontoxic diffuse goitre 0.0006528 10.723 3.146 MTUS1 rs209569 8:17754084:T:C 8 17754084 T C 8:17611593 0.993317 7703 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postprocedural disorders of digestive system, not elsewhere classified 0.00012 1.2184 0.3167 Hypermobility syndrome 0.001015 4.803 1.462 PCM1 rs200319059 8:17967132:A:G 8 17967132 A G 8:17824641 0.996108 0.000802966 0 295 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis, primary, with knee surgery 4.78e-06 1.7632 0.3855 PCM1 rs148806955 8:17980704:G:T 8 17980704 G T 8:17838213 0.991024 641 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcoholic liver disease 0.00226 1.8018 0.59 ASAH1 rs17636067 8:18057617:C:T 8 18057617 C T 8:17915126 0.994632 1536 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Farber disease;not provided Other and unspecified mononeuropathies of lower limb 0.00213 2.0152 0.6562 Somatoform disorder 0.0002769 14.172 3.898 ASAH1 rs139585444 8:18059454:T:G 8 18059454 T G 8:17916963 0.994588 178 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of inner ear 0.00055 1.4902 0.4313 ASAH1 rs10103355 8:18061425:A:G 8 18061425 A G 8:17918934 0.997259 0.968431 344578 11212 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pre-eclampsia or eclampsia 1.24e-05 -0.3308 0.0757 Pre-eclampsia or eclampsia 9.705e-05 -0.151 0.039 ASAH1 rs1049874 8:18069818:T:C 8 18069818 T C 8:17927327 0.998594 89245 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tarsal tunnel syndrome 2e-04 -0.5212 0.1402 Oedema, not elsewhere classified 0.0008776 0.081 0.024 ASAH1 rs1071645 8:18071302:C:T 8 18071302 C T 8:17928811 0.998588 89137 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tarsal tunnel syndrome 0.000244 -0.5143 0.1402 Oedema, not elsewhere classified 0.0007368 0.083 0.024 ASAH1 rs3753115 8:18073263:C:T 8 18073263 C T 8:17930772 0.998694 88909 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tarsal tunnel syndrome 0.000286 -0.5081 0.1401 Oedema, not elsewhere classified 0.0005348 0.085 0.025 ASAH1 rs13263632 8:18084695:C:T 8 18084695 C T 8:17942204 0.997028 12923 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria not provided Mental and behavioural disorders due to opioids 0.000921 0.6221 0.1877 Complications of procedures, not elsewhere classified 0.0001376 0.562 0.148 ASAH1 rs147896487 8:18084767:C:G 8 18084767 C G 8:17942276 0.99035 1538 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Rolandic epilepsy Other Chron's disease 0.000925 1.492 0.4504 Pneumoconiosis due to asbestos and other mineral fibres 0.001953 44.99 14.526 NAT1 rs56379106 8:18222237:C:T 8 18222237 C T 8:18079746 0.963063 691 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Additional codes for the location of defect, injury or illness 0.000299 3.9784 1.1001 NAT1 rs4987076 8:18222492:G:A 8 18222492 G A 8:18080001 0.999941 0.0104739 32 3816 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter NAT1*17 ALLELE;not specified Diseases of the musculoskeletal system and connective tissue 3.35e-05 -0.158 0.0381 Social disorders starting during childhood or adolecense 0.0002843 253.234 69.777 NAT2 rs1801280 8:18400344:T:C 8 18400344 T C 8:18257854 0.999962 91160 missense_variant recessive drug response drug response no assertion criteria provided no_Criteria Other obstructive and reflux uropathy 0.000117 0.1555 0.0404 Placenta praevia 8.461e-05 0.231 0.059 NAT2 rs1799930 8:18400593:G:A 8 18400593 G A 8:18258103 0.999997 67032 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Statin medication 0.000125 -0.0434 0.0113 Acute renal failure 0.0001319 0.214 0.056 NAT2 rs1799931 8:18400860:G:A 8 18400860 G A 8:18258370 0.999971 12925 missense_variant recessive drug response drug response no assertion criteria provided no_Criteria Slow acetylator due to N-acetyltransferase enzyme variant Malignant neoplasm of urinary organs 0.000164 0.3569 0.0947 Alcohol abuse counselling and surveillance 9.373e-06 10.552 2.381 PSD3 rs73202143 8:18871818:C:A 8 18871818 C A 8:18729328 0.948906 4132 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autoimmune thyroiditis 0.000659 1.8198 0.5343 Optic neuritis 0.0002456 18.204 4.965 PSD3 rs146066561 8:18871840:G:A 8 18871840 G A 8:18729350 0.983448 218 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholangitis (primary sclerosing, PSC), with reimbursement 202 0.000163 18.2008 4.8278 PSD3 rs201964200 8:18872526:T:A 8 18872526 T A 8:18730036 0.979571 432 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dystonia 0.000164 4.4526 1.1816 CSGALNACT1 rs34799877 8:19505518:A:G 8 19505518 A G 8:19363029 0.980049 6070 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 0.00151 -0.1187 0.0374 Simple and mucoplurulent chronic bronchitis 0.00412 5.428 1.892 LPL rs1801177 8:19948197:G:A 8 19948197 G A 8:19805708 0.939016 922 missense_variant both Benign/Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Motor neuron disease 0.000635 5.3973 1.5799 LPL rs268 8:19956018:A:G 8 19956018 A G 8:19813529 0.9972 8111 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Hyperapobetalipoproteinemia Chronic laryngitis and laryngotracheitis 0.00029 0.4427 0.1221 Convergent concomitant strabismus 0.001247 4.487 1.39 LPL rs76708715 8:19959377:C:T 8 19959377 C T 8:19816888 0.996348 2974 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Universal eryhrodermia, KELA reimbursement 0.000271 3.4633 0.9512 Mental and behavioural disorders due to opioids 5.567e-05 37.322 9.26 LPL rs328 8:19962213:C:G 8 19962213 C G 8:19819724 0.999845 0.0884923 2852 29659 pLoF both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperlipoproteinemia, type I;LIPOPROTEIN LIPASE POLYMORPHISM Statin medication 1.1e-06 -0.0833 0.0171 Benign neoplasm: Bronchus and lung 0.0005406 2.686 0.776 ATP6V1B2 rs116941637 8:20197417:G:A 8 20197417 G A 8:20054928 0.849709 92 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical observation and evaluation for suspected diseases and conditions 0.000118 -1.3133 0.341 LZTS1 rs149140637 8:20254844:A:G 8 20254844 A G 8:20112355 0.902104 363 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of head 0.0013 5.1922 1.6141 GFRA2 rs77601365 8:21693346:G:A 8 21693346 G A 8:21550858 0.992065 1870 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other enthesopathies 0.000397 0.5674 0.1602 Benign neoplasm: Colon, unspecified (other cancers excluded from controls) 0.0006942 8.752 2.58 DOK2 rs2242241 8:21909370:A:C 8 21909370 A C 8:21766881 0.942791 95 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinoschisis and retinal cysts 0.00102 23.1819 7.0589 HR rs7014851 8:22119197:T:C 8 22119197 T C 8:21976710 0.99473 6124 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alopecia universalis;Alopecia universalis congenita Benign neoplasm: Anus and anal canal (other cancers excluded from controls) 0.000178 1.3736 0.3665 Benign neoplasm: Adrenal gland (other cancers excluded from controls) 0.0002169 8.021 2.169 HR rs201739936 8:22120819:C:A 8 22120819 C A 8:21978332 0.963286 1077 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Alopecia universalis;Atrichia with papular lesions Abnormal findings on examination of urine, without diagnosis 0.00105 2.3778 0.7256 6.282e-05 28.689 7.169 HR rs117197822 8:22123705:C:T 8 22123705 C T 8:21981218 0.954191 12094 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alopecia universalis;Atrichia with papular lesions;not specified Antepartum haemorrhage, not elsewhere classified 0.000426 0.4791 0.136 Dementia in other diseases classified elsewhere 0.000221 3.227 0.874 HR rs74596676 8:22125478:T:C 8 22125478 T C 8:21982991 0.98841 31081 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alopecia universalis;Atrichia with papular lesions Other diseases of biliary tract 0.000649 -0.312 0.0915 Lichen simplex chronicus 0.0002771 1.273 0.35 HR rs56140348 8:22125484:A:G 8 22125484 A G 8:21982997 0.989711 39599 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anxious personality disorder 0.000729 0.5199 0.1539 0.000422 0.31 0.088 HR rs73549523 8:22127252:C:T 8 22127252 C T 8:21984765 0.988656 30877 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alopecia universalis;Atrichia with papular lesions Other diseases of biliary tract 0.000952 -0.303 0.0917 Lichen simplex chronicus 0.0002474 1.296 0.354 HR rs12675375 8:22127432:C:T 8 22127432 C T 8:21984945 0.986884 76388 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presence of other devices 0.00033 0.1273 0.0355 Presence of other devices 0.0004484 0.142 0.04 HR rs143170974 8:22127472:G:A 8 22127472 G A 8:21984985 0.982795 3216 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Alopecia universalis;Atrichia with papular lesions Spinal instabilities 0.00232 1.2737 0.4182 Benign neoplasm: Adrenal gland (other cancers excluded from controls) 0.0002578 19.438 5.319 SFTPC rs4715 8:22163524:C:A 8 22163524 C A 8:22021037 0.989631 72843 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified soft tissue disorders 0.000734 0.2124 0.0629 Benign neoplasm: Oesophagus 0.0005016 0.679 0.195 SFTPC rs2070687 8:22163875:C:G 8 22163875 C G 8:22021388 0.978672 0.316551 37018 79279 LC dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coronary atherosclerosis 5.38e-05 0.0608 0.015 Cyst of kidney 0.001925 0.225 0.073 SFTPC rs1124 8:22164004:G:A 8 22164004 G A 8:22021517 0.996452 79998 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified soft tissue disorders 0.000649 0.2039 0.0598 Dermatitis herpetiformis 0.0002027 0.431 0.116 SFTPC rs1126931 8:22164420:C:T 8 22164420 C T 8:22021933 0.971575 0.254595 24220 69315 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 1.4e-07 -0.0692 0.0131 Chrystal arthropathies, rheuma endpoint 0.0002678 0.784 0.215 BMP1 rs145284541 8:22192083:G:A 8 22192083 G A 8:22049596 0.915052 656 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Noninflammatory disorders of female genital tract 0.000104 0.465 0.1198 BMP1 rs117159093 8:22201829:G:A 8 22201829 G A 8:22059342 0.965966 0.000704977 0 259 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of muscles 8.64e-05 4.206 1.0714 BMP1 rs11996036 8:22201850:G:A 8 22201850 G A 8:22059363 0.993087 0.0709985 1920 24164 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteogenesis Imperfecta, Recessive;not specified Other disorders of cornea 7.91e-05 0.3679 0.0932 Oligomenorrhoea 3.309e-05 1.664 0.401 BMP1 rs80019749 8:22207391:T:C 8 22207391 T C 8:22064904 0.971229 0.000704977 0 259 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Von Willebrand disease 5.4e-05 25.9854 6.4361 SLC39A14 rs768887204 8:22404715:AGCTGCT:A 8 22404715 AGCTGCT A 8:22262228 0.99536 64018 inframe_indel both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fistulae involving female genital tract 0.000225 0.5104 0.1384 Ulcer of vagina/vulva 0.0009126 0.644 0.194 SORBS3 rs150705192 8:22566459:C:G 8 22566459 C G 8:22423972 0.929226 0.00157599 4 575 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postpartum haemorrhage 9e-05 1.6451 0.4201 Hypertension, essential 0.000966 2.904 0.88 SORBS3 rs34059820 8:22571127:G:A 8 22571127 G A 8:22428640 0.930688 461 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified/other endometriosis 0.000396 2.5077 0.7079 Intrahepatic Cholestasis of Pregnancy (ICP) 0.005214 19.182 6.866 CCAR2 rs147092133 8:22615709:G:T 8 22615709 G T 8:22473222 0.884828 627 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with coma 0.000733 1.5 0.4442 Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.00159 50.979 16.144 TNFRSF10C rs74480765 8:23114694:G:A 8 23114694 G A 8:22972207 0.977757 0.0052533 10 1920 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Drug-induced hypoglycaemia without coma 3e-05 4.2042 1.0073 Viral pneumonia (unknown virus, not influenza) 0.001247 69.984 21.682 TNFRSF10C rs61736402 8:23114715:C:T 8 23114715 C T 8:22972228 0.929221 4379 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes without complications 0.00012 -0.2836 0.0738 Toxic effects of substances chiefly nonmedicinal as to source 0.002759 6.117 2.043 TNFRSF10A rs61756236 8:23224856:C:G 8 23224856 C G 8:23082369 0.945038 3957 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other nutritional deficiencies 0.000359 0.3226 0.0904 Other/unspecified reactive arthropathies 0.0004211 9.895 2.806 LOXL2 rs138503568 8:23368195:C:A 8 23368195 C A 8:23225708 0.917417 183 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fitting and adjustment of other devices 0.000318 2.4993 0.6942 NKX2-6 rs143039156 8:23702971:G:T 8 23702971 G T 8:23560484 0.962876 0.0499472 952 17398 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conotruncal heart malformations Dystonia 2.52e-05 0.5978 0.1419 4.058e-05 -0.275 0.067 ADAM28 rs140230044 8:24313443:C:A 8 24313443 C A 8:24170956 0.996046 1130 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed conductive and sensorineural hearing loss 0.00146 1.1806 0.3709 Speech disturbances, not elsewhere classified 0.001827 47.31 15.178 NEFM rs59062625 8:24914180:T:G 8 24914180 T G 8:24771693 0.997633 4339 missense_variant unknown not provided not_provided no assertion provided none not provided Other disorders of fluid, electrolyte and acid-base balance 0.000104 0.4865 0.1253 Unspecified diabetes 0.0006227 3.316 0.969 NEFM rs61528354 8:24917278:G:A 8 24917278 G A 8:24774791 0.919061 0.00240345 6 877 missense_variant unknown not provided not_provided no assertion provided none not provided Unspecified lump in breast 1.14e-05 1.6871 0.3844 Recurrent and persistent haematuria 0.0006485 152.153 44.613 NEFM rs59726684 8:24917944:G:C 8 24917944 G C 8:24775457 0.965718 0.021612 168 7772 missense_variant unknown not provided not_provided no assertion provided none not provided Chronic viral hepatitis 9.73e-05 0.8821 0.2263 Dislocation, sprain and strain of joints and ligaments of knee 0.0009525 0.916 0.277 DOCK5 rs61732769 8:25317094:C:T 8 25317094 C T 8:25174610 0.923601 993 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oligomenorrhoea 0.000438 2.8192 0.8017 GNRH1 rs6185 8:25423284:C:G 8 25423284 C G 8:25280800 0.995164 0.27518 27900 73198 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Any gastric operation 3.56e-06 -0.0384 0.0083 0.0001914 -0.037 0.01 ADRA1A rs61757009 8:26864510:A:C 8 26864510 A C 8:26722027 0.980317 0.015583 122 5603 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disorders of skin and subcutaneous tissue 1.1e-05 0.9186 0.2089 9.857e-05 1.796 0.461 PTK2B rs61738530 8:27430997:C:A 8 27430997 C A 8:27288514 0.975828 0.000563437 0 207 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Labour and delivery complicated by fetal stress [distress] 8.41e-05 3.1348 0.7972 PTK2B rs56175011 8:27433522:C:G 8 27433522 C G 8:27291039 0.98514 607 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Effects of foreign body entering through natural orifice 0.000414 1.1765 0.3332 CHRNA2 rs56344740 8:27463009:G:T 8 27463009 G T 8:27320526 0.941583 0.000726752 0 267 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chrondropathies 2.68e-05 3.0973 0.7376 CHRNA2 rs141721605 8:27463209:C:T 8 27463209 C T 8:27320726 0.986541 453 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute mastoiditis 0.00062 11.8062 3.4494 CHRNA2 rs149464248 8:27463343:C:T 8 27463343 C T 8:27320860 0.818979 3180 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hypersensitivity pneumonitis due to organic dust 0.000877 2.1289 0.6398 Abnormal findings in secretions and smears from cervix uteri vagina vulva 0.0002258 3.67 0.995 CHRNA2 rs891398 8:27467305:T:C 8 27467305 T C 8:27324822 0.998884 91562 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture at wrist and hand level 0.00059 -0.0746 0.0217 Fracture at wrist and hand level 0.0006563 -0.058 0.017 CHRNA2 rs2472553 8:27470994:G:A 8 27470994 G A 8:27328511 0.9998 0.163468 9998 50058 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Muscle strain 4.89e-05 0.4753 0.117 Obstructive hydrocephalus 0.0001528 1.214 0.321 EPHX2 rs72475803 8:27500979:G:A 8 27500979 G A 8:27358496 0.976675 3617 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary heart disease 0.000665 0.4643 0.1364 Acquired absence of organs, not elsewhere classified 0.002034 46.126 14.951 EPHX2 rs751141 8:27516348:G:A 8 27516348 G A 8:27373865 0.991505 34668 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Familial hypercholesterolemia Dizziness and giddiness 0.00103 0.0741 0.0226 Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 6.403e-05 1.26 0.315 EPHX2 rs202141435 8:27516403:G:A 8 27516403 G A 8:27373920 0.927864 317 LC dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified psoriasis 0.00142 4.2359 1.3273 ESCO2 rs4732748 8:27776547:C:T 8 27776547 C T 8:27634064 0.997956 29648 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Roberts-SC phocomelia syndrome;not specified Other articular cartilage disorders 0.000402 0.4911 0.1388 Malignant neoplasm of ovary 0.0004897 0.939 0.269 ESCO2 rs143539004 8:27776885:C:T 8 27776885 C T 8:27634402 0.985862 434 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Other peripheral vertigo 0.000195 2.8617 0.7681 Amblyopia ex anopsia 0.001971 46.084 14.892 ESCO2 rs143346057 8:27787902:A:C 8 27787902 A C 8:27645419 0.865008 0.000236807 4 83 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Valvular operations 7.88e-05 1.2512 0.3169 Retinoschisis and retinal cysts 0.0002913 248.413 68.567 ESCO2 rs144288263 8:27787965:G:A 8 27787965 G A 8:27645482 0.994725 2692 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Disorder of external ear, unspecified 0.00034 2.1601 0.6029 Anosmia 0.0001067 17.264 4.455 ESCO2 rs114956994 8:27799565:A:G 8 27799565 A G 8:27657082 0.994329 898 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Roberts-SC phocomelia syndrome;not specified Alzheimer's disease, wide definition 0.000118 1.0132 0.2631 Benign neoplasm: Anus and anal canal 0.0007261 110.662 32.745 EXTL3 rs138851422 8:28717191:C:T 8 28717191 C T 8:28574708 0.990835 1600 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.000815 3.946 1.1788 9.196e-06 65.872 14.852 GSR rs141805635 8:30703138:C:T 8 30703138 C T 8:30560655 0.998409 12505 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degeneration of nervous system due to alcohol 0.000912 0.8161 0.2461 Paraplegia, diplegia of upper limbs 4.593e-05 7.281 1.787 GSR rs8190955 8:30708107:G:A 8 30708107 G A 8:30565624 0.996669 1617 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Suppurative otitis media, unspecified 0.000645 2.5698 0.7532 TEX15 rs146619272 8:30836810:C:T 8 30836810 C T 8:30694326 0.992967 0.00460004 2 1688 LC recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes, wide definition 5.95e-05 0.4274 0.1065 TEX15 rs145972852 8:30836916:G:A 8 30836916 G A 8:30694432 0.977775 4472 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of unspecified body region 0.000105 1.1688 0.3014 Fitting and adjustment of other devices 7.053e-05 3.184 0.801 TEX15 rs145215857 8:30837446:A:C 8 30837446 A C 8:30694962 0.967097 357 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic diseases of tonsils and adenoids 0.000135 0.7229 0.1893 TEX15 rs61738844 8:30843049:C:T 8 30843049 C T 8:30700565 0.9789 6649 missense_variant recessive no interpretation for the single variant not_provided no interpretation for the single variant none Complications associated with artificial fertilization 0.000262 1.6518 0.4525 Trigger finger 0.0005017 3.652 1.05 TEX15 rs76147771 8:30845222:C:T 8 30845222 C T 8:30702738 0.953701 485 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol-induced chronic pancreatitis 0.000299 3.6981 1.0227 TEX15 rs117788795 8:30846604:G:A 8 30846604 G A 8:30704120 0.992412 2473 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of appendix 0.000159 3.8344 1.0152 Cholesteatoma of middle ear 0.000438 15.221 4.329 WRN rs34477820 8:31058542:A:G 8 31058542 A G 8:30916058 0.980293 626 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Werner syndrome;not specified Benign neoplasm of other and unspecified female genital organs 0.002 2.6211 0.8482 Hypertensive diseases 5.453e-05 -1.648 0.408 WRN rs2230009 8:31064419:G:A 8 31064419 G A 8:30921935 0.999667 22600 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Werner syndrome;not specified Disorders of vitreous body and globe 0.000819 -0.133 0.0397 Hernia of abodminal wall, postoperative 0.0004141 0.692 0.196 WRN rs1800390 8:31080997:A:G 8 31080997 A G 8:30938513 0.867538 0.000261304 0 96 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of neck 4.4e-05 28.9974 7.0974 WRN rs1800391 8:31081188:G:A 8 31081188 G A 8:30938704 0.99798 25965 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Werner syndrome;not specified Diseases of arteries, arterioles and capillaries (FINNGEN) 0.000878 0.1356 0.0408 Other specified/unsepecified deforming dorsopathies 0.0001343 1.956 0.512 WRN rs150148567 8:31090529:A:G 8 31090529 A G 8:30948045 0.927368 694 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Werner syndrome Complications of labour and delivery 0.000415 0.515 0.1459 Noise effects on inner ear 0.003484 23.095 7.905 WRN rs185468906 8:31100926:T:G 8 31100926 T G 8:30958442 0.998389 3020 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Werner syndrome Leiomyoma of uterus 0.000164 0.2896 0.0768 Acute tubulo-interstitial nephritis 0.0002383 1.928 0.525 WRN rs201442356 8:31120295:G:A 8 31120295 G A 8:30977811 0.950725 123 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Problems related to medical facilities and other health care 0.000124 7.2214 1.8814 WRN rs1801195 8:31141764:G:T 8 31141764 G T 8:30999280 0.999878 85768 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of muscle and tendon at forearm level 0.000589 0.3696 0.1075 Drug-induced osteoporosis with pathological fracture 0.0008898 0.467 0.141 WRN rs370299361 8:31154667:C:T 8 31154667 C T 8:31012183 0.983382 479 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Single spontaneous delivery 0.000331 0.5139 0.1431 WRN rs142614369 8:31157423:C:A 8 31157423 C A 8:31014939 0.975999 406 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Polyuria 0.000272 1.8538 0.5092 WRN rs1346044 8:31167138:T:C 8 31167138 T C 8:31024654 0.999947 0.292633 31532 75978 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services for specific procedures and health care 6.03e-05 0.0488 0.0122 Hypertrophy of (infrapatellar) fat pad 0.0001842 0.68 0.182 WRN rs11574410 8:31173019:C:T 8 31173019 C T 8:31030535 0.999272 671 LC recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholangitis (primary sclerosing, PSC), with reimbursement 202 0.00216 4.934 1.6083 NRG1 rs35641374 8:32648114:G:C 8 32648114 G C 8:32505633 0.959707 1375 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Biomechanical lesions, not elsewhere classified 0.000657 2.393 0.7024 Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder 0.003015 31.07 10.475 TTI2 rs138108276 8:33503800:G:A 8 33503800 G A 8:33361318 0.986317 2715 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Acute bronchitis 0.000564 0.3879 0.1125 Alzheimer's disease (undefined) 0.0008327 93.472 27.972 TTI2 rs140677919 8:33512477:T:C 8 33512477 T C 8:33369995 0.987067 1358 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of respiratory system and intrathoracic organs 0.000185 1.1198 0.2995 Malignant neoplasm of bladder (other cancers excluded from controls) 0.0003415 193.986 54.162 TTI2 rs78781527 8:33512496:G:A 8 33512496 G A 8:33370014 0.954258 895 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Immunodeficiencies 0.00184 2.2914 0.7354 Hypertrophic cardiomyopathy 0.0004903 147.715 42.374 ADGRA2 rs77369926 8:37835761:G:A 8 37835761 G A 8:37693279 0.928335 675 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic gout 0.000255 2.913 0.7965 ADRB3 rs4994 8:37966280:A:G 8 37966280 A G 8:37823798 0.997106 28830 missense_variant both risk factor risk factor no assertion criteria provided no_Criteria Obesity Degenerative macular diseases 0.000501 0.2439 0.0701 Eosinophilic disease (BM) 4.102e-05 2.889 0.704 STAR rs188044385 8:38146132:C:T 8 38146132 C T 8:38003650 0.989722 2930 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Trochanteric bursitis 0.00228 0.6968 0.2284 Other noninfective gastroenteritis and colitis 0.0003608 6.417 1.799 DDHD2 rs2306899 8:38238144:C:T 8 38238144 C T 8:38095662 0.999848 56804 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Herpesviral keratitis and keratoconjunctivitis 0.000241 0.3118 0.0849 Trochanteric bursitis 0.0001672 0.295 0.078 DDHD2 rs148664622 8:38247714:A:G 8 38247714 A G 8:38105232 0.990706 963 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intestinal infectious diseases 0.00258 -0.3362 0.1116 DDHD2 rs148536791 8:38253711:T:A 8 38253711 T A 8:38111229 0.990133 4452 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 54, autosomal recessive;not specified Benign neoplasm: Vulva 0.00109 1.4552 0.4454 Any mental disorder 0.0001731 0.988 0.263 WHSC1L1 rs185811622 8:38305427:G:A 8 38305427 G A 8:38162945 0.971732 5143 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to tobacco 0.00205 0.7215 0.234 Abscess of lung 5.404e-05 40.737 10.09 FGFR1 rs4647904 8:38414029:G:A 8 38414029 G A 8:38271547 0.97857 13096 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Craniosynostosis;Hypogonadism with anosmia;Kallmann syndrome 2;Nonsyndromic Trigonocephaly;Osteoglophonic dysplasia;Pfeiffer syndrome;Pfeiffer syndrome;not specified Purpura and other haemorrhagic conditions 0.000326 -0.3756 0.1045 Abnormal serum enzyme levels 0.001833 0.869 0.279 ADAM9 rs61753672 8:39011688:G:A 8 39011688 G A 8:38869207 0.914365 182 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma mixed form (mode) 0.00311 5.5436 1.875 ADAM9 rs146980702 8:39013990:G:A 8 39013990 G A 8:38871509 0.985704 317 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acne 0.000437 3.6214 1.0297 ANK1 rs146416859 8:41672844:G:A 8 41672844 G A 8:41530362 0.999754 0.00140995 0 518 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of vulva 5.91e-05 13.583 3.3818 ANK1 rs34664882 8:41686157:G:A 8 41686157 G A 8:41543675 0.988515 5837 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spherocytosis, Dominant;not specified Postmenopausal osteoporosis with pathological fracture 0.000448 0.9884 0.2816 Problems related to medical facilities and other health care 0.0001404 5.045 1.325 ANK1 rs201439151 8:41688538:A:G 8 41688538 A G 8:41546056 0.998841 659 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified bacterial intestinal infections 0.000639 2.5713 0.753 ANK1 rs10093583 8:41690485:T:C 8 41690485 T C 8:41548003 0.999225 0.00553366 18 2015 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spherocytosis, Dominant;not specified Other assisted single delivery 7.02e-05 4.4288 1.114 Benign neoplasm: Adrenal gland (other cancers excluded from controls) 4.163e-05 35.059 8.555 ANK1 rs2304877 8:41708920:C:T 8 41708920 C T 8:41566438 0.99745 0.0393018 490 13949 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spherocytosis, Dominant;not provided;not specified Dizziness and giddiness 8.52e-05 0.1412 0.0359 Nail disorders 7.597e-05 2.573 0.65 ANK1 rs142690258 8:41715770:T:C 8 41715770 T C 8:41573288 0.97942 1395 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Liver 0.0014 3.3816 1.0585 Acute nephritic syndrome 0.0005084 152.48 43.863 ANK1 rs140085544 8:41716970:C:T 8 41716970 C T 8:41574488 0.995771 777 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of lower leg 0.000222 1.2921 0.35 0.0001282 1.892 0.494 ANK1 rs61735313 8:41724513:G:T 8 41724513 G T 8:41582031 0.996684 2799 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spherocytosis, Dominant;not specified Oesophageal obstruction 0.000417 1.698 0.4811 Dissocial personality disorder 0.001041 83.224 25.379 KAT6A rs144417514 8:41933268:G:A 8 41933268 G A 8:41790786 0.96666 753 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative rectosigmoiditis 0.000359 2.1208 0.5943 KAT6A rs113195648 8:41933896:C:T 8 41933896 C T 8:41791414 0.993486 5300 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;not provided Other specified/unspecified bacterial intestinal infections 0.000398 0.8037 0.2269 Superficial injury of head 0.0001143 3.792 0.983 KAT6A rs752259628 8:41937278:ATCT:A 8 41937278 ATCT A 8:41794796 0.994199 9610 inframe_indel dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Phobic anxiety disorders 0.000478 0.3983 0.114 0.0002956 3.726 1.03 KAT6A rs3824276 8:42048577:A:G 8 42048577 A G 8:41906095 0.997294 35869 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of gallbladder, biliary tract and pancreas 0.000941 0.0633 0.0191 0.000341 0.256 0.071 PLAT rs114878147 8:42181966:G:A 8 42181966 G A 8:42039484 0.98632 362 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Any mental disorder 0.000124 0.5732 0.1494 IKBKB rs140485496 8:42320762:C:T 8 42320762 C T 8:42178280 0.989288 6664 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 15 Problems related to lifestyle 0.00012 0.6604 0.1717 Other specified/unspecified dorsopathies 0.000257 7.731 2.115 IKBKB rs143855451 8:42320833:G:T 8 42320833 G T 8:42178351 0.993571 212 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otherand unspecified haemorrhagic conditions 0.000219 16.529 4.4725 IKBKB rs151057347 8:42321909:A:C 8 42321909 A C 8:42179427 0.974587 321 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic rhinitsi, nasopharyngitis and pharyngitis 0.0013 1.3326 0.4143 SLC20A2 rs79577461 8:42437074:C:T 8 42437074 C T 8:42294592 0.964933 0.0224939 178 8086 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic basal ganglia calcification 1 Other disorders of penis 2.45e-06 0.7783 0.1652 Other specified/unspecified inflammatory spondylopathies 0.0006903 5.454 1.607 CHRNA6 rs199915060 8:42765177:C:G 8 42765177 C G 8:42620320 0.99373 3419 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tibial collateral bursitis [Pellegrini-Stieda] 0.000927 2.7104 0.8184 Visual impairment including blindness (binocular or monocular) 0.0009756 10.418 3.16 RNF170 rs144435181 8:42865438:C:T 8 42865438 C T 8:42720581 0.936836 627 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dissociative [conversion] disorders 0.002 2.5938 0.8395 POMK rs202036744 8:43103684:C:T 8 43103684 C T 8:42958827 0.886222 0.000669592 0 246 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other heart diseases 7.47e-05 0.6301 0.1591 HGSNAT rs200505085 8:43170631:A:T 8 43170631 A T 8:43025774 0.86207 1999 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of other sites/unspecified (other cancers excluded from controls) 0.00107 1.1497 0.3514 Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 0.0001161 42.095 10.922 HGSNAT rs148632988 8:43197919:G:C 8 43197919 G C 8:43053062 0.915854 1980 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mucopolysaccharidosis, MPS-III-C;Retinitis pigmentosa 73;Sanfilippo syndrome;not provided;not specified Pneumoconiosis due to asbestos and other mineral fibres 0.000495 3.073 0.8822 Melanocytic naevi of upper limb, including shoulder 0.000426 141.908 40.275 HGSNAT rs112029032 8:43199504:G:A 8 43199504 G A 8:43054647 0.986568 1943 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Mucopolysaccharidosis, MPS-III-C;Retinal dystrophy;Retinitis pigmentosa 73;not provided;not specified Chronic iridocyclitis 0.000172 1.8244 0.4856 Torsion of testis 0.000777 102.006 30.351 SPIDR rs199612363 8:47727284:C:T 8 47727284 C T 8:48639846 0.956816 0.0012548 4 457 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension 1.62e-05 -0.6281 0.1457 PRKDC rs201214138 8:47778614:G:C 8 47778614 G C 8:48691175 0.881961 77 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other disorders involving the immune mechanism, not elsewhere classified 0.00217 15.5638 5.0768 PRKDC rs7830743 8:47798394:A:G 8 47798394 A G 8:48710955 0.99517 0.0393154 614 13830 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Psoriatic and enteropathic arthropathies 1.18e-05 0.4671 0.1066 Disorders of globe 0.0003611 4.198 1.177 PRKDC rs8178225 8:47799296:C:T 8 47799296 C T 8:48711857 0.988884 9683 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immunodeficiency 26 with or without neurologic abnormalities;not specified Agranulocytosis 0.000785 0.4597 0.1369 Dysphagia 4.192e-05 1.979 0.483 PRKDC rs8178216 8:47807283:G:A 8 47807283 G A 8:48719844 0.974585 4359 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immunodeficiency 26 with or without neurologic abnormalities;not specified Other respiratory diseases principally affecting the interstitium 0.000243 -0.5871 0.16 0.0001967 -0.977 0.262 PRKDC rs4278157 8:47826744:G:A 8 47826744 G A 8:48739305 0.995338 0.0531917 1144 18398 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immunodeficiency 26 with or without neurologic abnormalities;not specified Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 9.38e-05 -0.2101 0.0538 Pure hypercholesterolaemia 0.0001704 0.462 0.123 PRKDC rs185741285 8:47826777:C:G 8 47826777 C G 8:48739338 0.957905 320 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hernia 0.00255 -0.622 0.2062 PRKDC rs374403400 8:47849230:G:A 8 47849230 G A 8:48761791 0.983061 558 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immunodeficiency 26 with or without neurologic abnormalities;not specified Unspecified acute lower respiratory infection 0.000711 1.7735 0.5239 Other diseases of upper respiratory tract 0 2.566 0 PRKDC rs79703138 8:47858853:TCTC:T 8 47858853 TCTC T 8:48771414 0.972429 17324 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 26 with or without neurologic abnormalities Disorders of lens 0.000607 0.0967 0.0282 Other congenital malformations 8.404e-06 1.814 0.407 PRKDC rs199908344 8:47858869:C:T 8 47858869 C T 8:48771430 0.853297 194 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of lower limb, including hip 0.00103 9.6645 2.9453 PRKDC rs202110076 8:47879606:A:T 8 47879606 A T 8:48792167 0.90906 155 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Somnolence, stupor and coma 0.000206 9.7593 2.6292 PRKDC rs199731143 8:47887684:C:G 8 47887684 C G 8:48800245 0.916022 88 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Complications of genitourinary prosthetic devices, implants and grafts 0.000106 20.5338 5.2975 PRKDC rs8178046 8:47929148:G:A 8 47929148 G A 8:48841708 0.970277 2116 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immunodeficiency 26 with or without neurologic abnormalities;not specified Seropositive rheumatoid arthritis, strict definition 0.00056 1.3356 0.3871 Subacute thyroiditis 0.0005948 118.967 34.644 PRKDC rs8178017 8:47939665:C:T 8 47939665 C T 8:48852225 0.993464 10547 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immunodeficiency 26 with or without neurologic abnormalities;not specified Other assisted single delivery 0.000385 1.3997 0.3943 Symptoms and signs involving the nervous and musculoskeletal systems 0.0004256 0.835 0.237 MCM4 rs34206069 8:47962392:A:G 8 47962392 A G 8:48874952 0.969191 121 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Open wound of head 0.000849 1.9606 0.5877 MCM4 rs142732823 8:47966315:C:T 8 47966315 C T 8:48878875 0.992945 4290 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Natural killer cell and glucocorticoid deficiency with DNA repair defect Other disorders of prostate 0.00133 1.0777 0.3358 Postprocedural disorders of nervous system 0.0001515 8.668 2.288 MCM4 rs762679 8:47972876:T:A 8 47972876 T A 8:48885436 0.99165 51522 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonorganic sleeping disorders 0.00109 0.1538 0.0471 Wegener granulomatosis 0.0001466 -0.323 0.085 PXDNL rs2977020 8:51408683:T:C 8 51408683 T C 8:52321243 0.996997 49063 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kela-code for behavioural disturbances in mental retardation 0.000522 0.6272 0.1808 Kela-code for behavioural disturbances in mental retardation 0.0007556 0.346 0.103 PXDNL rs141730527 8:51453597:G:A 8 51453597 G A 8:52366157 0.994423 0.00220748 4 807 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conjunctivitis 4.45e-05 0.642 0.1572 Other diseases of stomach and duodenum 0.00158 54.215 17.159 ST18 rs117471862 8:52118363:G:T 8 52118363 G T 8:53030923 0.954954 3378 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lipoprotein metabolism and other lipidaemias 0.00015 -0.3038 0.0801 Symptoms and signs involving speech and voice 0.0004591 3.652 1.042 RB1CC1 rs34701924 8:52645747:A:T 8 52645747 A T 8:53558307 0.994377 2109 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Normal-pressure hydrocephalus 0.000516 2.77 0.7977 Dislocation, sprain and strain of joints and ligaments at ankle and foot level 0.0003752 6.004 1.688 SOX17 rs200011294 8:54459229:C:T 8 54459229 C T 8:55371789 0.964443 1136 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of hip and thigh 0.000239 3.5482 0.9658 0.000117 -1.349 0.35 SOX17 rs267607083 8:54459525:T:A 8 54459525 T A 8:55372085 0.893988 63 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Iron deficiency anaemia secondary to blood loss (chronic) 0.000152 7.0061 1.8496 RP1 rs746359399 8:54621087:T:C 8 54621087 T C 8:55533647 0.941276 232 missense_variant both Uncertain significance VUS no assertion criteria provided no_Criteria Other viral diseases 0.00216 1.8062 0.5889 RP1 rs77775126 8:54625000:C:T 8 54625000 C T 8:55537560 0.997233 1975 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant;Retinitis pigmentosa 1;not specified Other papulosquamous disorders 0.00242 3.6989 1.2195 Sequelae of injuries of lower limb 0.0001724 23.06 6.139 RP1 rs444772 8:54626497:G:A 8 54626497 G A 8:55539057 0.997146 62732 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified trigeminal disorders 0.000278 0.4671 0.1285 Symptoms and signs involving the nervous and musculoskeletal systems 0.0001386 -0.112 0.029 RP1 rs2293869 8:54626835:A:T 8 54626835 A T 8:55539395 0.999876 0.410555 62014 88819 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diaphragmatic hernia 8.86e-05 0.0894 0.0228 Pustulosis palmaris et plantaris 5.332e-05 0.275 0.068 RP1 rs148296108 8:54626983:A:T 8 54626983 A T 8:55539543 0.977839 237 missense_variant both Uncertain significance VUS no assertion criteria provided no_Criteria Other systemic involvement of connective tissue 0.00039 1.8941 0.5341 RP1 rs151316028 8:54627708:C:T 8 54627708 C T 8:55540268 0.997764 1292 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Other/unspecified site 0.000709 3.9698 1.1724 RP1 rs35084330 8:54628666:G:A 8 54628666 G A 8:55541226 0.9968 4178 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant Syncope and collapse 0.00079 -0.2915 0.0868 0.0003921 6.434 1.815 RP1 rs446227 8:54628890:G:A 8 54628890 G A 8:55541450 0.999971 60333 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nasal polyp 0.000855 0.119 0.0357 Symptoms and signs involving the nervous and musculoskeletal systems 0.0005552 -0.107 0.031 RP1 rs414352 8:54628953:T:C 8 54628953 T C 8:55541513 0.997458 62728 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified trigeminal disorders 0.00027 0.4682 0.1285 Symptoms and signs involving the nervous and musculoskeletal systems 0.0001439 -0.112 0.029 RP1 rs113793810 8:54629583:C:T 8 54629583 C T 8:55542143 0.963322 497 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant Failed induction of labour 0.000129 3.7802 0.9876 Examination and observation for other reasons 0.004672 4.092 1.447 RP1 rs140137224 8:54629687:T:G 8 54629687 T G 8:55542247 0.974992 202 missense_variant both Uncertain significance VUS no assertion criteria provided no_Criteria Other systemic involvement of connective tissue (FG) 0.000294 2.1297 0.5882 RP1 rs184596875 8:54629946:A:C 8 54629946 A C 8:55542506 0.987975 2123 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant Malignant neoplasm of oesophagus (other cancers excluded from controls) 0.00081 2.7758 0.8288 Lesion of plantar nerve 0.000269 18.935 5.197 RP1 rs61739567 8:54629980:G:A 8 54629980 G A 8:55542540 0.998111 88716 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diaphragmatic hernia 0.000143 0.0868 0.0228 Pustulosis palmaris et plantaris 3.313e-05 0.284 0.068 TGS1 rs61753685 8:55785806:G:A 8 55785806 G A 8:56698365 0.933714 1364 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pure hypercholesterolaemia 0.00149 0.475 0.1495 Atopic dermatitis 0.0008401 9.462 2.833 TGS1 rs61740025 8:55786346:G:A 8 55786346 G A 8:56698905 0.959625 949 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of ankle and foot 0.00151 1.4606 0.4605 Glomerular disorders in diseases classified elsewhere 0.0003553 11.957 3.348 TGS1 rs3213971 8:55786376:A:G 8 55786376 A G 8:56698935 0.979142 10204 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of nerves at wrist and hand level 0.00118 0.6873 0.2118 Malignant neoplasm of other connective and soft tissue (other cancers excluded from controls) 0.0006359 8.304 2.431 IMPAD1 rs76235334 8:56963909:C:T 8 56963909 C T 8:57876468 0.997366 0.00713959 34 2589 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chondrodysplasia Hernia of abodminal wall, postoperative 8.78e-05 0.8432 0.215 Atypical mycobacterium lung infection 0.00161 57.381 18.193 IMPAD1 rs112433249 8:56964017:T:C 8 56964017 T C 8:57876576 0.997303 2329 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chondrodysplasia Ulcerative proctitis 0.000194 1.4709 0.3947 Gluteal tendinitis 0.0006216 122.105 35.682 CYP7A1 rs142708991 8:58492376:G:C 8 58492376 G C 8:59404935 0.993989 1585 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Carcinoma in situ of breast, intraductal (other cancers excluded from controls) 0.000261 1.8148 0.4971 ILD Co-morbidites, CVD and metabolic diseases 3.993e-05 1.346 0.328 CYP7A1 rs147162838 8:58500061:G:A 8 58500061 G A 8:59412620 0.976797 379 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other erythematous conditions 0.00223 4.767 1.5593 CHD7 rs41272435 8:60741739:T:A 8 60741739 T A 8:61654298 0.993124 3730 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter CHARGE association;History of neurodevelopmental disorder;Hypogonadism with anosmia;not provided;not specified Rotator cuff syndrome 0.000528 0.269 0.0776 Non-allergic asthma 0.001525 3.94 1.243 CHD7 rs41305525 8:60742450:A:G 8 60742450 A G 8:61655009 0.994733 864 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter CHARGE association;History of neurodevelopmental disorder;Hypogonadism with anosmia;not provided;not specified Injury of nerves at lower leg level 0.000438 8.0502 2.2896 Hyperplasia of prostate 2.898e-05 1.946 0.465 CHD7 rs200536932 8:60781292:C:T 8 60781292 C T 8:61693851 0.969906 0.00153244 2 561 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arthrosis 6.83e-05 0.9272 0.2328 CHD7 rs377139749 8:60781383:G:GAAAGCA 8 60781383 G GAAAGCA 8:61693942 0.968615 1513 inframe_indel dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter CHARGE association;History of neurodevelopmental disorder;Hypogonadism with anosmia;not provided;not specified Adrenocortical insufficiency 0.000345 2.9121 0.8137 Juvenile arthritis (FINNGEN) 1.944e-05 54.546 12.771 CHD7 rs201423234 8:60852201:G:A 8 60852201 G A 8:61764760 0.832951 228 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bronchiectasis 0.000568 5.3027 1.5386 CHD7 rs192129249 8:60856859:A:C 8 60856859 A C 8:61769418 0.910229 223 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pulmonary oedema 0.000294 14.772 4.0801 CHD7 rs184814820 8:60865889:C:T 8 60865889 C T 8:61778448 0.979981 3436 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter CHARGE association;History of neurodevelopmental disorder;Hypogonadism with anosmia;not provided;not specified Spondyloarthritis 0.00268 -0.4848 0.1615 Toxic effect of other and unspecified substances 0.0008666 94.933 28.503 ASPH rs151278995 8:61518052:T:C 8 61518052 T C 8:62430611 0.993865 2141 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of adrenal gland 0.00326 1.5384 0.5229 0.0004297 7.599 2.158 ASPH rs141197241 8:61637992:G:A 8 61637992 G A 8:62550551 0.878495 1056 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personal history of malignant neoplasm 0.000115 5.1252 1.3289 BHLHE22 rs191620115 8:64581450:T:TAGCGGC 8 64581450 T TAGCGGC 8:65494007 0.983297 42763 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 2 0.000358 0.563 0.1577 0.0003628 0.424 0.119 CYP7B1 rs59035258 8:64615112:C:T 8 64615112 C T 8:65527669 0.985619 8197 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Bile Acid Synthesis Defect;Spastic Paraplegia, Recessive;Spastic paraplegia;not specified Certain disorders involving the immune mechanism 0.000466 0.3581 0.1023 Lichen simplex chronicus and prurigo 0.002727 3.38 1.128 CYP7B1 rs181854355 8:64798494:C:A 8 64798494 C A 8:65711051 0.984259 2242 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Benign neoplasm: Ascending colon (other cancers excluded from controls) 0.00151 0.9886 0.3115 Toxic effect of carbon monoxide 0.0005578 129.936 37.648 CYP7B1 rs537303950 8:64798529:G:A 8 64798529 G A 8:65711086 0.914588 249 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of skin appendages 0.000377 1.4194 0.3992 RRS1 rs144551617 8:66429930:A:T 8 66429930 A T 8:67342165 0.965152 962 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Ascending colon 0.000951 1.7322 0.5242 Demyelenating diseases of the central nervous system 0.0002471 17.555 4.79 CSPP1 rs141389465 8:67103078:A:G 8 67103078 A G 8:68015313 0.998766 5196 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign lipomatous neoplasm of other sites/unspecified (other cancers excluded from controls) 0.000138 0.7226 0.1896 Persons encountering health services in other circumstances 0.000882 2.156 0.648 CSPP1 rs146431326 8:67116017:C:G 8 67116017 C G 8:68028252 0.979868 1112 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm of colon, rectum, anus and anal canal 0.000585 0.5586 0.1625 !!!Vapaa-ajan tapaturmat 0.001214 64.452 19.919 CSPP1 rs16933182 8:67161902:G:A 8 67161902 G A 8:68074137 0.998484 33211 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain in joint 0.00054 0.0886 0.0256 Alzheimer's disease (Atypical or mixed) 5.332e-05 0.856 0.212 CSPP1 rs1808140 8:67190742:T:C 8 67190742 T C 8:68102977 0.999076 0.0753291 2456 25219 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome 21;not specified Other demyelinating diseases of the central nervous system 5.18e-05 0.6173 0.1525 Alzheimer's disease (Atypical or mixed) 0.000609 0.903 0.264 ARFGEF1 rs61753695 8:67291967:C:A 8 67291967 C A 8:68204202 0.923781 238 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Allergic conjunctivitis 0.00131 1.1433 0.3557 CPA6 rs72654981 8:67422547:G:A 8 67422547 G A 8:68334782 0.922627 162 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified acne 0.00107 20.9342 6.3985 CPA6 rs17343819 8:67484680:T:C 8 67484680 T C 8:68396915 0.997565 28386 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Temporal epilepsy, familial;not provided;not specified Acute mastoiditis 0.000417 -0.9145 0.2591 Vascular dementia (multiple infarctations) 0.0006901 1.984 0.585 CPA6 rs17853192 8:67509533:G:C 8 67509533 G C 8:68421768 0.994906 0.0795181 2418 26796 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Temporal epilepsy, familial;not specified Nerve, nerve root and plexus disorders 7.2e-05 -0.0863 0.0217 Short stature, not elsewhere classified 4.652e-05 2.144 0.526 CPA6 rs10957393 8:67624235:A:G 8 67624235 A G 8:68536470 0.995722 61858 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ventral hernia 0.000505 0.1163 0.0334 Lesion of plantar nerve 0.000196 0.322 0.086 PREX2 rs61753700 8:68108323:C:T 8 68108323 C T 8:69020558 0.865638 301 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinal enthesopathy 0.000628 5.245 1.5341 PREX2 rs61753703 8:68146301:C:T 8 68146301 C T 8:69058536 0.940834 1134 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified systemic involvement of connective tissue 0.000829 2.0558 0.615 0.0002402 -1.83 0.498 SULF1 rs118056333 8:69603241:A:G 8 69603241 A G 8:70515476 0.983839 2929 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other congenital malformations of skin 0.000233 1.5005 0.4077 Other inflammation of eyelid 0.0001813 21.094 5.634 SULF1 rs142971465 8:69621140:C:G 8 69621140 C G 8:70533375 0.957297 832 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified trigeminal disorders 0.000809 4.8859 1.4586 Other specified/unspecified necrotizing vasculopathies 0.0002471 276.469 75.43 SULF1 rs117639561 8:69638747:G:A 8 69638747 G A 8:70550982 0.915791 0.000443673 0 163 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Small cell lung cancer 5.13e-05 19.319 4.7704 SLCO5A1 rs34148850 8:69832346:C:T 8 69832346 C T 8:70744581 0.951284 3725 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effects of substances chiefly nonmedicinal as to source 0.000129 0.7624 0.1991 Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk 0.0005625 10.51 3.047 EYA1 rs146356299 8:71321753:C:T 8 71321753 C T 8:72233988 0.987765 260 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presence of other functional implants 0.000584 1.233 0.3585 TRPA1 rs61753709 8:72050805:C:T 8 72050805 C T 8:72963040 0.986087 0.00198156 0 728 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes with neurological complications 8.59e-05 2.7677 0.7047 TRPA1 rs35703015 8:72061674:C:T 8 72061674 C T 8:72973909 0.991297 2950 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative ileocolitis 0.000758 1.2673 0.3763 Colon adenocarcinoma 0.0004949 13.997 4.018 TRPA1 rs61753713 8:72069140:G:T 8 72069140 G T 8:72981375 0.994487 0.00201966 2 740 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in circumstances related to reproduction 3.61e-05 0.4799 0.1162 TMEM70 rs8075 8:73976381:G:C 8 73976381 G C 8:74888616 0.996687 31127 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type;not provided;not specified Tinnitus 0.00329 -0.1404 0.0478 Other specified congenital malformation syndromes affecting multiple systems 0.0002795 1.996 0.549 TMEM70 rs61732273 8:73981184:C:G 8 73981184 C G 8:74893419 0.998815 15440 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type;Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2;not provided;not specified Benign neoplasm: Parotid gland (other cancers excluded from controls) 0.000299 0.4725 0.1307 Migraine 0.0004282 0.517 0.147 TMEM70 rs77410280 8:73981418:G:A 8 73981418 G A 8:74893653 0.998289 6653 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2;not provided;not specified Hypertension, essential 0.000119 0.1532 0.0398 Anorexia (incl.atypical) 0.0003389 6.909 1.928 TMEM70 rs1053079 8:73981586:A:G 8 73981586 A G 8:74893821 0.997749 43333 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tinnitus 0.000298 -0.1453 0.0402 Non-small cell lung cancer, squamous 0.0001358 0.934 0.245 TMEM70 rs1053077 8:73981615:C:G 8 73981615 C G 8:74893850 0.997136 43272 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tinnitus 0.00028 -0.146 0.0402 Non-small cell lung cancer, squamous 0.000141 0.93 0.244 ZFHX4 rs147642461 8:76704578:G:A 8 76704578 G A 8:77616813 0.956345 142 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of meninges (other cancers excluded from controls) 0.000308 8.531 2.3642 ZFHX4 rs139920573 8:76852248:A:G 8 76852248 A G 8:77764484 0.931241 219 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and/or unspecified nontoxic goitre 0.00154 3.8552 1.2173 ZFHX4 rs61729528 8:76854327:C:T 8 76854327 C T 8:77766563 0.962414 1524 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other headache syndromes 0.000484 0.5177 0.1484 Wegener granulomatosis 0.0006404 145.558 42.637 PEX2 rs142645936 8:76983431:A:G 8 76983431 A G 8:77895667 0.933052 869 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of male genital organs 0.000279 -0.496 0.1365 PEX2 rs10087163 8:76983629:A:G 8 76983629 A G 8:77895865 0.99855 14200 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myeloid leukaemia 0.00119 -0.8422 0.2599 Myeloid leukaemia 0.001181 -0.436 0.134 PEX2 rs149287302 8:76984088:G:C 8 76984088 G C 8:77896324 0.989441 5383 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Peroxisome biogenesis disorder 5B;Peroxisome biogenesis disorder 5a (zellweger);Zellweger syndrome;not specified Benign neoplasm: Vagina (other cancers excluded from controls) 0.000743 1.7596 0.5216 Injury of muscle and tendon at wrist and hand level 0.0004652 3.781 1.08 PMP2 rs113226355 8:81444914:A:G 8 81444914 A G 8:82357149 0.993532 0.00648633 20 2363 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hard cardiovascular diseases 7.88e-06 0.3475 0.0778 Peroneal tendinitis 0.0008386 99.912 29.916 IMPA1 rs61755740 8:81680732:G:A 8 81680732 G A 8:82592967 0.99098 676 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol related diseases, tilastokeskus definition, death only 0.000988 2.6642 0.8088 Benign neoplasm: Parotid gland 0.002463 36.181 11.949 CA1 rs61734485 8:85332503:G:A 8 85332503 G A 8:86244732 0.996737 2668 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seborrhoeic dermatitis 0.000667 0.9766 0.287 Inflammatory disease of uterus 0.0004966 12.865 3.694 CNGB3 rs142846289 8:86575814:G:C 8 86575814 G C 8:87588042 0.995167 2698 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Achromatopsia;Stargardt Disease, Recessive;not provided;not specified Communicating hydrocephalus 0.000484 2.717 0.7786 Psoriasis 0.001208 8.988 2.777 CNGB3 rs3735972 8:86575970:T:C 8 86575970 T C 8:87588198 0.998082 36867 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other puerperal infections 0.00164 -0.2916 0.0926 Other CVD (FINNGEN) 0.0004791 0.443 0.127 CNGB3 rs554368357 8:86643780:AG:A 8 86643780 AG A 8:87656008 0.997895 1004 pLoF recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Other symptoms and signs involving the nervous and musculoskeletal systems 0.00112 0.665 0.2041 Visual disturbances 0.0001656 17.28 4.588 CNGB3 rs13265557 8:86647872:T:C 8 86647872 T C 8:87660100 0.999784 27961 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Achromatopsia;Stargardt Disease, Recessive;not specified Other Chron's disease 0.000353 0.3466 0.097 Osteonecrosis 0.000562 1.183 0.343 CNGB3 rs144637286 8:86647878:C:T 8 86647878 C T 8:87660106 0.992581 536 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Achromatopsia;Stargardt Disease, Recessive;not provided Deficiency of other B group vitamins 0.000328 6.0974 1.6975 Juvenile rheuma 0.001234 70.2 21.728 CNGB3 rs4961206 8:86654023:T:G 8 86654023 T G 8:87666251 0.997581 82711 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other Chron's disease 0.000311 -0.2019 0.056 Malignant neoplasm of small intestine (other cancers excluded from controls) 0.001067 0.231 0.07 CNGB3 rs6471482 8:86667075:A:C 8 86667075 A C 8:87679303 0.999926 42849 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retention of urine 0.000143 -0.1345 0.0354 Retention of urine 0.0001284 -0.076 0.02 CNGB3 rs35807406 8:86743548:T:C 8 86743548 T C 8:87755776 0.989452 8843 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Achromatopsia;Stargardt Disease, Recessive;not provided;not specified Other sleepdisorders 0.000954 0.4366 0.1322 Crushing injury of wrist and hand 2.079e-05 17.687 4.156 NBN rs142334798 8:89953369:A:T 8 89953369 A T 8:90965597 0.991755 496 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pneumonia due to Streptococcus pneumoniae 0.00106 3.6096 1.1029 NBN rs104895032 8:89955418:A:G 8 89955418 A G 8:90967646 0.974662 163 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disturbance of activity and attention 0.000114 11.0279 2.8576 NBN rs34767364 8:89971232:G:A 8 89971232 G A 8:90983460 0.99119 741 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Tinnitus 0.00209 0.9972 0.324 NBN rs1805794 8:89978251:C:G 8 89978251 C G 8:90990479 0.999454 84349 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Follow-up examination after treatment for conditions other than malignant neoplasms 0.000832 -0.055 0.0165 Irritable bowel syndrome 0.0003515 0.089 0.025 NBN rs61754966 8:89978293:T:C 8 89978293 T C 8:90990521 0.995395 693 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Acute lymphoid leukemia;Aplastic anemia;Hereditary cancer-predisposing syndrome;Leukemia, acute lymphoblastic, susceptibility to;Microcephaly, normal intelligence and immunodeficiency;not provided;not specified Dislocation, sprain and strain of joints and ligaments at neck level 0.000484 1.5699 0.4499 Alzheimer's disease (Late onset) 0.003652 3.439 1.183 NBN rs61753720 8:89981412:C:T 8 89981412 C T 8:90993640 0.919502 223 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specified/unspecified necrotizing vasculopathies 0.000194 17.1117 4.5918 SLC26A7 rs113085952 8:91343371:C:T 8 91343371 C T 8:92355599 0.991 5353 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine without aura 0.00018 -0.4658 0.1244 Inguinal hernia, bilateral 1.193e-05 9.173 2.095 SLC26A7 rs145779342 8:91362401:G:A 8 91362401 G A 8:92374629 0.982743 2283 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (subcortical) 0.000448 2.7492 0.7832 Corneal scars and opacities 0.001769 51.952 16.617 TMEM67 rs73324992 8:93759937:C:T 8 93759937 C T 8:94772165 0.99728 10626 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Brachial plexus disorders 0.000214 0.5067 0.1369 Erythema intertrigo 0.0002522 7.871 2.15 TMEM67 rs35793208 8:93780659:G:A 8 93780659 G A 8:94792887 0.9972 10629 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Meckel-Gruber syndrome;not specified Dry age-related macular degeneration (includes geographic atrophy) 0.000306 0.3727 0.1032 Combined immunodeficiencies 0.000106 10.537 2.718 TMEM67 rs35765535 8:93786243:C:G 8 93786243 C G 8:94798471 0.98901 977 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Corneal scars and opacities 0.000429 4.3571 1.2373 TMEM67 rs145236803 8:93787857:C:T 8 93787857 C T 8:94800085 0.999533 0.00177469 4 648 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Joubert syndrome;Meckel-Gruber syndrome Toxic effect of carbon monoxide 6.12e-06 10.6285 2.3503 Benign neoplasm: Skin of upper limb, including shoulder 0.0002938 244.361 67.49 TMEM67 rs3134031 8:93795937:A:G 8 93795937 A G 8:94808165 0.996266 0.583944 125238 89296 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Valvular operations 6.73e-05 0.0418 0.0105 Prolapse and hernia of ovary and fallopian tube 0.0002241 0.16 0.043 TMEM67 rs116445698 8:93799678:C:T 8 93799678 C T 8:94811906 0.988245 853 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Non-ischemic cardiomyopathy 0.00072 -0.5926 0.1752 Other other unspecified disorders of the circulatory system 0.0005104 136.486 39.274 RAD54B rs116312454 8:94372264:T:C 8 94372264 T C 8:95384492 0.986552 0.00162226 0 596 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Short bones of upper limb 8.03e-05 8.4783 2.15 INTS8 rs148690736 8:94849511:G:A 8 94849511 G A 8:95861739 0.956089 1409 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cystic kidney disease 0.000514 2.2426 0.6456 Hypertrophy of (infrapatellar) fat pad 0.00116 74.481 22.927 INTS8 rs150502842 8:94866159:A:C 8 94866159 A C 8:95878387 0.974465 612 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic lower respiratory diseases 0.00031 -0.4794 0.1329 NDUFAF6 rs201223057 8:95025091:G:C 8 95025091 G C 8:96037319 0.924962 2350 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Acne 0.000418 1.1263 0.3192 Hypertension 0.0002251 1.676 0.454 NDUFAF6 rs61743028 8:95052195:G:A 8 95052195 G A 8:96064423 0.969791 190 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, strict definition 0.00287 3.4628 1.1615 C8orf37 rs199731969 8:95260507:T:C 8 95260507 T C 8:96272735 0.990932 0.00392501 8 1434 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cone-rod dystrophy 16 Pure hypercholesterolaemia 7.12e-05 0.6106 0.1537 Prepatellar bursitis 0.0008284 97.562 29.183 C8orf37 rs36096184 8:95269135:G:C 8 95269135 G C 8:96281363 0.999066 18673 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;Retinitis Pigmentosa, Recessive;not specified Other inflammatory liver diseases 0.000621 -0.4101 0.1198 Family history of certain disabilities and chronic diseases leading to disablement 0.0005923 2.065 0.601 UQCRB rs36123415 8:96231406:G:A 8 96231406 G A 8:97243634 0.985928 9582 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine without aura 0.000713 0.3146 0.0929 Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.0002873 8.562 2.361 UQCRB rs77407648 8:96231561:G:C 8 96231561 G C 8:97243789 0.984309 10506 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contusion of toe(s) without damage to nail 0.00118 1.0584 0.3264 Malignant neoplasm of other connective and soft tissue 0.0003622 6.953 1.95 PTDSS1 rs149279242 8:96273333:G:A 8 96273333 G A 8:97285561 0.980414 564 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes with coma 0.000497 2.1617 0.6207 TSPYL5 rs149847102 8:97277438:G:A 8 97277438 G A 8:98289666 0.992729 3720 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal involuntary movements 0.00017 0.7642 0.2033 Inflammatory disorders of male genital organs, not elsewhere classified 0.0003298 17.067 4.753 MTDH rs140652237 8:97644666:G:A 8 97644666 G A 8:98656894 0.982392 786 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitamin B12 deficiency anaemia 0.000522 1.5466 0.4458 Childhood asthma (age<16) (more controls excluded) 0.0008931 71.982 21.667 LAPTM4B rs114187680 8:97775937:C:CGGCGGGCTCCAGGCGA 8 97775937 C CGGCGGGCTCCAGGCGA 8:98788165 0.987865 37082 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Labour and delivery complicated by umbilical cord complications 0.000841 0.3837 0.1149 Chronic sinusitis 0.0003882 0.206 0.058 POP1 rs148946525 8:98129978:G:A 8 98129978 G A 8:99142206 0.989116 0.00391412 10 1428 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic lower respiratory diseases 5.25e-05 0.3388 0.0838 Certain zoonotic bacterial diseases 0.0009841 83.579 25.365 POP1 rs2306131 8:98140094:A:C 8 98140094 A C 8:99152322 0.967722 1524 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorder of thyroid, unspecified 0.0033 3.3296 1.1333 Other disorders of thyroid 0.0005008 155.846 44.779 VPS13B rs201723380 8:99096385:C:T 8 99096385 C T 8:100108613 0.982795 589 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cohen syndrome;History of neurodevelopmental disorder;not specified Glomerular diseases 0.000885 1.1698 0.3519 Cough 0.0003246 13.326 3.707 VPS13B rs1490266167 8:99121462:GCTGTTTATATCTCTAT:G 8 99121462 GCTGTTTATATCTCTAT G 8:100133690 0.968621 4065 LC recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on examination of other body fluids, substances and tissues, without diagnosis 0.000953 0.2742 0.083 Other pulmonary heart/vessel disease 0.0003931 15.589 4.398 VPS13B rs7460625 8:99121478:T:G 8 99121478 T G 8:100133706 0.997595 60736 LC recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Cerebral meninges (other cancers excluded from controls) 0.000216 0.2248 0.0608 Benign neoplasm of other and unspecified female genital organs (other cancers excluded from controls) 0.0004625 -0.158 0.045 VPS13B rs143024324 8:99134673:G:T 8 99134673 G T 8:100146901 0.967645 520 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Foreign body in ear 0.000813 6.6325 1.9809 VPS13B rs140601319 8:99143090:G:A 8 99143090 G A 8:100155318 0.854303 125 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter General symptoms and signs 0.00074 0.8742 0.2591 VPS13B rs61753721 8:99193027:G:A 8 99193027 G A 8:100205255 0.993744 1895 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cohen syndrome;History of neurodevelopmental disorder;not provided;not specified Non-small cell lung cancer, squamous (other cancers excluded from controls) 0.000355 2.5881 0.7247 Occlusion and stenosis of arteries, not leading to stroke 0.001368 64.531 20.157 VPS13B rs61753722 8:99431657:C:T 8 99431657 C T 8:100443885 0.997079 5569 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cohen syndrome;History of neurodevelopmental disorder;not provided;not specified Contusion of toe(s) without damage to nail 0.000349 1.7265 0.4828 Retinal vascular disorders 0.0006663 5.416 1.592 VPS13B rs1394331189 8:99442535:CCT:C 8 99442535 CCT C 8:100454763 0.901449 804 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Problems related to negative life events in childhood 0.00146 4.0844 1.2837 VPS13B rs61759485 8:99442576:A:G 8 99442576 A G 8:100454804 0.975854 1658 LC recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cohen syndrome;History of neurodevelopmental disorder;not provided;not specified Type 1 diabetes with peripheral circulatory complications 0.000773 2.3459 0.6977 0.001062 -1.414 0.432 VPS13B rs202015701 8:99442626:C:G 8 99442626 C G 8:100454854 0.990231 691 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cohen syndrome Other spirochaetal diseases 0.000199 2.1704 0.5835 Varus deformity, not elsewhere classified 0.0003633 308.943 86.651 VPS13B rs117148013 8:99642196:C:T 8 99642196 C T 8:100654424 0.997134 428 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified mononeuropathies of lower limb 0.00051 5.6156 1.6159 VPS13B rs139640224 8:99642495:A:G 8 99642495 A G 8:100654723 0.998324 696 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cohen syndrome;History of neurodevelopmental disorder;not specified Other localized connective tissue disorders 0.000102 8.0916 2.0819 Cystitis 0.008576 13.38 5.09 VPS13B rs142248228 8:99699894:A:G 8 99699894 A G 8:100712122 0.997127 427 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified mononeuropathies of lower limb 0.000502 5.6406 1.621 VPS13B rs7833870 8:99778928:T:C 8 99778928 T C 8:100791156 0.999927 14420 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cohen syndrome;History of neurodevelopmental disorder;not specified Asthma, unspecified (mode) 0.000566 0.1551 0.045 Burns and corrosions of external body surface, specified by site 0.0005912 1.476 0.43 VPS13B rs28940272 8:99820031:A:G 8 99820031 A G 8:100832259 0.964809 423 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Other functional intestinal disroders 0.00067 0.9701 0.2852 VPS13B rs140095832 8:99821393:G:T 8 99821393 G T 8:100833621 0.993944 798 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cohen syndrome;History of neurodevelopmental disorder;not provided;not specified Complications of cardiac and vascular prosthetic devices, implants and grafts 0.000563 5.4546 1.5817 Disorders of the thyroid gland 4.186e-05 3.449 0.842 VPS13B rs149842139 8:99832630:C:T 8 99832630 C T 8:100844858 0.968654 1008 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cohen syndrome;History of neurodevelopmental disorder;not provided;not specified Inguinal or femoral hernia, bilateral 0.000519 1.564 0.4506 Transport accidents 0.001045 80.94 24.691 VPS13B rs138127778 8:99848882:C:T 8 99848882 C T 8:100861110 0.932033 1061 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cohen syndrome;History of neurodevelopmental disorder;not provided;not specified Complications of genitourinary prosthetic devices, implants and grafts 0.000504 3.9616 1.1388 General examination and investigation of persons without complaint and reported diagnosis 0 4.484 0 VPS13B rs6468694 8:99853608:G:A 8 99853608 G A 8:100865836 0.998138 34016 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coronary atherosclerosis 0.000927 -0.076 0.023 0.0002846 0.345 0.095 SPAG1 rs17335870 8:100194163:G:A 8 100194163 G A 8:101206391 0.999364 69321 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postpartum haemorrhage 0.00134 -0.1072 0.0334 Proliferative diabetic retinopathy 7.168e-05 -0.106 0.027 SPAG1 rs56246127 8:100194231:A:AGAC 8 100194231 A AGAC 8:101206459 0.999132 69309 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postpartum haemorrhage 0.00131 -0.1074 0.0334 Proliferative diabetic retinopathy 7.09e-05 -0.106 0.027 SPAG1 rs752257877 8:100213096:C:T 8 100213096 C T 8:101225324 0.901006 5686 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 28 Ohter specific/unspecified arthritis 0.00095 0.3455 0.1046 Symptoms and signs involving the digestive system and abdomen 5.647e-07 0.905 0.181 SPAG1 rs148883126 8:100239389:A:T 8 100239389 A T 8:101251617 0.989226 613 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasms 0.000387 0.3735 0.1053 SPAG1 rs6511 8:100240452:T:C 8 100240452 T C 8:101252680 0.998234 0.617184 139636 87110 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adult-onset Still disease 7.01e-05 -0.1182 0.0297 Adult-onset Still disease 2.464e-05 -0.089 0.021 GRHL2 rs3735709 8:101543246:A:G 8 101543246 A G 8:102555474 0.99713 14395 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Fourth [trochlear] nerve palsy 0.000144 1.0451 0.2749 Toxic effect of ethanol 0.0001205 2.889 0.751 GRHL2 rs561693958 8:101543303:C:G 8 101543303 C G 8:102555531 0.951347 150 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of breast, intraductal 0.000143 6.412 1.6858 GRHL2 rs142411476 8:101558682:G:A 8 101558682 G A 8:102570910 0.905939 139 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Coronary atherosclerosis 0.000122 1.3457 0.3502 GRHL2 rs3779617 8:101619683:G:A 8 101619683 G A 8:102631911 0.991962 9909 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Osteopathies and chondropathies 0.000472 -0.1844 0.0527 Other congenital malformations of face and neck 0.0001234 5.933 1.545 RRM2B rs5893603 8:102238611:C:CG 8 102238611 C CG 8:103250839 0.995548 21667 pLoF both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Ascending colon 0.000547 -0.3373 0.0976 Guillain-Barre syndrome 0.001886 2.574 0.828 RRM2B rs200373694 8:102238731:C:G 8 102238731 C G 8:103250959 0.975823 0.000767581 0 282 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to alcohol, excluding acute intoxication 2.31e-05 1.6387 0.3872 RIMS2 rs188770151 8:103766524:A:G 8 103766524 A G 8:104778752 0.992994 0.00235718 2 864 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Papilloedema, unspecified 7.66e-05 6.4351 1.6272 RIMS2 rs61753731 8:103931324:A:C 8 103931324 A C 8:104943552 0.980272 3797 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myositis 0.000756 1.6575 0.4921 Pyogenic granuloma 7.175e-05 35.878 9.036 ZFPM2 rs121908601 8:105419192:A:G 8 105419192 A G 8:106431420 0.993022 471 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter 46,XY sex reversal 9;Diaphragmatic hernia 3;Double outlet right ventricle;Tetralogy of Fallot Disorders of psychological developtment 0.000315 2.1407 0.5941 Mesothelioma 0.0002784 246.181 67.733 ZFPM2 rs202217256 8:105444372:G:A 8 105444372 G A 8:106456600 0.991154 599 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis, primary 0.00101 0.7508 0.2284 ZFPM2 rs202204708 8:105788864:A:G 8 105788864 A G 8:106801092 0.94819 200 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epidural haemorrhage 0.0017 16.8859 5.3796 ZFPM2 rs11993776 8:105801290:C:G 8 105801290 C G 8:106813518 0.995476 27157 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Peripheral nerves and autonomic nervous system (other cancers excluded from controls) 0.000203 0.8069 0.2172 Tibial collateral bursitis [Pellegrini-Stieda] 0.0002879 3.135 0.864 ZFPM2 rs187043152 8:105801714:G:A 8 105801714 G A 8:106813942 0.997349 1608 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter 46,XY sex reversal 9;Tetralogy of Fallot;not provided;not specified Seborrhoeic dermatitis 0.00113 1.2369 0.38 0.001243 -3.479 1.078 ZFPM2 rs117908591 8:105802369:G:A 8 105802369 G A 8:106814597 0.992474 0.00230546 6 841 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter 46,XY sex reversal 9 Outcome of delivery 2.17e-05 1.0223 0.2407 Mesothelioma 0.0003367 209.98 58.567 ZFPM2 rs2920048 8:105802428:G:C 8 105802428 G C 8:106814656 0.990653 27156 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Unspecified fall 0.000409 0.8923 0.2525 Other specified/unspecified bacterial intestinal infections 0.0005474 0.883 0.256 ZFPM2 rs146423225 8:105802747:C:G 8 105802747 C G 8:106814975 0.999192 6947 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter 46,XY sex reversal 9 Atrial fibrillation and flutter with reimbursement 0.0014 0.2398 0.0751 Complications of procedures, not elsewhere classified 0.001469 0.821 0.258 ZFPM2 rs201707218 8:105803051:G:A 8 105803051 G A 8:106815279 0.869766 85 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other special examinations and investigations of persons without complaint or reported diagnosis 0.00075 -0.9645 0.2862 TRHR rs147019235 8:109119324:G:A 8 109119324 G A 8:110131553 0.996052 1230 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of head 0.000284 1.0735 0.2957 Other congenital malformations of face and neck 0.001625 55.961 17.757 PKHD1L1 rs72687022 8:109452281:G:A 8 109452281 G A 8:110464510 0.99394 669 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified mental retardation 0.000114 7.6649 1.9866 SYBU rs112294178 8:109579922:A:G 8 109579922 A G 8:110592151 0.999804 0.0115763 58 4195 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Panniculitis, unspecified 7.23e-06 3.717 0.8284 Fistulae involving female genital tract 8.399e-05 32.593 8.288 CSMD3 rs61753739 8:112636849:C:T 8 112636849 C T 8:113649078 0.994196 802 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of pancreas 0.000323 2.9258 0.8135 RAD21 rs144953114 8:116852066:A:C 8 116852066 A C 8:117864305 0.871975 87 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adrenocortical insufficiency 0.000324 18.8822 5.2521 RAD21 rs16889042 8:116866762:C:T 8 116866762 C T 8:117879001 0.907791 257 LC both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of breast 0.000662 1.4095 0.414 SLC30A8 rs13266634 8:117172544:C:T 8 117172544 C T 8:118184783 0.998683 0.376041 52102 86051 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Type 2 diabetes, definitions combined 1.39e-10 -0.0781 0.0122 Type 2 diabetes, definitions combined 8.433e-09 -0.069 0.012 EXT1 rs144550328 8:117822563:C:T 8 117822563 C T 8:118834802 0.919205 120 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Complications following infusion, transfusion and therapeutic injection 0.000645 23.6949 6.9444 EXT1 rs11546829 8:117835543:G:A 8 117835543 G A 8:118847782 0.998596 68159 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Respiratory conditions due to other external agents 0.000244 -0.5222 0.1424 Type 2 diabetes 0.0003296 -0.06 0.017 TNFRSF11B rs2073618 8:118951813:G:C 8 118951813 G C 8:119964052 0.999965 91180 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified dermatitis 0.000377 -0.0583 0.0164 Tibial collateral bursitis [Pellegrini-Stieda] 0.0003653 0.404 0.113 ENPP2 rs61738778 8:119557583:G:A 8 119557583 G A 8:120569823 0.974942 2382 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Certain disorders involving the immune mechanism 0.000555 0.6991 0.2025 Pediculosis, acariasis and other infestations 0.0002267 20.038 5.434 ENPP2 rs145333587 8:119595989:C:T 8 119595989 C T 8:120608229 0.972505 11494 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glomerular disorders in diseases classified elsewhere 0.00283 0.3349 0.1122 Other/unspecified synovitis and tenosynovitis 0.001534 1.564 0.494 TAF2 rs149772375 8:119788818:T:A 8 119788818 T A 8:120801058 0.957834 0.000734918 0 270 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic conjunctivitis 6.17e-06 14.7049 3.253 TAF2 rs200354353 8:119803944:C:T 8 119803944 C T 8:120816184 0.990955 4573 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 0.000389 0.153 0.0431 0.002953 5.894 1.983 COL14A1 rs114262403 8:120231499:G:A 8 120231499 G A 8:121243738 0.976162 11302 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of other and unspecified substances 0.000809 1.2275 0.3665 Acute upper respiratory infections of multiple and unspecified sites 8.317e-06 0.653 0.146 COL14A1 rs115276090 8:120247663:C:T 8 120247663 C T 8:121259902 0.982691 485 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fibromyalgia 0.000391 3.7126 1.047 COL14A1 rs11774228 8:120255251:G:A 8 120255251 G A 8:121267490 0.895711 514 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Colon (other cancers excluded from controls) 0.000336 1.014 0.2828 Dorsalgia 0 4.344 0 FER1L6 rs74808242 8:123966166:T:A 8 123966166 T A 8:124978406 0.950865 0.00881357 48 3190 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Labour and delivery complicated by fetal stress [distress] 5.16e-05 0.6534 0.1614 Chronic pancreatitis 0.00202 6.597 2.137 FER1L6 rs200894396 8:124049709:G:T 8 124049709 G T 8:125061950 0.979562 6082 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of male genital organs 0.000102 0.1905 0.049 Nontoxic single thyroid nodule 0.0003662 6.497 1.823 FER1L6 rs117275600 8:124060286:T:G 8 124060286 T G 8:125072527 0.905362 0.003005 8 1096 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Elevated blood glucose level 9.14e-06 2.8881 0.651 Universal eryhrodermia, KELA reimbursement 0.001281 129.402 40.185 NDUFB9 rs34095749 8:124547174:C:T 8 124547174 C T 8:125559415 0.988733 30068 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter severe traumatic brain injury, does not include concussion 0.000185 0.1968 0.0526 severe traumatic brain injury, does not include concussion 4.93e-05 0.521 0.128 NDUFB9 rs10195 8:124549788:C:T 8 124549788 C T 8:125562029 0.996052 47138 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified necrotizing vasculopathies 0.000716 0.5804 0.1715 Carcinoma in situ of skin of trunk 0.0009344 1.038 0.314 NDUFB9 rs6470252 8:124567749:C:T 8 124567749 C T 8:125579990 0.999095 0.752379 208212 68203 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified haematuria 2.75e-05 -0.1015 0.0242 Unspecified haematuria 0.000158 -0.056 0.015 KIAA0196 rs138407503 8:125032257:C:T 8 125032257 C T 8:126044499 0.997462 5546 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dandy-Walker like malformation with atrioventricular septal defect;Spastic paraplegia 8;Spastic paraplegia, autosomal dominant;not provided;not specified Benign neoplasm: Long bones of lower limb (other cancers excluded from controls) 0.00165 1.034 0.3286 Colectomy operation 0.001525 4.114 1.298 KIAA0196 rs202165114 8:125063584:C:T 8 125063584 C T 8:126075826 0.995308 3358 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Functional dyspepsia 0.000497 0.4535 0.1302 Thyrotoxicosis, other and/or unspecified 0.004564 4.865 1.715 KIAA0196 rs72720524 8:125078802:G:A 8 125078802 G A 8:126091044 0.997076 1835 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Juvenile osteochondrosis 0.00136 1.8344 0.5729 KCNQ3 rs201328910 8:132129551:C:T 8 132129551 C T 8:133141798 0.979032 440 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Vitamin D deficiency 0.00148 8.9902 2.8292 KCNQ3 rs2303995 8:132163489:T:C 8 132163489 T C 8:133175736 0.977873 12678 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign Neonatal Epilepsy;Benign familial neonatal seizures;Benign familial neonatal seizures 2;Seizures;not specified Other contact dermatitis 0.000138 0.4689 0.123 Cholelithiasis 0.000488 0.468 0.134 LRRC6 rs9297853 8:132572310:A:G 8 132572310 A G 8:133584558 0.988953 23479 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Foreign body in alimentary tract 0.00133 0.392 0.1221 Problems related to employment and unemployment 6.076e-05 3.002 0.749 LRRC6 rs2293979 8:132625413:G:A 8 132625413 G A 8:133637659 0.995997 83628 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of lower leg 0.000384 0.1423 0.0401 Open wound of thorax 0.0001136 0.476 0.123 LRRC6 rs141945265 8:132632819:G:C 8 132632819 G C 8:133645065 0.989141 631 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatographic urticaria 0.000132 3.4124 0.8926 TG rs116340633 8:132869751:G:A 8 132869751 G A 8:133881996 0.966046 0.0153326 110 5523 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nontoxic multinodular goitre 9.08e-07 0.5876 0.1197 Other secondary gonarthrosis 7.041e-05 11.699 2.943 TG rs142698837 8:132869781:G:A 8 132869781 G A 8:133882026 0.950657 0.00103433 0 380 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 3.61e-05 4.222 1.022 TG rs35301433 8:132871398:A:G 8 132871398 A G 8:133883643 0.916909 1220 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Death due to cardiac causes 0.000478 0.6251 0.179 TG rs180222 8:132886915:C:G 8 132886915 C G 8:133899160 0.982985 0.0119819 72 4330 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Thyroid dyshormonogenesis;not specified Nontoxic diffuse goitre 3.91e-05 1.5546 0.378 Respiratory and cardiovascular disorders specific to the perinatal period 0.001174 76.528 23.583 TG rs771807370 8:132887335:C:T 8 132887335 C T 8:133899580 0.968283 0.00112415 4 409 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism,other/unspecified 4.35e-08 1.0209 0.1864 0.001072 67.815 20.733 TG rs200611812 8:132887522:G:A 8 132887522 G A 8:133899767 0.992745 848 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Thyroid dyshormonogenesis Amyloidosis 0.001 4.6031 1.399 Endocrine, nutritional and metabolic diseases 0 2.124 0 TG rs180223 8:132888007:T:G 8 132888007 T G 8:133900252 0.996728 89722 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Female infertility, tubal origin 0.000228 0.2196 0.0596 Pain in thoracic spine 0.0001468 0.099 0.026 TG rs16904774 8:132888250:G:A 8 132888250 G A 8:133900495 0.999004 17557 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyroid dyshormonogenesis Other disorders of optic [2nd] nerve and visual pathways 0.000853 -0.4525 0.1357 Cervical root disorders 0.000966 4.928 1.493 TG rs2229843 8:132888417:G:T 8 132888417 G T 8:133900662 0.982374 628 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified paralytic syndromes 0.000615 7.1767 2.0955 TG rs16893332 8:132893891:G:C 8 132893891 G C 8:133906136 0.998831 17558 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyroid dyshormonogenesis Other disorders of optic [2nd] nerve and visual pathways 0.000849 -0.4527 0.1357 Cervical root disorders 0.000966 4.928 1.493 TG rs142998186 8:132893905:G:A 8 132893905 G A 8:133906150 0.982751 453 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathies, Primary/intrinsic 0.00157 1.9446 0.615 TG rs853326 8:132897729:A:G 8 132897729 A G 8:133909974 0.99552 89706 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Female infertility, tubal origin 0.000179 0.2235 0.0596 Pain in thoracic spine 0.0001455 0.099 0.026 TG rs138469414 8:132901502:G:A 8 132901502 G A 8:133913747 0.998856 0.00930624 36 3383 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Thyroid dyshormonogenesis Nontoxic multinodular goitre 2.03e-07 0.8122 0.1563 Thyrotoxicosis with toxic multinodular goitre 0.0004709 13.328 3.812 TG rs142335537 8:132906700:C:T 8 132906700 C T 8:133918945 0.993473 3855 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Thyroid dyshormonogenesis Hypothyroidism and >3 levothyroxin purchases 0.000492 -0.2504 0.0719 Persons encountering health services in circumstances related to reproduction 0.00141 0.817 0.256 TG rs199615848 8:132913265:G:A 8 132913265 G A 8:133925510 0.973713 0.000555271 0 204 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic multinodular goitre 6.52e-05 3.3068 0.8281 TG rs2069561 8:132963038:G:A 8 132963038 G A 8:133975283 0.999308 89541 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism (congenital or acquired) 0.000535 -0.0523 0.0151 Hypothyroidism (congenital or acquired) 4.646e-05 -0.046 0.011 TG rs56230101 8:132969515:T:C 8 132969515 T C 8:133981760 0.947124 22544 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thyroid dyshormonogenesis;not specified Parkinson's disease 0.000953 0.2471 0.0748 Family history of malignant neoplasm 0.000225 1.207 0.327 TG rs190914906 8:132971802:A:G 8 132971802 A G 8:133984047 0.997191 1657 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Thyroid dyshormonogenesis Acute nephritic syndrome 0.000672 2.5668 0.7548 Visual field defects 0.0004298 14.854 4.219 TG rs2076740 8:132971813:C:T 8 132971813 C T 8:133984058 0.996598 80058 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Procedures for purposes other than remedying health state 0.00161 -0.2762 0.0876 Abnormal findings on examination of blood, without diagnosis 0.0002541 -0.087 0.024 TG rs61741457 8:133012033:C:T 8 133012033 C T 8:134024278 0.985321 17079 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other systemic involvement of connective tissue (FG) 0.00031 0.2217 0.0615 Varicose veins 0.000515 -0.348 0.1 TG rs201930579 8:133022066:G:A 8 133022066 G A 8:134034311 0.970247 841 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Thyroid dyshormonogenesis Non-ischemic cardiomyopathy 0.00042 0.622 0.1763 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0 3.888 0 TG rs2069569 8:133096302:T:C 8 133096302 T C 8:134108546 0.996966 90898 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Redundant prepuce, phimosis and paraphimosis 0.000305 0.0996 0.0276 Spontaneous abortion 0.0003743 0.067 0.019 TG rs1133076 8:133113438:G:A 8 133113438 G A 8:134125682 0.99849 0.568464 119054 89793 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism,other/unspecified 4.43e-05 -0.0493 0.0121 Hypothyroidism,other/unspecified 8.735e-05 -0.035 0.009 WISP1 rs139669488 8:133220665:C:T 8 133220665 C T 8:134232908 0.884987 119 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis of knee 0.00124 19.5703 6.0582 NDRG1 rs765621411 8:133239012:G:A 8 133239012 G A 8:134251255 0.811588 114 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other/unspecified rheumatoid arthritis 0.00186 4.3005 1.3824 NDRG1 rs2233328 8:133259226:T:G 8 133259226 T G 8:134271469 0.983939 3599 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;not specified Cellulitis 0.000458 -0.5417 0.1546 Pre-existing hypertension complicating pregnancy, childbirth and the puerperium 0.001927 7.285 2.349 ZFAT rs142331855 8:134602083:G:A 8 134602083 G A 8:135614326 0.95388 2805 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspcified rosacea 0.000485 1.1492 0.3294 Dermatitis herpetiformis 1.852e-05 65.045 15.19 ZFAT rs112892337 8:134602310:G:C 8 134602310 G C 8:135614553 0.941475 287 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Bronchitis, not specified as acute or chronic 0.00104 2.8766 0.8774 TRAPPC9 rs147127279 8:139731094:A:C 8 139731094 A C 8:140743337 0.98595 0.00305399 2 1120 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Colon adenocarcinoma (other cancers excluded from controls) 3.25e-05 1.7938 0.4317 TRAPPC9 rs147499593 8:139732101:G:A 8 139732101 G A 8:140744344 0.982696 859 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Symptoms and signs involving emotional state 0.00204 3.0829 0.9994 TRAPPC9 rs375300224 8:140287691:G:A 8 140287691 G A 8:141297790 0.92943 313 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified dermatitis 0.000551 1.0536 0.305 TRAPPC9 rs139631202 8:140451111:G:A 8 140451111 G A 8:141461210 0.996881 0.00164948 0 606 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other meningitis 4.36e-05 9.6631 2.364 SLC45A4 rs140681246 8:141215862:T:C 8 141215862 T C 8:142225961 0.987085 7047 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other menopausal disorders 0.000324 0.6286 0.1748 Intestinal infectious diseases 5.957e-05 0.757 0.189 TSNARE1 rs199875184 8:142344461:C:A 8 142344461 C A 8:143425822 0.962067 461 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyrotoxicosis 0.000278 1.5075 0.4147 SLURP1 rs200727790 8:142741803:C:T 8 142741803 C T 8:143823221 0.801811 250 missense_variant recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of corpus uteri 0.000654 4.258 1.2494 CYP11B1 rs4541 8:142875277:G:A 8 142875277 G A 8:143956693 0.998049 8924 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital adrenal hyperplasia;Hyperaldosteronism, familial, type I Palindromic rheumatism 0.000359 1.8511 0.5188 Benign neoplasm: Parotid gland (other cancers excluded from controls) 0.0007541 3.337 0.99 CYP11B1 rs141368413 8:142876372:A:G 8 142876372 A G 8:143957788 0.998813 7260 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital adrenal hyperplasia;Hyperaldosteronism, familial, type I Other headache syndromes 0.00163 0.2105 0.0668 Disorders of synovium and tendon in diseases classified elsewhere 0.0009774 10.952 3.322 CYP11B1 rs4534 8:142879686:C:T 8 142879686 C T 8:143961102 0.999291 8970 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital adrenal hyperplasia;Hyperaldosteronism, familial, type I Palindromic rheumatism 0.000372 1.8402 0.5171 Benign neoplasm: Parotid gland (other cancers excluded from controls) 0.0007586 3.331 0.989 CYP11B1 rs139569725 8:142879737:G:A 8 142879737 G A 8:143961153 0.948583 94 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Major coronary heart disease event 0.000592 1.6939 0.4931 CYP11B2 rs4545 8:142912625:C:T 8 142912625 C T 8:143994041 0.997773 16872 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corticosterone methyloxidase type 2 deficiency;not specified Palindromic rheumatism 0.00046 1.2639 0.3608 Prepatellar bursitis 8.879e-05 2.494 0.636 CYP11B2 rs4544 8:142913390:A:G 8 142913390 A G 8:143994806 0.998411 1952 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corticosterone methyloxidase type 1 deficiency;Corticosterone methyloxidase type 2 deficiency;Hyperaldosteronism, familial, type I Multiple myeloma and malignant plasma cell neoplasms (other cancers excluded from controls) 0.00131 1.7542 0.5457 0.0005512 1.238 0.358 CYP11B2 rs4539 8:142915123:T:C 8 142915123 T C 8:143996539 0.998921 0.497058 91026 91587 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Manic episode 1.89e-05 -0.278 0.065 Hypertension 7.237e-05 -0.032 0.008 FAM83H rs117987215 8:143726402:C:T 8 143726402 C T 8:144808572 0.944132 1210 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Short stature, not elsewhere classified 0.00114 4.404 1.3542 Congenital malformations of cardiac septa 0.001891 46.789 15.06 FAM83H rs142153660 8:143727551:G:A 8 143727551 G A 8:144809721 0.991759 2960 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Family history of certain disabilities and chronic diseases leading to disablement 0.00043 1.6844 0.4784 Malignant neoplasm of colon 0.0006065 12.357 3.604 FAM83H rs1137806 8:143727968:G:A 8 143727968 G A 8:144810138 0.989957 49874 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unstable angina pectoris 0.00011 -0.1172 0.0303 Atrial fibrillation and flutter with reimbursement 6.266e-05 -0.178 0.045 FAM83H rs189033490 8:143729170:G:A 8 143729170 G A 8:144811340 0.990093 656 pLoF dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Adjustment and management of implanted device 0.000337 1.6878 0.4707 Benign neoplasm: Rectum/anal canal icd-9 0.0001458 432.391 113.841 PLEC rs113513807 8:143916616:G:A 8 143916616 G A 8:144990784 0.991457 3531 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not specified Melanocytic naevi of trunk 0.000693 0.7819 0.2305 Fibroblastic disorders 0.0006136 3.33 0.972 PLEC rs201688261 8:143917103:C:T 8 143917103 C T 8:144991271 0.927276 112 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Conjunctivitis (acute, non atopic) 0.00116 2.6345 0.8109 PLEC rs192468687 8:143917444:C:T 8 143917444 C T 8:144991612 0.961774 184 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Trigeminal neuralgia 0.000153 7.222 1.9079 PLEC rs200206105 8:143917631:C:T 8 143917631 C T 8:144991799 0.990993 0.00320098 4 1172 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of skin of upper limb, including shoulder (other cancers excluded from controls) 5.36e-05 6.8652 1.6997 PLEC rs78461695 8:143918101:G:A 8 143918101 G A 8:144992269 0.945131 1609 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not specified Chronic hepatitis NAS 0.00364 2.9027 0.9981 Third [oculomotor] nerve palsy 0.000442 169.684 48.293 PLEC rs200722246 8:143918227:C:T 8 143918227 C T 8:144992395 0.943756 1656 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Carcinoma in situ of skin of trunk 0.000156 4.3764 1.1574 Abscess of anal and rectal regions 2.739e-05 43.869 10.459 PLEC rs202001247 8:143919362:C:T 8 143919362 C T 8:144993530 0.963423 0.00060971 0 224 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition 6.83e-06 2.3344 0.5189 PLEC rs35261863 8:143919763:C:G 8 143919763 C G 8:144993931 0.990407 2732 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not specified Occlusion and stenosis of arteries, not leading to stroke 0.000405 2.8145 0.7958 Diabetic background retinopathy 0.0001609 7.826 2.074 PLEC rs34132016 8:143919860:C:T 8 143919860 C T 8:144994028 0.967264 828 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary angle-closure glaucoma 0.000667 2.9458 0.8657 PLEC rs77303974 8:143919896:G:A 8 143919896 G A 8:144994064 0.955581 1413 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided;not specified Malignant neoplasm of stomach (other cancers excluded from controls) 0.000831 1.9547 0.5848 Cerebrovascular diseases (FINNGEN) 0.0007161 2.865 0.847 PLEC rs199603833 8:143920021:C:T 8 143920021 C T 8:144994189 0.976037 1097 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q ILD-related co-morbidities 0.000132 0.2577 0.0674 Hereditary ataxia 0.0003797 194.668 54.778 PLEC rs35858667 8:143920720:G:A 8 143920720 G A 8:144994888 0.980727 24135 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Pain in throat and chest 0.00238 0.0707 0.0233 Carcinoma in situ of breast (other cancers excluded from controls) 0.001351 1.004 0.313 PLEC rs58308209 8:143921001:G:C 8 143921001 G C 8:144995169 0.996819 1083 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided;not specified Hypo-osmolality and hyponatraemia 0.000133 1.3327 0.3488 Toxic liver disease 0.000303 237.688 65.791 PLEC rs200814155 8:143921315:C:T 8 143921315 C T 8:144995483 0.820389 0.00120037 2 439 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acne 2.17e-05 3.5402 0.8336 PLEC rs6558407 8:143921326:C:T 8 143921326 C T 8:144995494 0.999415 87966 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coxarthrosis, 0.000102 0.071 0.0183 Benign neoplasm: Brain, supratentorial 0.0008552 0.357 0.107 PLEC rs199720608 8:143921332:T:C 8 143921332 T C 8:144995500 0.945166 0.0180545 122 6511 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not specified Sequelae of cerebrovascular disease 6.05e-05 -0.3836 0.0956 Mental and behavioural disorders due to tobacco 0.0002975 7.143 1.975 PLEC rs35723243 8:143921771:G:A 8 143921771 G A 8:144995939 0.98425 11615 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not specified Fracture of neck 0.000408 0.6673 0.1888 Other disorders of nervous system 5.63e-05 3.71 0.921 PLEC rs28526657 8:143921809:C:T 8 143921809 C T 8:144995977 0.996886 0.00307849 6 1125 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided;not specified Hypo-osmolality and hyponatraemia 7.4e-05 1.3769 0.3474 Toxic liver disease 0.000303 237.688 65.791 PLEC rs7833924 8:143921861:A:G 8 143921861 A G 8:144996029 0.999565 88283 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coxarthrosis, 0.000137 0.0696 0.0183 Benign neoplasm: Brain, supratentorial 0.0012 0.344 0.106 PLEC rs193257576 8:143922662:C:T 8 143922662 C T 8:144996830 0.981692 455 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Allergic asthma (mode) (more controls excluded) 0.00117 1.1887 0.3663 PLEC rs74772299 8:143923615:G:A 8 143923615 G A 8:144997783 0.985335 13211 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Excessive, freguent and irrelgular menstruation 0.000539 0.1298 0.0375 Postmenopausal bleeding 0.0003341 0.742 0.207 PLEC rs782278608 8:143923663:G:A 8 143923663 G A 8:144997831 0.967328 1414 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Chlocystitis 0.000768 1.036 0.308 Vitamin B12 deficiency anaemia 0.0004835 12.893 3.694 PLEC rs7002002 8:143923759:G:A 8 143923759 G A 8:144997927 0.999441 0.399044 58590 88014 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coxarthrosis, 8.48e-05 0.0718 0.0183 Benign neoplasm: Brain, supratentorial 0.0008509 0.357 0.107 PLEC rs367715805 8:143923867:G:A 8 143923867 G A 8:144998035 0.955114 385 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other peripheral vertigo 0.000677 2.8567 0.8405 PLEC rs781811075 8:143923988:G:A 8 143923988 G A 8:144998156 0.875886 151 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of pericardium 0.00074 12.4134 3.6788 PLEC rs201070741 8:143924276:C:T 8 143924276 C T 8:144998444 0.989 2427 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not specified Benign lipomatous neoplasm 0.000541 0.4965 0.1435 Lichen sclerosus et atrophicus 0.0004459 15.025 4.279 PLEC rs200949161 8:143924347:G:A 8 143924347 G A 8:144998515 0.880795 200 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute suppurative otitis media 0.00143 1.7246 0.5409 PLEC rs147838690 8:143924452:C:T 8 143924452 C T 8:144998620 0.962111 0.0478949 832 16764 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided;not specified Migraine 5.61e-05 -0.1762 0.0437 Hodgkin lymphoma 0.0004637 3.717 1.062 PLEC rs200575795 8:143924453:G:A 8 143924453 G A 8:144998621 0.844288 327 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pure hyperglyceridaemia 0.000974 9.8325 2.9814 PLEC rs542642242 8:143924458:G:A 8 143924458 G A 8:144998626 0.961095 0.00219931 8 800 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided;not specified Enlarged lymph nodes 8.5e-05 1.6665 0.4241 Spermatocele 0.0001888 12.26 3.284 PLEC rs782766351 8:143925086:G:C 8 143925086 G C 8:144999254 0.876091 433 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other otitis externa (chronic) 0.00119 3.5015 1.0801 PLEC rs2857824 8:143925278:G:A 8 143925278 G A 8:144999446 0.928051 294 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Helminthiases 0.000913 10.0633 3.0348 PLEC rs201430180 8:143925331:C:T 8 143925331 C T 8:144999499 0.981726 834 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not provided;not specified Rheumatic fever incl heart disease 0.000739 2.8659 0.8493 Malignant neoplasm of eye and adnexa 0.0005124 150.287 43.258 PLEC rs182120395 8:143925373:G:A 8 143925373 G A 8:144999541 0.928451 1072 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not specified Anomalies of pupillary function 0.000423 4.8622 1.3793 Hypertrichosis 0.0002029 241.232 64.927 PLEC rs186848953 8:143925563:C:T 8 143925563 C T 8:144999731 0.932291 1157 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diabetic hypoglycemia 0.00162 -0.805 0.2554 PLEC rs55895668 8:143926863:T:C 8 143926863 T C 8:145001031 0.999703 88311 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coxarthrosis, 0.000123 0.0701 0.0183 Benign neoplasm: Brain, supratentorial 0.001193 0.344 0.106 PLEC rs11136334 8:143927420:C:T 8 143927420 C T 8:145001588 0.999397 0.399009 58618 87973 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coxarthrosis, 8.76e-05 0.0716 0.0183 Benign neoplasm: Brain, supratentorial 0.0008459 0.358 0.107 PLEC rs144610086 8:143927484:G:A 8 143927484 G A 8:145001652 0.977452 9409 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not specified Secondary parkinsonism+Parkinsonism in other disease 0.000258 0.9602 0.2628 Other general symptoms and signs 0.0008696 5.075 1.524 PLEC rs529986115 8:143929187:G:A 8 143929187 G A 8:145003355 0.867742 153 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasms of connective and other soft tissue 0.00015 5.3613 1.4145 PLEC rs3135103 8:143932824:C:T 8 143932824 C T 8:145006992 0.985091 10512 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysa bullosa simplex and limb girdle muscular dystrophy;Epidermolysis bullosa simplex with nail dystrophy;Epidermolysis bullosa simplex with pyloric atresia;Epidermolysis bullosa simplex, Ogna type;Limb-girdle muscular dystrophy, type 2Q;not specified Dementia due to Parkinsons disease 0.000353 1.032 0.2888 Hypopituitarism 0.0009816 3.11 0.944 PLEC rs530596364 8:143932984:C:T 8 143932984 C T 8:145007152 0.942631 681 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Crushing injury of wrist and hand 0.000753 7.5018 2.2265 PLEC rs11136336 8:143933019:G:A 8 143933019 G A 8:145007187 0.998888 0.388856 55602 87259 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coxarthrosis, 6.88e-05 0.073 0.0183 Benign neoplasm: Brain, supratentorial 0.001006 0.36 0.109 PLEC rs138924815 8:143934868:C:T 8 143934868 C T 8:145009036 0.90552 0.00316559 2 1161 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Scleritis and episcleritis 2.67e-05 2.8272 0.6732 PLEC rs199985628 8:143938633:T:C 8 143938633 T C 8:145012801 0.974957 0.0148399 82 5370 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonia derived septichemia 8.6e-05 1.4805 0.377 Other disorders of eyelid 0.001434 2.036 0.639 PLEC rs200878086 8:143950460:G:A 8 143950460 G A 8:145024628 0.991706 553 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Disorders of ocular muscles, binocular movement, accommodation and refraction 0.000532 0.8681 0.2506 0 4.059 0 OPLAH rs185836803 8:144052487:C:T 8 144052487 C T 8:145107390 0.966487 4552 missense_variant both Conflicting interpretations of pathogenicity Conflicting no assertion criteria provided no_Criteria 5-Oxoprolinase deficiency Retinal haemorrhage 0.000599 1.8765 0.5467 Cervical root disorders 0.00397 25.479 8.845 OPLAH rs200620019 8:144053012:G:A 8 144053012 G A 8:145107915 0.989467 716 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in other circumstances 0.000286 0.4524 0.1247 OPLAH rs200702041 8:144053288:T:C 8 144053288 T C 8:145108191 0.903232 369 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anaemias 0.00148 -0.9619 0.3026 0.007826 12.964 4.875 GPAA1 rs112703109 8:144084422:G:C 8 144084422 G C 8:145139325 0.972169 2292 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dry age-related macular degeneration (includes geographic atrophy) 0.000173 0.8665 0.2307 Mental disorders, not otherwise specified 8.788e-05 23.225 5.922 GPAA1 rs112521600 8:144085661:G:A 8 144085661 G A 8:145140564 0.979159 1515 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other orthopaedic follow-up care 0.00136 1.4863 0.4639 Voice disturbances 2.73e-05 12.926 3.081 CYC1 rs144257411 8:144095930:T:C 8 144095930 T C 8:145150833 0.93508 2900 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Diseases of the myoneural junction and muscle 0.000564 0.8149 0.2363 Secondary hypertension 0.000482 13.863 3.972 SHARPIN rs112552278 8:144098948:C:T 8 144098948 C T 8:145153851 0.965833 2529 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer disease 0.000187 0.6714 0.1797 Mental disorders, not otherwise specified 8.788e-05 23.225 5.922 SHARPIN rs34674752 8:144099319:G:A 8 144099319 G A 8:145154222 0.989286 14180 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hereditary ataxia 0.00037 1.2834 0.3604 Continuous positive airway pressure 0.001171 0.89 0.274 DGAT1 rs55962377 8:144318103:G:T 8 144318103 G T 8:145541766 0.986853 17422 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Nontoxic single thyroid nodule 0.00103 0.363 0.1106 Undescended testicle 0.0006147 5.751 1.679 DGAT1 rs200950681 8:144318173:C:T 8 144318173 C T 8:145541836 0.943119 2536 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of thorax 0.000388 3.3687 0.9495 Other nutritional anaemias 0.0003006 187.706 51.927 DGAT1 rs55907012 8:144318712:T:C 8 144318712 T C 8:145542375 0.926777 1550 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diffuse brain injury 0.000384 2.1359 0.6015 Chronic hepatitis, not elsewhere classified 0.0001748 216.662 57.731 SLC52A2 rs141698844 8:144359376:A:G 8 144359376 A G 8:145583036 0.809036 0.000685923 2 250 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Colon adenocarcinoma (other cancers excluded from controls) 4.76e-05 4.927 1.2115 SLC52A2 rs117500243 8:144359845:C:A 8 144359845 C A 8:145583505 0.985815 269 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Schizophrenia or delusion (more controls excluded) 0.000508 2.2524 0.6479 SLC39A4 rs2272662 8:144414342:T:C 8 144414342 T C 8:145639726 0.957593 87937 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vasomotor rhinitis (mode) 0.000664 -0.1853 0.0544 Type 2 diabetes with neurological complications 0.0002765 0.15 0.041 SLC39A4 rs17855765 8:144415944:C:T 8 144415944 C T 8:145641328 0.994749 91594 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperaldosteronism 0.00038 -0.3171 0.0892 Impetigo 0.0004465 -0.187 0.053 SLC39A4 rs372812102 8:144415983:C:T 8 144415983 C T 8:145641367 0.842417 105 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parkinson's disease 0.000179 4.956 1.3226 SLC39A4 rs117535951 8:144416033:G:A 8 144416033 G A 8:145641417 0.960276 0.0647517 1622 22167 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary acrodermatitis enteropathica;not specified Lagophthalmos 2.26e-05 1.3099 0.3091 Degeneration of macula and posterior pole 0.001058 0.413 0.126 SLC39A4 rs2280838 8:144416618:C:T 8 144416618 C T 8:145642002 0.990391 90092 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperaldosteronism 0.000258 -0.3285 0.0899 Impetigo 0.0002725 -0.186 0.051 FOXH1 rs117754060 8:144474352:G:C 8 144474352 G C 8:145699735 0.956802 0.000900955 2 329 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and/or unspecified nontoxic goitre 6e-06 5.209 1.1508 FOXH1 rs200115495 8:144474849:G:A 8 144474849 G A 8:145700232 0.925153 327 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Heart failure, not strict 0.00212 -0.6755 0.2198 FOXH1 rs144830740 8:144474998:C:G 8 144474998 C G 8:145700381 0.938121 980 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of oesophagus (other cancers excluded from controls) 0.00112 4.4582 1.3687 GPT rs112574791 8:144504838:G:A 8 144504838 G A 8:145730221 0.992043 4091 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Follow-up examination after treatment for conditions other than malignant neoplasms 0.00107 0.2381 0.0728 Chondromalacia 1.256e-05 20.102 4.602 GPT rs141187317 8:144505426:G:T 8 144505426 G T 8:145730809 0.969427 61 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of lung 0.000407 61.5577 17.4126 GPT rs141505249 8:144506731:G:C 8 144506731 G C 8:145732114 0.9903 0.0282671 332 10053 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of liver 7.28e-05 -0.2764 0.0697 Other ulcerative colitis 0.001322 2.941 0.916 GPT rs147998249 8:144506797:G:C 8 144506797 G C 8:145732180 0.990916 0.02821 340 10024 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of liver 4.8e-05 -0.2843 0.0699 Other ulcerative colitis 0.00141 2.884 0.903 RECQL4 rs61755066 8:144511748:C:G 8 144511748 C G 8:145737131 0.939592 3179 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Baller-Gerold syndrome;not specified Viral hepatitis 0.000693 0.9358 0.2759 Carcinoma in situ of skin of scalp and neck 0.0009324 73.662 22.253 RECQL4 rs202203322 8:144512237:T:C 8 144512237 T C 8:145737620 0.845559 189 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Continuous positive airway pressure 0.000254 2.0125 0.5501 RECQL4 rs754479836 8:144512308:T:C 8 144512308 T C 8:145737691 0.89246 163 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinal haemorrhage 0.000204 16.6859 4.4925 RECQL4 rs34666647 8:144512318:C:T 8 144512318 C T 8:145737701 0.980823 313 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Macular hole 0.00181 5.186 1.6621 RECQL4 rs4251691 8:144512433:C:T 8 144512433 C T 8:145737816 0.990226 91864 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other complications of labour and delivery, not elsewhere classified 0.000791 0.17 0.0507 Torticollis 0.001234 0.263 0.081 RECQL4 rs137975310 8:144512966:G:T 8 144512966 G T 8:145738349 0.937229 0.00129019 0 474 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schizophrenia or delusion (more controls excluded) 1.73e-05 2.1326 0.4962 RECQL4 rs758738837 8:144513027:T:TGGTGCA 8 144513027 T TGGTGCA 8:145738410 0.961641 59 inframe_indel recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abscess of lung 0.000363 70.5735 19.7919 RECQL4 rs34293591 8:144513286:C:T 8 144513286 C T 8:145738669 0.950458 7848 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Baller-Gerold syndrome;not specified Fall on same level 0.000266 0.9383 0.2573 Phlebitis and thrombophlebitis (not including DVT) 0.0007122 2.055 0.607 RECQL4 rs61754061 8:144514032:C:T 8 144514032 C T 8:145739416 0.962069 570 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetic hypoglycemia 0.000469 1.2427 0.3553 RECQL4 rs201734382 8:144514199:C:T 8 144514199 C T 8:145739583 0.917301 180 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of bronchus and lung 0.00398 3.145 1.0923 RECQL4 rs754735053 8:144514988:C:T 8 144514988 C T 8:145740372 0.88291 184 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Complications following abortion and ectopic and molar pregnancy 0.000101 20.7241 5.3315 RECQL4 rs760413890 8:144515407:G:A 8 144515407 G A 8:145740791 0.884484 747 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Sigmoid colon 0.000413 1.6318 0.4621 RECQL4 rs4244612 8:144516318:C:G 8 144516318 C G 8:145741702 0.975104 88832 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other complications of labour and delivery, not elsewhere classified 0.000185 0.1937 0.0518 Other complications of labour and delivery, not elsewhere classified 0.0007743 0.162 0.048 RECQL4 rs2721190 8:144517130:A:G 8 144517130 A G 8:145742514 0.977277 1447 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis 0.000338 -0.5482 0.1529 Endometriosis 0.0002898 -0.279 0.077 RECQL4 rs34642881 8:144517415:T:C 8 144517415 T C 8:145742799 0.94302 1691 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Baller-Gerold syndrome;not specified Nonspesific lymphadenitis 0.0019 1.243 0.4003 Hereditary ataxia 0.0009731 82.533 25.024 RECQL4 rs35198096 8:144517466:T:C 8 144517466 T C 8:145742850 0.960262 58 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abscess of lung 0.000363 70.5667 19.7896 C9orf66 rs76707254 9:214804:A:G 9 214804 A G 9:214804 0.991266 31864 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins 0.000597 0.0843 0.0246 Varicose veins 0.0005361 0.18 0.052 C9orf66 rs2236547 9:214864:C:T 9 214864 C T 9:214864 0.992565 0.175115 11338 52997 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other symptoms and signs involving cognitive functions and awareness 8.62e-05 0.1033 0.0263 6.675e-05 0.332 0.083 C9orf66 rs144097790 9:214919:C:T 9 214919 C T 9:214919 0.979855 2240 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hyper-IgE syndrome Blood alcohol or alcohol intoxication level 0.000227 2.7971 0.7587 Benign neoplasm: Bronchus and lung 0.001405 62.788 19.66 C9orf66 rs148276394 9:214991:G:A 9 214991 G A 9:214991 0.82514 920 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of other body structures 0.000202 2.0978 0.5645 C9orf66 rs481905 9:215057:T:C 9 215057 T C 9:215057 0.973669 0.503454 92946 92017 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins 7.62e-05 0.0581 0.0147 Varicose veins 0.0002269 0.044 0.012 C9orf66 rs636922 9:215269:A:C 9 215269 A C 9:215269 0.989829 80269 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glaucoma 0.000782 0.0683 0.0203 0.0004466 -0.047 0.013 DOCK8 rs506121 9:271638:C:T 9 271638 C T 9:271638 0.987677 87707 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vitreous body and globe 0.000464 0.0709 0.0202 Bullous pemphigoid 0.00122 -0.361 0.112 DOCK8 rs3209441 9:286491:G:A 9 286491 G A 9:286491 0.994515 39339 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Follicular lymphoma (other cancers excluded from controls) 0.00127 0.3542 0.1099 Supervision of high-risk pregnancy 7.916e-05 0.22 0.056 DOCK8 rs529208 9:286593:C:A 9 286593 C A 9:286593 0.995353 90243 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of muscle and tendon at forearm level 0.000569 -0.3625 0.1052 4.01e-06 0.097 0.021 DOCK8 rs150742426 9:289557:G:A 9 289557 G A 9:289557 0.992912 534 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Synovial cyst of popliteal space [Baker] 0.000438 2.7718 0.7883 DOCK8 rs149918318 9:304628:G:A 9 304628 G A 9:304628 0.985404 282 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other abnormal immunological findings in serum 0.000937 10.0619 3.0408 DOCK8 rs369412510 9:311964:G:A 9 311964 G A 9:311964 0.877627 271 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Guttate psoriasis 0.00031 14.7009 4.0759 0 9.035 0 DOCK8 rs200684000 9:311966:C:G 9 311966 C G 9:311966 0.996014 2401 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Faecal incontinence 0.000233 1.1938 0.3244 Chondrocostal junction syndrome [Tietze] 0.001315 67.84 21.116 DOCK8 rs143461644 9:311975:G:A 9 311975 G A 9:311975 0.991449 1818 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyper-IgE syndrome;Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Other or ill-defined heart diseases 0.000133 1.8814 0.4924 Nontoxic multinodular goitre 0.001217 8.341 2.579 DOCK8 rs139391329 9:312088:C:A 9 312088 C A 9:312088 0.996644 499 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinal vascular disorders 0.000491 2.1941 0.6294 DOCK8 rs11789099 9:312134:G:A 9 312134 G A 9:312134 0.980909 6266 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyper-IgE syndrome;Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified Dermatitis due to substances taken internally 0.000455 0.7017 0.2001 Problems related to medical facilities and other health care 0.0001833 8.1 2.165 DOCK8 rs75352090 9:328113:C:T 9 328113 C T 9:328113 0.999133 1112 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;Inborn genetic diseases Sequelae of infectious and parasitic diseases 0.000113 1.7238 0.4464 Benign neoplasm: Colon, unspecified (other cancers excluded from controls) 0.0004744 7.101 2.032 DOCK8 rs10970979 9:334337:A:G 9 334337 A G 9:334337 0.988367 64123 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes 0.000429 -0.0967 0.0275 Iron deficiency anaemia secondary to blood loss (chronic) 3.611e-05 0.233 0.056 DOCK8 rs17673268 9:368128:C:T 9 368128 C T 9:368128 0.989636 44824 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lesion of plantar nerve 0.000863 -0.2366 0.071 Thrombocytopenia, unspecified 0.0006815 0.518 0.153 DOCK8 rs12115599 9:368289:T:C 9 368289 T C 9:368289 0.998681 9684 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of bladder 0.000681 0.5066 0.1491 Peptic ulcer 0.0009371 11.174 3.377 DOCK8 rs145844320 9:396837:G:A 9 396837 G A 9:396837 0.991951 221 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Crohn disease 0.000722 2.8351 0.8386 DOCK8 rs34627722 9:399255:G:A 9 399255 G A 9:399255 0.976781 0.0570378 1294 19661 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyper-IgE syndrome;Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified Acute tubulo-interstitial nephritis 4.84e-05 0.1391 0.0342 Unspecified diabetes without complications 0.0006629 1.165 0.342 DOCK8 rs138810908 9:404995:G:C 9 404995 G C 9:404995 0.988146 210 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Crohn disease 0.000504 3.0427 0.8747 DOCK8 rs34390308 9:406999:C:T 9 406999 C T 9:406999 0.99612 0.00102889 4 374 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not provided Post-traumatic wound infection, not elsewhere classified 2.12e-05 11.7434 2.7617 Mental and behavioural disorders due to tobacco 0.0005758 134.362 39.027 DOCK8 rs116920018 9:420579:A:G 9 420579 A G 9:420579 0.999139 2048 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;not specified Type 1 diabetes with ketoacidosis 0.00043 1.0829 0.3076 Kela-code for behavioural disturbances in mental retardation 0.0008764 95.887 28.817 DOCK8 rs144279637 9:439320:G:A 9 439320 G A 9:439320 0.977843 2110 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive Dry age-related macular degeneration (includes geographic atrophy) 0.000458 0.8462 0.2415 Pyogenic granuloma 0.001249 68.879 21.342 DOCK8 rs34908836 9:449874:G:C 9 449874 G C 9:449874 0.996611 14570 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyper-IgE syndrome;not specified Other keratitis 0.000207 0.3917 0.1056 Olecranon bursitis 0.0004345 2.224 0.632 KANK1 rs61737971 9:710915:A:T 9 710915 A T 9:710915 0.96299 1752 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Malignant neoplasm of breast 0.000224 -0.5419 0.1469 Diseases of the eye and adnexa 0.003364 1.024 0.349 KANK1 rs202042142 9:712498:C:T 9 712498 C T 9:712498 0.991876 708 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyrotoxicosis with diffuse goitr 0.000295 1.6873 0.4662 KANK1 rs3824421 9:712757:C:T 9 712757 C T 9:712757 0.987469 752 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyrotoxicosis with diffuse goitr 0.00044 1.5878 0.4517 DMRT1 rs140506267 9:894044:A:G 9 894044 A G 9:894044 0.881767 0.000977169 2 357 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Lip (other cancers excluded from controls) 2.04e-05 11.1955 2.6281 DMRT3 rs61737966 9:990235:C:T 9 990235 C T 9:990235 0.925792 1950 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conduction disorders 0.000456 0.6326 0.1805 Acute mastoiditis 0.0002984 207.128 57.27 DMRT3 rs142983095 9:990856:G:A 9 990856 G A 9:990856 0.976194 1071 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cellulitis 0.000712 1.0033 0.2964 SMARCA2 rs2296212 9:2191309:C:G 9 2191309 C G 9:2191309 0.996688 0.130824 6432 41631 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Soft tissue disorders 9.87e-05 0.0501 0.0129 Burn and corrosion of ankle and foot 0.001112 1.299 0.398 SMARCA2 rs61736899 9:2191388:G:A 9 2191388 G A 9:2191388 0.994303 384 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-small cell lung cancer, squamous (other cancers excluded from controls) 0.000474 7.5671 2.165 VLDLR rs6149 9:2635545:G:A 9 2635545 G A 9:2635545 0.993256 2590 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital cerebellar hypoplasia;not specified Myeloproliferative diseases (CML excluded) 0.000171 1.5691 0.4175 Polycythaemia vera 0.0002351 19.37 5.267 VLDLR rs139671268 9:2643709:G:A 9 2643709 G A 9:2643709 0.994581 0.00708515 20 2583 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Symptoms and signs involving the circulatory and respiratory systems 7e-05 0.1897 0.0477 Other abnormal uterine and caginal bleeding 5.84e-06 2.377 0.524 VLDLR rs148487944 9:2646492:A:G 9 2646492 A G 9:2646492 0.988669 227 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the thorax 0.000243 1.7139 0.467 KCNV2 rs12352254 9:2729686:C:G 9 2729686 C G 9:2729686 0.999442 26390 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone dystrophy 3;not specified Prepatellar bursitis 0.000851 0.4078 0.1222 Presence of other devices 0.0006013 0.515 0.15 RFX3 rs41314211 9:3271018:G:A 9 3271018 G A 9:3271018 0.988607 0.00949133 38 3449 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other keratitis 2.95e-05 0.9602 0.2299 Benign neoplasm: Lip (other cancers excluded from controls) 4.196e-05 45.501 11.108 GLIS3 rs72687988 9:4117933:C:G 9 4117933 C G 9:4117933 0.984372 443 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperkinetic disorders (excl. ADHD) 0.00035 9.4708 2.6492 GLIS3 rs148199056 9:4117942:G:T 9 4117942 G T 9:4117942 0.997338 12222 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes mellitus, neonatal, with congenital hypothyroidism;not specified Charcot foot 0.000234 1.5922 0.4328 Trigger finger 0.0003023 1.671 0.463 GLIS3 rs6415788 9:4118111:G:T 9 4118111 G T 9:4118111 0.988096 0.664118 162082 81907 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma/COPD (KELA code 203) 3.47e-06 -0.0638 0.0137 Asthma/COPD (KELA code 203) 0.0005098 -0.032 0.009 GLIS3 rs138497710 9:4118287:C:G 9 4118287 C G 9:4118287 0.950841 1356 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Monogenic diabetes Pulmonary eosinophilia, not elsewhere classified 0.000368 4.6176 1.2963 Polycythaemia vera 3.71e-06 119.039 25.727 GLIS3 rs200263979 9:4118361:G:C 9 4118361 G C 9:4118361 0.963434 4140 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism,other/unspecified 0.00114 -0.1867 0.0574 Melanocytic naevi of other and unspecified parts of face 0.001161 9.902 3.048 GLIS3 rs35154632 9:4118540:C:G 9 4118540 C G 9:4118540 0.997837 2783 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monogenic diabetes;not specified Benign neoplasm of eye and adnexa (other cancers excluded from controls) 0.00086 0.9687 0.2906 Nonspesific lymphadenitis 0.0003946 16.086 4.539 GLIS3 rs148572278 9:4118585:G:T 9 4118585 G T 9:4118585 0.991713 0.00159777 0 587 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of brain (other cancers excluded from controls) 6.54e-05 5.2786 1.3221 GLIS3 rs143051164 9:4118634:G:C 9 4118634 G C 9:4118634 0.996194 0.00246606 2 904 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 8.03e-05 6.4158 1.6269 GLIS3 rs113754532 9:4286344:T:C 9 4286344 T C 9:4286344 0.985274 271 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Idiopathic gout 0.000427 5.6226 1.596 JAK2 rs77375493 9:5073770:G:T 9 5073770 G T 9:5073770 0.875366 0.000593378 24 194 missense_variant dominant Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute myeloid leukemia;Acute myeloid leukemia;Budd-Chiari syndrome;Budd-Chiari syndrome;Budd-Chiari syndrome, susceptibility to, somatic;Chronic myelogenous leukemia;Familial erythrocytosis, 1;Familial erythrocytosis, 1;Myelofibrosis;Myelofibrosis;Myeloproliferative disorder;Polycythemia vera;Polycythemia vera;Subacute lymphoid leukemia;Thrombocythemia 3;Thrombocythemia 3 Myeloproliferative diseases 3.52e-124 52.0336 2.1954 Polycythaemia vera 1.286e-24 93.672 9.146 JAK2 rs150221602 9:5081828:G:C 9 5081828 G C 9:5081828 0.969109 374 missense_variant dominant not provided not_provided no assertion provided none Other intracranial haemorrhages 0.000569 7.398 2.1468 JAK2 rs201551707 9:5089776:C:G 9 5089776 C G 9:5089776 0.994018 1796 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of abdomen, lower back and pelvis 0.000109 4.8958 1.2651 Undescended testicle 0.0009315 87.428 26.41 JAK2 rs41316003 9:5126343:G:A 9 5126343 G A 9:5126343 0.985171 0.0122296 72 4421 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hyperkinetic disorders (more controls excluded) 9.96e-05 1.2796 0.3288 Polycythaemia vera 0.0006543 12.72 3.732 JAK2 rs142269166 9:5126715:A:G 9 5126715 A G 9:5126715 0.951666 169 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of other B group vitamins 0.000382 13.5768 3.8219 INSL6 rs138203591 9:5164266:C:T 9 5164266 C T 9:5164266 0.916383 1228 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain in joint 0.000293 0.4969 0.1372 RLN1 rs35426888 9:5335590:T:G 9 5335590 T G 9:5335590 0.948248 1045 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic ileus and intestinal obstruction 0.000329 0.9524 0.2652 ERMP1 rs140094646 9:5811257:T:C 9 5811257 T C 9:5811257 0.996236 0.0199163 146 7171 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lens 2.32e-05 0.1854 0.0438 Radiculopathy 0.001447 2.03 0.637 GLDC rs138640017 9:6533092:C:G 9 6533092 C G 9:6533092 0.998282 0.00936068 10 3429 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Non-ketotic hyperglycinemia Other disorders of adrenal gland 2.9e-05 1.8393 0.4399 Inflammatory diseases of the central nervous system 0.0001011 27.375 7.041 GLDC rs141933811 9:6553445:C:T 9 6553445 C T 9:6553445 0.887099 4385 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-ketotic hyperglycinemia;not provided;not specified Diabethic neuropathy 0.000127 0.7855 0.2049 Chronic pancreatitis 4.895e-05 6.701 1.65 GLDC rs386833549 9:6554703:C:T 9 6554703 C T 9:6554703 0.911831 0.00106699 0 392 missense_variant recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Other and unspecified skin changes due to chronic exposure to nonionizing radiation 9.11e-05 13.3287 3.4062 GLDC rs143119940 9:6554781:C:A 9 6554781 C A 9:6554781 0.986286 0.0307468 424 10872 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-ketotic hyperglycinemia;not provided Postprocedural disorders of digestive system, not elsewhere classified 8.5e-05 1.0129 0.2578 Antepartum haemorrhage, not elsewhere classified 0.0001301 2.868 0.749 GLDC rs147275962 9:6556242:C:T 9 6556242 C T 9:6556242 0.98195 4448 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-ketotic hyperglycinemia;not provided Other shoulder lesions 0.000337 -0.8437 0.2354 Other puerperal infections 0.001625 8.062 2.558 GLDC rs151268759 9:6588403:C:T 9 6588403 C T 9:6588403 0.994079 6495 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Non-ketotic hyperglycinemia;not provided Psoriasis (vulgaris), strict definition 0.000526 1.2801 0.3692 Arthropathies 0.001348 -0.508 0.159 GLDC rs121964974 9:6588417:C:A 9 6588417 C A 9:6588417 0.904237 480 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Disorders of optic nerve and visual pathways 0.001 2.3945 0.7279 GLDC rs138454333 9:6644629:T:C 9 6644629 T C 9:6644629 0.98797 0.00191623 2 702 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter KRA_PSY_EATING (more controls excluded) 3.18e-05 2.9072 0.6988 PTPRD rs151005956 9:8486142:A:G 9 8486142 A G 9:8486142 0.994025 2985 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary parkinsonism (more controls excluded) 0.000236 2.4905 0.6773 2.951e-05 39.203 9.385 TYRP1 rs61758405 9:12694066:G:A 9 12694066 G A 9:12694066 0.984115 235 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Meniere disease 0.00079 3.2179 0.9587 TYRP1 rs146838872 9:12694094:T:C 9 12694094 T C 9:12694094 0.979733 2695 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to certain psychosocial circumstances 0.000183 0.9744 0.2604 Dissocial personality disorder 0.001458 61.315 19.263 TYRP1 rs61752937 9:12694274:G:A 9 12694274 G A 9:12694274 0.953793 3974 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Oculocutaneous albinism;not specified Malignant neoplasm of small intestine 0.00129 1.7397 0.5406 Injury of other and unspecified intrathoracic organs 0.001547 8.565 2.706 MPDZ rs34605667 9:13112025:C:T 9 13112025 C T 9:13112024 0.983443 23659 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Monoplegia 0.000636 -0.8423 0.2466 Oher diseases of blood and blood-forming organs 0.000227 1.386 0.376 MPDZ rs200891478 9:13136784:T:C 9 13136784 T C 9:13136783 0.988775 763 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lichen planus 0.000317 1.7055 0.4736 MPDZ rs199509495 9:13140071:C:T 9 13140071 C T 9:13140070 0.969259 196 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other facial nerve disorders 0.00131 8.8991 2.7698 MPDZ rs188840960 9:13150559:A:C 9 13150559 A C 9:13150558 0.985881 4307 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Cough 0.000282 0.3183 0.0877 Other (seronegative) rheumatoid arthritis, wide 0.0002434 4.324 1.178 MPDZ rs41265286 9:13158063:C:T 9 13158063 C T 9:13158062 0.989243 3513 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD-related co-morbidities 0.000656 -0.1282 0.0376 Chronic kidney disease 0.001028 4.592 1.399 MPDZ rs139791147 9:13176249:T:C 9 13176249 T C 9:13176248 0.919897 156 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of nerves at lower leg level 0.00056 27.6438 8.012 MPDZ rs200553028 9:13183530:G:C 9 13183530 G C 9:13183529 0.953227 217 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected disproportion 0.00111 5.9124 1.8129 MPDZ rs200475640 9:13188954:A:T 9 13188954 A T 9:13188953 0.983644 364 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of synovium and tendon in diseases classified elsewhere 0.000384 8.1895 2.3062 MPDZ rs4740548 9:13190163:T:A 9 13190163 T A 9:13190162 0.970635 0.000860126 2 314 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of nervous system 6.48e-05 5.5095 1.3793 MPDZ rs4741289 9:13190164:C:T 9 13190164 C T 9:13190163 0.976501 0.000928174 2 339 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of nervous system 8.73e-05 5.2066 1.3271 MPDZ rs77838108 9:13190293:C:T 9 13190293 C T 9:13190292 0.89804 0.000495389 0 182 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy, childbirth and the puerperium 9.68e-05 -0.9695 0.2487 MPDZ rs183192494 9:13222398:C:G 9 13222398 C G 9:13222397 0.998462 3797 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified urinary incontinence 0.00126 0.7671 0.2378 Fracture of neck 0.0004461 15.5 4.414 MPDZ rs181479224 9:13223593:G:C 9 13223593 G C 9:13223592 0.918974 183 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspecified diabetes with multiple/unspecified complications 0.000251 9.169 2.5041 MPDZ rs61753782 9:13224442:C:A 9 13224442 C A 9:13224441 0.989755 10075 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypermetropia 0.000447 0.6446 0.1836 Other and unspecified diseases of blood and blood-forming organs 3.788e-06 12.461 2.696 MPDZ rs17273542 9:13224492:G:A 9 13224492 G A 9:13224491 0.878466 239 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of stomach and duodenum 0.000545 5.089 1.4718 FREM1 rs10961689 9:14737508:T:G 9 14737508 T G 9:14737506 0.998983 77031 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified follicular disorders 0.000219 -0.3147 0.0852 Inflammation of lacrimal passages (acute and unspecified) 0.0004006 0.276 0.078 FREM1 rs2101770 9:14775919:T:A 9 14775919 T A 9:14775917 0.977694 221 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified nerve root and plexus disorders, also in other diseases 0.000829 3.1821 0.9519 FREM1 rs10961700 9:14776142:C:T 9 14776142 C T 9:14776140 0.996085 0.20863 15952 60696 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of forearm 6.29e-05 -0.2345 0.0586 Dysplasia of cervi uteri 0.000154 0.167 0.044 FREM1 rs61732355 9:14776180:C:T 9 14776180 C T 9:14776178 0.997058 6431 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Marles Greenberg Persaud syndrome;not specified Vascular diseases of the intestine 0.000791 1.0909 0.3251 0.0004107 2.792 0.79 FREM1 rs41265306 9:14784391:G:A 9 14784391 G A 9:14784389 0.99805 11013 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Marles Greenberg Persaud syndrome Labour and delivery complicated by intrapartum haemorrhage, not elsewhere classified 0.000914 1.286 0.3879 Other and unspecified local infections of skin and subcutaneous tissue 0.001102 2.23 0.683 FREM1 rs75677527 9:14784568:G:C 9 14784568 G C 9:14784566 0.977151 241 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of head 0.00032 1.3663 0.3797 FREM1 rs199806592 9:14792850:G:A 9 14792850 G A 9:14792848 0.997752 779 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hammer toe(s) (acquired) 0.000162 1.3391 0.355 FREM1 rs35870000 9:14801712:C:A 9 14801712 C A 9:14801710 0.993515 79811 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture at wrist and hand level 0.000516 0.0807 0.0232 Emotional disorders starting during childhood or adolecense (more controls excluded) 6.198e-05 0.352 0.088 FREM1 rs16932300 9:14801740:G:C 9 14801740 G C 9:14801738 0.989667 29783 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Marles Greenberg Persaud syndrome Mental retardation 0.000344 0.3959 0.1106 Polycythaemia vera 0.0005077 1.346 0.387 FREM1 rs7041710 9:14816831:G:C 9 14816831 G C 9:14816829 0.986491 31842 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Marles Greenberg Persaud syndrome;not specified Other and unspecified follicular disorders 0.000146 0.5164 0.136 Other disorders of adrenal gland 0.000113 1.28 0.332 FREM1 rs7023244 9:14819372:G:T 9 14819372 G T 9:14819370 0.997425 67124 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of nerves at wrist and hand level 0.000401 0.2865 0.0809 Acute suppurative otitis media 0.0007246 -0.121 0.036 FREM1 rs1353223 9:14842559:T:C 9 14842559 T C 9:14842557 0.988857 17031 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Marles Greenberg Persaud syndrome Conjunctivitis 0.00128 0.1059 0.0329 Congenital malformations of heart and great arteries 0.0001828 1.184 0.316 FREM1 rs41298151 9:14842660:C:G 9 14842660 C G 9:14842658 0.964061 463 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Amyloidosis, other/unspecified 0.000208 9.9049 2.6704 FREM1 rs2779500 9:14846038:C:G 9 14846038 C G 9:14846036 0.987913 0.612704 137552 87548 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gestational [pregnancy-induced] hypertension 1.98e-05 -0.1505 0.0353 Gestational [pregnancy-induced] hypertension 6.073e-05 -0.1 0.025 FREM1 rs199682518 9:14859264:C:T 9 14859264 C T 9:14859262 0.972653 347 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.000228 1.6482 0.4472 PSIP1 rs35678110 9:15466848:G:C 9 15466848 G C 9:15466846 0.975303 111 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other problems related to primary support group, including family circumstances 0.00115 4.3242 1.3298 BNC2 rs35005898 9:16419369:T:C 9 16419369 T C 9:16419367 0.985722 3545 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypotension Injuries to the ankle and foot 0.000166 -0.2926 0.0777 Maternal care for known or suspected malpresentation of fetus 2.932e-06 11.221 2.4 BNC2 rs41268965 9:16419500:T:C 9 16419500 T C 9:16419498 0.990373 1148 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism,other/unspecified 0.000295 0.387 0.1069 BNC2 rs117452684 9:16419521:G:A 9 16419521 G A 9:16419519 0.992315 4284 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypotension;not specified Otitis externa, unspecified 0.000355 0.8187 0.2292 Disorders of refraction and accommodation 0.000189 4.731 1.267 BNC2 rs114596065 9:16436326:G:T 9 16436326 G T 9:16436324 0.944497 296 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypotension;not specified Adrenocortical insufficiency 0.000398 8.3344 2.3532 Psychiatric diseases 5.868e-05 1.893 0.471 BNC2 rs148873573 9:16436954:G:C 9 16436954 G C 9:16436952 0.976304 2286 missense_variant unknown not provided not_provided no assertion provided none Hypotension Other bursal cyst 0.000643 2.9308 0.8588 Pruritus 0.0001378 24.724 6.486 BNC2 rs145011045 9:16727956:C:A 9 16727956 C A 9:16727954 0.994479 0.00671769 22 2446 missense_variant unknown not provided not_provided no assertion provided none Hypotension Pustulosis palmaris et plantaris 9.23e-05 1.9881 0.5085 Coronary artery bypass grafting 6.974e-05 6.3 1.584 ADAMTSL1 rs138492683 9:18777603:G:A 9 18777603 G A 9:18777601 0.955905 471 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Keratitis 0.00134 1.0582 0.33 ADAMTSL1 rs147953826 9:18906749:C:T 9 18906749 C T 9:18906747 0.88903 539 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dystonia 0.000272 3.6478 1.0019 Varicose veins 0.0001562 11.264 2.979 FOCAD rs10511687 9:20764871:T:C 9 20764871 T C 9:20764870 0.999365 0.407604 61236 88513 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pericarditis 8.31e-05 -0.2945 0.0748 0.0001261 0.034 0.009 FOCAD rs151286548 9:20865974:A:G 9 20865974 A G 9:20865973 0.996707 1423 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of Bartholin gland 0.000803 2.7921 0.833 Benign mammary dysplasia 0.0003777 13.615 3.83 FOCAD rs147046649 9:20933031:A:C 9 20933031 A C 9:20933030 0.979031 2099 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (undefined) 0.000285 2.21 0.609 Other endocrine disorders 0.001502 42.857 13.501 FOCAD rs117591845 9:20981543:C:T 9 20981543 C T 9:20981542 0.953896 1396 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral hepatitis 0.000363 1.5693 0.4402 Dislocation, sprain and strain of joints and ligaments of lumbar spine and pelvis 0.00063 122.882 35.948 FOCAD rs4977881 9:20988427:A:G 9 20988427 A G 9:20988426 0.999174 70874 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol related diseases and deaths, all endoints 0.000873 0.0588 0.0177 Injury of eye and orbit 0.0003751 0.086 0.024 FOCAD rs150147497 9:20990165:G:A 9 20990165 G A 9:20990164 0.997682 2335 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other menopausal disorders 0.00113 1.033 0.3173 Other and unspecified mental retardation 3.377e-05 35.856 8.647 IFNA10 rs10113875 9:21207001:C:G 9 21207001 C G 9:21207000 0.998582 59940 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of ovary 0.000378 0.1288 0.0362 Type 2 diabetes with other specified/multiple/unspecified complications 5.823e-05 0.089 0.022 IFNA10 rs10113876 9:21207006:C:G 9 21207006 C G 9:21207005 0.998582 59940 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of ovary 0.000378 0.1288 0.0362 Type 2 diabetes with other specified/multiple/unspecified complications 5.823e-05 0.089 0.022 IFNA16 rs41313958 9:21217160:T:G 9 21217160 T G 9:21217159 0.966108 228 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.00116 4.2864 1.3191 IFNA14 rs28383771 9:21239448:G:A 9 21239448 G A 9:21239447 0.982987 2586 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Habit and impulse disorders 0.000625 2.6094 0.7628 !!!Vapaa-ajan tapaturmat 0.00129 71.713 22.284 IFNA5 rs41298198 9:21304914:G:A 9 21304914 G A 9:21304913 0.998185 7969 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other articular cartilage disorders 0.000184 1.0656 0.2849 Other pleural conditions 0.0004881 5.982 1.715 IFNA1 rs1758567 9:21440536:T:C 9 21440536 T C 9:21440535 0.995378 0.0272518 292 9720 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mesothelioma 2.78e-05 2.1645 0.5165 0.004645 0.281 0.099 IFNA1 rs28383794 9:21440995:C:G 9 21440995 C G 9:21440994 0.995834 22433 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected malpresentation of fetus 0.000291 -0.2376 0.0656 Injury of muscle and tendon at wrist and hand level 0.001921 0.622 0.2 MTAP rs7023954 9:21816759:G:A 9 21816759 G A 9:21816758 0.999954 0.431427 69058 89443 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coronary revascularization (ANGIO or CABG) 2.66e-08 -0.1024 0.0184 Coronary revascularization (ANGIO or CABG) 0.0001984 -0.062 0.017 CDKN2A rs181044510 9:21968733:G:A 9 21968733 G A 9:21968732 0.990765 7815 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanoma-pancreatic cancer syndrome;not specified Phakomatoses, not elsewhere classified 0.000192 1.882 0.5046 Central retinal artery occlusion 0.0008818 11.329 3.406 CDKN2A rs3731249 9:21970917:C:T 9 21970917 C T 9:21970916 0.995503 3320 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary cutaneous melanoma;Melanoma-pancreatic cancer syndrome;not provided;not specified General examination and investigation of persons without complaint and reported diagnosis 0.000224 -0.2566 0.0695 Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.0003613 16.202 4.542 CDKN2B rs148421170 9:22006148:C:T 9 22006148 C T 9:22006147 0.928223 266 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Essential (haemorrhagic) thrombocythaemia 0.000313 8.8327 2.4504 DMRTA1 rs140509678 9:22447072:C:T 9 22447072 C T 9:22447071 0.992526 1311 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parapsoriasis 0.00045 3.6336 1.0356 Arthropathies 0 2.806 0 IFT74 rs62542664 9:26978170:A:T 9 26978170 A T 9:26978168 0.843633 155 missense_variant recessive not provided not_provided no assertion provided none Bronchitis 0.000114 1.1474 0.2974 IFT74 rs138591335 9:27062668:G:A 9 27062668 G A 9:27062666 0.99756 3718 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondyloarthritis 0.000191 -0.5861 0.1571 Motor disorders (more controls excluded) 0.0008647 88.632 26.607 TEK rs35969327 9:27168573:T:C 9 27168573 T C 9:27168571 0.989728 0.00466537 16 1698 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Cutaneous and Mucosal Venous Malformations;not provided Coronary angiopasty 4.5e-05 0.6178 0.1514 Post-traumatic wound infection, not elsewhere classified 2.472e-06 162.095 34.412 TEK rs200857533 9:27190588:A:G 9 27190588 A G 9:27190586 0.937447 336 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Non-rheumatic valve diseases 0.00183 -1.0134 0.3251 TEK rs1334811 9:27190657:G:A 9 27190657 G A 9:27190655 0.998013 7887 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Cutaneous and Mucosal Venous Malformations;not specified Dysplasia of cervi uteri 0.000835 0.2981 0.0892 Convergence insufficiency and excess 0.0002253 21.619 5.861 TEK rs138894008 9:27192564:G:T 9 27192564 G T 9:27192562 0.972512 344 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Evidence of alcohol involvement determined by blood alcohol level 0.00339 11.9141 4.0665 TEK rs35030851 9:27197488:G:T 9 27197488 G T 9:27197486 0.995811 6764 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple Cutaneous and Mucosal Venous Malformations Disorders of ocular muscles, binocular movement, accommodation and refraction 0.00229 0.2123 0.0696 Crohn disease ( strict definition, all UC cases excluded) 0.001384 5.49 1.717 C9orf72 rs17769294 9:27561630:T:C 9 27561630 T C 9:27561628 0.999122 51773 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructed labour due to maternal pelvic abnormality 0.000134 0.203 0.0532 6.984e-05 0.664 0.167 DDX58 rs61752945 9:32481341:C:T 9 32481341 C T 9:32481339 0.902108 714 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Spinal cord 0.000282 6.9316 1.9088 DDX58 rs72710678 9:32500834:C:T 9 32500834 C T 9:32500832 0.981464 1264 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperhidrosis 0.000404 2.8441 0.8039 Polycythaemia vera 0.0006701 94.55 27.796 TOPORS rs41302222 9:32541882:G:C 9 32541882 G C 9:32541880 0.986014 445 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of urethra and urinary system 0.00102 0.6663 0.2028 TOPORS rs181426035 9:32541958:T:C 9 32541958 T C 9:32541956 0.996323 6076 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Dominant Benign neoplasm of other and ill-defined parts of digestive system 0.00119 0.4372 0.1348 Benign neoplasm: Short bones of upper limb 0.0001379 27.386 7.184 TOPORS rs139859703 9:32542000:G:T 9 32542000 G T 9:32541998 0.984865 2041 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Other diseases of pancreas 0.000352 1.6417 0.4594 Benign neoplasm: Skin of scalp and neck 0.002077 45.851 14.892 TOPORS rs17857515 9:32542280:T:C 9 32542280 T C 9:32542278 0.983059 0.034914 432 12395 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant;not specified Trigeminal neuralgia 4.84e-05 0.6799 0.1673 Symptoms and signs involving the nervous and musculoskeletal systems 0.001379 0.64 0.2 TOPORS rs61758062 9:32543287:T:G 9 32543287 T G 9:32543285 0.9972 1014 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of skin of lower limb, including hip 0.000572 5.2755 1.5317 TOPORS rs61758066 9:32550898:G:C 9 32550898 G C 9:32550896 0.982311 7635 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant;not provided;not specified Pterygium 0.000795 1.0508 0.3133 Inguinal hernia 0.0007663 0.758 0.225 TOPORS rs112527210 9:32550914:G:A 9 32550914 G A 9:32550912 0.974327 17501 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant;not specified Benign neoplasm: Rectum, anus and anal canal 0.0013 0.2516 0.0782 Congenital malformations of uterus and cervix 0.0003942 4.035 1.139 APTX rs141493373 9:32973556:T:A 9 32973556 T A 9:32973554 0.831875 133 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other headache syndromes 0.00045 1.868 0.5323 APTX rs141195622 9:32984659:A:T 9 32984659 A T 9:32984657 0.86787 188 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Endocarditis 0.000928 10.0204 3.0259 APTX rs34778324 9:32987596:G:T 9 32987596 G T 9:32987594 0.995931 1157 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperparathyroidism 0.000674 0.9395 0.2763 APTX rs150506419 9:32987844:T:C 9 32987844 T C 9:32987842 0.933205 0.00204144 0 750 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of ankle and foot 6.71e-05 8.8525 2.2207 APTX rs144076460 9:32989874:C:A 9 32989874 C A 9:32989872 0.995971 401 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Ataxia with Oculomotor Apraxia;Coenzyme Q10 deficiency, Oculomotor Apraxia Type;not provided Melanocytic naevi of lip 0.00068 11.9552 3.5189 Other and unspecified degenerative diseases of nervous system 0.0008527 96.161 28.833 AQP7 rs62542743 9:33385243:C:A 9 33385243 C A 9:33385241 0.971704 16882 missense_variant recessive Affects association no assertion criteria provided no_Criteria Glycerol release during exercise, defective Congenital obstructive defects of renal pelvis and congenital malformations of ureter 0.000943 0.8654 0.2617 Other bursitis of hip 0.0004976 3.8 1.091 DNAI1 rs11547035 9:34459027:G:T 9 34459027 G T 9:34459025 0.999136 35784 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Phlebitis and thrombophlebitis (not including DVT) 0.000109 0.1792 0.0463 Blepharochalasis 8.475e-05 0.331 0.084 DNAI1 rs11793196 9:34500823:G:A 9 34500823 G A 9:34500821 0.997238 48383 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of cervix uteri (other cancers excluded from controls) 0.000868 -0.1823 0.0547 Deficiency of other B group vitamins 0.0005955 0.802 0.233 DNAI1 rs141089746 9:34506740:G:A 9 34506740 G A 9:34506738 0.975892 343 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emotional disorders starting during childhood or adolecense (more controls excluded) 0.000113 5.6301 1.4585 DNAI1 rs11999454 9:34512395:T:G 9 34512395 T G 9:34512393 0.999542 4084 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;Kartagener syndrome;not specified Abnormal findings on diagnostic imaging of breast 0.000146 2.9968 0.789 Mixed disorders of conduct and emotions 7.675e-05 28.202 7.132 DNAI1 rs76334696 9:34514428:C:A 9 34514428 C A 9:34514426 0.998839 0.0399741 598 14088 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Injury of other and unspecified intrathoracic organs 4.04e-05 0.6305 0.1536 Volume depletion 0.0005591 2.081 0.603 SIGMAR1 rs11559048 9:34635682:G:A 9 34635682 G A 9:34635679 0.995218 564 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amyotrophic lateral sclerosis 16, juvenile;Distal spinal muscular atrophy, autosomal recessive 2 Other/unspecified dorsalgia 0.000282 0.9347 0.2574 Femoral hernia 0.003533 28.097 9.632 SIGMAR1 rs1800866 9:34637693:T:G 9 34637693 T G 9:34637690 0.992225 42065 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Testicular dysfunction 0.000465 0.5254 0.1501 Presbycusis 0.0008336 0.377 0.113 GALT rs762136953 9:34647487:G:A 9 34647487 G A 9:34647484 0.974633 0.00159232 4 581 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyroiditis 9.75e-05 3.1817 0.8165 GALT rs2070074 9:34649445:A:G 9 34649445 A G 9:34649442 0.999626 36236 missense_variant recessive Conflicting interpretations of pathogenicity, other Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Abnormal blood-pressure reading, without diagnosis 0.000332 -0.4562 0.1271 Procedures for purposes other than remedying health state 0.0002036 1.167 0.314 IL11RA rs200580340 9:34657046:C:T 9 34657046 C T 9:34657043 0.993157 1112 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other disorders of conjunctiva 0.00083 1.2453 0.3726 Malignant neoplasm of stomach 0.001554 53.122 16.787 IL11RA rs750878767 9:34657069:A:G 9 34657069 A G 9:34657066 0.982895 406 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fibromyalgia 0.00282 3.5755 1.1973 FAM205A rs472644 9:34724062:G:A 9 34724062 G A 9:34724059 0.997802 91327 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other sleepdisorders 0.000487 -0.1439 0.0412 Type 1 diabetes, wide definition, subgroup 2 0.0001939 -0.312 0.084 FAM205A rs62547039 9:34725745:T:C 9 34725745 T C 9:34725742 0.998222 75202 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of colon, rectum, anus and anal canal (other cancers excluded from controls) 0.00102 -0.0654 0.0199 Transient global amnesia 0.0007734 0.109 0.033 FAM205A rs142053044 9:34729341:C:A 9 34729341 C A 9:34729338 0.99847 5660 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impotence 0.000423 1.0127 0.2873 Other congenital malformations of face and neck 0.0003368 17.77 4.957 FANCG rs17885240 9:35075025:C:T 9 35075025 C T 9:35075022 0.999363 7401 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Dominant;Fanconi anemia;Inclusion Body Myopathy, Dominant;not specified Primary coxarthrosis, bilateral 0.000249 0.343 0.0936 Episodal and paroxysmal disorders 0.0003377 0.49 0.137 FANCG rs201884798 9:35075306:G:A 9 35075306 G A 9:35075303 0.976523 285 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypertension complicating pregnancy, childbirth, and the puerperium 0.0024 1.0079 0.3321 PIGO rs748093757 9:35091690:G:A 9 35091690 G A 9:35091687 0.819765 498 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Systemic connective tissue disorders 0.000241 1.1822 0.322 PIGO rs138028827 9:35094245:T:C 9 35094245 T C 9:35094242 0.898691 178 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital malformations of aortic and mitral valves 0.000156 11.7899 3.1183 PIGO rs142562923 9:35095105:G:T 9 35095105 G T 9:35095102 0.993661 3376 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperphosphatasia with mental retardation syndrome 2;Hyperphosphatasia-intellectual disability syndrome;not provided;not specified Hemiplegia 0.000558 1.0652 0.3086 Type 2 diabetes with ketoacidosis 0.0002787 19.327 5.318 UNC13B rs41276043 9:35397169:C:G 9 35397169 C G 9:35397166 0.993011 1396 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary uncertain malignant neoplasm 0.000108 1.3934 0.3599 Benign neoplasm: Oesophagus (other cancers excluded from controls) 0.0009883 84.746 25.729 RUSC2 rs41277053 9:35555461:G:A 9 35555461 G A 9:35555458 0.98362 5349 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Choroid (other cancers excluded from controls) 0.00135 1.0097 0.315 Other and unspecified types of non-Hodgkin lymphoma 0.0009334 10.86 3.281 GBA2 rs113785628 9:35740905:C:T 9 35740905 C T 9:35740902 0.997101 0.0104603 66 3777 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;not specified Complications following abortion and ectopic and molar pregnancy 6.11e-05 3.1003 0.7734 Persons with potential health hazards related to family and personal history and certain conditions influencing health status 0.0004497 1.141 0.325 GBA2 rs371758545 9:35740910:C:T 9 35740910 C T 9:35740907 0.967222 197 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Siatica+with lumbago 0.000143 1.6742 0.4403 SPAG8 rs61758536 9:35810248:G:A 9 35810248 G A 9:35810245 0.997252 11393 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders starting during childhood or adolecense (more controls excluded) 0.0014 0.6261 0.196 Post-traumatic wound infection, not elsewhere classified 0.000481 6.34 1.816 SPAG8 rs142260176 9:35811718:T:C 9 35811718 T C 9:35811715 0.999117 7548 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders starting during childhood or adolecense (more controls excluded) 0.00263 0.7164 0.2382 Seronegative rheumatoid arthritis 0.0002528 3.132 0.856 CCIN rs45579743 9:36170955:C:T 9 36170955 C T 9:36170952 0.913745 117 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peripheral retinal degeneration 0.000794 13.8903 4.1402 MELK rs114617403 9:36583645:A:G 9 36583645 A G 9:36583642 0.997527 3607 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other assisted single delivery 0.000952 2.3904 0.7234 Hyperkalaemia 0.0003414 17.14 4.785 PAX5 rs3780135 9:36840626:G:A 9 36840626 G A 9:36840623 0.995155 18363 missense_variant unknown not provided not_provided no assertion provided none Congenital malformations of breast 0.000105 -1.1366 0.293 Congenital malformations of breast 0.0002069 -0.556 0.15 PAX5 rs35469494 9:36846913:C:T 9 36846913 C T 9:36846910 0.992013 9560 missense_variant unknown not provided not_provided no assertion provided none not specified Congenital malformations of breast 0.000674 1.3982 0.4112 Vascular diseases of the intestine 0.000581 5.852 1.701 PAX5 rs34810717 9:36882052:C:T 9 36882052 C T 9:36882049 0.960211 2040 missense_variant unknown not provided not_provided no assertion provided none not specified Benign neoplasm of other and unspecified endocrine glands 0.000134 1.1581 0.3033 0.000604 15.443 4.503 GRHPR rs200106110 9:37429750:G:A 9 37429750 G A 9:37429747 0.991352 2447 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary hyperoxaluria Superficial injury of ankle and foot 0.000128 1.1222 0.293 Pterygium 0.00136 64.24 20.057 TRMT10B rs199618338 9:37777622:A:T 9 37777622 A T 9:37777619 0.982793 2651 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enterocolitis due to Clostridium difficile 0.00054 0.9544 0.2759 Non-rheumatic valve diseases 4.007e-05 10.552 2.569 TRMT10B rs200754365 9:37777623:C:A 9 37777623 C A 9:37777620 0.994447 2729 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of pancreas 0.000231 1.4321 0.3889 Non-rheumatic valve diseases 4.007e-05 10.552 2.569 EXOSC3 rs3208406 9:37780834:A:G 9 37780834 A G 9:37780831 0.998201 30001 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pontoneocerebellar hypoplasia;not specified Tinnitus 0.000587 0.167 0.0486 Congenital malformations of genital organs 0.001522 0.591 0.186 EXOSC3 rs62640002 9:37784852:C:T 9 37784852 C T 9:37784849 0.894632 0.000400122 0 147 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other follicular disorders 5.07e-06 11.1515 2.4446 ALDH1B1 rs2228093 9:38396005:C:T 9 38396005 C T 9:38396002 0.99386 53673 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 0.000154 -0.2623 0.0693 COPD related to chronic (opportunist) infections 0.0007512 0.874 0.259 ALDH1B1 rs2073478 9:38396068:G:T 9 38396068 G T 9:38396065 0.998006 91521 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Focal brain injury 0.000621 -0.1736 0.0507 Other specified/unspecified dorsopathies 0.001767 0.174 0.056 ALDH1B1 rs4878199 9:38396505:G:A 9 38396505 G A 9:38396502 0.997164 20518 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathies, Primary/intrinsic 0.000338 0.2762 0.0771 Other disorders of choroid 0.0004602 -0.478 0.137 ALDH1B1 rs201408956 9:38396908:GC:G 9 38396908 GC G 9:38396905 0.963576 0.000895511 0 329 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bacterial diseases 8.78e-06 1.0052 0.2261 ALDH1B1 rs61741825 9:38397157:T:C 9 38397157 T C 9:38397154 0.959237 1648 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Migraine with aura 0.00017 0.8291 0.2205 Acute appendicitis 0.0003409 3.504 0.978 ANKRD18A rs41305300 9:38577242:T:C 9 38577242 T C 9:38577239 0.914515 0.058709 1334 20235 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 6.57e-05 0.2135 0.0535 Other/unspecified cytomegaloviral diseases 0.0003527 4.075 1.14 TJP2 rs4493966 9:69205232:G:A 9 69205232 G A 9:71820148 0.988821 10261 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Volume depletion 0.000779 0.5323 0.1584 Smoking 0.0009276 2.297 0.694 AL358113.1 rs138241615 9:69216409:C:T 9 69216409 C T 9:71831325 0.929781 194 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Toxic effect of contact with venomous animals 0.000257 8.971 2.4541 AL358113.1 rs41305539 9:69220926:C:A 9 69220926 C A 9:71835842 0.993671 12468 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;not specified Malignant neoplasm of colon 0.000248 0.3747 0.1023 Other soft tissue disorders, not elsewhere classified 0.0008612 0.446 0.134 AL358113.1 rs77321498 9:69226056:C:T 9 69226056 C T 9:71840972 0.945191 579 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inguinal hernia 0.00216 0.5765 0.1879 AL358113.1 rs2309428 9:69228107:C:A 9 69228107 C A 9:71843023 0.977326 42237 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bulimia nervosa (incl. atypical) 0.000551 -0.369 0.1068 Superficial injury of forearm 0.001216 -0.127 0.039 AL358113.1 rs41277901 9:69229208:G:A 9 69229208 G A 9:71844124 0.993748 0.000753971 0 277 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Use of antiglaucoma preparations and miotics 8.17e-06 5.1195 1.1477 AL358113.1 rs34774441 9:69236961:G:A 9 69236961 G A 9:71851877 0.997118 0.0463815 840 16200 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;not specified Kyphosis 6.32e-05 1.4975 0.3743 Alcohol use disorder, Swedish definition 0.001823 0.394 0.126 AL358113.1 rs77236826 9:69248319:A:G 9 69248319 A G 9:71863235 0.997921 31120 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Visual field defects 0.00125 -0.2673 0.0828 Other and unspecified vasculitis limited to skin 0.0001536 1.912 0.505 TJP2 rs41277907 9:69251072:C:T 9 69251072 C T 9:71865988 0.990893 23920 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;not specified Abnormal findings on examination of urine, without diagnosis 0.00066 -0.4514 0.1325 Open wound of lower leg 8.24e-05 0.836 0.212 TJP2 rs3812536 9:69254557:G:A 9 69254557 G A 9:71869473 0.985023 90287 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinal instabilities 0.000135 0.2934 0.0769 Spinal instabilities 0.0005702 0.2 0.058 FAM189A2 rs35386391 9:69384020:C:T 9 69384020 C T 9:71998936 0.998518 815 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings in nipple discharge synovial fluid wound secretions 0.000386 8.2034 2.3113 TMEM2 rs146439095 9:71745561:T:A 9 71745561 T A 9:74360477 0.960239 2219 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Dislocation, sprain and strain of joint and ligaments of hip 0.000618 2.0945 0.6118 Other and unspecified paralytic syndromes 0.0005901 101.829 29.635 TMC1 rs11143384 9:72740177:C:T 9 72740177 C T 9:75355093 0.988922 1097 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sacroiliitis, not elsewhere classified 0.000577 2.6277 0.7634 TMC1 rs17058153 9:72792243:T:C 9 72792243 T C 9:75407159 0.999232 8325 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;not specified Non-allergic asthma (mode) (more controls excluded) 0.000114 0.3504 0.0908 Achalasia of cardia 0.001331 9.506 2.962 TMC1 rs200171616 9:72792320:C:T 9 72792320 C T 9:75407236 0.992947 0.00397672 8 1453 pLoF both Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter not provided Autism spe 5.02e-05 4.6071 1.1363 Other specified/unspecified hearing loss 5.468e-08 305.227 56.156 TRPM6 rs56290308 9:74742590:G:A 9 74742590 G A 9:77357506 0.992606 548 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Status post-ami 0.000225 2.4613 0.6672 TRPM6 rs55679040 9:74752287:T:C 9 74752287 T C 9:77367203 0.9518 1461 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Acquired absence of organs, not elsewhere classified 0.000656 5.1708 1.5176 Acquired absence of organs, not elsewhere classified 0.0004089 172.728 48.872 TRPM6 rs2274924 9:74761731:T:C 9 74761731 T C 9:77376647 0.994352 42956 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fourth [trochlear] nerve palsy 0.00107 0.4874 0.149 Abnormalities of breathing 0.0006761 0.103 0.03 TRPM6 rs3750425 9:74762494:C:T 9 74762494 C T 9:77377410 0.993839 23505 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypomagnesemia 1, intestinal Cough 0.00229 0.1144 0.0375 Macular pucker 0.0006841 0.894 0.263 TRPM6 rs143164660 9:74796813:C:G 9 74796813 C G 9:77411729 0.98623 633 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cystic kidney disease 0.00143 3.3326 1.0453 TRPM6 rs56155062 9:74820424:C:A 9 74820424 C A 9:77435340 0.994447 1622 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fitting and adjustment of other devices 0.000236 0.6823 0.1855 TRPM6 rs150874152 9:74840057:C:T 9 74840057 C T 9:77454973 0.998933 1370 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adult-onset Still disease 0.000972 0.8169 0.2477 0.0008067 100.95 30.13 PCSK5 rs61744763 9:76328030:C:T 9 76328030 C T 9:78942946 0.905104 108 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified injuries of wrist and hand 0.00024 15.5048 4.2216 PRUNE2 rs114221706 9:76706075:C:T 9 76706075 C T 9:79320991 0.990543 6301 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Giant cell arteritis 0.00022 1.2432 0.3364 Acute peritonitis 0.000339 6.999 1.953 PRUNE2 rs200041998 9:76706437:C:T 9 76706437 C T 9:79321353 0.959086 1811 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Occupational exposure to risk-factors 0.000208 2.6769 0.7217 Other lack of coordination 0.0003582 176.029 49.32 VPS13A rs41307461 9:77219974:A:G 9 77219974 A G 9:79834890 0.960929 616 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myositis 0.000101 6.1466 1.581 VPS13A rs148656796 9:77282239:A:G 9 77282239 A G 9:79897155 0.993051 10710 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Choreoacanthocytosis Genitourinary diseases 0.000351 0.0754 0.0211 Disturbances of skin sensation 4.026e-06 1.753 0.38 VPS13A rs144358567 9:77293357:G:A 9 77293357 G A 9:79908273 0.920896 85 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of the digestive system 0.000107 3.032 0.7824 VPS13A rs76077278 9:77315309:G:A 9 77315309 G A 9:79930225 0.994862 0.00624952 36 2260 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Choreoacanthocytosis Congenital malformations of great arteries 1.36e-05 3.406 0.7829 Symptoms and signs involving emotional state 7.032e-05 35.848 9.018 VPS13A rs149840356 9:77316303:A:G 9 77316303 A G 9:79931219 0.991349 719 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Choreoacanthocytosis;not provided Other and unspecified types of non-Hodgkin lymphoma (other cancers excluded from controls) 0.000155 3.8234 1.0107 Single delivery by caesarean section 0.000193 4.845 1.3 VPS13A rs149694033 9:77323120:C:T 9 77323120 C T 9:79938036 0.953704 1127 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Choreoacanthocytosis;not provided;not specified Invasive ventilation 0.000543 2.6092 0.7544 Chondromalacia 0.0018 44.98 14.41 VPS13A rs41289969 9:77323153:G:A 9 77323153 G A 9:79938069 0.996259 0.00635568 20 2315 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral palsy and other paralytic syndromes 9.07e-05 1.0406 0.2659 Dyspnoea 0.0005518 3.099 0.897 VPS13A rs12348097 9:77337552:A:T 9 77337552 A T 9:79952468 0.997158 38256 stop_lost recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Granuloma annulare 0.00137 0.5894 0.1841 0.0006778 0.574 0.169 VPS13A rs141138349 9:77353446:T:C 9 77353446 T C 9:79968362 0.919546 97 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Separation of retinal layers (serosa) 0.000168 17.6417 4.688 VPS13A rs117983287 9:77405958:C:A 9 77405958 C A 9:80020874 0.998336 0.00435779 12 1589 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Choreoacanthocytosis Personality disorders 6.24e-05 0.7394 0.1847 Chronic lymphocytic leukaemia 0.0007282 109.095 32.289 CEP78 rs72743760 9:78248296:T:C 9 78248296 T C 9:80863212 0.997828 548 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lupus erythematosus 0.000578 5.4866 1.5941 0 4.522 0 CEP78 rs61730342 9:78265526:C:A 9 78265526 C A 9:80880442 0.971692 1439 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes with peripheral circulatory complications 0.000812 1.4717 0.4395 UBQLN1 rs146724128 9:83677768:C:A 9 83677768 C A 9:86292683 0.955635 1332 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other sleepdisorders 0.00137 1.2115 0.3784 Salphingitis and oophoritis 0.0001821 29.999 8.015 KIF27 rs58077086 9:83850216:T:C 9 83850216 T C 9:86465131 0.997506 61578 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified inflammatory spondylopathies 0.000259 0.2914 0.0798 Other specified/unspecified inflammatory spondylopathies 8.781e-05 0.458 0.117 KIF27 rs55654273 9:83859200:T:C 9 83859200 T C 9:86474115 0.997127 50140 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Small cell lung cancer (other cancers excluded from controls) 0.000544 0.5446 0.1575 Pneumococcal septichemia 1.112e-05 0.897 0.204 KIF27 rs13289566 9:83889090:C:T 9 83889090 C T 9:86504005 0.998906 61334 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Low back pain 0.000431 0.0657 0.0187 Other benign neoplasms of uterus (other cancers excluded from controls) 0.0001891 0.341 0.091 KIF27 rs12001918 9:83903881:T:C 9 83903881 T C 9:86518796 0.997022 50150 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Small cell lung cancer (other cancers excluded from controls) 0.000543 0.5447 0.1575 Pneumococcal septichemia 1.113e-05 0.897 0.204 DAPK1 rs55994363 9:87668645:G:T 9 87668645 G T 9:90283560 0.993073 654 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of cervix uteri 0.000847 2.4293 0.728 Retinoschisis and retinal cysts 0.0004989 148.344 42.611 DAPK1 rs56169226 9:87706887:G:T 9 87706887 G T 9:90321802 0.946138 2126 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothermia 0.00141 2.8574 0.8949 Benign neoplasm: Peripheral nerves and autonomic nervous system 0.001645 52.153 16.568 SHC3 rs149700558 9:89038160:C:T 9 89038160 C T 9:91653075 0.956921 1215 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy 0.000745 0.6405 0.1899 Lactose intolerance 0.001559 56.537 17.872 SECISBP2 rs62638733 9:89341432:A:G 9 89341432 A G 9:91956347 0.986155 7862 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Social disorders starting during childhood or adolecense 0.000462 1.8937 0.5408 Unspecified diabetes with multiple/unspecified complications 8.932e-05 10.769 2.749 ROR2 rs41277835 9:91723689:G:C 9 91723689 G C 9:94485971 0.987445 1206 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Brachydactyly;Robinow syndrome;Robinow syndrome, autosomal recessive;not provided;not specified Malignant neoplasm of meninges 0.00187 1.8802 0.6046 Vascular dementia (subcortical) 0.000365 216.057 60.618 ROR2 rs10761129 9:91724039:C:T 9 91724039 C T 9:94486321 0.996403 72655 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter COPD, hospital admissions 0.000952 0.0802 0.0243 Otosclerosis 0.0003081 0.114 0.032 ROR2 rs141235720 9:91724099:G:A 9 91724099 G A 9:94486381 0.971151 0.000816575 2 298 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other anxiety disorders 7.04e-05 1.4492 0.3646 ROR2 rs34491822 9:91724209:G:A 9 91724209 G A 9:94486491 0.99513 2976 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Brachydactyly;Brachydactyly, type B1Robinow syndrome, autosomal recessive;Robinow syndrome;not provided Cerebral aneurysm, nonruptured 0.000788 1.086 0.3235 Panniculitis affecting regions of neck and back 0.0003108 16.92 4.692 ROR2 rs56099091 9:91724824:G:A 9 91724824 G A 9:94487106 0.966625 470 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Coagulation defects, purpura and other haemorrhagic conditions 0.00112 1.6127 0.495 ROR2 rs35852786 9:91724905:C:T 9 91724905 C T 9:94487187 0.942331 303 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ankylosing hyperostosis [Forestier] 0.000394 13.373 3.7732 ROR2 rs10820900 9:91733326:T:C 9 91733326 T C 9:94495608 0.998399 0.621686 141970 86430 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute upper respiratory infections 3.42e-05 -0.04 0.0097 0.0004639 -0.068 0.019 SPTLC1 rs45461899 9:92068074:C:A 9 92068074 C A 9:94830356 0.985726 7812 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neuropathy hereditary sensory and autonomic type 1 Procedures for purposes other than remedying health state 0.000789 1.0104 0.301 Schizotypal disorder 0.0005569 14.025 4.063 SPTLC1 rs201211989 9:92115319:A:G 9 92115319 A G 9:94877601 0.962718 1281 missense_variant dominant Uncertain significance VUS no assertion criteria provided no_Criteria Postmenopausal atrophic vaginitsi 0.000446 2.4686 0.7031 Vascular dementia (undefined) 0.001033 65.185 19.865 IARS rs144102700 9:92210869:C:T 9 92210869 C T 9:94973151 0.979594 2038 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Allergic urticaria 0.000654 1.1527 0.3382 Cardiac arrest 0.0002122 288.69 77.939 IARS rs34737051 9:92242195:C:T 9 92242195 C T 9:95004477 0.96515 1092 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Diseases of the eye and adnexa 0.00171 -0.2171 0.0692 Giant cell arteritis 0.0007301 147.159 43.564 IARS rs2070053 9:92256766:G:A 9 92256766 G A 9:95019048 0.96524 0.001018 0 374 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma mixed form (mode) 6.39e-05 5.3697 1.3431 IARS rs140666586 9:92274512:T:A 9 92274512 T A 9:95036794 0.96352 0.000402844 0 148 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Routine general health check-up of defined subpopulation 3.24e-05 13.9659 3.3603 BICD2 rs201997144 9:92719297:G:A 9 92719297 G A 9:95481579 0.982465 1177 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Childhood asthma (age<16) 0.000379 1.002 0.2819 Other articular cartilage disorders 0.001066 78.843 24.094 BICD2 rs144427583 9:92719466:A:T 9 92719466 A T 9:95481748 0.919354 139 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of hip and thigh 0.000894 3.7112 1.1172 BICD2 rs61754130 9:92729208:T:C 9 92729208 T C 9:95491490 0.982203 3234 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary spastic paraplegia;Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant;not provided;not specified Kela-cod for severe mental illness 0.000455 -0.4782 0.1364 Deviated nasal septum 0.0005916 4.911 1.429 WNK2 rs35032940 9:93293010:C:T 9 93293010 C T 9:96055292 0.969898 1188 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed hyperlipidaemia 0.000133 2.8036 0.7338 Cardiovascular diseases 0.0004113 -1.67 0.473 FBP1 rs1769259 9:94606867:C:T 9 94606867 C T 9:97369149 0.998697 0.945736 328624 18828 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melanocytic naevi 4.56e-05 0.2347 0.0576 Melanocytic naevi 2.844e-05 0.126 0.03 FANCC rs1800366 9:95125148:T:C 9 95125148 T C 9:97887430 0.992578 300 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Thyroiditis, unspecified 0.000877 10.686 3.2115 FANCC rs140781259 9:95149977:G:C 9 95149977 G C 9:97912259 0.990657 2615 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fanconi anemia;Fanconi anemia, complementation group C;Hereditary cancer-predisposing syndrome;not specified Single delivery by caesarean section 0.000308 -0.5225 0.1448 DVT of lower extremities 0.0002707 6.323 1.736 FANCC rs1800365 9:95150025:T:A 9 95150025 T A 9:97912307 0.976756 160 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of cornea 0.00242 4.7428 1.5633 FANCC rs1800361 9:95249215:G:A 9 95249215 G A 9:98011497 0.994655 2072 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;Hereditary cancer-predisposing syndrome;not provided;not specified Other specified disorders of external ear 0.00211 1.6834 0.5476 Diabetes insipidus 0.0009599 89.181 27.008 FANCC rs143152201 9:95249263:C:T 9 95249263 C T 9:98011545 0.952444 180 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peptic ulcer 0.00118 19.414 5.9854 PTCH1 rs140417636 9:95447208:G:A 9 95447208 G A 9:98209490 0.988792 844 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary angle-closure glaucoma 0.000286 2.9841 0.8226 PTCH1 rs556901417 9:95447223:G:A 9 95447223 G A 9:98209505 0.942782 128 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Meniere disease 0.000632 5.1074 1.4945 PTCH1 rs357564 9:95447312:G:A 9 95447312 G A 9:98209594 0.99666 0.410239 61846 88871 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leiomyoma of uterus 6.83e-05 0.0568 0.0143 Leiomyoma of uterus 3.385e-05 0.055 0.013 PTCH1 rs182045135 9:95449181:A:G 9 95449181 A G 9:98211463 0.996087 5767 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly sequence;not specified Hypertrophy of breast 0.000512 0.4752 0.1368 Other abnormal uterine and caginal bleeding 0.00165 1.469 0.467 PTCH1 rs2236405 9:95449290:T:A 9 95449290 T A 9:98211572 0.976936 0.00798611 24 2910 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly sequence;not provided;not specified Pain in throat and chest 1.51e-05 0.2893 0.0669 Fracture of rib(s), sternum and thoracic spine 0.001085 5.275 1.614 PTCH1 rs147025073 9:95453551:C:T 9 95453551 C T 9:98215833 0.950389 406 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinal breaks without detachment 0.000434 2.1575 0.6132 PTCH1 rs143494325 9:95508249:C:A 9 95508249 C A 9:98270531 0.893845 141 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other peripheral vertigo 0.00206 4.204 1.3645 PTCH1 rs199976372 9:95508253:C:G 9 95508253 C G 9:98270535 0.992215 1057 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gorlin syndrome;Hereditary cancer-predisposing syndrome;Holoprosencephaly sequence Pain in throat and chest 0.000152 0.4108 0.1085 Benign neoplasm: Other and unspecified parts of small intestine 0.0009673 83.953 25.441 ERCC6L2 rs78293324 9:95876031:C:G 9 95876031 C G 9:98638313 0.99685 5917 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute posthaemorrhagic anaemia 0.000188 1.2298 0.3293 Hyphaema and other vascular disorders of iris and ciliary body 0.0002179 21.962 5.94 HSD17B3 rs2066479 9:96235528:C:T 9 96235528 C T 9:98997810 0.99589 13800 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency;not specified Other eating disorders 0.00076 0.5002 0.1485 Persons encountering health services for specific procedures and health care 0.001897 -0.302 0.097 TDRD7 rs2045732 9:97432124:T:C 9 97432124 T C 9:100194406 0.999155 91405 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the wrist and hand 0.000201 -0.0449 0.0121 Injuries to the wrist and hand 0.0007156 -0.034 0.01 TDRD7 rs140697341 9:97482924:C:T 9 97482924 C T 9:100245206 0.967254 336 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dyshidrosis [pompholyx] 0.00047 12.9317 3.6976 TDRD7 rs149536158 9:97483101:A:G 9 97483101 A G 9:100245383 0.960738 165 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Abnormalities of heart beat 0.000729 2.1622 0.64 XPA rs144725456 9:97675530:T:C 9 97675530 T C 9:100437812 0.957116 0.000571603 0 210 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 1.53e-07 2.0392 0.3885 XPA rs104894132 9:97675579:G:A 9 97675579 G A 9:100437861 0.992244 0.00234902 0 863 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) 8e-11 1.2382 0.1905 FOXE1 rs538912281 9:97854657:C:G 9 97854657 C G 9:100616939 0.962644 0.00139362 4 508 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Thyroid cancer, nonmedullary, 4 Benign neoplasm: Cranial nerves (other cancers excluded from controls) 4.94e-05 7.0229 1.7304 Hernia of abodminal wall 0 13.893 0 TBC1D2 rs34769888 9:98199422:C:T 9 98199422 C T 9:100961704 0.978718 2556 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter !Aliquae complicationes praecoces traumatis 0.000871 1.6065 0.4826 Infections of genitourinary tract in pregnancy 0.0001829 18.8 5.025 TBC1D2 rs137868712 9:98200284:G:A 9 98200284 G A 9:100962566 0.989292 882 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of neck 0.000671 5.1422 1.5119 Fracture of forearm 0.000113 6.588 1.706 ANKS6 rs200644058 9:98736571:A:G 9 98736571 A G 9:101498853 0.9947 377 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contusion of ankle 0.00171 5.3122 1.694 ANKS6 rs6415847 9:98770938:C:T 9 98770938 C T 9:101533220 0.992947 3199 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic urticaria 0.000428 -2.4919 0.7075 Unspesified kidney failure 0.0003681 -0.549 0.154 ANKS6 rs148071928 9:98778228:T:C 9 98778228 T C 9:101540510 0.990744 2067 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nephronophthisis 16 Acute sinusitis 0.00131 -0.3409 0.1061 Benign neoplasm: Adrenal gland (other cancers excluded from controls) 0.001087 74.865 22.916 GALNT12 rs1137654 9:98808054:A:T 9 98808054 A T 9:101570336 0.975856 37968 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary parkinsonism (more controls excluded) 0.000923 0.5105 0.1541 0.0006546 0.373 0.109 GALNT12 rs41306504 9:98831821:G:A 9 98831821 G A 9:101594103 0.966649 8072 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;not specified Other abnormal findings in urine 0.00059 1.6262 0.4732 Hypothermia 0.002181 7.396 2.414 GALNT12 rs145236923 9:98831947:G:A 9 98831947 G A 9:101594229 0.988973 461 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormal results of function studies 0.00122 2.9393 0.9089 TGFBR1 rs56014374 9:99132622:G:A 9 99132622 G A 9:101894904 0.987777 513 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coronary angiopasty 0.00171 0.849 0.2707 ALG2 rs35626507 9:99218085:A:G 9 99218085 A G 9:101980367 0.995256 19478 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation;not specified Other heart diseases 0.000635 -0.0615 0.018 Spondylopathies (FG) 0.0002973 0.851 0.235 ALG2 rs11545137 9:99221864:A:G 9 99221864 A G 9:101984146 0.995859 19450 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation;not specified Other heart diseases 0.000718 -0.0608 0.018 Spondylopathies (FG) 0.0003105 0.845 0.234 ALG2 rs180849348 9:99221878:C:G 9 99221878 C G 9:101984160 0.971653 5518 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1I;Myasthenic syndrome, congenital, 14;not provided;not specified Disorders of refraction and accommodation 0.000905 0.3874 0.1167 Toxic effect of contact with venomous animals 0.0009429 10.845 3.279 INVS rs2491097 9:100240169:C:T 9 100240169 C T 9:103002451 0.988523 0.0115328 44 4193 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;not specified Secondary uncertain malignant neoplasm (other cancers excluded from controls) 8.56e-05 0.7697 0.1959 Malignant neoplasm of pancreas 0.0009747 10.518 3.189 INVS rs41312220 9:100240184:A:G 9 100240184 A G 9:103002466 0.998797 3630 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nephronophthisis;not specified Vasomotor and allergic rhinitis 0.00065 -0.3397 0.0996 Other acute skin changes due to ultraviolet radiation 0.0002745 18.836 5.177 INVS rs147452898 9:100284483:G:C 9 100284483 G C 9:103046765 0.996504 5806 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;not specified Tibial collateral bursitis [Pellegrini-Stieda] 0.00017 2.3887 0.6354 Presbyopia 0.000922 11.137 3.361 INVS rs76868679 9:100292659:G:A 9 100292659 G A 9:103054941 0.99776 0.0230982 222 8264 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;not specified Statin medication 1.04e-05 -0.143 0.0324 Complications of other internal prosthetic devices, implants and grafts 6.991e-05 11.904 2.994 INVS rs139768159 9:100296933:C:T 9 100296933 C T 9:103059215 0.999602 749 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;not specified Salphingitis and oophoritis 0.000258 1.2101 0.3312 Other congenital malformations of peripheral vascular system 0.0001925 347.34 93.154 MURC rs1484836435 9:100586047:AGAGAGAGGCTAAGGCAGTCAG:A 9 100586047 AGAGAGAGGCTAAGGCAGTCAG A 9:103348329 0.983692 581 inframe_indel unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of larynx 0.000317 8.6232 2.3948 BAAT rs61755096 9:101362774:A:G 9 101362774 A G 9:104125056 0.992257 1373 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypercholanemia;not specified Deforming dorsopathies 0.000495 0.7533 0.2162 Carcinoma in situ of skin of lower limb, including hip 0.0002443 277.124 75.548 BAAT rs41281027 9:101368187:C:G 9 101368187 C G 9:104130469 0.997559 33133 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypercholanemia;not specified Other and unspecified types of non-Hodgkin lymphoma (other cancers excluded from controls) 0.000222 0.4442 0.1203 Other and unspecified types of non-Hodgkin lymphoma 0.0002105 1.071 0.289 BAAT rs144591246 9:101370996:C:T 9 101370996 C T 9:104133278 0.986591 1492 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypercholanemia;not specified Subacute thyroiditis 0.00213 2.2644 0.7373 Other and unspecified injuries of thorax 0.0006871 117.468 34.603 BAAT rs1572983 9:101371346:C:T 9 101371346 C T 9:104133628 0.999884 67170 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Haemolytic anaemias 0.00264 -0.2888 0.096 Other and unspecified psoriasis 0.001023 -0.14 0.043 ALDOB rs202210810 9:101427534:G:A 9 101427534 G A 9:104189816 0.990461 370 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Injuries to the thorax 0.000169 1.2914 0.3433 ALDOB rs1800546 9:101427574:C:G 9 101427574 C G 9:104189856 0.991137 1908 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary fructosuria;not provided Other benign neoplasm of uterus: Other parts/unspecified (other cancers excluded from controls) 0.000443 1.5182 0.4322 Aortic aneurysm 0.0002056 17.254 4.648 ALDOB rs10123355 9:101427622:G:T 9 101427622 G T 9:104189904 0.970599 4494 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign paroxysmal vertigo 0.000348 0.4389 0.1227 Benign neoplasm: Other and unspecified parts of mouth (other cancers excluded from controls) 0.0009224 10.735 3.24 GRIN3A rs71509734 9:101573337:T:C 9 101573337 T C 9:104335619 0.989874 1864 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Beningn neoplasm: Meninges, unspecified 0.000859 3.2073 0.9623 Use of disulfiram, acamprosate or naltrexone 0.001801 5.687 1.822 GRIN3A rs75201933 9:101573437:A:G 9 101573437 A G 9:104335719 0.963721 653 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postydysenteric arthropathy 0.00205 7.6884 2.4945 Carcinoma in situ of skin of other and unspecified parts of face 0.0003805 175.77 49.467 SMC2 rs61755310 9:104098498:A:C 9 104098498 A C 9:106860779 0.967983 410 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations of skin 0.00154 4.047 1.2782 Other malignant neoplasms of skin (=non-melanoma skin cancer) 3.042e-05 2.727 0.654 SMC2 rs76421718 9:104118234:G:T 9 104118234 G T 9:106880515 0.966296 0.00629852 16 2298 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of middle ear and respiratory system (other cancers excluded from controls) 4.58e-05 1.516 0.3719 Other soft tissue disorders, not elsewhere classified 0.0004282 3.023 0.858 ABCA1 rs142688906 9:104791982:C:T 9 104791982 C T 9:107554263 0.988987 0.00985879 48 3574 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial High Density Lipoprotein Deficiency;Tangier disease Separation of retinal layers (serosa) 7.67e-05 1.6483 0.4168 Allergic purpura 2.738e-06 33.554 7.155 ABCA1 rs138422574 9:104798522:C:T 9 104798522 C T 9:107560803 0.966383 630 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemangioma and lymphangioma, any site 0.000789 2.2306 0.6645 ABCA1 rs2230808 9:104800523:T:C 9 104800523 T C 9:107562804 0.999595 49809 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pleural plaque 0.000442 -0.2254 0.0641 Ptosis of eyelid 0.001106 -0.114 0.035 ABCA1 rs76881554 9:104816339:G:A 9 104816339 G A 9:107578620 0.993241 1187 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial High Density Lipoprotein Deficiency;Tangier disease Background diabetic retinopathy 0.00194 0.9842 0.3175 Amblyopia ex anopsia 0.001628 53.812 17.079 ABCA1 rs33918808 9:104817351:C:G 9 104817351 C G 9:107579632 0.966903 8465 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial High Density Lipoprotein Deficiency;Tangier disease Carcinoma in situ of skin of trunk 0.000294 1.5739 0.4347 In situ neoplasms (other cancers excluded from controls) 0.0001403 2.116 0.556 ABCA1 rs187652566 9:104822664:C:A 9 104822664 C A 9:107584945 0.981733 555 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Haemangioma and lymphangioma, any site 0.000296 2.655 0.7338 ABCA1 rs2066714 9:104824472:T:C 9 104824472 T C 9:107586753 0.99555 31297 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Volvulus 0.000457 0.5813 0.1658 malignant neoplasm of male genital organs 0.0007807 0.296 0.088 ABCA1 rs2066715 9:104825752:C:T 9 104825752 C T 9:107588033 0.992796 0.0468878 944 16282 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial High Density Lipoprotein Deficiency;Tangier disease Eating disorders 8.89e-05 0.3535 0.0902 Melanocytic naevi of lower limb, including hip (other cancers excluded from controls) 0.0002161 2.583 0.698 ABCA1 rs2066718 9:104826974:C:T 9 104826974 C T 9:107589255 0.994692 6765 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial High Density Lipoprotein Deficiency;Tangier disease Other disorders of breast 0.00229 0.4601 0.1509 Fever of other and unknown origin 0.001586 1.171 0.371 ABCA1 rs9282543 9:104837095:A:G 9 104837095 A G 9:107599376 0.902902 283 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Obesity due to excess calories 0.000285 1.7686 0.4875 ABCA1 rs2230806 9:104858586:C:T 9 104858586 C T 9:107620867 0.999841 64049 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chorioretinal inflammation 0.00049 -0.3497 0.1003 Inflammatory disorders of breast 0.0001927 0.372 0.1 ABCA1 rs145183203 9:104884475:G:A 9 104884475 G A 9:107646756 0.987833 1824 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial High Density Lipoprotein Deficiency;Tangier disease Spondylopathies 0.00052 -0.3436 0.099 Benign neoplasm of other and ill-defined parts of digestive system 0.000562 11.189 3.244 FKTN rs41277797 9:105601145:C:T 9 105601145 C T 9:108363426 0.997465 10529 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Recessive;Fukuyama congenital muscular dystrophy;Walker-Warburg congenital muscular dystrophy;not specified Generalized epilepsy, mode (most common among epilepsy diagnosis) 0.00156 0.482 0.1524 Mixed disorders of conduct and emotions 0.0001412 4.801 1.262 FKTN rs34006675 9:105604218:G:A 9 105604218 G A 9:108366499 0.968441 0.00659249 12 2410 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Fukuyama congenital muscular dystrophy;Walker-Warburg congenital muscular dystrophy;not provided;not specified Substance abuse (more controls excluded) 4.59e-06 0.5111 0.1115 Other arthritis (FG) 0.0002997 13.036 3.606 FKTN rs34787999 9:105604453:G:A 9 105604453 G A 9:108366734 0.999891 75152 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of lens 0.00104 0.044 0.0134 0.0001918 0.411 0.11 FKTN rs141918432 9:105635175:A:G 9 105635175 A G 9:108397456 0.986225 2683 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Recessive;Fukuyama congenital muscular dystrophy;Walker-Warburg congenital muscular dystrophy;not specified Sixth [abducent] nerve palsy 0.000382 1.9576 0.5511 Iridocyclitis in diseases classified elsewhere 0.00336 30.587 10.43 FKTN rs41313301 9:105635214:A:G 9 105635214 A G 9:108397495 0.995642 3179 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Walker-Warburg congenital muscular dystrophy;not specified Malignant neoplasm of breast (other cancers excluded from controls) 0.000675 -0.3719 0.1094 0.0001439 2.976 0.783 TMEM38B rs140157299 9:105773952:C:T 9 105773952 C T 9:108536233 0.980996 1183 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified degenerative diseases of nervous system 0.00012 4.8435 1.2591 Small fibre neuropathy 0.002737 44.522 14.861 TMEM38B rs35232724 9:105773965:G:C 9 105773965 G C 9:108536246 0.997498 2549 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Ischaemic Stroke, excluding all haemorrhages 0.000239 0.3737 0.1017 Death due to cardiac causes 0.0002713 3.067 0.842 TMEM38B rs149026877 9:105774003:G:A 9 105774003 G A 9:108536284 0.988117 2577 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Follicular cysts of skin and subcutaneous tissue 0.00133 0.6006 0.1871 Gonarthrosis, primary, with knee surgery 0.0002973 2.537 0.701 ZNF462 rs41277821 9:106927691:C:T 9 106927691 C T 9:109689972 0.968159 0.00989962 36 3601 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adhesive middle ear disease 9.57e-05 2.6339 0.6751 Respiratory insufficiency 4.64e-05 34.376 8.44 IKBKAP rs1538660 9:108879545:G:A 9 108879545 G A 9:111641825 0.998452 0.187505 13082 55805 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Generalized epilepsy 5.25e-05 0.2013 0.0498 Attention to artificial openings 0.00026 0.705 0.193 IKBKAP rs202080366 9:108880095:C:G 9 108880095 C G 9:111642375 0.998151 287 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Long labour 0.000795 2.1851 0.6514 IKBKAP rs3204145 9:108889340:A:T 9 108889340 A T 9:111651620 0.998376 0.187483 13068 55811 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Generalized epilepsy 5.35e-05 0.2011 0.0498 Attention to artificial openings 0.0002575 0.706 0.193 IKBKAP rs140024352 9:108889341:C:G 9 108889341 C G 9:111651621 0.857285 96 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Nonorganic sleeping disorders (more controls excluded) 0.000708 6.2355 1.8413 IKBKAP rs2230798 9:108893948:T:A 9 108893948 T A 9:111656228 0.991694 9160 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial dysautonomia;not specified Schizophrenia or delusion (more controls excluded) 0.000435 0.3147 0.0895 Other and unspecified visual disturbances 0.0009889 3.111 0.944 IKBKAP rs2230794 9:108897159:T:C 9 108897159 T C 9:111659439 0.998278 29975 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 0.000449 -0.0597 0.017 Oesophageal varices 0.00033 1.299 0.362 IKBKAP rs2230793 9:108897203:T:G 9 108897203 T G 9:111659483 0.998459 63699 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of thyroid gland 0.000531 -0.3121 0.0901 Other congenital malformations 0.000224 0.279 0.076 IKBKAP rs201596987 9:108897271:G:A 9 108897271 G A 9:111659551 0.976926 0.000337518 0 124 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Oher diseases of blood and blood-forming organs 7.76e-05 12.4536 3.1514 IKBKAP rs2230792 9:108898571:C:T 9 108898571 C T 9:111660851 0.998442 63699 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of thyroid gland 0.000534 -0.312 0.0901 Other congenital malformations 0.0002188 0.28 0.076 IKBKAP rs148378319 9:108901650:C:T 9 108901650 C T 9:111663930 0.997612 0.00191079 8 694 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial dysautonomia;not provided;not specified Symptoms and signs involving the circulatory and respiratory systems 1.67e-05 0.3991 0.0927 Haemorrhage from respiratory passages 0.00282 4.601 1.54 IKBKAP rs838827 9:108906372:C:T 9 108906372 C T 9:111668652 0.999134 22700 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial dysautonomia;not specified Type 2 diabetes without complications 0.00178 -0.0991 0.0317 Other congenital malformations of peripheral vascular system 0.0004359 3.967 1.128 IKBKAP rs1140064 9:108916228:C:T 9 108916228 C T 9:111678508 0.999889 8708 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial dysautonomia;not specified Multiple myeloma and malignant plasma cell neoplasms (other cancers excluded from controls) 0.00026 0.8571 0.2347 Depression medications 0.0008976 -0.527 0.159 IKBKAP rs17853166 9:108917660:T:C 9 108917660 T C 9:111679940 0.99989 8775 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial dysautonomia;not specified Multiple myeloma and malignant plasma cell neoplasms (other cancers excluded from controls) 0.000303 0.8424 0.2332 Depression medications 0.0008976 -0.527 0.159 AKAP2 rs759764997 9:110048735:TCCCCCGGAGTCTCCTGGA:T 9 110048735 TCCCCCGGAGTCTCCTGGA T 9:112811015 0.977663 8366 inframe_indel unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease (Late onset) (more controls excluded) 0.000707 0.4157 0.1227 0.0002265 1.183 0.321 AKAP2 rs151065500 9:110136296:C:T 9 110136296 C T 9:112898576 0.995488 1510 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis, primary, with hip surgery 0.000292 0.6043 0.1668 Other and unspecified nail disorders 0.002015 46.785 15.15 AKAP2 rs112958283 9:110137435:C:A 9 110137435 C A 9:112899715 0.953702 820 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol abuse, main dg 0.000633 1.4024 0.4104 Burn and corrosion of hip and lower limb, except ankle and foot 0.0004881 157.505 45.167 MUSK rs35142681 9:110687209:C:T 9 110687209 C T 9:113449489 0.996624 10634 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Myasthenic Syndrome, Recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I;not specified Endocrine disorders, other/unspecified 0.000473 1.0403 0.2976 MS-disease / Multiple Sclerosis 0.0005401 2.668 0.771 MUSK rs55786136 9:110687230:G:A 9 110687230 G A 9:113449510 0.999436 4459 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Myasthenic Syndrome, Recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I;not specified Carcinoma in situ of skin of other and unspecified parts of face (other cancers excluded from controls) 0.000152 1.2214 0.3225 Chronic diseases of tonsils and adenoids 0.0008059 1.305 0.389 MUSK rs55980069 9:110695442:T:C 9 110695442 T C 9:113457722 0.986531 824 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Myasthenic Syndrome, Recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I;not provided;not specified Behavioural disorders (more controls excluded) 0.000328 6.0676 1.6892 0 5.198 0 MUSK rs35176182 9:110695519:A:G 9 110695519 A G 9:113457799 0.996976 63801 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain in joint 0.00115 0.0599 0.0184 Other diseases of intestines 0.001267 0.048 0.015 MUSK rs55826142 9:110734287:A:G 9 110734287 A G 9:113496567 0.925426 116 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Haemorrhage, not elsewhere classified 0.000113 20.3963 5.2816 MUSK rs200064775 9:110767960:C:T 9 110767960 C T 9:113530240 0.815006 107 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified acute skin changes due to ultraviolet radiation 0.000275 15.2764 4.1997 MUSK rs2274419 9:110775842:G:A 9 110775842 G A 9:113538122 0.995233 47320 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyarthritis, unspecified 0.00023 0.3664 0.0995 Radial styloid tenosynovitis [de Quervain] 2.898e-06 0.704 0.151 MUSK rs41279055 9:110800309:T:C 9 110800309 T C 9:113562589 0.990002 810 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hordeolum and other deep inflammation of eyelid 0.000133 3.4244 0.8962 MUSK rs199811263 9:110800329:A:C 9 110800329 A C 9:113562609 0.999321 1206 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified trigeminal disorders 0.000136 4.6337 1.2143 MUSK rs55963442 9:110800369:A:G 9 110800369 A G 9:113562649 0.983175 1892 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I;not specified Other noninflammatory disorders of vulva and perineum 0.00041 1.2485 0.3533 Soft tissue disorders related to use, overuse and pressure 0.0002695 10.517 2.887 MUSK rs578430 9:110800863:G:T 9 110800863 G T 9:113563143 0.997865 2886 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Myasthenic Syndrome, Recessive;Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I;not specified Personal history of other diseases and conditions 0.00127 0.8534 0.2649 Other and unspecified nail disorders 0.0005983 133.453 38.88 SUSD1 rs80215167 9:112063019:C:T 9 112063019 C T 9:114825299 0.896492 0.000756693 0 278 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with renal complications 3.07e-05 4.24 1.0172 SUSD1 rs17829458 9:112142425:G:C 9 112142425 G C 9:114904705 0.997577 454 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other renal tubulo-interstitial diseases 0.000497 5.4868 1.5756 HSDL2 rs41280175 9:112405714:A:T 9 112405714 A T 9:115167994 0.938394 3152 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Undetermined asthma (more controls excluded) 0.000445 0.7957 0.2266 Torsion of ovary, ovarian pedicle and fallobian tube 0.001923 43.75 14.104 PRPF4 rs1138958 9:113278969:A:G 9 113278969 A G 9:116041249 0.994524 6850 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of the genitourinary system 0.0021 0.4554 0.148 Carcinoma in situ of breast, intraductal 0.00177 4.201 1.344 ALAD rs200180791 9:113389515:C:T 9 113389515 C T 9:116151795 0.980088 279 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of ovary (other cancers excluded from controls) 0.000844 2.1526 0.6449 ALAD rs1800435 9:113391611:C:G 9 113391611 C G 9:116153891 0.993859 26029 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM;Porphobilinogen synthase deficiency Other and unspecified injuries of wrist and hand 0.000567 0.5231 0.1517 Pollen allergy 0.001592 0.449 0.142 RGS3 rs140906223 9:113583688:C:T 9 113583688 C T 9:116345968 0.955673 2389 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitamin deficiency 0.000624 1.5471 0.4523 Postprocedural endocrine and metabolic disorders, not elsewhere classified 0.0002929 16.85 4.653 COL27A1 rs200179131 9:114168690:A:T 9 114168690 A T 9:116930970 0.990656 1710 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteoporosis 0.000965 0.7448 0.2257 Other hammer toe(s) (acquired) 0.001628 46.043 14.613 COL27A1 rs148833602 9:114169210:G:A 9 114169210 G A 9:116931490 0.995545 2563 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications predominantly related to the puerperium 0.000681 -0.6721 0.1978 Pleural plaque 0.0009733 10.168 3.083 COL27A1 rs41277743 9:114242209:C:T 9 114242209 C T 9:117004489 0.918552 0.000982612 0 361 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy 4.6e-05 2.611 0.6407 COL27A1 rs143876527 9:114250623:G:A 9 114250623 G A 9:117012903 0.975304 332 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Prolonged pregnancy 0.00102 2.619 0.7975 COL27A1 rs149629527 9:114306644:G:A 9 114306644 G A 9:117068924 0.980036 0.00440406 20 1598 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anomalies of pupillary function 5.68e-05 4.6235 1.1485 Other abnormalities of plasma proteins 0.0007562 106.058 31.487 ORM1 rs17650 9:114323246:G:A 9 114323246 G A 9:117085526 0.973368 78663 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of alcohol 0.000294 0.3367 0.093 0.0002497 -0.021 0.006 WHRN rs55749855 9:114403248:C:T 9 114403248 C T 9:117165528 0.959422 95 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mild mental retardation 0.000327 13.3757 3.7229 WHRN rs2274158 9:114403926:G:T 9 114403926 G T 9:117166206 0.998701 73776 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes, definitions combined 0.000447 -0.0464 0.0132 Cystitis 0.0006407 -0.085 0.025 WHRN rs201555289 9:114403960:G:A 9 114403960 G A 9:117166240 0.980168 0.000348406 0 128 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Asthma mixed form (mode) 6.16e-06 14.3007 3.1632 WHRN rs2274159 9:114403966:A:G 9 114403966 A G 9:117166246 0.999926 91955 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of thorax 0.000614 -0.3793 0.1107 Other headache syndromes 0.0004054 0.056 0.016 WHRN rs139279977 9:114406564:G:C 9 114406564 G C 9:117168844 0.978906 429 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other joint disorders 0.00111 -0.4649 0.1425 WHRN rs942519 9:114406753:A:G 9 114406753 A G 9:117169033 0.998932 92099 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of thorax 0.000329 -0.3979 0.1108 0.0002747 -0.033 0.009 WHRN rs12339210 9:114407961:G:C 9 114407961 G C 9:117170241 0.994196 48816 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes 0.00113 -0.0504 0.0155 Infective dermatitis 0.0004909 0.32 0.092 WHRN rs182072601 9:114407967:C:T 9 114407967 C T 9:117170247 0.985467 1244 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Decubitus ulcer and pressure area 0.000251 2.2752 0.6215 Soft tissue disorders 0 2.727 0 WHRN rs79572315 9:114423486:G:A 9 114423486 G A 9:117185766 0.99591 5692 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Certain disorders involving the immune mechanism 0.00042 -0.4428 0.1255 Malignant neoplasm of vulva 0.0001751 23.81 6.345 WHRN rs4978584 9:114424432:C:T 9 114424432 C T 9:117186712 0.997178 71972 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes 0.000725 -0.0431 0.0127 Localized scleroderma [morphea] 0.0008794 0.595 0.179 WHRN rs56059137 9:114426242:G:A 9 114426242 G A 9:117188522 0.993254 0.000451838 2 164 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes with other specified/multiple/unspecified complications 8.64e-05 3.1613 0.8052 WHRN rs56204273 9:114504573:T:A 9 114504573 T A 9:117266853 0.898153 635 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Poisoning by narcotics and psychodysleptics [hallucinogens] 0.00169 5.4731 1.7436 Family history of malignant neoplasm 0.0008774 87.44 26.281 TNFSF15 rs16931745 9:114790878:A:T 9 114790878 A T 9:117553158 0.986453 831 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypopituitarism 0.00207 2.0274 0.6582 TNC rs2274750 9:115040992:C:T 9 115040992 C T 9:117803271 0.998694 25245 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcoholic gastritis 0.0011 -0.614 0.1881 Melanocytic naevi of other and unspecified parts of face 0.0003163 1.087 0.302 TNC rs61734387 9:115046442:C:T 9 115046442 C T 9:117808721 0.973241 1689 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other CVD 0.00108 0.866 0.265 Cushing syndrome 0.0002625 216.575 59.34 TNC rs150868783 9:115081802:C:A 9 115081802 C A 9:117844081 0.988596 268 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ascites 0.000518 5.3817 1.5504 TNC rs3827816 9:115085918:C:T 9 115085918 C T 9:117848197 0.984174 9510 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcer of oesophagus 0.000589 0.515 0.1499 0.0003829 3.887 1.094 TNC rs61729478 9:115086089:C:T 9 115086089 C T 9:117848368 0.979899 4357 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fistulae involving female genital tract 0.000114 2.4592 0.6374 Thyroiditis 0.001286 9.004 2.797 TNC rs145086096 9:115086389:G:C 9 115086389 G C 9:117848668 0.981056 1779 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Hyperlipidaemia, other/unspecified 0.000221 -0.6169 0.167 Statin medication 0.0005845 -1.189 0.346 TNC rs144032672 9:115087103:C:T 9 115087103 C T 9:117849382 0.996176 0.00104249 2 381 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services for other counselling and medical advice, not elsewhere classified 5.2e-05 0.8076 0.1996 TNC rs149187112 9:115090931:G:A 9 115090931 G A 9:117853210 0.972965 0.00186179 0 684 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory disease of uterus 2.18e-05 1.9802 0.4664 PAPPA rs146292613 9:116187201:G:A 9 116187201 G A 9:118949480 0.951677 497 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sensorineural hearing loss 0.000889 0.6154 0.1852 TRIM32 rs117599771 9:116698300:G:C 9 116698300 G C 9:119460579 0.995671 0.00124392 0 457 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tic disorders (more controls excluded) 1.9e-06 18.7675 3.9395 ASTN2 rs56153291 9:116863593:G:A 9 116863593 G A 9:119625872 0.989679 135 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Stenosis and insufficiency of lacrimal passages 0.000334 5.9703 1.6644 ASTN2 rs139148246 9:117214604:A:T 9 117214604 A T 9:119976883 0.997848 528 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified soft tissue disorders 0.000237 3.5115 0.9552 TLR4 rs137853920 9:117712970:G:A 9 117712970 G A 9:120475248 0.976945 272 missense_variant unknown not provided not_provided no assertion provided none Hemiplegia 0.00131 4.278 1.3315 TLR4 rs4986790 9:117713024:A:G 9 117713024 A G 9:120475302 0.999847 0.0989009 3524 32811 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Gestational diabetes (for exclusion) 2.37e-05 0.1649 0.039 Other benign neoplasms of skin (other cancers excluded from controls) 0.0003028 0.273 0.076 TLR4 rs4986791 9:117713324:C:T 9 117713324 C T 9:120475602 0.999261 0.100578 3638 33313 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Gestational diabetes (for exclusion) 1.11e-05 0.1703 0.0388 Other benign neoplasms of skin (other cancers excluded from controls) 9.451e-05 0.294 0.075 BRINP1 rs139063583 9:119167448:G:A 9 119167448 G A 9:121929726 0.98485 7297 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chirrosis of liver, NAS 0.000956 0.9726 0.2945 Carcinoma in situ of breast 0.0003213 4.106 1.141 BRINP1 rs142894245 9:119208818:G:A 9 119208818 G A 9:121971096 0.99723 2305 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atrial fibrillation and flutter 0.000654 0.3452 0.1013 0.0002285 3.706 1.006 CDK5RAP2 rs4837768 9:120408455:C:G 9 120408455 C G 9:123170733 0.992385 0.776754 221920 63450 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyloidosis, other/unspecified 8.57e-06 -0.6433 0.1445 Amyloidosis, other/unspecified 4.357e-05 -0.35 0.086 CDK5RAP2 rs3780679 9:120443634:C:G 9 120443634 C G 9:123205912 0.997487 0.0363648 540 12820 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary Microcephaly, Recessive;Primary autosomal recessive microcephaly 3;not specified Carcinoma in situ of skin of scalp and neck 1.26e-05 1.9167 0.439 Viral hepatitis, IBD co-morbidity 2.359e-05 2.937 0.695 CDK5RAP2 rs34523498 9:120443703:C:T 9 120443703 C T 9:123205981 0.997489 0.0363567 540 12817 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary autosomal recessive microcephaly 3;not specified Carcinoma in situ of skin of scalp and neck 1.26e-05 1.917 0.439 Viral hepatitis, IBD co-morbidity 2.359e-05 2.937 0.695 CDK5RAP2 rs141496431 9:120443734:G:C 9 120443734 G C 9:123206012 0.988517 975 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Oligomenorrhoea 0.000316 2.9201 0.8108 CDK5RAP2 rs112600265 9:120453594:G:C 9 120453594 G C 9:123215872 0.97491 964 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary Microcephaly, Recessive;not specified Major coronary heart disease event 0.000217 0.5249 0.1419 Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.0004229 162.273 46.03 CDK5RAP2 rs41296081 9:120477365:A:G 9 120477365 A G 9:123239643 0.992096 0.0224776 214 8044 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary autosomal recessive microcephaly 3;not specified Amyloidosis, other/unspecified 8.73e-16 4.3542 0.5413 Focal epilepsy 0.0004525 6.429 1.833 CDK5RAP2 rs4836822 9:120528758:C:G 9 120528758 C G 9:123291036 0.99917 0.926016 315078 25129 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vasomotor rhinitis (mode) 9.4e-06 -0.452 0.102 Vasomotor rhinitis (mode) 8.105e-05 -0.21 0.053 CDK5RAP2 rs61756286 9:120539136:C:T 9 120539136 C T 9:123301414 0.996612 439 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Alzheimer's disease (Late onset) 0.000333 1.8593 0.5182 C5 rs17612 9:120963648:T:G 9 120963648 T G 9:123725926 0.997162 0.0191106 188 6833 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Vitamin D deficiency 2.46e-05 2.4997 0.5926 Benign neoplasm: Duodenum (other cancers excluded from controls) 0.001397 9.182 2.874 C5 rs17611 9:121006922:C:T 9 121006922 C T 9:123769200 0.997979 0.480122 85092 91299 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of thyroid, IBD co-morbidities 2.22e-05 -0.1085 0.0256 Disorders of thyroid, IBD co-morbidities 1.293e-06 -0.104 0.022 C5 rs34552775 9:121023460:G:T 9 121023460 G T 9:123785738 0.995191 0.0254472 260 9089 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amyloidosis, other/unspecified 2.49e-18 4.5917 0.5258 Amyloidosis, other/unspecified 1.074e-06 18.474 3.788 CNTRL rs147018954 9:121088364:C:A 9 121088364 C A 9:123850642 0.990138 226 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of gallbladder 0.000446 5.6583 1.6114 Contact with and exposure to communicable diseases 0.001199 67.088 20.711 CNTRL rs148672807 9:121142260:T:C 9 121142260 T C 9:123904538 0.953962 0.0022973 4 840 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amenorrhoea 6.51e-05 2.3697 0.5934 CNTRL rs34633370 9:121169740:A:G 9 121169740 A G 9:123932018 0.986572 432 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bursitis of shoulder 0.00014 7.6658 2.0126 Injury of muscle and tendon at ankle and foot level 0.0005266 148.054 42.706 CNTRL rs72760254 9:121169761:C:A 9 121169761 C A 9:123932039 0.975996 0.00269742 2 989 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizoaffective disorder 7.83e-05 1.8746 0.4746 Anorexia (incl.atypical) 0.0006408 137.157 40.178 AL513122.2 rs2230287 9:121302946:G:A 9 121302946 G A 9:124065224 0.998433 10897 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amyloidosis Other dorsopathies, not elsewhere classified 0.000424 0.0971 0.0275 Diverticular disease of intestine 0.001256 0.546 0.169 AL513122.2 rs41305623 9:121310714:G:A 9 121310714 G A 9:124072992 0.99264 0.0213453 160 7682 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyloidosis Contraceptive management 4.54e-05 0.2144 0.0526 Dislocation, sprain and strain of joints and ligaments of shoulder girdle 7.129e-06 2.607 0.581 AL513122.2 rs140042418 9:121321301:G:A 9 121321301 G A 9:124083579 0.991829 207 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personal history of risk-factors, not elsewhere classified 0.00228 14.8695 4.8724 AL513122.2 rs116185403 9:121321364:C:T 9 121321364 C T 9:124083642 0.966479 272 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sequelae of cerebrovascular disease 0.00195 1.552 0.501 AL513122.2 rs142828669 9:121326516:G:A 9 121326516 G A 9:124088794 0.882865 0.000345684 0 127 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Tongue (other cancers excluded from controls) 8.83e-05 17.0049 4.3374 GSN rs77681311 9:121326630:C:G 9 121326630 C G 9:124088908 0.996811 0.0154333 100 5570 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amyloidosis Helminthiases 3.24e-05 2.0344 0.4895 Other and unspecified disorders involving the immune mechanism, not elsewhere classified 0.0005446 14.382 4.159 AL513122.2 rs76463933 9:121327414:C:T 9 121327414 C T 9:124089692 0.996847 0.0154551 102 5576 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amyloidosis Helminthiases 3.31e-05 2.0295 0.4889 Other and unspecified disorders involving the immune mechanism, not elsewhere classified 0.0005806 13.964 4.059 PTGS1 rs749977121 9:122371212:TTCCTGC:T 9 122371212 TTCCTGC T 9:125133491 0.961417 1978 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impacted cerumen 0.000896 1.3102 0.3945 Other intracranial haemorrhages 0.001037 79.021 24.09 OR1B1 rs11421222 9:122629491:C:CA 9 122629491 C CA 9:125391770 0.993378 88997 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis 0.000478 -0.0732 0.021 0.001057 0.031 0.01 CRB2 rs201425854 9:123356265:C:T 9 123356265 C T 9:126118544 0.964596 3882 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peritonsillar abscess 0.00163 0.4004 0.1271 Infective dermatitis 0.001006 5.401 1.642 CRB2 rs200283870 9:123362912:G:A 9 123362912 G A 9:126125191 0.998652 4306 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of genitourinary prosthetic devices, implants and grafts 0.00211 1.4885 0.4843 Female infertility, tubal origin 3.849e-05 13.212 3.21 CRB2 rs138381817 9:123363048:G:A 9 123363048 G A 9:126125327 0.895895 688 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Volume depletion 0.000104 3.1672 0.816 Congenital deformities of feet 0.0003894 163.803 46.178 CRB2 rs34802652 9:123370270:C:T 9 123370270 C T 9:126132549 0.952882 0.000277636 0 102 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kela-code for behavioural disturbances in mental retardation 1.8e-05 35.2722 8.2259 CRB2 rs145286619 9:123370881:C:T 9 123370881 C T 9:126133160 0.954646 1771 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasms of skin (other cancers excluded from controls) 5e-04 0.5331 0.1531 Frostbite 0.0003509 189.383 52.982 CRB2 rs35578485 9:123373659:C:T 9 123373659 C T 9:126135938 0.905757 537 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of other and unspecified parts of face (other cancers excluded from controls) 0.00187 2.7545 0.8856 Endocrine, nutritional and metabolic diseases 0 1.863 0 DENND1A rs149353656 9:123382480:G:A 9 123382480 G A 9:126144759 0.962675 780 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Protozoal diseases 0.000223 5.2609 1.425 Achalasia of cardia 0.0009681 85.22 25.827 NR5A1 rs1110061 9:124500523:C:G 9 124500523 C G 9:127262802 0.983144 2391 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Foreign body on external eye 0.000129 0.8577 0.224 Phakomatoses, not elsewhere classified 0.0008296 99.531 29.775 RPL35 rs138696336 9:124857989:T:G 9 124857989 T G 9:127620268 0.953793 1529 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to use of other stimulants, including caffeine 0.00155 2.1457 0.678 Benign neoplasm of thyroid gland (other cancers excluded from controls) 0.0004865 146.63 42.037 HSPA5 rs56136100 9:125236887:T:C 9 125236887 T C 9:127999166 0.998497 0.00949949 48 3442 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ingrowing nail 8.13e-05 1.3511 0.3429 Other and unspecified abdominal hernia 0.0004396 15.479 4.403 GAPVD1 rs55779102 9:125302647:G:A 9 125302647 G A 9:128064926 0.974764 793 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute peritonitis 0.000463 2.4618 0.7031 LRSAM1 rs117692127 9:127459018:G:A 9 127459018 G A 9:130221297 0.974487 429 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Perioral dermatitis 0.00012 11.2295 2.9189 LRSAM1 rs201772539 9:127461201:T:C 9 127461201 T C 9:130223480 0.99335 0.00236535 4 865 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes mellitus in pregnancy 3.7e-05 1.0108 0.245 Herpesviral keratitis and keratoconjunctivitis 0.0004946 156.33 44.875 LRSAM1 rs1539567 9:127479887:A:G 9 127479887 A G 9:130242166 0.996507 40664 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Weight loss 0.000876 0.2418 0.0727 Weight loss 0.0004517 0.141 0.04 LRSAM1 rs56380300 9:127479900:A:G 9 127479900 A G 9:130242179 0.959818 1417 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease type 2P;Charcot-Marie-Tooth disease, type 2;not provided;not specified Benign neoplasm of ovary (other cancers excluded from controls) 0.000379 0.9183 0.2584 Melanocytic naevi (other cancers excluded from controls) 0.0003563 14.163 3.967 LRSAM1 rs150062009 9:127496045:C:T 9 127496045 C T 9:130258324 0.984606 466 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intracerebral haemmorrhage 0.00131 2.2358 0.6956 LRSAM1 rs140786088 9:127501072:G:A 9 127501072 G A 9:130263351 0.996468 0.0324834 438 11496 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease type 2P;Charcot-Marie-Tooth disease, type 2;not specified Acute alcohol intoxication 8.76e-06 0.3668 0.0825 Other obstetric trauma 0.001406 2.782 0.871 TTC16 rs78007177 9:127717702:G:A 9 127717702 G A 9:130479981 0.980803 2190 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Endometriosis of rectovaginal septum and vagina 0.000192 1.1648 0.3123 Carcinoma in situ of skin of scalp and neck 0.001365 64.158 20.036 ENG rs148002300 9:127815951:G:A 9 127815951 G A 9:130578230 0.978767 0.00165765 2 607 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Severe diabetic background retinopathy 3.69e-05 6.017 1.4582 ENG rs1800956 9:127824342:C:G 9 127824342 C G 9:130586621 0.979138 396 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, strict definition 0.000259 2.1543 0.5898 ENG rs752195587 9:127825789:G:A 9 127825789 G A 9:130588068 0.872209 348 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oesophageal obstruction 0.000161 6.8033 1.8032 ENG rs41322046 9:127825812:C:T 9 127825812 C T 9:130588091 0.942348 1477 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Juvenile Polyposis;Osler hemorrhagic telangiectasia syndrome;not provided;not specified Disorders of eyelid in diseases classified elsewhere 0.000477 2.6334 0.7538 0.000238 190.134 51.739 ENG rs187643086 9:127843155:C:T 9 127843155 C T 9:130605434 0.947235 290 missense_variant dominant Uncertain significance VUS no assertion criteria provided no_Criteria not provided Any death 0.000472 -0.8476 0.2424 Type 1 diabetes with ketoacidosis 0.0002995 198.321 54.85 ENG rs35400405 9:127854342:G:A 9 127854342 G A 9:130616621 0.980096 2330 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Juvenile Polyposis;Osler hemorrhagic telangiectasia syndrome;not provided;not specified Idiopathic gout 0.000403 1.4863 0.42 Benign neoplasm: Bronchus and lung (other cancers excluded from controls) 0.0008425 95.111 28.49 AK1 rs8192462 9:127868470:C:G 9 127868470 C G 9:130630749 0.986556 12121 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Conjunctivitis (acute, non atopic) 0.000497 -0.2446 0.0702 Panniculitis, unspecified 4.254e-06 13.076 2.844 DPM2 rs7997 9:127935750:G:C 9 127935750 G C 9:130698029 0.998523 41403 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Presence of other devices 0.000862 -0.1609 0.0483 Presence of other devices 0.0003488 -0.096 0.027 DPM2 rs147263320 9:127936595:C:T 9 127936595 C T 9:130698874 0.943835 121 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic rhinitsi, nasopharyngitis and pharyngitis 0.000535 2.538 0.7329 CIZ1 rs11549260 9:128166354:C:T 9 128166354 C T 9:130928633 0.984762 9928 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dystonia Other disorders of veins 0.000101 0.2662 0.0684 Chronic gastritis 9.78e-05 1.273 0.327 CIZ1 rs150535884 9:128179008:A:G 9 128179008 A G 9:130941287 0.992793 2466 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Angina pectoris 0.000104 0.3564 0.0919 Spermatocele 0.0005176 9.947 2.865 CIZ1 rs61740197 9:128179037:C:A 9 128179037 C A 9:130941316 0.93008 1682 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dystonia Circumscribed brain atrophy 0.000218 4.0574 1.0973 Problems related to negative life events in childhood 3.369e-05 564.355 136.089 DNM1 rs61757224 9:128203516:C:A 9 128203516 C A 9:130965795 0.987788 403 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Agranulocytosis 0.000317 3.009 0.8355 DNM1 rs35048348 9:128222530:C:T 9 128222530 C T 9:130984809 0.992934 20539 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of peritoneum 0.000796 0.2927 0.0873 Causalgia 0.001802 2.605 0.835 DNM1 rs199498658 9:128254659:C:T 9 128254659 C T 9:131016938 0.902355 2397 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 31;not provided Other dorsopathies, not elsewhere classified 0.000103 0.2279 0.0587 Abnormalities of breathing 6.959e-05 2.032 0.511 GOLGA2 rs201662917 9:128257383:G:A 9 128257383 G A 9:131019662 0.938648 0.000862848 0 317 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of oesophagus in diseases classified elsewhere 4.92e-05 12.9749 3.1962 GOLGA2 rs74686374 9:128260497:G:C 9 128260497 G C 9:131022776 0.990959 5556 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental retardation 0.00112 0.8559 0.2627 Adhesive middle ear disease 0.0002374 21.047 5.726 COQ4 rs9697215 9:128322917:G:A 9 128322917 G A 9:131085196 0.998482 12219 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Benign paroxysmal vertigo 0.000341 0.2642 0.0738 Haemangioma and lymphangioma, any site 0.0009006 1.873 0.564 COQ4 rs7880 9:128323345:G:T 9 128323345 G T 9:131085624 0.997903 19008 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of inner ear 0.00122 0.122 0.0377 Status epilepticus 0.0005196 2.13 0.614 COQ4 rs34043652 9:128332174:G:A 9 128332174 G A 9:131094453 0.9319 141 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 0.00041 1.2987 0.3675 COQ4 rs141228574 9:128332233:G:C 9 128332233 G C 9:131094512 0.990718 1007 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coenzyme Q10 deficiency, primary, 7;not specified Other obstructive and reflux uropathy 0.000265 1.522 0.4173 Fracture at wrist and hand level 0.0001625 19.122 5.071 SLC27A4 rs111417655 9:128353089:A:G 9 128353089 A G 9:131115368 0.922967 3287 missense_variant unknown not provided not_provided no assertion provided none Disorders of mineral metabolism 0.000427 1.0921 0.31 Endocrine, nutritional and metabolic diseases 0.0002507 -1.148 0.314 GLE1 rs2275260 9:128523676:A:G 9 128523676 A G 9:131285955 0.997104 0.230669 20004 64741 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of surgical and medical care, not elsewhere classified 3.77e-05 -0.0606 0.0147 Complications of surgical and medical care, not elsewhere classified 0.0005149 -0.067 0.019 GLE1 rs138310419 9:128525294:G:A 9 128525294 G A 9:131287573 0.959152 17311 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lethal Congenital Contracture Syndrome;Lethal arthrogryposis with anterior horn cell disease;not specified Superficial injuries involving multiple body regions 0.000573 0.8147 0.2365 Cough 0.0003443 0.529 0.148 SPTAN1 rs144787939 9:128579718:T:G 9 128579718 T G 9:131341997 0.981808 673 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy;Rolandic epilepsy;Seizures;not specified Myalgia 0.000185 1.4403 0.3853 Cardiac arrhytmias, COPD co-morbidities 0 5.397 0 SPTAN1 rs77358650 9:128580928:G:A 9 128580928 G A 9:131343207 0.95418 107 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Other papulosquamous disorders 0.000649 26.58 7.7938 SPTAN1 rs148727077 9:128581831:C:T 9 128581831 C T 9:131344110 0.900424 153 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arthrosis 0.000953 0.8713 0.2637 SPTAN1 rs752347538 9:128608015:G:A 9 128608015 G A 9:131370294 0.951409 102 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of amniotic fluid and membranes 0.000449 5.8889 1.678 SPTAN1 rs753106083 9:128611790:T:C 9 128611790 T C 9:131374069 0.9556 551 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of upper respiratory tract 0.0011 -0.3694 0.1131 SPTAN1 rs199930602 9:128626519:G:C 9 128626519 G C 9:131388798 0.96925 1463 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Other specified/unspecified bacterial intestinal infections 0.00173 1.527 0.4874 Endometriosis 9.406e-05 3.009 0.771 SPTAN1 rs141980692 9:128633219:G:A 9 128633219 G A 9:131395498 0.90004 257 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of urethra and urinary system 0.000885 0.9615 0.2892 WDR34 rs17849504 9:128634837:C:T 9 128634837 C T 9:131397116 0.931766 627 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Short-rib thoracic dysplasia 11 with or without polydactyly Disorder of lipoprotein metabolism, unspecified 0.000589 1.806 0.5255 Disorders of gallbladder, biliary tract and pancreas 0 3.538 0 WDR34 rs148543026 9:128636368:G:A 9 128636368 G A 9:131398647 0.99005 7483 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of gait and mobility 0.000277 0.5986 0.1646 Other nutritional anaemias 0.0005608 14.157 4.104 KYAT1 rs138949483 9:128847452:G:A 9 128847452 G A 9:131609731 0.850189 0.00196795 2 721 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kela-code for behavioural disturbances in mental retardation 6.57e-05 8.6428 2.1653 LRRC8A rs143836544 9:128908863:G:A 9 128908863 G A 9:131671142 0.962273 1682 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Type 2 diabetes 0.000843 0.2739 0.0821 Inflammatory diseases of prostate (prostatitis) 4.333e-06 16.641 3.622 DOLK rs139787271 9:128946604:T:C 9 128946604 T C 9:131708883 0.98526 1085 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Traumatic subarachnoid haemorrhage 0.000965 3.092 0.9368 DOLK rs145310298 9:128946673:G:A 9 128946673 G A 9:131708952 0.98321 288 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Symptoms and signs concerning food and fluid intake 0.000508 3.6196 1.0412 DOLK rs531969689 9:128947302:A:AT 9 128947302 A AT 9:131709581 0.988244 3378 pLoF recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation type 1M;not provided;not specified Other diseases of peritoneum 0.000185 1.3145 0.3517 0.0001229 1.436 0.374 NUP188 rs41316500 9:129001659:G:A 9 129001659 G A 9:131763938 0.944717 0.00895783 32 3259 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presence of cardiac and vascular implants and grafts 5.66e-05 -0.4267 0.106 Iridocyclitis 0.001092 4.975 1.524 NUP188 rs61751465 9:129005527:T:G 9 129005527 T G 9:131767806 0.989278 3570 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of peritoneum 0.000555 1.1377 0.3295 Disorders of eyelid, lacrimal system and orbit 0.0006539 2.321 0.681 CRAT rs145822836 9:129100624:T:C 9 129100624 T C 9:131862903 0.965092 1286 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Childhood asthma (age<16) 0.000793 0.9422 0.2808 CRAT rs141970897 9:129104269:T:C 9 129104269 T C 9:131866548 0.97978 308 missense_variant recessive Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Other disorders of male genital organs 0.000784 6.5018 1.9359 TOR1A rs1801968 9:129818622:C:G 9 129818622 C G 9:132580901 0.99065 49162 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Trigger finger 0.000716 0.1733 0.0512 Asthma and opportunit respiratory infection 0.0002878 0.617 0.17 TOR1A rs199535970 9:129822664:C:T 9 129822664 C T 9:132584943 0.991026 503 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Middle ear, nasal cavity and accessory sinuses (other cancers excluded from controls) 0.00174 3.9577 1.2638 TOR1A rs200493208 9:129824060:C:G 9 129824060 C G 9:132586339 0.988705 10769 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dystonia;Dystonia 1 Other demyelinating diseases of the central nervous system 0.000638 0.7694 0.2253 MS-disease / Multiple Sclerosis 0.000134 3.06 0.801 EXOSC2 rs148203698 9:130693813:C:G 9 130693813 C G 9:133569200 0.978336 2504 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other general symptoms and signs 0.000776 1.692 0.5034 Other symptoms and signs involving general sensations and perceptions 0.0005113 150.67 43.361 ABL1 rs34549764 9:130862953:A:G 9 130862953 A G 9:133738340 0.992366 1326 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hereditary ataxia 0.000794 4.8858 1.4564 Cardiovascular diseases (excluding rheumatic etc) 0 3.508 0 ABL1 rs143837301 9:130884406:G:A 9 130884406 G A 9:133759793 0.996114 482 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impingement syndrome of shoulder 0.00108 1.0463 0.3199 ABL1 rs2229071 9:130884719:C:T 9 130884719 C T 9:133760106 0.964629 1412 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Blepharochalasis 0.00019 -0.8837 0.2368 2.255e-08 12.591 2.252 ABL1 rs2229067 9:130885205:C:T 9 130885205 C T 9:133760592 0.997163 12546 missense_variant dominant not provided not_provided no assertion provided none not specified Ulcerative colitis ( strict definition, all Crohn cases excluded) 0.000254 0.3455 0.0944 Nontraumatic intracranial haemmorrhage 4.46e-05 1.317 0.323 QRFP rs139997194 9:130893579:C:T 9 130893579 C T 9:133768966 0.96781 4056 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic nephritic syndrome 0.00054 1.0366 0.2996 Secondary malignant neoplasm of other and unspecified sites (other cancers excluded from controls) 0.00381 26.285 9.084 LAMC3 rs201962705 9:131009360:A:G 9 131009360 A G 9:133884747 0.897207 294 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Obstructive hydrocephalus 0.000347 14.2383 3.9803 LAMC3 rs3739512 9:131009433:T:G 9 131009433 T G 9:133884820 0.9545 90922 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chondrocostal junction syndrome [Tietze] 0.000179 -0.3187 0.0851 Chondrocostal junction syndrome [Tietze] 0.0007007 -0.228 0.067 LAMC3 rs45628035 9:131026365:C:T 9 131026365 C T 9:133901752 0.988071 2801 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cortical malformations, occipital;not specified Hodgkin lymphoma (other cancers excluded from controls) 0.000267 2.0842 0.5717 Benign neoplasm of eye and adnexa (other cancers excluded from controls) 0.0004773 14.538 4.162 LAMC3 rs2275137 9:131026432:C:A 9 131026432 C A 9:133901819 0.982621 38256 missense_variant recessive Benign/Likely benign (likely)Benign no assertion criteria provided no_Criteria Pustulosis palmaris et plantaris 0.000356 0.3968 0.1111 Psoriasis 5.783e-06 0.352 0.078 LAMC3 rs869457 9:131049064:C:T 9 131049064 C T 9:133924451 0.986664 81388 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 0.000373 0.4265 0.1199 Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 0.000236 0.486 0.132 LAMC3 rs10901333 9:131052491:A:G 9 131052491 A G 9:133927878 0.993789 91354 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria MS-disease / Multiple Sclerosis 0.00041 0.1789 0.0506 MS-disease / Multiple Sclerosis 1.731e-05 0.179 0.042 LAMC3 rs199764333 9:131052547:C:T 9 131052547 C T 9:133927934 0.98998 7250 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ganglion 0.000525 0.3237 0.0934 Oher enthesopathy of foot (+metatarsalgia) 0.0006155 3.514 1.026 LAMC3 rs3739510 9:131061184:C:G 9 131061184 C G 9:133936571 0.997352 44939 missense_variant recessive Benign/Likely benign (likely)Benign no assertion criteria provided no_Criteria Pleural effusion 0.000566 -0.1885 0.0547 Haemolytic anaemias 0.0006329 -0.228 0.067 LAMC3 rs2275140 9:131072662:A:G 9 131072662 A G 9:133948049 0.992747 44153 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pleural effusion 0.000754 -0.1859 0.0552 Haemolytic anaemias 0.001298 -0.215 0.067 LAMC3 rs146221263 9:131072668:G:C 9 131072668 G C 9:133948055 0.998812 314 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Adult-onset Still disease 0.00032 2.0085 0.5581 LAMC3 rs113259170 9:131072789:C:T 9 131072789 C T 9:133948176 0.990677 3041 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Gastro-oesophageal reflux disease 0.000722 0.2786 0.0824 Fracture of foot, except ankle 0.000388 3.951 1.114 LAMC3 rs140955110 9:131072797:G:A 9 131072797 G A 9:133948184 0.999914 334 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Adult-onset Still disease 0.000563 1.8387 0.5331 LAMC3 rs11244275 9:131079161:C:T 9 131079161 C T 9:133954548 0.973915 23308 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Ganglion 0.000406 0.1845 0.0522 Other/unspecified rheumatoid arthritis 0.00038 0.748 0.211 LAMC3 rs147092908 9:131085639:G:C 9 131085639 G C 9:133961026 0.930082 295 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Giant cell arteritis with polymyalgia rheumatica 0.00112 7.0356 2.159 LAMC3 rs7024108 9:131087543:C:T 9 131087543 C T 9:133962930 0.991288 82140 missense_variant recessive Benign/Likely benign (likely)Benign no assertion criteria provided no_Criteria Special screening examination for infectious and parasitic diseases 0.000316 0.0815 0.0226 Unspecified mental disorder 2.566e-05 0.108 0.026 LAMC3 rs4740412 9:131087621:G:A 9 131087621 G A 9:133963008 0.999411 0.236271 20746 66057 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonorganic sleeping disorders (more controls excluded) 6.57e-05 -0.1825 0.0457 Malignant neoplasm of lip, oral cavity and pharynx (other cancers excluded from controls) 0.0003207 0.829 0.23 LAMC3 rs137894550 9:131087755:G:A 9 131087755 G A 9:133963142 0.986119 382 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Paroxysmal tachycardia 0.00124 1.4964 0.4634 LAMC3 rs117361076 9:131091620:T:G 9 131091620 T G 9:133967007 0.996879 9003 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Additional codes for the location of defect, injury or illness 0.00035 0.8683 0.2429 Deficiency of other B group vitamins 0.000169 8.951 2.38 NUP214 rs61756081 9:131151751:A:G 9 131151751 A G 9:134027138 0.892429 526 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transient ischemic attack 0.000107 1.0497 0.271 PRRC2B rs199680662 9:131476343:T:G 9 131476343 T G 9:134351730 0.989165 2062 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Communicating hydrocephalus 0.00087 3.2112 0.9645 Benign neoplasm: Short bones of upper limb 0.001813 51.167 16.404 POMT1 rs3887873 9:131510048:C:T 9 131510048 C T 9:134385435 0.999879 47529 LC recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of the skin and subcutaneous tissue 0.000252 -0.0409 0.0112 Acute upper respiratory infections of multiple and unspecified sites 0.0007149 0.099 0.029 POMT1 rs2296949 9:131510049:A:G 9 131510049 A G 9:134385436 0.999698 0.974659 349042 9036 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Effects of foreign body entering through natural orifice 2.31e-05 -0.3519 0.0831 5.178e-05 -0.122 0.03 POMT1 rs10901065 9:131511357:T:C 9 131511357 T C 9:134386744 0.999625 0.974662 349044 9035 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Effects of foreign body entering through natural orifice 2.31e-05 -0.352 0.0832 5.179e-05 -0.122 0.03 POMT1 rs76109289 9:131511372:G:A 9 131511372 G A 9:134386759 0.987591 437 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified vasculitis limited to skin 0.000374 8.5576 2.4055 POMT1 rs4740164 9:131511394:G:A 9 131511394 G A 9:134386781 0.999911 0.0253438 274 9037 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;not specified Effects of foreign body entering through natural orifice 1.67e-05 0.3583 0.0832 Endocarditis 0.0009296 4.707 1.422 POMT1 rs146869947 9:131513282:G:A 9 131513282 G A 9:134388669 0.994181 0.0207383 220 7399 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Walker-Warburg congenital muscular dystrophy;not specified Other bursitis of hip 8.17e-05 1.5707 0.3987 Lagophthalmos 0.0007732 12.279 3.652 POMT1 rs11243406 9:131515483:C:A 9 131515483 C A 9:134390870 0.995929 18326 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;Walker-Warburg congenital muscular dystrophy;not specified Benign neoplasm: Ascending colon (other cancers excluded from controls) 0.000634 -0.3659 0.1071 Unspecified fall 0.001937 3.843 1.24 POMT1 rs150367385 9:131519447:C:G 9 131519447 C G 9:134394834 0.954171 235 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epilepsy 0.000209 1.7906 0.483 POMT1 rs12115566 9:131522077:C:T 9 131522077 C T 9:134397464 0.984587 414 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contusion of toe(s) without damage to nail 0.000314 8.673 2.4069 POMT1 rs147266709 9:131523065:C:T 9 131523065 C T 9:134398452 0.994706 3027 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1;Limb-girdle muscular dystrophy-dystroglycanopathy, type C1;Walker-Warburg congenital muscular dystrophy;not specified Other deformities of toe(s) 0.000699 1.4766 0.4356 Other or unspecified ileus, impaction or obstruction 0.0005877 11.763 3.422 NTNG2 rs56128215 9:132166965:G:A 9 132166965 G A 9:135042352 0.989045 3920 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations and deformations of the musculoskeletal system 0.000206 0.8619 0.2322 Diabetic hypoglycemia 0.003883 2.845 0.985 SETX rs3739927 9:132264439:T:C 9 132264439 T C 9:135139826 0.998552 15001 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia;not provided;not specified Myeloid leukaemia 0.00029 0.9416 0.2598 1.414e-05 0.778 0.179 SETX rs1056899 9:132264514:T:C 9 132264514 T C 9:135139901 0.999868 76309 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Major coronary heart disease event 0.00127 0.0508 0.0158 Other headache syndromes 0.002198 -0.072 0.023 SETX rs2296871 9:132298298:T:C 9 132298298 T C 9:135173685 0.999686 0.162948 9682 50183 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tuberculosis 3.15e-05 0.2641 0.0635 Drug-induced osteoporosis with pathological fracture 0.0001014 1.405 0.361 SETX rs112089123 9:132326938:A:C 9 132326938 A C 9:135202325 0.995614 2582 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis type 4;Ataxia with Oculomotor Apraxia;Spinocerebellar ataxia autosomal recessive 1;not provided;not specified Injuries to the knee and lower leg 0.000178 0.2274 0.0607 Unspecified fall 0.0012 72.175 22.284 SETX rs147018359 9:132326986:G:A 9 132326986 G A 9:135202373 0.98766 665 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormal findings on diagnostic imaging of breast 0.000205 9.8168 2.6444 SETX rs543573 9:132327442:T:C 9 132327442 T C 9:135202829 0.999926 0.837104 257344 50198 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tuberculosis 3.58e-05 -0.2624 0.0635 0.0001276 -0.138 0.036 SETX rs144334281 9:132327789:G:A 9 132327789 G A 9:135203176 0.989482 0.00766492 20 2796 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis type 4;Ataxia with Oculomotor Apraxia;Charcot-Marie-Tooth disease;Spinocerebellar ataxia autosomal recessive 1;not specified Certain disorders involving the immune mechanism 7.76e-05 0.7305 0.1849 Cyst of kidney 0.0001148 27.494 7.129 SETX rs1183768 9:132327844:C:T 9 132327844 C T 9:135203231 0.999933 0.837398 257562 50088 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tuberculosis 4.14e-05 -0.2602 0.0635 0.0001192 -0.218 0.057 SETX rs1185193 9:132328022:A:C 9 132328022 A C 9:135203409 0.999843 0.860891 272182 44099 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tuberculosis 4.91e-05 -0.2756 0.0679 1.015e-05 -0.263 0.06 SETX rs3739922 9:132328143:A:C 9 132328143 A C 9:135203530 0.999961 0.050399 926 17590 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis type 4;Ataxia with Oculomotor Apraxia;Spinocerebellar ataxia autosomal recessive 1;not provided;not specified Fracture of shoulder and upper arm 7.34e-05 0.1957 0.0493 Other and unspecidied mood [affective] disorders 0.0002545 1.713 0.468 SETX rs766869845 9:132328523:T:TTCA 9 132328523 T TTCA 9:135203910 0.958108 0.00744445 28 2707 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Persons encountering health services in other circumstances 6.51e-05 0.5297 0.1326 Other disorders of skin and subcutaneous tissue, not elsewhere classified 0.0003066 11.017 3.052 SETX rs61742937 9:132328623:T:C 9 132328623 T C 9:135204010 0.996339 0.0418604 692 14687 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis type 4;Spinocerebellar ataxia autosomal recessive 1;not provided;not specified Asthma-related acute respiratory infections 5.82e-05 0.0897 0.0223 Benign neoplasm of other and unspecified sites 3.283e-05 3.805 0.916 SETX rs882709 9:132329619:G:C 9 132329619 G C 9:135205006 0.99976 21957 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Dominant;Ataxia with Oculomotor Apraxia;not provided;not specified Other and unspecified injuries of abdomen, lower back and pelvis 0.000135 1.0826 0.2837 Congenital malformations and deformations of the musculoskeletal system 6.782e-05 1.257 0.316 SETX rs145438764 9:132342716:A:C 9 132342716 A C 9:135218103 0.956319 0.00512809 10 1874 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis type 4;Ataxia with Oculomotor Apraxia;Spinocerebellar ataxia autosomal recessive 1;not provided;not specified Urehtritis and urethral syndrome 8.39e-05 3.2725 0.8321 Benign neoplasm of thyroid gland 0.0007577 86.291 25.622 SETX rs79740039 9:132349370:C:T 9 132349370 C T 9:135224757 0.983569 4866 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis type 4;Ataxia with Oculomotor Apraxia;Charcot-Marie-Tooth disease;Spinocerebellar ataxia autosomal recessive 1;not specified Panic disorder 0.000326 0.5489 0.1527 Other reactioin to severe stress, and adjustment disorders 0.001233 1.79 0.554 TSC1 rs118203742 9:132896627:C:T 9 132896627 C T 9:135772014 0.862453 68 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspefcified behauvioural syndromes associated with physiological disturbances and physical factors +Phsyiological and behauvioural factors associated with disorders of diseases classified elsewhere 0.000797 26.1706 7.803 TSC1 rs118203657 9:132903665:G:A 9 132903665 G A 9:135779052 0.999572 0.0146984 108 5292 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Focal cortical dysplasia of Taylor type 2B;Focal cortical dysplasia type II;Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided;not specified Chorioretinal inflammation 7.27e-05 1.5264 0.3848 Bell's palsy 2.622e-05 5.212 1.24 TSC1 rs118203576 9:132905818:T:C 9 132905818 T C 9:135781205 0.996355 0.00949677 32 3457 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal cortical dysplasia type II;Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided;not specified Medial epicondylitis 2.22e-05 1.7378 0.4097 0.0003124 2.778 0.771 TSC1 rs1073123 9:132911517:A:G 9 132911517 A G 9:135786904 0.999763 34877 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vitamin B12 deficiency anaemia 0.000851 -0.2111 0.0633 Other disorders of prostate 0.0003725 0.975 0.274 TSC1 rs199620268 9:132925604:A:C 9 132925604 A C 9:135800991 0.992679 493 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autism spectrum disorder;Focal cortical dysplasia type II;Hereditary cancer-predisposing syndrome;Tuberous sclerosis 1;Tuberous sclerosis syndrome;not provided;not specified Disorders of psychological developtment 0.000637 2.0863 0.6108 Other bursitis of hip 0.0005094 152.808 43.964 GFI1B rs143926538 9:132988251:C:T 9 132988251 C T 9:135863638 0.986696 520 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erectile dysfunction 0.0011 2.5538 0.7823 RALGDS rs140573248 9:133108786:T:C 9 133108786 T C 9:135984173 0.98386 1462 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary parkinsonism (more controls excluded) 0.000213 3.4936 0.9436 SURF1 rs72619327 9:133352593:C:G 9 133352593 C G 9:136219448 0.993852 356 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Oligomenorrhoea 0.00125 4.2872 1.3282 SURF1 rs782420522 9:133352705:G:C 9 133352705 G C 9:136219560 0.947019 0.00179647 4 656 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Osteomyelitis 3.57e-05 3.7586 0.9093 0.0005376 137.982 39.864 SURF1 rs116779216 9:133354897:G:C 9 133354897 G C 9:136221752 0.985783 374 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic Coagulation defects 0.00364 6.1129 2.1025 ADAMTS13 rs34024143 9:133422462:C:T 9 133422462 C T 9:136287582 0.996188 39884 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Venous thromboembolism 0.000236 -0.1003 0.0273 DVT of lower extremities 5.635e-05 -0.286 0.071 ADAMTS13 rs149517360 9:133432616:C:G 9 133432616 C G 9:136297737 0.992149 1282 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Ascending colon (other cancers excluded from controls) 0.000104 1.7737 0.4571 0.0006586 -1.389 0.408 ADAMTS13 rs2301612 9:133436862:C:G 9 133436862 C G 9:136301982 0.999404 92019 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 0.000601 -0.0333 0.0097 Other assisted single delivery 0.0001217 0.401 0.104 ADAMTS13 rs36220240 9:133436890:C:T 9 133436890 C T 9:136302010 0.957763 0.00436323 2 1601 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Actinic keratosis 2.89e-05 0.8685 0.2077 ADAMTS13 rs11575933 9:133436943:C:T 9 133436943 C T 9:136302063 0.977441 2323 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Upshaw-Schulman syndrome;not provided;not specified Benign neoplasm: Rectum, anus and anal canal (other cancers excluded from controls) 0.00039 0.7786 0.2195 Haemmorrhoids and perianal venous thrombosis 0.0001481 6.906 1.82 ADAMTS13 rs28647808 9:133440409:C:G 9 133440409 C G 9:136305530 0.994442 22354 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Upshaw-Schulman syndrome;not specified Malignant neoplasm of prostate 0.000869 0.1539 0.0462 Asthma mixed form (mode) (more controls excluded) 0.0002988 1.409 0.39 ADAMTS13 rs41314453 9:133442704:C:T 9 133442704 C T 9:136307825 0.994316 4384 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Retinal haemorrhage 0.000134 2.1435 0.5612 Retinal haemorrhage 0.0001259 27.676 7.218 ADAMTS13 rs685523 9:133445787:C:T 9 133445787 C T 9:136310908 0.989693 37335 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colectomy operation 0.000203 -0.2203 0.0593 Disorders of parathyroid gland 0.001146 0.292 0.09 ADAMTS13 rs28503257 9:133454467:G:A 9 133454467 G A 9:136319589 0.995348 22116 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Upshaw-Schulman syndrome;not specified Enteropathic arthropathies 0.000232 0.7446 0.2023 Myeloid leukaemia 0.001213 2.177 0.673 ADAMTS13 rs142572218 9:133454548:C:T 9 133454548 C T 9:136319670 0.970092 0.000408288 0 150 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Lichen sclerosus et atrophicus 4.89e-05 7.468 1.839 ADAMTS13 rs61751476 9:133455322:G:A 9 133455322 G A 9:136320444 0.940751 1783 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Upshaw-Schulman syndrome;not provided;not specified Other specified disorders of muscle 0.00062 2.1382 0.6247 Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system 0.0002888 192.951 53.226 DBH rs76856960 9:133636447:G:A 9 133636447 G A 9:136501569 0.981537 3245 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Outcome of delivery 0.00031 0.4506 0.1249 Inflammatory diseases of the central nervous system 0.001573 8.354 2.643 DBH rs77273740 9:133636606:C:T 9 133636606 C T 9:136501728 0.977463 0.0496668 970 17277 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dopamine beta hydroxylase deficiency Hypertension 5.17e-13 -0.1657 0.023 Hypertension 1.969e-05 -0.292 0.068 DBH rs3025380 9:133636634:G:C 9 133636634 G C 9:136501756 0.912626 0.0011296 2 413 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Osteoporosis 7.79e-05 2.1047 0.5327 DBH rs74853476 9:133636712:T:C 9 133636712 T C 9:136501834 0.866869 118 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications following abortion and ectopic and molar pregnancy 0.000603 26.7546 7.8001 DBH rs45465204 9:133642322:A:G 9 133642322 A G 9:136507444 0.99413 2559 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dopamine beta hydroxylase deficiency Tarsal tunnel syndrome 0.00042 3.7153 1.0534 Anoxic brain damage 0.001121 77.703 23.848 DBH rs5320 9:133642351:G:A 9 133642351 G A 9:136507473 0.996202 18171 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dopamine beta hydroxylase deficiency Varicose veins 0.000246 0.1185 0.0323 Alzheimer's disease (Late onset) 1.35e-05 0.977 0.225 DBH rs201681337 9:133643569:G:A 9 133643569 G A 9:136508691 0.93798 792 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Panniculitis affecting regions of neck and back 0.000199 3.2164 0.8646 DBH rs4531 9:133644248:G:T 9 133644248 G T 9:136509370 0.990404 17615 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dopamine beta hydroxylase deficiency Disorders of brain, other and unspecified 0.000119 1.2909 0.3355 Congenital malformations of aortic and mitral valves 0.0004569 2.794 0.797 DBH rs75215331 9:133647906:C:T 9 133647906 C T 9:136513028 0.987683 2011 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dopamine beta hydroxylase deficiency Polyarthropathies 0.00216 -0.306 0.0997 Crushing injury of wrist and hand 0.0002581 265.287 72.601 DBH rs41316996 9:133656532:G:A 9 133656532 G A 9:136521654 0.981432 129 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiac arrest 0.000435 7.57 2.1517 DBH rs6271 9:133657152:C:T 9 133657152 C T 9:136522274 0.98445 0.0663794 1684 22703 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dopamine beta hydroxylase deficiency Hypertension 5.37e-07 -0.1007 0.0201 Obesity due to excess calories 0.001242 0.395 0.122 DBH rs148806316 9:133658412:C:T 9 133658412 C T 9:136523534 0.96974 0.0238358 234 8523 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypotension 3.46e-05 0.5459 0.1318 Other disorders of breast and lactation associated with childbirth 0.001028 10.293 3.135 COL5A1 rs41306397 9:134699909:C:T 9 134699909 C T 9:137591755 0.983328 959 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified Unspecified fall 0.000858 6.5233 1.957 Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs 0.001639 54.305 17.246 COL5A1 rs147589613 9:134699972:C:A 9 134699972 C A 9:137591818 0.978849 243 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acquired haemolytic anaemia 0.000973 9.92 3.0076 COL5A1 rs145178917 9:134700009:G:T 9 134700009 G T 9:137591855 0.945768 0.00756693 16 2764 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not specified Spinal enthesopathy 1.17e-05 1.9762 0.4509 Spondylosis 0.0004558 5.132 1.464 COL5A1 rs138579182 9:134701253:G:A 9 134701253 G A 9:137593099 0.991893 0.0443183 726 15556 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not provided;not specified Benign neoplasm of ovary (other cancers excluded from controls) 2.75e-05 -0.3026 0.0722 Abnormal results of function studies 7.146e-05 2.187 0.551 COL5A1 rs61735045 9:134750808:G:A 9 134750808 G A 9:137642654 0.997931 0.0318954 382 11336 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Connective tissue disorder;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not provided;not specified Postmenopausal osteoporosis with pathological fracture 6.66e-05 0.7955 0.1995 0.001086 1.503 0.46 COL5A1 rs61736966 9:134796855:A:G 9 134796855 A G 9:137688701 0.995919 2867 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not provided;not specified Undetermined asthma (more controls excluded) 0.000274 0.8422 0.2314 Other orthopaedic follow-up care 0.000608 13.037 3.803 COL5A1 rs771807198 9:134805045:G:A 9 134805045 G A 9:137696891 0.815026 354 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ischaemic heart disease, wide definition 0.000551 0.6711 0.1943 COL5A1 rs368305377 9:134810271:C:T 9 134810271 C T 9:137702117 0.871779 0.000187812 0 69 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other diseases of anus and rectum 6.38e-06 5.7587 1.2759 COL5A1 rs61739195 9:134817038:C:T 9 134817038 C T 9:137708884 0.977354 2061 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ehlers-Danlos syndrome, classic type;Ehlers-Danlos syndrome, type 7A;not provided;not specified Optic neuritis 0.000748 1.7432 0.517 3.268e-05 2.771 0.667 LCN1 rs117638349 9:135523885:G:C 9 135523885 G C 9:138415731 0.947846 1370 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oesophagitis 0.000468 1.9191 0.5485 DVT of lower extremities 0.0008515 9.602 2.879 PAEP rs143616209 9:135565794:G:A 9 135565794 G A 9:138457640 0.906807 2105 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Evidence of alcohol involvement determined by blood alcohol level 0.000616 3.8594 1.127 7.155e-07 1.889 0.381 SOHLH1 rs140132974 9:135697628:C:T 9 135697628 C T 9:138589474 0.996111 0.0137239 66 4976 pLoF both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic polyneuropathy 9.45e-05 1.6849 0.4316 Other arterial embolism and thrombosis 0.0002113 21.657 5.845 KCNT1 rs143355299 9:135770966:A:G 9 135770966 A G 9:138662812 0.99154 1597 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;not provided;not specified Problems related to social environment 0.000632 2.5958 0.7596 Volvulus 0.0008001 99.501 29.677 KCNT1 rs61744696 9:135772916:C:T 9 135772916 C T 9:138664762 0.979713 9789 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;Seizures;not specified Hypertrophic disorders of skin 0.000841 0.5942 0.178 Divergent concomitant strabismus 0.0002078 2.587 0.697 KCNT1 rs149804567 9:135778444:A:G 9 135778444 A G 9:138670290 0.936094 251 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Crohn disease 0.00154 2.7967 0.8831 KCNT1 rs200250181 9:135786258:G:T 9 135786258 G T 9:138678104 0.958635 441 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary hypertension 0.00285 2.2224 0.7448 KCNT1 rs200642629 9:135786314:C:T 9 135786314 C T 9:138678160 0.892722 785 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pregnancy, childbirth and the puerperium 0.00027 0.3981 0.1093 KCNT1 rs138421850 9:135786407:G:A 9 135786407 G A 9:138678253 0.961707 0.0115001 44 4181 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Early infantile epileptic encephalopathy 14;Epilepsy, nocturnal frontal lobe, 5;Seizures;not provided;not specified Conductive hearing loss, unspecified 3.48e-05 0.9523 0.2301 Abnormal results of function studies 0.000804 11.52 3.437 CAMSAP1 rs187172909 9:135882892:C:T 9 135882892 C T 9:138774738 0.972931 780 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Effects of foreign body entering through natural orifice 0.000541 1.031 0.298 Erythema multiforme 0.0001584 244.86 64.821 UBAC1 rs142001879 9:135955409:G:A 9 135955409 G A 9:138847255 0.996168 6057 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Special screening examination for other diseases and disorders 0.000269 0.5818 0.1597 Benign neoplasm: Ascending colon (other cancers excluded from controls) 8.509e-05 10.29 2.618 LHX3 rs375579333 9:136203032:G:A 9 136203032 G A 9:139094878 0.886114 0.000740362 2 270 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders starting during childhood or adolecense (more controls excluded) 6.19e-05 8.6166 2.1511 CARD9 rs141992399 9:136365140:C:G 9 136365140 C G 9:139259592 0.946162 0.00114321 0 420 pLoF recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at hip and thigh level 1.34e-05 4.3487 0.9988 CARD9 rs3124993 9:136367753:C:G 9 136367753 C G 9:139262205 0.969717 4226 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Candidiasis, familial, 2;Familial Candidiasis, Recessive Benign neoplasm: Ascending colon 0.000113 0.9068 0.2349 Duodenal ulcer 0.0002318 7.545 2.05 CARD9 rs114895119 9:136370436:T:A 9 136370436 T A 9:139264888 0.916041 909 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Candidiasis, familial, 2;Familial Candidiasis, Recessive Bacterial pneumonia (organism specified) 0.000424 0.709 0.2011 Chronic lymphocytic leukaemia 0.001831 135.258 43.403 CARD9 rs761369989 9:136370886:C:G 9 136370886 C G 9:139265338 0.951555 0.000628763 0 231 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pregnancy, childbirth and the puerperium 9.36e-05 -0.7399 0.1894 CARD9 rs4077515 9:136372044:C:T 9 136372044 C T 9:139266496 0.998811 0.416761 64328 88785 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory bowel disease, strict (require KELA) 1.72e-05 0.1216 0.0283 1.202e-06 0.123 0.025 PMPCA rs148940590 9:136414579:C:T 9 136414579 C T 9:139309031 0.975707 786 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of cerebrovascular disease 0.00131 0.8935 0.2781 PMPCA rs376902658 9:136421985:C:T 9 136421985 C T 9:139316437 0.955577 395 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma mixed form (mode) (more controls excluded) 0.000691 3.7476 1.1045 INPP5E rs147967974 9:136430349:G:C 9 136430349 G C 9:139324801 0.987925 15529 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Joubert syndrome;not provided Problems related to employment and unemployment 0.000429 0.8122 0.2307 Other and unspecified intracranial injuries 8.897e-05 4.132 1.054 INPP5E rs199873582 9:136434801:C:T 9 136434801 C T 9:139329253 0.952304 156 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Behavioural syndromes associated with physiological disturbances and physical factors 0.000725 2.4328 0.7198 INPP5E rs36064831 9:136438817:G:C 9 136438817 G C 9:139333269 0.99706 2584 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;not specified Hereditary retinal dystrophy 0.000627 2.9027 0.8488 Other specified/unspecified inflammatory spondylopathies 0.0005389 12.853 3.714 INPP5E rs372412898 9:136438866:A:T 9 136438866 A T 9:139333318 0.948755 248 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Adult respiratory distress syndrome 0.00194 13.3085 4.2942 SEC16A rs45519739 9:136451395:G:A 9 136451395 G A 9:139345847 0.98676 0.0211656 206 7570 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with ketoacidosis 9.16e-06 1.5115 0.3407 Oesophagitis 0.0007542 4.567 1.356 SEC16A rs11788702 9:136474639:C:T 9 136474639 C T 9:139369091 0.984106 0.000664148 4 240 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Campylobacter enteritis 3.32e-05 11.9254 2.8732 Campylobacter enteritis 0 99.163 0 NOTCH1 rs61751489 9:136496886:C:T 9 136496886 C T 9:139391338 0.975482 2722 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adams-Oliver syndrome 5;Cardiovascular phenotype;not specified Type 2 diabetes, definitions combined 0.000182 -0.2615 0.0699 Nerve, nerve root and plexus disorders 0.002238 2.201 0.72 NOTCH1 rs367838230 9:136504720:G:C 9 136504720 G C 9:139399172 0.972649 201 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Keratoconus 0.000643 11.4313 3.3495 NOTCH1 rs61751542 9:136505767:G:A 9 136505767 G A 9:139400219 0.989514 1787 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adams-Oliver syndrome 5;Cardiovascular phenotype;not specified Spinal osteochondrosis 0.00083 3.5341 1.0573 6.469e-05 1.287 0.322 NOTCH1 rs150343794 9:136505847:C:A 9 136505847 C A 9:139400299 0.808904 0.000519886 0 191 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bacterial pneumoniae 4.68e-05 2.1714 0.5334 NOTCH1 rs61751543 9:136506781:C:T 9 136506781 C T 9:139401233 0.993105 7308 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adams-Oliver syndrome 5;Cardiovascular phenotype;not specified Other and unspecified paralytic syndromes 0.000336 1.7477 0.4874 Dementia in Alzheimer disease 0.0005124 3.396 0.978 NOTCH1 rs200207651 9:136508926:C:T 9 136508926 C T 9:139403378 0.969434 1551 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adams-Oliver syndrome 5;Cardiovascular phenotype Other special examinations and investigations of persons without complaint or reported diagnosis 0.000375 0.2313 0.065 Peptic ulcer 0.0005623 136.959 39.708 NOTCH1 rs201620358 9:136510659:G:A 9 136510659 G A 9:139405111 0.964102 950 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Calcaneal spur 4e-04 5.8697 1.658 NOTCH1 rs35136134 9:136511197:C:T 9 136511197 C T 9:139405649 0.976594 587 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disturbance of activity and attention 0.000144 3.7031 0.9741 NOTCH1 rs138504021 9:136515524:C:T 9 136515524 C T 9:139409976 0.974836 378 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bursitis of shoulder 0.000612 7.1925 2.0993 NOTCH1 rs376902925 9:136522961:T:C 9 136522961 T C 9:139417413 0.835982 772 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other disorders of cornea 0.000685 2.0992 0.6182 EGFL7 rs146989870 9:136669935:G:A 9 136669935 G A 9:139564387 0.93 332 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic ileus 0.00019 7.0359 1.8855 AGPAT2 rs142993240 9:136676978:G:A 9 136676978 G A 9:139571430 0.928608 836 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of other and unspecified endocrine glands 0.00125 1.5523 0.4811 AGPAT2 rs758336307 9:136687306:C:CCAG 9 136687306 C CCAG 9:139581758 0.973215 17876 inframe_indel recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services in circumstances related to reproduction 0.000441 -0.0833 0.0237 Coxarthrosis, primary, with hip surgery 0.002046 0.414 0.134 RABL6 rs200704265 9:136837375:G:A 9 136837375 G A 9:139731827 0.936414 1508 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Calcaneal spur 0.00072 3.971 1.1743 Faecal incontinence 5.953e-05 27.367 6.817 RABL6 rs201855651 9:136839044:G:C 9 136839044 G C 9:139733496 0.963091 508 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasms of uterus 0.000871 2.605 0.7825 RABL6 rs201053581 9:136839399:C:T 9 136839399 C T 9:139733851 0.910679 399 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol-induced chronic pancreatitis 0.00021 4.398 1.1864 PHPT1 rs149603224 9:136849547:G:C 9 136849547 G C 9:139743999 0.968666 2250 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of other internal prosthetic devices, implants and grafts 0.00114 2.0886 0.642 Lagophthalmos 0.0005774 124.933 36.297 ABCA2 rs147917446 9:137014012:C:A 9 137014012 C A 9:139908464 0.912841 1471 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified acute skin changes due to ultraviolet radiation 0.000338 2.8321 0.7901 Pain in throat and chest 0.000188 2.802 0.75 MAN1B1 rs149322865 9:137088159:A:C 9 137088159 A C 9:139982611 0.963354 322 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy 0.00216 1.8239 0.5948 MAN1B1 rs115335100 9:137088887:A:G 9 137088887 A G 9:139983339 0.993429 8532 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter History of neurodevelopmental disorder;Intellectual Disability, Recessive Disorders of mineral metabolism 0.000293 0.6731 0.1858 Other arrhytmias 0.001566 0.672 0.213 MAN1B1 rs61744585 9:137096361:C:T 9 137096361 C T 9:139990813 0.986383 2962 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Intellectual Disability, Recessive;Mental retardation, autosomal recessive 15;not specified Benign neoplasm: Pituitary gland, craniopharyngeal duct (other cancers excluded from controls) 0.00117 1.1557 0.3561 4.086e-05 1.554 0.379 MAN1B1 rs186504463 9:137097842:T:G 9 137097842 T G 9:139992294 0.966129 614 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter History of neurodevelopmental disorder;Intellectual Disability, Recessive;Mental retardation, autosomal recessive 15;not provided;not specified Heterophoria 0.000216 2.7644 0.7473 Acute appendicitis, no complications 0.001222 7.297 2.257 MAN1B1 rs138658585 9:137106303:A:G 9 137106303 A G 9:140000755 0.914645 3826 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter History of neurodevelopmental disorder;Intellectual Disability, Recessive;not provided;not specified Carrier of infectious disease 0.00159 1.9182 0.6074 Other abnormal uterine and caginal bleeding 0.0006607 2.66 0.781 MAN1B1 rs149339002 9:137106742:G:A 9 137106742 G A 9:140001194 0.993408 8554 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of mineral metabolism 0.000308 0.6694 0.1855 Other arrhytmias 0.001232 0.7 0.217 MAN1B1 rs4880091 9:137108537:T:C 9 137108537 T C 9:140002989 0.99281 79764 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetic retinopathy 0.000447 -0.1052 0.03 Hypertensive Renal Disease 0.0004632 0.185 0.053 MAN1B1 rs118117962 9:137108543:C:T 9 137108543 C T 9:140002995 0.925195 9869 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Intellectual Disability, Recessive;Mental retardation, autosomal recessive 15;not specified Symptoms and signs involving speech and voice 0.000722 0.2461 0.0728 Other abnormal uterine and caginal bleeding 0.0002255 0.907 0.246 MAN1B1 rs4567 9:137108975:A:G 9 137108975 A G 9:140003427 0.985254 89985 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of lacrimal gland 0.000184 -0.0949 0.0254 Complications predominantly related to the puerperium 0.000207 -0.109 0.029 TPRN rs139459217 9:137192669:T:C 9 137192669 T C 9:140087121 0.988225 3391 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Disorders of lacrimal system and orbit in diseases classified elsewhere 0.00103 1.5572 0.4744 Disorders of eyelid, lacrimal system and orbit 0.001029 1.683 0.513 TPRN rs138547889 9:137199139:G:A 9 137199139 G A 9:140093591 0.98234 914 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hernia 0.000227 -0.4364 0.1184 SLC34A3 rs34372115 9:137232599:G:A 9 137232599 G A 9:140127051 0.876108 0.0785546 2380 26480 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Persons encountering health services for examination and investigation 4.97e-06 0.0611 0.0134 Problems related to social environment 0.0001418 1.937 0.509 SLC34A3 rs35643193 9:137233094:G:C 9 137233094 G C 9:140127546 0.979832 4079 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Angina pectoris 0.000109 -0.2786 0.072 Gonarthrosis,primary 0.0001833 1.318 0.352 SLC34A3 rs145877051 9:137233357:G:A 9 137233357 G A 9:140127809 0.857837 431 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Transient global amnesia 0.000116 3.2525 0.8438 Panic disorder 0.001617 44.246 14.034 SLC34A3 rs142918575 9:137233655:G:A 9 137233655 G A 9:140128107 0.985566 0.0100874 50 3656 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm of meninges (other cancers excluded from controls) 1.1e-05 1.1359 0.2584 Colectomy operation 5.629e-06 11.593 2.554 SLC34A3 rs201964796 9:137233657:A:G 9 137233657 A G 9:140128109 0.979165 0.00244156 2 895 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Adult respiratory distress syndrome 7.49e-05 9.0774 2.2922 SLC34A3 rs35699762 9:137234192:G:A 9 137234192 G A 9:140128644 0.902614 2954 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diseases of middle ear and mastoid 0.00019 0.3252 0.0871 Other and unspecified hydrocephalus 1.845e-05 59.304 13.847 SLC34A3 rs138872455 9:137236070:G:A 9 137236070 G A 9:140130522 0.921192 2701 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other abnormal findings in urine 0.000365 3.3061 0.9276 0.000831 -8.75 2.618 SLC34A3 rs28542318 9:137236154:A:T 9 137236154 A T 9:140130606 0.894565 0.756154 210674 67128 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coronary revascularization (ANGIO or CABG) 5.2e-05 -0.0898 0.0222 Coronary revascularization (ANGIO or CABG) 0.0001103 -0.054 0.014 SLC34A3 rs140639805 9:137236201:A:T 9 137236201 A T 9:140130653 0.902886 2684 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other abnormal findings in urine 0.000346 3.3504 0.9364 0.001266 -8.529 2.646 STPG3 rs28657439 9:137252108:A:G 9 137252108 A G 9:140146560 0.973687 1476 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholelithiasis 0.00071 -0.3684 0.1088 STPG3 rs544669429 9:137253370:GATGCACCCTTCTGGCTGGCCAACCCTTCT:G 9 137253370 GATGCACCCTTCTGGCTGGCCAACCCTTCT G 9:140147822 0.9037 9081 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of mineral metabolism 0.000112 0.7325 0.1897 Infective dermatitis 0.0004567 2.657 0.758 EXD3 rs35097575 9:137349428:G:A 9 137349428 G A 9:140243880 0.888596 0.0651736 1618 22326 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Disorders of breast 2.46e-05 0.1568 0.0372 Diabetic maculopathy 9.766e-05 0.95 0.244 EHMT1 rs142887098 9:137716791:G:A 9 137716791 G A 9:140611243 0.97018 1323 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chromosome 9q deletion syndrome;History of neurodevelopmental disorder;not specified Schizoaffective disorder 0.00015 1.5145 0.3994 Hypermobility syndrome 1.171e-05 61.991 14.144 EHMT1 rs11137198 9:137744082:G:A 9 137744082 G A 9:140638534 0.988225 8124 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chromosome 9q deletion syndrome;History of neurodevelopmental disorder;not specified Other metabolic disorders 0.000761 0.4885 0.1451 Malignant neoplasm of prostate (other cancers excluded from controls) 0.0001253 1.404 0.366 CACNA1B rs145816559 9:138023718:TGGAGAAGGAGACCAC:T 9 138023718 TGGAGAAGGAGACCAC T 9:140918170 0.997 43124 inframe_indel dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Childhood asthma (age<16) 0.00103 0.1564 0.0477 Other specified/unspecified spondylopathies 0.000143 0.933 0.245 CACNA1B rs11137342 9:138023729:A:G 9 138023729 A G 9:140918181 0.998182 2453 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pericarditis 0.000264 1.9323 0.5296 Lichen planus 0.0003438 15.546 4.343 CACNA1B rs41290003 9:138121868:G:A 9 138121868 G A 9:141016320 0.981071 926 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of binocular movement 0.000272 5.029 1.3813 Behavioural disorders 0.0008622 88.87 26.672 ADARB2 rs191180422 10:1363207:C:T 10 1363207 C T 10:1405402 0.945287 1666 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizophrenia or delusion (more controls excluded) 0.000139 0.8384 0.2201 0.0002399 1.57 0.428 PFKP rs41288721 10:3119938:A:G 10 3119938 A G 10:3162130 0.869914 1205 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility, cervigal, vaginal, other or unspecified origin 0.000956 0.668 0.2022 Benign neoplasm: Adrenal gland 0.0005924 105.462 30.701 PITRM1 rs2279219 10:3138965:G:C 10 3138965 G C 10:3181157 0.988834 494 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of digestive organs 0.000142 1.2673 0.3331 PITRM1 rs71477812 10:3140811:G:A 10 3140811 G A 10:3183003 0.990003 7536 missense_variant unknown not provided not_provided no assertion provided none Hyperplasia of prostate 0.000342 -0.2262 0.0632 Other symptoms and signs involving the circulatory and respiratory systems 0.002124 4.671 1.52 PITRM1 rs202029537 10:3158932:T:A 10 3158932 T A 10:3201124 0.957691 1592 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperfunction of pituitary gland 0.000464 1.749 0.4996 Effects of other external causes 0.0005676 193.873 56.25 AKR1E2 rs61745201 10:4830738:G:A 10 4830738 G A 10:4872930 0.996024 0.0929671 3236 30919 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other retinal artery occlusion 3.95e-05 0.7369 0.1793 Benign neoplasm: Connective and other soft tissue of lower limb, including hip (other cancers excluded from controls) 0.001319 1.253 0.39 AKR1C1 rs142200840 10:4972743:C:A 10 4972743 C A 10:5014935 0.95889 0.00404205 10 1475 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glomerular diseases 1.67e-05 0.9746 0.2264 Third [oculomotor] nerve palsy 0.0009665 81.871 24.809 IL15RA rs41294171 10:5963793:G:A 10 5963793 G A 10:6005756 0.911846 308 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Stomach (other cancers excluded from controls) 0.000586 3.503 1.0189 IL2RA rs72650666 10:6024339:G:A 10 6024339 G A 10:6066302 0.989519 3643 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Interleukin 2 receptor, alpha, deficiency of;not provided Diabetic maculopathy (more controls excluded) 0.000248 0.7513 0.2051 Counselling related to sexual attitude, behaviour and orientation 0.000695 118.234 34.861 PRKCQ rs2236379 10:6485181:G:A 10 6485181 G A 10:6527143 0.995879 0.195412 13964 57828 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Conduct disorder 4.93e-05 0.4428 0.1091 Behavioural disorders (more controls excluded) 0.0002134 0.714 0.193 SFMBT2 rs117741182 10:7248643:C:T 10 7248643 C T 10:7290605 0.950665 251 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of respiratory system and intrathoracic organs 0.00011 3.1005 0.8015 ITIH5 rs148811531 10:7576593:C:T 10 7576593 C T 10:7618556 0.904869 713 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormalities of plasma proteins 0.000201 9.4351 2.5383 PROSER2 rs148688412 10:11852196:G:A 10 11852196 G A 10:11894195 0.942229 727 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter GI-bleeding 0.000395 0.995 0.2808 Spondylolisthesis/Spondylolysis 0.006593 15.634 5.755 PROSER2 rs202165239 10:11869742:C:T 10 11869742 C T 10:11911741 0.991701 288 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 0.000498 1.8715 0.5375 UPF2 rs118004016 10:12001769:C:G 10 12001769 C G 10:12043768 0.966935 800 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholelithiasis 0.000702 0.4842 0.1429 DHTKD1 rs146741810 10:12087640:G:T 10 12087640 G T 10:12129639 0.990047 480 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enterocolitis due to Clostridium difficile 0.000329 2.598 0.7235 DHTKD1 rs147571909 10:12091604:T:C 10 12091604 T C 10:12133603 0.898924 317 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Meningitis 0.000272 4.0437 1.1108 CDC123 rs149366829 10:12230999:A:C 10 12230999 A C 10:12272998 0.948074 142 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transient ischemic attack 0.00124 1.8614 0.5762 CAMK1D rs34194224 10:12553330:A:G 10 12553330 A G 10:12595329 0.945926 878 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Poisoning by medicine 0.000546 1.0632 0.3075 OPTN rs11258194 10:13110400:T:A 10 13110400 T A 10:13152400 0.987337 8674 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Recessive;Glaucoma 1, open angle, e;Glaucoma, normal tension, susceptibility to;Primary open angle glaucoma;not provided;not specified Other intracranial haemorrhages 0.000788 1.1114 0.3311 Impetigo 0.0004653 6.342 1.812 UCMA rs41291317 10:13233764:A:G 10 13233764 A G 10:13275764 0.980589 3698 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasms of skin 0.000367 -0.3641 0.1022 Subacute thyroiditis 4.198e-05 42.262 10.317 PHYH rs566116760 10:13278305:A:AGAT 10 13278305 A AGAT 10:13320305 0.991511 1206 inframe_indel recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic cleft lip palate;Phytanic acid storage disease;not provided Disturbances of skin sensation 0.000154 0.9615 0.2541 Acute lymphadenitis 0.00414 25.274 8.815 PHYH rs62619919 10:13283784:C:T 10 13283784 C T 10:13325784 0.999284 7807 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic cleft lip palate;Phytanic acid storage disease;not specified Benign neoplasm: Tongue 0.000856 1.0341 0.3102 Toxic liver disease 0.0004046 16.636 4.703 PHYH rs143957922 10:13288437:G:C 10 13288437 G C 10:13330437 0.970835 0.00226464 0 832 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Follow-up examination after treatment for conditions other than malignant neoplasms 4.5e-05 -0.7129 0.1747 PHYH rs28938169 10:13298236:G:A 10 13298236 G A 10:13340236 0.999491 64362 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Haemangioma, any site (other cancers excluded from controls) 0.000116 -0.2224 0.0577 Other and unspecified trigeminal disorders 0.001767 0.553 0.177 DCLRE1C rs750692726 10:14908817:G:A 10 14908817 G A 10:14950816 0.984505 385 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at forearm level 0.00361 6.1902 2.1271 DCLRE1C rs12768894 10:14932906:T:C 10 14932906 T C 10:14974905 0.995557 47484 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute bronchitis 0.0029 0.0803 0.0269 Other specific arthropathies 0.00118 0.75 0.231 DCLRE1C rs35441642 10:14934728:G:C 10 14934728 G C 10:14976727 0.987211 19882 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Histiocytic medullary reticulosis;Severe combined immunodeficiency disease;not specified Other aneurysm 0.000112 0.5792 0.1499 Hyperaldosteronism 3.561e-05 3.058 0.74 DCLRE1C rs41297018 10:14935470:C:T 10 14935470 C T 10:14977469 0.976822 3157 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Severe combined immunodeficiency with sensitivity to ionizing radiation;not provided;not specified Benign neoplasm: Colon, unspecified (other cancers excluded from controls) 0.00131 -0.5098 0.1586 Acute peritonitis 0.0003122 17.929 4.974 PTER rs76119360 10:16486529:C:T 10 16486529 C T 10:16528528 0.986344 2228 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck (other cancers excluded from controls) 0.000253 1.3386 0.3658 Nausea and vomiting 5.613e-05 10.181 2.527 CUBN rs1801232 10:16828913:G:T 10 16828913 G T 10:16870912 0.99544 41740 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumothorax 0.00127 0.2768 0.0859 Other specified/unspecified disorders of bone/cartilage 0.001565 0.727 0.23 CUBN rs1801230 10:16835111:G:A 10 16835111 G A 10:16877110 0.930314 4063 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megaloblastic anemia;Megaloblastic anemia due to inborn errors of metabolism;not provided Hypertrophy of breast 0.000887 0.5615 0.1689 Type 1 diabetes, strict (exclude DM2) 0.0005798 4.257 1.237 CUBN rs117035284 10:16869750:C:T 10 16869750 C T 10:16911749 0.995436 3518 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megaloblastic anemia due to inborn errors of metabolism;not specified Benign neoplasm: Pancreas (other cancers excluded from controls) 0.00108 2.6258 0.8034 0.0008929 5.1 1.535 CUBN rs1801240 10:16876998:T:C 10 16876998 T C 10:16918997 0.996846 27517 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Megaloblastic anemia Deficiency of other B group vitamins 0.00019 0.6552 0.1755 Open wound of wrist and hand 0.002506 -0.257 0.085 CUBN rs1801239 10:16877053:T:C 10 16877053 T C 10:16919052 0.998767 27591 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megaloblastic anemia;not specified Deficiency of other B group vitamins 0.000199 0.6518 0.1752 Open wound of wrist and hand 0.002417 -0.257 0.085 CUBN rs45569534 10:16888420:C:G 10 16888420 C G 10:16930419 0.978786 7009 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Megaloblastic anemia;Megaloblastic anemia due to inborn errors of metabolism Viral pneumonia (known virus, not influenza) 0.000422 0.8897 0.2523 Hypothyroidism (congenital or acquired) 0.001367 -0.775 0.242 CUBN rs45551835 10:16890385:G:A 10 16890385 G A 10:16932384 0.974372 3610 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megaloblastic anemia;Megaloblastic anemia due to inborn errors of metabolism Abnormal findings on diagnostic imaging of other body structures 0.000105 0.9988 0.2575 Calculus of lower urinary tract 0.0004825 12.886 3.692 CUBN rs1801238 10:16890491:G:T 10 16890491 G T 10:16932490 0.997669 10833 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Megaloblastic anemia Burn and corrosion of shoulder and upper limb, except wrist and hand 0.00171 0.9969 0.3178 Campylobacter enteritis 0.0006225 5.781 1.69 CUBN rs3740168 10:16906391:G:C 10 16906391 G C 10:16948390 0.991362 0.0113286 44 4118 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megaloblastic anemia;Megaloblastic anemia due to inborn errors of metabolism Subjective visual disturbances 4.94e-05 0.5955 0.1467 Leiomyoma of uterus (other cancers excluded from controls) 0.001227 1.692 0.523 CUBN rs117128556 10:16913979:A:T 10 16913979 A T 10:16955978 0.998031 0.00784185 18 2863 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Megaloblastic anemia Vasculitis limited to skin, not elsewhere classified 2.5e-05 2.9032 0.6889 Behavioural disorders (more controls excluded) 0.0009039 88.981 26.811 CUBN rs41301097 10:16915037:A:G 10 16915037 A G 10:16957036 0.980214 0.000745806 0 274 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Long bones of lower limb (other cancers excluded from controls) 8.15e-05 8.3983 2.1316 CUBN rs144360241 10:16925418:T:C 10 16925418 T C 10:16967417 0.989853 4432 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism,other/unspecified 0.00109 -0.1794 0.0549 Other medical care 0.0001473 5.029 1.325 CUBN rs62619939 10:16925587:C:G 10 16925587 C G 10:16967586 0.993104 41084 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyspnoea 0.000263 -0.073 0.02 Umbilical hernia 0.0002791 0.263 0.072 CUBN rs150392211 10:16933120:T:C 10 16933120 T C 10:16975119 0.932903 281 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gluteal tendinitis 0.000288 8.8814 2.4495 CUBN rs140202552 10:16933191:G:A 10 16933191 G A 10:16975190 0.938778 94 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Behavioural disorders (more controls excluded) 0.000134 18.0414 4.7236 CUBN rs41289303 10:16937594:G:A 10 16937594 G A 10:16979593 0.988574 17214 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Megaloblastic anemia Other disorders of conjunctiva 0.000372 -0.3111 0.0874 0.00154 0.737 0.233 CUBN rs2356590 10:16937607:G:T 10 16937607 G T 10:16979606 0.996636 7516 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Megaloblastic anemia Congenital deformities of hip 0.000703 1.4058 0.4149 Convergent concomitant strabismus 0.0001451 5.269 1.387 CUBN rs41289305 10:16937715:T:C 10 16937715 T C 10:16979714 0.999339 45539 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-small cell lung cancer 0.00129 0.206 0.064 0.0002088 0.411 0.111 CUBN rs2271462 10:16940062:C:T 10 16940062 C T 10:16982061 0.996972 7725 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megaloblastic anemia Hodgkin lymphoma 0.000603 1.1336 0.3305 Convergent concomitant strabismus 0.0001612 5.123 1.358 CUBN rs141640975 10:16950012:G:A 10 16950012 G A 10:16992011 0.98117 999 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Megaloblastic anemia;not provided;not specified Isolated proteinuria 0.000469 3.4458 0.9851 Isolated proteinuria 0.0009797 83.647 25.376 CUBN rs1801231 10:16982504:G:A 10 16982504 G A 10:17024503 0.99558 44585 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polycythaemia vera 0.000623 0.4182 0.1222 Polycythaemia vera 0.0008079 0.228 0.068 CUBN rs140970422 10:16982510:G:A 10 16982510 G A 10:17024509 0.991834 805 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Biliary chirrosis, primary 0.00058 5.2777 1.5339 CUBN rs121434430 10:17041160:G:A 10 17041160 G A 10:17083159 0.995097 0.00322275 2 1182 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Follow-up examination after treatment for conditions other than malignant neoplasms 2.72e-05 0.5781 0.1378 CUBN rs141164907 10:17046068:A:G 10 17046068 A G 10:17088067 0.995346 886 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Megaloblastic anemia Mixed disorders of conduct and emotions 0.000293 4.666 1.2885 Statin medication 0 2.63 0 CUBN rs148869805 10:17068640:T:C 10 17068640 T C 10:17110639 0.91893 312 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Background retinopathy and retinal vascular changes 0.000181 9.7628 2.6079 CUBN rs138083522 10:17071457:C:T 10 17071457 C T 10:17113456 0.918211 2226 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megaloblastic anemia due to inborn errors of metabolism;not specified Other noninflammatory disorders of vagina 0.00245 0.9187 0.3033 Synovial hypertrophy, not elsewhere classified 0.0004249 141.443 40.136 CUBN rs7905349 10:17084384:G:A 10 17084384 G A 10:17126383 0.998649 3020 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megaloblastic anemia;not provided Umbilical hernia 0.000519 0.4966 0.1431 Pervasive developmental disorders excl. Autism + Asperger 0.0009952 79.946 24.286 CUBN rs1801224 10:17105522:G:T 10 17105522 G T 10:17147521 0.998865 87521 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other appendicitis 0.000132 0.1691 0.0442 Other appendicitis 2.645e-06 0.15 0.032 CUBN rs1801222 10:17114152:A:G 10 17114152 A G 10:17156151 0.987784 79216 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ischaemic heart disease, wide definition 0.000193 0.0483 0.0129 Convalescence 7.697e-05 -0.165 0.042 HACD1 rs138806765 10:17599285:G:A 10 17599285 G A 10:17641284 0.993169 0.00821475 40 2978 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care related to the fetus and amniotic cavity and possible delivery problems 8.13e-05 -0.2957 0.075 Benign neoplasm of mouth and pharynx 0.00139 9.046 2.83 MRC1 10:17849701:G:A 10 17849701 G A 10:18138630 0.973017 91037 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Varicose veins 0.00064 -0.0501 0.0147 Noninflammatory disorders of female genital tract 0.0002443 -0.03 0.008 CACNB2 rs149253719 10:18506518:G:C 10 18506518 G C 10:18795447 0.977994 304 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Non-rheumatic valve diseases 0.00225 1.0825 0.3543 CACNB2 rs200764884 10:18536192:C:G 10 18536192 C G 10:18825121 0.801202 485 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Asthma, unspecified (mode) 0.00123 0.801 0.2479 CACNB2 rs137886839 10:18539411:C:T 10 18539411 C T 10:18828340 0.978851 729 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter AV-block 0.00145 1.3845 0.4348 CACNB2 rs144182966 10:18539517:C:A 10 18539517 C A 10:18828446 0.976517 0.00058249 0 214 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Seborrhoeic dermatitis 6.1e-05 5.4085 1.3492 CACNB2 rs61733968 10:18539557:C:G 10 18539557 C G 10:18828486 0.930094 2318 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Brugada syndrome 4;not provided Other acute skin changes due to ultraviolet radiation 0.00043 1.86 0.5282 Other and unspecified acute skin changes due to ultraviolet radiation 0.001472 56.245 17.686 MALRD1 rs35934077 10:19491622:A:G 10 19491622 A G 10:19780551 0.996452 12889 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperplasia of prostate 0.000556 -0.1697 0.0492 Other abnormal immunological findings in serum 0.0009231 5.055 1.526 NEBL rs143584663 10:20808617:G:A 10 20808617 G A 10:21097546 0.991653 639 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary dilated cardiomyopathy;not specified Vitamin B12 deficiency anaemia 0.000474 1.8565 0.5312 Infections of breast associated with childbirth 0.001236 69.161 21.41 NEBL rs143930021 10:20812805:T:C 10 20812805 T C 10:21101734 0.908007 278 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic viral hepatitis 0.00076 5.1007 1.5149 NEBL rs146218038 10:20819425:G:A 10 20819425 G A 10:21108354 0.938082 586 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other special examinations and investigations of persons without complaint or reported diagnosis 0.000804 0.3504 0.1046 NEBL rs4748728 10:20823208:A:T 10 20823208 A T 10:21112137 0.98863 9833 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;not specified Arthrosis 0.000265 0.1195 0.0328 Other renal tubulo-interstitial diseases 0.0006349 5.709 1.671 NEBL rs201103536 10:20840822:C:A 10 20840822 C A 10:21129751 0.926281 0.0012548 4 457 pLoF unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Primary familial hypertrophic cardiomyopathy Persons encountering health services for specific procedures, not carried out 5.13e-05 5.6181 1.3873 0 2.497 0 NEBL rs41277370 10:20845353:C:G 10 20845353 C G 10:21134282 0.999349 16738 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;not specified Male infertility 0.00151 -0.4954 0.1561 Fibroblastic disorders 0.0002943 0.728 0.201 NEBL rs4025981 10:20850460:T:C 10 20850460 T C 10:21139389 0.999017 16645 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;not specified Sudden idiopathic hearing loss 0.000882 -0.3351 0.1007 Fibroblastic disorders 0.0002711 0.736 0.202 NEBL rs2296610 10:20868692:G:T 10 20868692 G T 10:21157621 0.98971 0.049381 1020 17122 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Primary dilated cardiomyopathy;not specified Atrial fibrillation and flutter 8.43e-06 0.165 0.0371 Other and unspecified epidermal thickening 8.107e-05 3.171 0.804 NEBL rs137973321 10:20868744:C:T 10 20868744 C T 10:21157673 0.985597 805 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Crohn's disease of small interstine 0.000281 2.6808 0.738 NEBL rs41277374 10:20889923:C:G 10 20889923 C G 10:21178852 0.997167 557 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other obstetric trauma 0.000252 4.0656 1.1108 NEBL rs762005342 10:20897000:TAA:T 10 20897000 TAA T 10:21185929 0.886831 800 pLoF unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Personal history of certain other diseases 0.000441 6.8318 1.944 Cardiomyopathy, Hypertrophic obstructive 0.0004759 155.227 44.427 PTF1A rs7918487 10:23193706:T:C 10 23193706 T C 10:23482635 0.993121 90418 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified lump in breast 0.000418 0.1158 0.0328 Unspecified diabetes with multiple/unspecified complications 7.097e-05 0.27 0.068 KIAA1217 rs148599992 10:24528098:G:T 10 24528098 G T 10:24817027 0.908989 0.00144806 0 532 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Failed attempted abortion 1.62e-05 14.5689 3.3792 ARHGAP21 rs1127893 10:24584440:C:G 10 24584440 C G 10:24873369 0.996364 90637 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhage, not elsewhere classified 0.000661 -0.2929 0.086 Benign neoplasm of colon, rectum, anus and anal canal (other cancers excluded from controls) 0.001475 0.044 0.014 ARHGAP21 rs146330747 10:24584504:C:T 10 24584504 C T 10:24873433 0.956027 545 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of other endocrine glands 0.00105 0.8511 0.2598 ARHGAP21 rs61758699 10:24619599:C:T 10 24619599 C T 10:24908528 0.928008 2181 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of rectovaginal septum and vagina 0.000418 1.0848 0.3075 Hard cardiovascular diseases 3.447e-05 3.562 0.86 ARHGAP21 rs143952326 10:24620421:T:C 10 24620421 T C 10:24909350 0.969435 410 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Palmar fascial fibromatosis [Dupuytren] 0.00241 1.7257 0.5687 MYO3A rs3824700 10:26066977:G:A 10 26066977 G A 10:26355906 0.999942 89847 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Status epilepticus 0.00417 -0.2183 0.0762 0.000785 0.249 0.074 MYO3A rs3824699 10:26067063:A:G 10 26067063 A G 10:26355992 0.998142 67739 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma, hospital admissions , main diagnosis only 0.000633 0.0533 0.0156 Placenta praevia 0.0002473 0.178 0.049 MYO3A rs3817420 10:26068819:G:A 10 26068819 G A 10:26357748 0.998142 67741 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma, hospital admissions , main diagnosis only 0.000634 0.0533 0.0156 Placenta praevia 0.0002458 0.178 0.049 MYO3A rs375646552 10:26070147:A:G 10 26070147 A G 10:26359076 0.884407 159 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified bacterial intestinal infections 0.00023 7.0043 1.9013 MYO3A rs72787346 10:26088402:C:T 10 26088402 C T 10:26377331 0.974931 384 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Erectile dysfunction 0.00107 2.9996 0.9171 MYO3A rs33947968 10:26145526:G:T 10 26145526 G T 10:26434455 0.998679 24640 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Supervision of high-risk pregnancy 0.00109 -0.1182 0.0362 Nonhereditary hypogammaglobulinemia 0.0002057 3.391 0.913 MYO3A rs3758449 10:26157383:G:A 10 26157383 G A 10:26446312 0.998877 89544 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Status epilepticus 0.00192 -0.2371 0.0764 Abscess of Bartholin gland 0.001073 -0.21 0.064 MYO3A rs34918608 10:26166161:G:A 10 26166161 G A 10:26455090 0.995746 9448 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other and unspecified trigeminal disorders 0.000161 1.3892 0.3682 Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.0003759 2.249 0.632 MYO3A rs184043065 10:26173802:G:A 10 26173802 G A 10:26462731 0.975803 263 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Seborrhoeic dermatitis 0.000699 3.6309 1.0711 MYO3A rs3740231 10:26174114:A:T 10 26174114 A T 10:26463043 0.99801 90929 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, strict definition 0.00276 -0.1073 0.0358 Abnormal findings on diagnostic imaging of lung 0.002247 -0.056 0.018 MYO3A rs35575696 10:26174123:C:A 10 26174123 C A 10:26463052 0.987608 6197 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Alzheimer's disease (undefined) (more controls excluded) 0.00102 1.7318 0.5272 Alzheimer's disease (undefined) 1e-04 24.441 6.282 MYO3A rs1999240 10:26174201:C:A 10 26174201 C A 10:26463130 0.998208 84731 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Placenta praevia 0.000952 0.2346 0.071 Cerebral aneurysm, nonruptured 0.0002505 -0.141 0.039 MYO3A rs34151474 10:26174514:C:T 10 26174514 C T 10:26463443 0.959462 1577 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Type 1 diabetes, strict definition 0.00116 -1.0183 0.3136 Plantar fascial fibromatosis 4.203e-05 11.872 2.898 MYO3A rs147376000 10:26193231:A:G 10 26193231 A G 10:26482160 0.994572 6719 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not provided;not specified Other specified disorders of external ear 0.000653 0.9855 0.2891 0.00029 18.982 5.238 MYO3A rs767228097 10:26211958:T:C 10 26211958 T C 10:26500887 0.808055 219 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of pericardium 0.000944 8.553 2.5865 GAD2 rs2839672 10:26219214:C:A 10 26219214 C A 10:26508143 0.965348 3396 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enterocolitis due to Clostridium difficile 0.000876 0.7893 0.2372 Haemorrhage, not elsewhere classified 0.0002053 20.89 5.627 GAD2 rs143186590 10:26224610:T:C 10 26224610 T C 10:26513539 0.980139 315 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arterial embolism and thrombosis 0.0014 8.6562 2.7099 GAD2 rs2839673 10:26224622:G:A 10 26224622 G A 10:26513551 0.981657 3357 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dialysis 0.000372 1.3377 0.3758 Benign neoplasm: Oesophagus (other cancers excluded from controls) 0.001141 71.587 22.006 GAD2 rs52834041 10:26229742:G:A 10 26229742 G A 10:26518671 0.983837 0.00246606 6 900 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of vestibular function (Vertigo) 3e-05 0.8571 0.2054 Vertigo of central origin 0.0006183 129.185 37.735 PDSS1 rs116424900 10:26720339:A:G 10 26720339 A G 10:27009268 0.942101 329 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diabetes mellitus 0.000176 -0.7036 0.1875 ANKRD26 rs2274741 10:27014676:A:T 10 27014676 A T 10:27303605 0.999657 64748 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lichen simplex chronicus 0.000239 0.34 0.0926 Sacrococcygeal disorders, not elsewhere classified 0.0001168 0.47 0.122 ANKRD26 rs80097260 10:27017563:A:G 10 27017563 A G 10:27306492 0.949736 2827 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Hyperplasia of prostate 0.00012 -0.4091 0.1064 Unspecified dementia 0.0003061 4.857 1.345 ANKRD26 rs146159734 10:27017749:C:T 10 27017749 C T 10:27306678 0.974706 444 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bullous pemphigoid 0.00128 9.0576 2.8131 ANKRD26 rs10829163 10:27028911:C:T 10 27028911 C T 10:27317840 0.999602 64713 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lichen simplex chronicus 0.000232 0.3408 0.0926 Sacrococcygeal disorders, not elsewhere classified 0.0001167 0.47 0.122 ANKRD26 rs12572862 10:27033374:C:G 10 27033374 C G 10:27322303 0.999027 0.0485726 882 16963 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thrombocytopenia;not specified Non-ischemic cardiomyopathy 9.48e-05 -0.1508 0.0386 Third [oculomotor] nerve palsy 0.0002969 4.414 1.22 ANKRD26 rs139949439 10:27040008:C:G 10 27040008 C G 10:27328937 0.992183 1769 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Juvenile arthritis (FINNGEN) 0.000229 1.746 0.4739 Persons encountering health services in other circumstances 0.00888 12.396 4.737 ANKRD26 rs141748831 10:27040170:T:G 10 27040170 T G 10:27329099 0.995912 0.00592562 26 2151 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative colitis 9.28e-05 0.6643 0.1699 Other disorders of breast 0.0002082 19.239 5.187 ANKRD26 rs138423863 10:27053356:CTCT:C 10 27053356 CTCT C 10:27342285 0.999026 0.048559 936 16904 inframe_indel dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thrombocytopenia;not specified Non-ischemic cardiomyopathy 9.13e-05 -0.1508 0.0385 Inflammation of lacrimal passages (acute and unspecified) 0.0003794 4.116 1.158 ANKRD26 rs201461870 10:27061155:A:G 10 27061155 A G 10:27350084 0.973812 1248 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unsepecified deforming dorsopathies 0.000154 3.7832 0.9998 ANKRD26 rs12359281 10:27064078:T:C 10 27064078 T C 10:27353007 0.999483 10922 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thrombocytopenia;not specified Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 0.00154 0.417 0.1317 Panniculitis, unspecified 5.062e-05 13.369 3.299 ANKRD26 rs191015656 10:27092502:G:A 10 27092502 G A 10:27381431 0.98697 317 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.000316 14.4001 3.9981 ANKRD26 rs139049098 10:27100174:G:C 10 27100174 G C 10:27389103 0.904197 162 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic ulcer of skin, not elsewhere classified 0.000514 7.3509 2.1163 ANKRD26 rs7897309 10:27100268:T:C 10 27100268 T C 10:27389197 0.99615 27598 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.00017 -0.5624 0.1496 Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.0002628 -0.29 0.08 MASTL rs36121140 10:27169969:C:A 10 27169969 C A 10:27458898 0.988094 1010 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thrombocytopenia;not specified Heterophoria 0.00588 1.4529 0.5274 Parapsoriasis 0.0006597 119.85 35.19 MASTL rs148839815 10:27170314:C:A 10 27170314 C A 10:27459243 0.855323 88 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Long bones of lower limb 0.000326 19.0558 5.3024 MASTL rs3802526 10:27170817:C:G 10 27170817 C G 10:27459746 0.999611 34506 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hydrocele 0.00015 0.198 0.0522 Deforming dorsopathies 0.0003452 0.301 0.084 MASTL rs138288481 10:27186516:G:A 10 27186516 G A 10:27475445 0.870063 108 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Short Achilles tendon (acquired) 0.00029 14.167 3.9092 ACBD5 rs41282238 10:27240384:G:A 10 27240384 G A 10:27529313 0.980798 0.0059365 20 2161 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otherand unspecified haemorrhagic conditions 4.92e-05 4.0622 1.0006 Pneumonia (excl. viral and due to other infectious organisms not elsewhere classified) 0.0002719 2.573 0.707 PTCHD3 rs112067123 10:27413327:G:GC 10 27413327 G GC 10:27702256 0.998782 77745 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anorexia (incl.atypical) 0.00056 -0.1869 0.0542 Faecal incontinence 0.0003478 -0.206 0.058 ARMC4 rs3737184 10:27812526:C:A 10 27812526 C A 10:28101455 0.998725 12030 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary ciliary dyskinesia 23 Desensitization to allergens 0.000798 0.5679 0.1694 Dislocation, sprain and strain of joints and ligaments at ankle and foot level 0.0004474 0.885 0.252 ARMC4 rs145619075 10:27935163:C:A 10 27935163 C A 10:28224092 0.976266 233 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lipoprotein metabolism and other lipidaemias 0.00193 -0.9803 0.3162 ARMC4 rs140569195 10:27944256:C:T 10 27944256 C T 10:28233185 0.984398 0.000288523 0 106 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Osteonecrosis 4.69e-05 14.2314 3.4962 ARMC4 rs150723128 10:27968954:A:T 10 27968954 A T 10:28257883 0.94233 0.00415909 16 1512 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary ciliary dyskinesia 23 Other and unspecified disease of Bartholin gland 6.09e-05 2.6437 0.6594 Pulmonary heart disease 6.451e-05 9.879 2.472 ARMC4 rs4405206 10:27971222:A:G 10 27971222 A G 10:28260151 0.994112 0.0274478 360 9724 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified hydrocephalus 5.72e-06 2.2047 0.486 Prolapse and hernia of ovary and fallopian tube 0.0004537 2.503 0.714 MPP7 rs145596649 10:28131691:C:T 10 28131691 C T 10:28420620 0.957836 1724 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of heart and great arteries 0.000335 1.0743 0.2995 Use of disulfiram, acamprosate or naltrexone 0.0002202 19.261 5.213 BAMBI rs72809669 10:28682240:G:A 10 28682240 G A 10:28971169 0.986977 10762 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonalcoholic fatty liver disease 0.00171 0.5138 0.1638 Hallux valgus (acquired) 0.0003635 0.798 0.224 SVIL rs150671744 10:29463569:T:G 10 29463569 T G 10:29752498 0.995708 324 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Acute upper respiratory infections of multiple and unspecified sites 0.000671 0.7428 0.2184 MTPAP rs17855116 10:30313721:C:T 10 30313721 C T 10:30602650 0.968596 4870 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Malignant neoplasm of vulva (other cancers excluded from controls) 0.000271 2.7105 0.7444 Malignant neoplasm of vulva (other cancers excluded from controls) 0.0001849 39.584 10.588 MTPAP rs1047991 10:30340297:G:A 10 30340297 G A 10:30629226 0.999563 63370 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of aortic and mitral valves 0.0017 0.3015 0.096 Other papulosquamous disorders 0.0001148 1.012 0.262 ZEB1 rs138507868 10:31521586:A:G 10 31521586 A G 10:31810514 0.994394 421 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of appendix 0.000555 12.0413 3.4873 ZEB1 rs141194628 10:31521751:A:G 10 31521751 A G 10:31810679 0.941625 372 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected abnormality of pelvic organs 0.00024 1.7648 0.4805 ZEB1 rs118020901 10:31521854:A:C 10 31521854 A C 10:31810782 0.998308 11439 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Corneal dystrophy, Fuchs endothelial, 6 Lichen sclerosus et atrophicus 0.00129 0.4747 0.1475 0.0004129 1.387 0.393 NRP1 rs150351789 10:33180348:C:T 10 33180348 C T 10:33469276 0.989641 271 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of small intestine 0.00215 7.4737 2.4358 CREM rs52806860 10:35206973:C:T 10 35206973 C T 10:35495901 0.977428 0.00157871 2 578 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 6.67e-05 8.9719 2.2498 ANKRD30A rs763931520 10:37219650:CTG:C 10 37219650 CTG C 10:37508578 0.969969 1491 pLoF unknown Uncertain significance VUS no assertion criteria provided no_Criteria Familial cancer of breast Volume depletion 0.000104 1.7952 0.4626 Dislocation, sprain and strain of joints and ligaments at ankle and foot level 0.001314 7.584 2.361 BMS1 rs2272881 10:42791700:G:A 10 42791700 G A 10:43287148 0.989474 2202 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of ovary (other cancers excluded from controls) 0.00105 1.3858 0.423 Psychiatric comorbidites (Asthma/COPD) 2.206e-05 2.333 0.55 BMS1 rs41302249 10:42802191:G:A 10 42802191 G A 10:43297639 0.983487 9352 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis of knee 0.000615 1.4403 0.4205 Benign neoplasm: Connective and other soft tissue of head, face and neck (other cancers excluded from controls) 0.0001644 9.017 2.393 BMS1 rs138529489 10:42823716:C:T 10 42823716 C T 10:43319164 0.894726 142 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of forearm 0.000245 6.4793 1.7669 RET rs145633958 10:43100551:C:A 10 43100551 C A 10:43595999 0.976402 0.00321186 4 1176 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hirschsprung disease;Multiple endocrine neoplasia;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a;not provided;not specified Other arthritis (FG) 3.92e-05 0.9237 0.2246 Cardiovascular diseases 0 2.21 0 RET rs192489011 10:43100585:G:A 10 43100585 G A 10:43596033 0.999526 475 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on examination of other body fluids, substances and tissues, without diagnosis 0.000296 0.8788 0.2429 RET rs199529397 10:43109070:G:A 10 43109070 G A 10:43604518 0.937145 0.000691367 0 254 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of the thyroid gland 2.32e-05 0.9418 0.2225 RET rs1799939 10:43114671:G:A 10 43114671 G A 10:43610119 0.999805 61817 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Asthma/COPD-related acute respiratory infections 0.000396 -0.0387 0.0109 Other and unspecified nail disorders 0.002212 0.675 0.221 RET rs77724903 10:43118460:A:T 10 43118460 A T 10:43613908 0.990251 1688 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Familial cancer of breast;Familial medullary thyroid carcinoma;Hereditary cancer-predisposing syndrome;Hirschsprung Disease, Dominant;Hirschsprung disease;Medullary thyroid carcinoma;Multiple endocrine neoplasia;Multiple endocrine neoplasia, type 1;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 2b;Multiple endocrine neoplasia, type 4;Pheochromocytoma;Renal adysplasia;not provided;not specified;not specified Residual foreign body in soft tissue 0.000988 1.6692 0.5067 Hypothyroidism,other/unspecified 0 3.825 0 RET rs17158558 10:43124887:C:T 10 43124887 C T 10:43620335 0.997002 2394 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial medullary thyroid carcinoma;Hereditary cancer-predisposing syndrome;Hirschsprung Disease, Dominant;Hirschsprung disease;Hirschsprung disease 1;Multiple endocrine neoplasia;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2;Multiple endocrine neoplasia, type 2a;Multiple endocrine neoplasia, type 2b;Pheochromocytoma;Renal adysplasia;not provided;not specified Polyneuropathies and other disorders of the peripheral nervous system 0.000192 0.7192 0.1929 Benign lipomatous neoplasm of other sites/unspecified 0.0001481 22.163 5.841 RET rs201740483 10:43126647:A:G 10 43126647 A G 10:43622095 0.998522 606 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Migraine, single triptan purchase ok & required. ICD-code if available is included 0.000419 0.7224 0.2048 RASSF4 rs140069760 10:44984908:G:A 10 44984908 G A 10:45480356 0.995734 784 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified dermatitis 0.000105 0.8347 0.2152 ERCC6 rs2228529 10:49459059:T:C 10 49459059 T C 10:50667105 0.999483 72857 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other Chron's disease 0.000813 -0.2028 0.0606 Coeliac disease 0.0004359 0.185 0.053 ERCC6 rs61760167 10:49459074:T:G 10 49459074 T G 10:50667120 0.988429 2734 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cerebrooculofacioskeletal Syndrome;Cockayne syndrome;Macular degeneration;not specified Benign neoplasm: Bronchus and lung 0.00308 2.8077 0.9487 0.000998 -0.84 0.255 ERCC6 rs185142838 10:49461473:G:A 10 49461473 G A 10:50669519 0.910771 647 pLoF both Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of neck 0.000579 3.6455 1.0593 ERCC6 rs4253211 10:49470271:C:G 10 49470271 C G 10:50678317 0.994939 19855 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebrooculofacioskeletal Syndrome;Cockayne syndrome;Macular degeneration;not specified Other sleepdisorders 0.00198 -0.2718 0.0878 Complications of labour and delivery 0.0001572 0.279 0.074 ERCC6 rs2228527 10:49470323:T:C 10 49470323 T C 10:50678369 0.999859 72591 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other Chron's disease 0.000635 -0.2064 0.0604 Coeliac disease 0.0002042 0.195 0.052 ERCC6 rs147079519 10:49470569:T:C 10 49470569 T C 10:50678615 0.933617 149 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified trigeminal disorders 0.000497 17.1619 4.9281 ERCC6 rs2228526 10:49470671:T:C 10 49470671 T C 10:50678717 0.99991 72584 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other Chron's disease 0.000641 -0.2062 0.0604 Coeliac disease 0.0002064 0.195 0.052 ERCC6 rs142580756 10:49472997:G:A 10 49472997 G A 10:50681043 0.982144 460 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebrooculofacioskeletal Syndrome;Cockayne syndrome;Macular degeneration Pyogenic granuloma 0.000309 9.1465 2.5351 0.005155 19.338 6.913 ERCC6 rs4253047 10:49524093:C:T 10 49524093 C T 10:50732139 0.977415 6153 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebrooculofacioskeletal Syndrome;Cockayne syndrome;Macular degeneration;not provided;not specified Cardiovascular diseases 0.000149 -0.1231 0.0325 Macular pucker 2.526e-05 5.15 1.223 ERCC6 rs2228528 10:49524234:C:T 10 49524234 C T 10:50732280 0.999994 0.163928 9960 50265 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lichen simplex chronicus 1.3e-05 0.468 0.1073 Acute renal failure 0.0002715 0.298 0.082 CHAT rs3810948 10:49614330:C:G 10 49614330 C G 10:50822376 0.992405 9684 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial infantile myasthenia;not provided;not specified Osteonecrosis 0.000738 0.7354 0.2179 DVT of lower extremities 6.639e-05 1.637 0.41 CHAT rs1880676 10:49616071:G:A 10 49616071 G A 10:50824117 0.997807 56986 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental retardation 0.000692 0.2605 0.0768 Volvulus 0.0004016 0.666 0.188 CHAT rs3810950 10:49616573:G:A 10 49616573 G A 10:50824619 0.997764 57021 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental retardation 0.000685 0.2607 0.0768 Volvulus 0.0003878 0.669 0.189 CHAT rs121912820 10:49620544:T:C 10 49620544 T C 10:50828590 0.97318 288 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Femoral hernia, unilateral 0.000544 7.4148 2.1442 CHAT rs8178990 10:49622125:C:T 10 49622125 C T 10:50830171 0.996498 34442 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neuralgia and neuritis, unspecified 0.000229 -0.386 0.1047 Degeneration of nervous system due to alcohol 8.986e-05 1.446 0.369 CHAT rs372758559 10:49646535:T:C 10 49646535 T C 10:50854581 0.960974 278 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and unspecified female genital organs (other cancers excluded from controls) 0.000334 5.9818 1.6673 CHAT rs8178991 10:49646591:G:A 10 49646591 G A 10:50854637 0.992307 8322 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial infantile myasthenia;not provided;not specified Polyarthritis, unspecified 0.000137 0.9632 0.2526 Macular pucker 0.0002229 3.229 0.875 CHAT rs76014951 10:49648597:C:T 10 49648597 C T 10:50856643 0.980309 4055 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial infantile myasthenia;not specified Hyperkinetic disorders (more controls excluded) 0.000215 1.265 0.3418 Hyperkinetic disorders (more controls excluded) 0.0003708 9.204 2.585 CHAT rs80097077 10:49655142:G:A 10 49655142 G A 10:50863188 0.997235 3318 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial infantile myasthenia;not provided;not specified Biomechanical lesions, not elsewhere classified 0.000761 1.3841 0.4111 Diseases of the skin and subcutaneous tissue 3.876e-05 1.25 0.304 CHAT rs79414242 10:49664976:C:T 10 49664976 C T 10:50873022 0.985459 868 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Scoliosis 0.000531 2.0006 0.5775 OGDHL rs143105288 10:49739779:A:G 10 49739779 A G 10:50947825 0.986954 11476 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inborn genetic diseases Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.000157 0.1801 0.0476 Other/unspecified soft tissue disorders related to use, overuse and pressure 0.0008001 5.283 1.576 OGDHL rs150231967 10:49750849:T:A 10 49750849 T A 10:50958895 0.990134 2524 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inborn genetic diseases Palmar fascial fibromatosis [Dupuytren] 0.000623 0.6813 0.1991 Benign neoplasm: Short bones of lower limb 0.001341 67.041 20.905 AGAP6 rs141217862 10:50008914:CAA:C 10 50008914 CAA C 10:51768674 0.985699 0.229934 19800 64675 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic hepatitis NAS 1.46e-06 0.6746 0.1401 Chronic hepatitis, not elsewhere classified 7.582e-06 0.583 0.13 A1CF rs41274050 10:50814012:C:T 10 50814012 C T 10:52573772 0.979139 637 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anankastic personality disorder 0.000458 4.3462 1.2402 Injury of nerves at wrist and hand level 0.000538 156.229 45.139 PRKG1 rs202017913 10:50991417:G:A 10 50991417 G A 10:52751177 0.998539 386 start_lost dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Pain in throat and chest 0.000302 -0.6781 0.1877 PRKG1 rs34997494 10:52062541:A:G 10 52062541 A G 10:53822301 0.996641 12394 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aortic aneurysm, familial thoracic 8;Cardiovascular phenotype;not provided;not specified Pre-existing hypertension complicating pregnancy, childbirth and the puerperium 0.000367 0.4676 0.1313 Sequelae of injuries of head 0.001846 2.635 0.846 MBL2 rs1800451 10:52771466:C:T 10 52771466 C T 10:54531226 0.999392 3362 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mannose-binding protein deficiency;not specified Substance use, excluding alcohol 0.000453 0.5491 0.1566 Benign neoplasm of ovary (other cancers excluded from controls) 0.0004278 5.8 1.647 MBL2 rs1800450 10:52771475:C:T 10 52771475 C T 10:54531235 0.99958 41713 missense_variant dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Benign neoplasm of middle ear and respiratory system (other cancers excluded from controls) 0.000332 0.2737 0.0763 Rheumatism, unspecified 0.0003156 0.316 0.088 MBL2 rs5030737 10:52771482:G:A 10 52771482 G A 10:54531242 0.996988 19622 missense_variant dominant Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Mannose-binding protein deficiency Other disorders of bone density and structure 0.00235 0.561 0.1844 Lesion of lateral popliteal nerve 0.0004449 1.83 0.521 PCDH15 rs17704703 10:53806646:T:G 10 53806646 T G 10:55566406 0.994482 73241 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Female infertility, associated with anovulation 0.000842 0.193 0.0578 Symptoms and signs involving the nervous and musculoskeletal systems 0.0003464 -0.085 0.024 PCDH15 rs11003863 10:53809212:T:G 10 53809212 T G 10:55568972 0.997455 0.174293 11290 52743 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary right heart disease 5.89e-05 0.4304 0.1071 Mental and behabioural disorders of puerperum, not classified elsewhere (more controls excluded) 8.078e-05 1.251 0.317 PCDH15 rs41274622 10:53810587:C:T 10 53810587 C T 10:55570347 0.99252 5350 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Injury of nerves and spinal cord at neck level 0.000181 1.9119 0.5107 Maternal care for known or suspected fetal abnormality and damage 0.0005201 3.471 1 PCDH15 rs747596359 10:53822122:CGTT:C 10 53822122 CGTT C 10:55581882 0.852105 0.000647816 0 238 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of cornea 4.08e-05 4.9145 1.1978 PCDH15 rs111033362 10:53822876:T:C 10 53822876 T C 10:55582636 0.990341 1381 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified Other bursitis of knee 0.000255 5.0263 1.3742 Acquired haemolytic anaemia 0.0005865 133.249 38.76 PCDH15 rs45483395 10:53961876:C:A 10 53961876 C A 10:55721636 0.915463 683 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;Usher syndrome, type 1F;not specified Transport accidents 0.000691 4.8842 1.4394 Dorsopathies 5.584e-05 2.607 0.647 PCDH15 rs2135720 10:53995731:C:T 10 53995731 C T 10:55755491 0.999303 65146 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory disorders of breast 0.000157 -0.2693 0.0713 Congenital malformations of the nervous system 0.0001448 0.675 0.178 PCDH15 rs61731389 10:54132882:T:C 10 54132882 T C 10:55892642 0.997205 8050 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not specified Other papulosquamous disorders 0.000869 1.7137 0.5146 Other anxiety disorders 0.0009654 0.961 0.291 PCDH15 rs4935502 10:54195684:T:G 10 54195684 T G 10:55955444 0.994936 45793 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, strict definition 0.000369 0.179 0.0503 Mesothelioma (other cancers excluded from controls) 0.0001944 1.586 0.426 PCDH15 rs199786639 10:54195793:T:C 10 54195793 T C 10:55955553 0.997302 0.00395222 6 1446 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Diseases of arteries, arterioles and capillaries 1.77e-05 0.5603 0.1305 Guillain-Barre syndrome 0.0003612 205.797 57.696 PCDH15 rs10825269 10:54195850:C:T 10 54195850 C T 10:55955610 0.999998 35613 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Toxic effect of ethanol 0.000329 -0.3502 0.0975 Other and/or unspecified nontoxic goitre 0.0003998 0.572 0.162 PCDH15 rs111033436 10:54213995:G:A 10 54213995 G A 10:55973755 0.999201 611 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Post-traumatic stress disorder 0.000458 2.4277 0.6928 PCDH15 rs11004439 10:54664208:A:C 10 54664208 A C 10:56423968 0.99414 47799 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Manic episode 0.000326 -0.3314 0.0922 Benign neoplasm: Rectum (other cancers excluded from controls) 0.001247 0.271 0.084 TFAM rs1937 10:58385582:G:C 10 58385582 G C 10:60145342 0.989793 23638 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of the genitourinary system 0.000771 0.2642 0.0786 Malignant neoplasm of oesophagus 0.001769 2.009 0.643 BICC1 rs142515390 10:58813915:G:A 10 58813915 G A 10:60573675 0.920545 100 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonitis due to solids and liquids 0.00138 8.5125 2.6617 BICC1 rs62625030 10:58817636:A:G 10 58817636 A G 10:60577396 0.983449 2008 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supervision of normal pregnancy 0.000277 -0.3764 0.1035 Giant cell arteritis 0.0007144 111.432 32.929 SLC16A9 rs138607526 10:59652801:A:C 10 59652801 A C 10:61412559 0.986441 2099 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other soft tissue disorders, not elsewhere classified 0.000316 0.3168 0.088 Problems related to life-management difficulty 0.0004306 15.303 4.347 ANK3 rs141939315 10:60042719:C:T 10 60042719 C T 10:61802477 0.976428 1320 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Acute bronchiolitis 0.000246 2.2465 0.6127 Hypoglycaemia, other or unspecified 0.0003192 16.097 4.472 ANK3 rs148549519 10:60069056:T:C 10 60069056 T C 10:61828814 0.927728 83 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of the puerperium, not elsewhere classified 0.000275 14.7622 4.0575 ANK3 rs61845768 10:60070826:T:C 10 60070826 T C 10:61830584 0.954512 704 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Tic disorders 0.000408 8.0696 2.2828 Biliary chirrosis, primary 0.000381 175.387 49.364 ANK3 rs201625904 10:60070946:G:A 10 60070946 G A 10:61830704 0.98594 487 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Vascular dementia (subcortical) 0.00013 7.1945 1.8802 Dermatitis and eczema 0 5.223 0 ANK3 rs10821668 10:60071513:T:C 10 60071513 T C 10:61831271 0.998912 71069 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria Special screening examination for other diseases and disorders 0.000373 0.1656 0.0465 Other congenital malformations of ear 2.564e-05 0.789 0.188 ANK3 rs28932171 10:60071532:T:C 10 60071532 T C 10:61831290 0.991169 31235 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Spondylosis 0.000264 -0.1148 0.0315 Retained placenta and membranes, without haemorrhage 0.0002155 0.773 0.209 ANK3 rs41274672 10:60071893:C:G 10 60071893 C G 10:61831651 0.973916 3510 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other deformities of toe(s) 0.00015 1.6287 0.4296 Pterygium 0.0002098 20.504 5.531 ANK3 rs11599164 10:60072226:G:T 10 60072226 G T 10:61831984 0.991354 31234 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Spondylosis 0.000271 -0.1146 0.0315 Retained placenta and membranes, without haemorrhage 0.0002198 0.772 0.209 ANK3 rs148904927 10:60073656:A:G 10 60073656 A G 10:61833414 0.991327 444 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of binocular vision 0.00174 7.9265 2.5313 ANK3 rs140463162 10:60073926:C:T 10 60073926 C T 10:61833684 0.977605 4276 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Postpartum haemorrhage 0.00105 -0.4477 0.1367 Maternal care for known or suspected disproportion 0.001322 8.988 2.799 ANK3 rs117475706 10:60075299:G:A 10 60075299 G A 10:61835057 0.985848 539 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Atypical mycobacterium lung infection 0.000123 11.2975 2.9426 ANK3 rs138640280 10:60075948:C:T 10 60075948 C T 10:61835706 0.980505 1122 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personal history of other diseases and conditions 0.000293 1.6135 0.4455 Presence of cardiac and vascular implants and grafts 4.547e-06 6.219 1.356 ANK3 rs41274676 10:60076416:G:A 10 60076416 G A 10:61836174 0.977944 828 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Convulsions, not elsewhere classified 0.00149 0.8877 0.2795 EGR2 rs139147487 10:62813994:G:A 10 62813994 G A 10:64573754 0.979873 343 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chlocystitis 0.000587 2.389 0.695 EGR2 rs146631014 10:62814446:C:G 10 62814446 C G 10:64574206 0.934595 148 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Purpura and other haemorrhagic conditions 0.000168 4.6003 1.2224 JMJD1C rs71508957 10:63168077:C:T 10 63168077 C T 10:64927837 0.989232 466 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hemiplegia 0.000111 4.058 1.0496 JMJD1C rs34491125 10:63177741:G:C 10 63177741 G C 10:64937501 0.954364 2765 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early myoclonic encephalopathy Carcinoma in situ of skin of trunk 0.000482 2.8919 0.8285 Mental and behavioural disorders due to alcohol, excluding acute intoxication 0.0006846 4.959 1.46 JMJD1C rs200368807 10:63189311:T:C 10 63189311 T C 10:64949071 0.990003 498 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other demyelinating diseases of the central nervous system 0.000251 5.0169 1.3701 JMJD1C rs41274064 10:63193075:G:A 10 63193075 G A 10:64952835 0.981685 7424 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early myoclonic encephalopathy Benign lipomatous neoplasm 0.000379 0.2941 0.0827 Persons encountering health services for specific procedures, not carried out 0.0004714 6.255 1.789 JMJD1C rs139722368 10:63208190:ACTAAAC:A 10 63208190 ACTAAAC A 10:64967950 0.999718 10833 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early myoclonic encephalopathy Postprocedural disorders of nervous system 0.000837 0.4906 0.1469 Malnutrition 0.0001594 9.224 2.443 JMJD1C rs745461131 10:63208286:G:A 10 63208286 G A 10:64968046 0.934567 66 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Undetermined asthma 0.000765 6.5494 1.9462 JMJD1C rs41274068 10:63214218:G:A 10 63214218 G A 10:64973978 0.990906 5912 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early myoclonic encephalopathy Specific development disorders of scholastic skills 0.000929 0.8981 0.2712 Complications of genitourinary prosthetic devices, implants and grafts 0.001159 9.965 3.067 JMJD1C rs41274072 10:63214396:T:C 10 63214396 T C 10:64974156 0.996622 15171 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early myoclonic encephalopathy Noninfective enteritis and colitis 0.00111 -0.1476 0.0453 Superficial injury of forearm 0.001469 1.408 0.443 JMJD1C rs41274074 10:63214620:G:C 10 63214620 G C 10:64974380 0.99941 10846 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early myoclonic encephalopathy Postprocedural disorders of nervous system 0.000545 0.509 0.1472 Malnutrition 0.0001478 9.458 2.492 JMJD1C rs61757562 10:63214780:G:A 10 63214780 G A 10:64974540 0.889456 389 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Oesophagus 0.000514 12.1212 3.4897 JMJD1C rs151186255 10:63214788:A:G 10 63214788 A G 10:64974548 0.992737 24336 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early myoclonic encephalopathy Other eating disorders 0.000168 0.424 0.1127 Single delivery by forceps and vacuum extractor 0.0007486 0.522 0.155 JMJD1C rs200016210 10:63215047:C:G 10 63215047 C G 10:64974807 0.970454 444 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemangioma, any site (other cancers excluded from controls) 0.000682 2.8768 0.8469 JMJD1C rs201497554 10:63215319:C:T 10 63215319 C T 10:64975079 0.88866 495 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hepatomegaly and splenomegaly, not elsewhere classified 0.000681 11.2005 3.2972 CTNNA3 rs202196166 10:65920518:G:A 10 65920518 G A 10:67680276 0.993103 0.00108877 6 394 pLoF dominant Uncertain significance VUS no assertion criteria provided no_Criteria Primary familial hypertrophic cardiomyopathy Other heart diseases 5.5e-05 0.495 0.1227 Coronary angiopasty 0.0008245 8.495 2.54 CTNNA3 rs41274090 10:66379281:G:A 10 66379281 G A 10:68139039 0.984911 5761 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arrhythmogenic right ventricular dysplasia, familial, 13 Unspecified diabetes without complications 0.00158 0.5897 0.1866 Certain disorders involving the immune mechanism 0.0007095 2.447 0.723 CTNNA3 rs140913916 10:66520695:T:A 10 66520695 T A 10:68280453 0.981196 669 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arrhythmogenic right ventricular dysplasia, familial, 13 Other encephalitis 0.00142 4.1973 1.3158 0 5.258 0 CTNNA3 rs187752783 10:66766413:G:A 10 66766413 G A 10:68526171 0.990452 257 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hernia 0.000875 0.717 0.2154 CTNNA3 rs192093851 10:67219708:C:A 10 67219708 C A 10:68979466 0.997866 7813 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arrhythmogenic right ventricular dysplasia, familial, 13 Other specified/unspecified dorsopathies 0.000318 0.8872 0.2464 Coronary artery bypass grafting 0.0006682 1.252 0.368 CTNNA3 rs61749223 10:67521943:A:T 10 67521943 A T 10:69281701 0.997364 10264 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arrhythmogenic right ventricular dysplasia, familial, 13 Certain disorders involving the immune mechanism 0.000139 -0.3552 0.0932 Complications of the puerperium, not elsewhere classified 0.0004178 4.063 1.151 SIRT1 rs116040871 10:67912722:G:A 10 67912722 G A 10:69672479 0.967926 154 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders starting during childhood or adolecense (more controls excluded) 0.000416 7.6454 2.166 MYPN rs370768715 10:68121623:A:C 10 68121623 A C 10:69881380 0.923835 140 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Volume depletion 0.00095 6.2086 1.8787 MYPN rs201454261 10:68122240:C:T 10 68122240 C T 10:69881997 0.995737 0.00304855 8 1112 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy, restrictive Von Willebrand disease 1.67e-05 8.7771 2.0385 Ovarian cyst 0.0001296 3.073 0.803 MYPN rs763819518 10:68143083:C:A 10 68143083 C A 10:69902840 0.937276 224 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Special screening examination for other diseases and disorders 0.000756 2.8233 0.8382 MYPN rs11596653 10:68148400:T:C 10 68148400 T C 10:69908157 0.99478 0.0123085 42 4480 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1KK;not provided;not specified Chron's disease NAS 6.5e-05 1.0217 0.2558 Type 1 diabetes with ketoacidosis 0.001348 3.943 1.23 MYPN rs10823148 10:68166577:C:G 10 68166577 C G 10:69926334 0.993548 91092 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs (other cancers excluded from controls) 0.000763 -0.1648 0.049 Congenital malformations of the musculoskeletal system, not elsewhere classified 0.0004478 0.351 0.1 MYPN rs10997975 10:68174164:G:A 10 68174164 G A 10:69933921 0.995343 91694 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs (other cancers excluded from controls) 0.00031 -0.1763 0.0489 Congenital malformations of the musculoskeletal system, not elsewhere classified 9.255e-05 0.401 0.102 MYPN rs7916821 10:68174212:G:A 10 68174212 G A 10:69933969 0.995475 91668 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs (other cancers excluded from controls) 0.00044 -0.1717 0.0488 Congenital malformations of the musculoskeletal system, not elsewhere classified 7.732e-05 0.406 0.103 MYPN rs3814182 10:68174501:C:G 10 68174501 C G 10:69934258 0.986221 0.617968 140458 86576 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Iridocyclitis in diseases classified elsewhere 7.62e-05 -0.4693 0.1186 Infective bursitis 0.0003142 0.218 0.061 MYPN rs62620248 10:68174502:G:A 10 68174502 G A 10:69934259 0.970401 3987 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1KK;not provided;not specified Hypertensive diseases 0.00185 -0.151 0.0485 Male infertility 0.0002537 17.864 4.883 MYPN rs149887823 10:68189064:C:T 10 68189064 C T 10:69948821 0.987808 323 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Angina pectoris 0.00188 -0.8369 0.2692 MYPN rs151282801 10:68195498:C:T 10 68195498 C T 10:69955255 0.966259 192 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Female genital prolapse 0.000103 1.7513 0.4511 MYPN rs71534278 10:68199417:C:T 10 68199417 C T 10:69959174 0.981955 269 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Coronary angiopasty 0.000146 1.6428 0.4325 MYPN rs7079481 10:68199485:C:A 10 68199485 C A 10:69959242 0.999944 91675 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of pericardium 0.000667 -0.2772 0.0814 Congenital malformations of the musculoskeletal system, not elsewhere classified 3.455e-05 0.427 0.103 DNA2 rs181679245 10:68419877:G:T 10 68419877 G T 10:70179634 0.982874 1078 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glomerular diseases 0.00115 -0.8 0.246 DNA2 rs147096750 10:68430491:C:A 10 68430491 C A 10:70190248 0.996544 4725 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Synovial hypertrophy, not elsewhere classified 0.000926 2.1603 0.6522 Problems related to employment and unemployment 0.0001419 26.698 7.017 DNA2 rs187660163 10:68437072:C:A 10 68437072 C A 10:70196829 0.993294 0.0155285 76 5629 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes 1.91e-05 0.1938 0.0453 Poisoning by narcotics and psychodysleptics [hallucinogens] 6.067e-05 38.97 9.718 TET1 rs117273115 10:68644831:G:A 10 68644831 G A 10:70404588 0.982807 9345 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular diseases of the intestine 0.000122 1.0626 0.2766 Falls/tendenct to fall 4.892e-05 3.065 0.755 TET1 rs144156611 10:68646990:A:G 10 68646990 A G 10:70406747 0.959957 925 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unknown and unspecified causes of morbidity 0.00123 1.5312 0.4737 STOX1 rs1341667 10:68882104:T:C 10 68882104 T C 10:70641860 0.999251 80529 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Glaucoma 0.000254 0.074 0.0202 Idiopathic gout 0.0003553 0.149 0.042 STOX1 rs10509305 10:68885620:A:C 10 68885620 A C 10:70645376 0.999913 70197 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting no assertion criteria provided no_Criteria Lichen planus 0.000162 0.1641 0.0435 Other disorders of the musculoskeletal system and connective tissue 0.0006139 0.18 0.052 KIF1BP rs2255607 10:68989028:G:A 10 68989028 G A 10:70748784 0.998704 88178 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Biomechanical lesions, not elsewhere classified 0.00137 -0.2274 0.071 Otherand unspecified haemorrhagic conditions 0.002378 0.333 0.11 KIF1BP rs62625033 10:69000515:T:C 10 69000515 T C 10:70760271 0.975185 1466 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Fracture at wrist and hand level 0.00193 -0.5387 0.1737 Congenital malformations of the respiratory system 0.0008987 147.861 44.53 SRGN rs67852477 10:69097207:C:G 10 69097207 C G 10:70856963 0.994709 6888 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Outcome of delivery 0.000911 -0.2759 0.0832 0.0008711 3.2 0.961 NEUROG3 rs4536103 10:69572448:A:G 10 69572448 A G 10:71332204 0.995814 83343 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes without complications 0.000104 -0.0639 0.0165 Keratitis 0.0005085 -0.055 0.016 NEUROG3 rs41277236 10:69572545:C:T 10 69572545 C T 10:71332301 0.956677 8871 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Isolated proteinuria with specified morphological lesion 0.000731 0.941 0.2786 Acidosis 0.0006561 13.059 3.833 COL13A1 rs144774788 10:69880518:G:A 10 69880518 G A 10:71640274 0.952825 2807 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Tongue (other cancers excluded from controls) 0.000604 2.0201 0.589 Abnormalities of forces of labour 0.0004635 13.368 3.818 COL13A1 rs41277962 10:69902751:G:A 10 69902751 G A 10:71662507 0.96442 0.00937701 50 3395 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pyothorax 9.27e-05 1.8626 0.4765 Pain (limb, back, neck, head abdominally) 0.0003708 -0.714 0.2 TYSND1 rs145700158 10:70146249:A:G 10 70146249 A G 10:71906005 0.952272 3239 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of scalp and neck 0.00153 1.6701 0.5269 Congenital malformations of the respiratory system 0.002456 41.119 13.576 EIF4EBP2 rs199798164 10:70404418:G:A 10 70404418 G A 10:72164174 0.963526 1077 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Anus and anal canal (other cancers excluded from controls) 0.000583 3.4783 1.0112 NODAL rs1904589 10:70435683:T:C 10 70435683 T C 10:72195439 0.998183 89321 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrophic cardiomyopathy 0.000695 0.2362 0.0696 0.0001034 0.09 0.023 PALD1 rs144523160 10:70533946:C:T 10 70533946 C T 10:72293702 0.938474 454 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conjunctivitis 0.000966 -0.7042 0.2134 Hirsutism 0.000128 446.553 116.586 PRF1 rs35947132 10:70600631:G:A 10 70600631 G A 10:72360387 0.994027 0.0328944 478 11607 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Familial hemophagocytic lymphohistiocytosis;Hemophagocytic lymphohistiocytosis, familial, 2;Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to;not provided;not specified Diabetic retinopathy 9.06e-06 -0.3565 0.0803 Fibromyalgia 5.46e-06 5.174 1.138 PRF1 rs141660796 10:70600821:G:A 10 70600821 G A 10:72360577 0.949057 0.00179647 2 658 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diaphragmatic hernia 5.84e-05 1.1527 0.2868 SGPL1 rs77130902 10:70877321:C:T 10 70877321 C T 10:72637078 0.978291 0.000571603 0 210 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteomyelitis 3.35e-05 7.4985 1.8077 SLC29A3 rs2277257 10:71322806:A:G 10 71322806 A G 10:73082563 0.99968 90406 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adjustment and management of implanted device 0.00211 0.1174 0.0382 Other and unspecified myopathies 0.001469 -0.142 0.045 SLC29A3 rs146423891 10:71322822:G:A 10 71322822 G A 10:73082579 0.912392 129 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified visual disturbances 0.000331 8.4974 2.3669 SLC29A3 rs780668 10:71351651:C:T 10 71351651 C T 10:73111408 0.99944 69296 missense_variant recessive Benign, drug response drug response criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of muscle and tendon at forearm level 0.000365 0.4269 0.1198 Injury of muscle and tendon at forearm level 0.0004273 0.261 0.074 SLC29A3 rs143557881 10:71351666:G:T 10 71351666 G T 10:73111423 0.998998 14934 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Histiocytosis-lymphadenopathy plus syndrome Allergic conjunctivitis 0.000341 -0.1504 0.042 Hidradenitis suppurativa 0.0001262 3.793 0.989 SLC29A3 rs147552838 10:71356177:C:T 10 71356177 C T 10:73115934 0.94838 209 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Deforming dorsopathies 0.000333 2.1639 0.603 SLC29A3 rs2252996 10:71356185:G:A 10 71356185 G A 10:73115942 0.999607 0.865578 275510 42493 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impacted cerumen 6.74e-05 -0.3338 0.0838 Impacted cerumen 4.251e-05 -0.191 0.047 SLC29A3 rs79737301 10:71362022:T:C 10 71362022 T C 10:73121779 0.970465 0.000827463 0 304 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter False labour 5.22e-05 1.8103 0.4475 SLC29A3 rs2487068 10:71362156:A:G 10 71362156 A G 10:73121913 0.991004 0.86134 272800 43646 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impacted cerumen 6.15e-05 -0.3339 0.0833 Impacted cerumen 3.62e-05 -0.193 0.047 SLC29A3 rs200004327 10:71362171:G:A 10 71362171 G A 10:73121928 0.857124 112 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Autoimmune diseases related-to ILD 0.000216 1.4343 0.3877 CDH23 rs1359892277 10:71397276:CCGAGG:C 10 71397276 CCGAGG C 10:73157033 0.995907 26486 pLoF both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic thrombocytopenic purpura 0.000222 0.576 0.156 Idiopathic thrombocytopenic purpura 6.924e-05 1.905 0.479 CDH23 rs7902757 10:71439838:C:T 10 71439838 C T 10:73199595 0.987841 8865 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified Other specified and unspecified retinal disorders 0.000236 1.0802 0.2938 Other assisted single delivery 0.0009366 11.003 3.325 CDH23 rs3802719 10:71511225:G:A 10 71511225 G A 10:73270982 0.997608 73812 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral aneurysm, nonruptured 0.000338 -0.2154 0.0601 Symptoms and signs involving the digestive system and abdomen 0.001824 -0.017 0.006 CDH23 rs143282422 10:71617355:G:A 10 71617355 G A 10:73377112 0.990733 581 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute laryngitis and tracheitis 0.000584 1.6956 0.4931 CDH23 rs111033369 10:71646475:G:A 10 71646475 G A 10:73406232 0.986591 987 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified Other complications of surgical and medical care, not elsewhere classified 0.000271 2.0698 0.5684 Disorders of brain, other and unspecified 0.0002091 330.342 89.095 CDH23 rs41281304 10:71646693:C:A 10 71646693 C A 10:73406450 0.992074 411 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified fall 0.000448 13.1387 3.7433 CDH23 rs1227049 10:71675131:G:C 10 71675131 G C 10:73434888 0.990064 77974 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified disease of Bartholin gland 0.00041 -0.2709 0.0767 Atopic dermatitis, strict definition with reimbursement 0.0004678 -0.096 0.027 CDH23 rs10999947 10:71675149:G:A 10 71675149 G A 10:73434906 0.996434 78033 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Examination and observation for other reasons 0.000779 -0.0561 0.0167 0.0004429 -0.057 0.016 CDH23 rs181255269 10:71694233:C:T 10 71694233 C T 10:73453990 0.992264 0.000495389 0 182 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Pediculosis, acariasis and other infestations 2.93e-05 10.4318 2.4965 CDH23 rs188498736 10:71702192:C:G 10 71702192 C G 10:73461949 0.983443 18363 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not specified Failed attempted abortion 0.00052 0.9602 0.2767 Failed attempted abortion 0.001531 3.368 1.063 CDH23 rs188098974 10:71705007:A:G 10 71705007 A G 10:73464764 0.948788 869 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Abscess of external ear 0.00063 5.3195 1.5561 Other secondary gonarthrosis 0.00104 77.523 23.638 CDH23 rs111033458 10:71705055:G:A 10 71705055 G A 10:73464812 0.951106 715 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Other postsurgical states 0.000237 3.5997 0.9793 Other and unspecified mononeuropathies of lower limb 0.0006293 133.216 38.968 CDH23 rs199510686 10:71712745:A:G 10 71712745 A G 10:73472502 0.981436 180 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic ulcer of skin, not elsewhere classified 0.00046 5.5592 1.5869 CDH23 rs2394838 10:71713111:C:G 10 71713111 C G 10:73472868 0.995255 0.143214 7668 44947 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of thorax 8.84e-06 0.6092 0.1371 0.0008375 0.295 0.088 CDH23 rs2166631 10:71713125:C:T 10 71713125 C T 10:73472882 0.995384 0.143195 7656 44952 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of thorax 1.26e-05 0.5975 0.1368 0.0008206 0.296 0.088 CDH23 rs41281314 10:71730514:A:G 10 71730514 A G 10:73490271 0.987563 85 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Cardiac arrhytmias, COPD co-morbidities 0.000315 1.3966 0.3877 CDH23 rs41281316 10:71730553:G:A 10 71730553 G A 10:73490310 0.993084 7084 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Lichen simplex chronicus 0.000378 1.0507 0.2955 Injury of muscle and tendon at wrist and hand level 0.001777 2.588 0.828 CDH23 rs149073355 10:71732116:A:G 10 71732116 A G 10:73491873 0.99173 879 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other arrhytmias 0.000708 -0.562 0.166 Disorder of external ear, unspecified 0.000817 100.362 29.986 CDH23 rs41281318 10:71732316:C:T 10 71732316 C T 10:73492073 0.956706 97 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other/unspecified rheumatoid arthritis 0.000301 6.0568 1.6759 CDH23 rs1227065 10:71732322:A:G 10 71732322 A G 10:73492079 0.99972 67787 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Degeneration of macula and posterior pole 0.00226 0.0786 0.0257 Anisometropia and aniseikonia 0.001633 0.192 0.061 CDH23 rs56181447 10:71738598:G:A 10 71738598 G A 10:73498355 0.972468 0.00536218 18 1952 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Keratitis and keratoconjunctivitis in other diseases classified elsewhere 1.89e-06 3.3079 0.6942 Acute appendicitis, no complications 0.001582 3.516 1.113 CDH23 rs1227051 10:71741799:G:A 10 71741799 G A 10:73501556 0.996711 70036 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Meniere disease 0.000535 0.166 0.0479 Anisometropia and aniseikonia 0.001371 0.194 0.061 C10orf54 rs3747869 10:71760875:A:C 10 71760875 A C 10:73520632 0.985137 56473 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Childhood asthma (age<16) (more controls excluded) 0.000481 0.1463 0.0419 Childhood asthma (age<16) (more controls excluded) 0.0008184 0.082 0.024 C10orf54 rs3747862 10:71773420:A:G 10 71773420 A G 10:73533177 0.992997 84898 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative proctitis 0.000202 -0.2158 0.0581 Parkinson's disease 0.0002524 0.138 0.038 CDH23 rs41281330 10:71777692:G:A 10 71777692 G A 10:73537449 0.997441 0.0117396 78 4235 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Lumbosacral root disorders, not elsewhere classified 7.66e-05 2.3048 0.5828 Antenatal screening 0.000311 1.753 0.486 CDH23 rs17712523 10:71777857:G:A 10 71777857 G A 10:73537614 0.994054 67273 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia due to Parkinsons disease 0.000473 0.3798 0.1087 Death due to cardiac causes 0.0003657 0.109 0.031 CDH23 rs3802711 10:71784329:G:A 10 71784329 G A 10:73544086 0.996807 0.206539 15638 60242 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal scars and opacities 3.53e-05 0.5281 0.1277 Corneal scars and opacities 7.362e-05 0.79 0.199 CDH23 rs74145660 10:71784336:C:G 10 71784336 C G 10:73544093 0.968546 335 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Burn and corrosion of ankle and foot 0.000625 11.4964 3.3608 CDH23 rs11592462 10:71790360:C:G 10 71790360 C G 10:73550117 0.999881 89636 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Urethral stricture 0.000753 0.2029 0.0602 Schizophrenia or delusion 2.283e-05 0.094 0.022 CDH23 rs10466026 10:71791212:G:A 10 71791212 G A 10:73550969 0.99992 82049 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter All-cause Heart Failure 0.000147 -0.0514 0.0135 Polyarteritis nodosa and related conditions 0.001471 0.46 0.145 CDH23 rs41281334 10:71798371:G:A 10 71798371 G A 10:73558128 0.995495 13241 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified Abnormal findings on antenatal screening of mother 0.000414 0.5289 0.1498 Other appendicitis 0.0005137 1.77 0.51 CDH23 rs4747194 10:71799129:G:A 10 71799129 G A 10:73558886 0.999872 81758 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter All-cause Heart Failure 0.000118 -0.0522 0.0136 Polyarteritis nodosa and related conditions 0.001255 0.47 0.146 CDH23 rs4747195 10:71799195:C:T 10 71799195 C T 10:73558952 0.999328 81726 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter All-cause Heart Failure 0.000139 -0.0517 0.0136 Polyarteritis nodosa and related conditions 0.001237 0.471 0.146 CDH23 rs41281338 10:71803310:G:C 10 71803310 G C 10:73563067 0.967613 1450 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified;not specified Dysplasia of cervi uteri 0.000478 0.7315 0.2094 Fracture of femur 0.0006227 12.229 3.574 CDH23 rs202052174 10:71803371:G:A 10 71803371 G A 10:73563128 0.879429 214 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pain in joint 0.000553 1.1556 0.3346 CDH23 rs45583140 10:71812008:T:C 10 71812008 T C 10:73571765 0.997442 0.0835248 2550 28136 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atypical Gaucher Disease;Combined saposin deficiency;Galactosylceramide beta-galactosidase deficiency;Metachromatic leukodystrophy;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified Endometriosis of rectovaginal septum and vagina 5.81e-05 0.3332 0.0829 Behavioural disorders (more controls excluded) 9.133e-05 2.482 0.634 CDH23 rs111033457 10:71813280:C:T 10 71813280 C T 10:73573037 0.981286 913 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter CDH23-Related Disorders;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified Benign neoplasm of middle ear and respiratory system 0.00175 1.8135 0.5794 Spinal instabilities 0.00157 54.844 17.348 CDH23 rs200124827 10:71815141:C:T 10 71815141 C T 10:73574898 0.938122 96 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other arterial embolism and thrombosis 0.00177 16.4061 5.248 CHST3 rs3740129 10:72008101:G:A 10 72008101 G A 10:73767859 0.987705 0.343893 43426 82916 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dorsopathies 1.76e-05 0.0395 0.0092 Fracture of neck 8.373e-05 -0.287 0.073 ASCC1 rs146370051 10:72133059:T:C 10 72133059 T C 10:73892817 0.982997 388 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of liver and intrahepatic bile ducts (other cancers excluded from controls) 0.000715 7.4702 2.2076 ASCC1 rs61758723 10:72210744:C:G 10 72210744 C G 10:73970502 0.91354 288 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rash and other nonspecific skin eruption 0.00433 2.4124 0.8455 MCU rs142030206 10:72885820:T:A 10 72885820 T A 10:74645578 0.959312 3333 stop_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other joint disorders 0.00119 -0.1631 0.0503 Somatoform disorder 0.0006082 5.462 1.593 MRPS16 rs117510230 10:73250877:G:C 10 73250877 G C 10:75010635 0.97038 681 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Combined oxidative phosphorylation deficiency;not provided;not specified Superficial injury of neck 0.00021 6.9213 1.8673 Other appendicitis 0.005176 20.064 7.176 MRPS16 rs7905009 10:73252003:A:G 10 73252003 A G 10:75011761 0.883195 219 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma mixed form (mode) (more controls excluded) 0.000161 7.5312 1.9959 PLAU rs2227580 10:73911598:G:T 10 73911598 G T 10:75671356 0.997852 2766 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Quebec platelet disorder Seborrhoeic dermatitis 0.00065 0.9536 0.2797 8.294e-05 1.296 0.329 PLAU rs55744193 10:73912301:G:A 10 73912301 G A 10:75672059 0.983969 2327 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hirschsprung disease 1;Quebec platelet disorder Toxic liver disease 0.000279 3.4802 0.9578 CR(E)ST syndrome 0.0004767 86.644 24.801 PLAU rs2227567 10:73913990:A:C 10 73913990 A C 10:75673748 0.988941 125 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epidural haemorrhage 0.000745 25.0242 7.4198 PLAU rs72816325 10:73915328:T:C 10 73915328 T C 10:75675086 0.913541 358 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other systemic involvement of connective tissue (FG) 0.000106 1.9005 0.4904 PLAU rs200165551 10:73916491:G:A 10 73916491 G A 10:75676249 0.946104 0.00120581 2 441 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other orthopaedic follow-up care 2.77e-05 4.491 1.0715 VCL rs141033098 10:74095667:A:C 10 74095667 A C 10:75855425 0.942387 300 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinal detachments and breaks 0.00135 1.3431 0.4191 VCL rs71579374 10:74100982:A:G 10 74100982 A G 10:75860740 0.97979 2021 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1W;Primary familial hypertrophic cardiomyopathy;not provided;not specified Hyperparathyroidism 0.000174 0.8074 0.2151 Coxarthrosis, primary, with hip surgery 0.0004682 4.676 1.337 VCL rs16931179 10:74111964:C:T 10 74111964 C T 10:75871722 0.986687 0.0263618 282 9403 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1W;Dilated cardiomyopathy 1W;Familial hypertrophic cardiomyopathy 15;not provided;not specified Valvular heart disease including rheumatic fever 3.54e-05 -0.1315 0.0318 Conjunctivitis (acute, non atopic) 0.0002805 1.479 0.407 KAT6B rs3740321 10:75029319:G:A 10 75029319 G A 10:76789077 0.98598 0.0283379 330 10081 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter KAT6B-Related Spectrum Disorders;not provided;not specified Gonarthrosis, primary, with knee surgery 1e-04 0.2266 0.0583 Hydrocele 0.0009084 1.59 0.479 KAT6B rs72803461 10:75029659:G:A 10 75029659 G A 10:76789417 0.995392 367 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormal findings of blood chemistry 0.000396 8.345 2.3557 C10orf11 rs35349706 10:76324426:C:T 10 76324426 C T 10:78084184 0.997383 0.00539212 10 1971 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Malignant neoplasm of small intestine (other cancers excluded from controls) 4.05e-05 3.6373 0.8862 Hypothyroidism, drug reimbursement 0.0002804 2.653 0.73 KCNMA1 rs754606765 10:77637469:CGAGGAGGAAGAG:C 10 77637469 CGAGGAGGAAGAG C 10:79397227 0.953453 4689 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Generalized epilepsy and paroxysmal dyskinesia;not specified Perichondritis of external ear 0.00415 1.4701 0.5129 Malignant neoplasm of bladder 0.0007601 5.646 1.677 KCNMA1 rs200474297 10:77637554:T:C 10 77637554 T C 10:79397312 0.964307 318 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of ocular muscles, binocular movement, accommodation and refraction 0.000345 1.2159 0.3397 DLG5 rs147733899 10:77806906:C:T 10 77806906 C T 10:79566664 0.933888 609 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for other known or suspected fetal problems 0.000461 1.2118 0.346 DLG5 rs146507058 10:77824421:C:T 10 77824421 C T 10:79584179 0.989608 4018 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glucoma-related operations 0.000417 1.3865 0.3929 0.0001716 0.741 0.197 DLG5 rs77492655 10:77830752:C:G 10 77830752 C G 10:79590510 0.962354 1631 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lactose intolerance, other/unspecified 0.00044 2.4848 0.7069 Suppurative otitis media, unspecified 0.001231 63.977 19.797 POLR3A rs143422889 10:77982179:C:T 10 77982179 C T 10:79741937 0.983845 527 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Later onset COPD 0.000186 1.7047 0.4561 POLR3A rs41274600 10:77982811:C:T 10 77982811 C T 10:79742569 0.97286 0.00213126 4 779 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypomyelinating leukodystrophy 7;Pol III-related leukodystrophy Traumatic subarachnoid haemorrhage 5.35e-05 5.5945 1.3848 Endometriosis 2.096e-05 5.127 1.205 POLR3A rs146253630 10:77986123:T:C 10 77986123 T C 10:79745881 0.902831 785 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pol III-related leukodystrophy;not provided;not specified Vitamin B12 deficiency anaemia 0.00096 1.6137 0.4887 Other specified congenital malformation syndromes affecting multiple systems 0.0001396 485.733 127.524 POLR3A rs34588967 10:78009889:C:A 10 78009889 C A 10:79769647 0.919481 0.00219114 4 801 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other demyelinating diseases of the central nervous system 4.49e-05 4.3905 1.0759 Isolated proteinuria with specified morphological lesion 0.0002947 246.023 67.964 SFTPA2 rs1965708 10:79557289:G:T 10 79557289 G T 10:81317045 0.991214 61536 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative colitis, NAS 0.000874 0.1442 0.0433 Dronedarone medication 0.001042 0.429 0.131 SFTPA2 rs17886395 10:79558907:C:G 10 79558907 C G 10:81318663 0.983103 44119 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of the respiratory system 0.000552 0.6027 0.1745 Other specified/unspecified inflammatory spondylopathies 0.000349 0.644 0.18 SFTPA2 rs147533125 10:79558924:C:T 10 79558924 C T 10:81318680 0.90176 591 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Habitual aborter 0.000356 7.1321 1.9975 Hypertensive diseases (excluding secondary) 7.95e-05 1.894 0.48 SFTPA2 rs192907309 10:79559336:C:G 10 79559336 C G 10:81319092 0.976363 12859 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Lactose intolerance 0.000532 0.7219 0.2084 Other noninfective disordersof lymphatic vessels and lymph nodes 0.0002869 4.417 1.218 SFTPA1 rs151242911 10:79612324:C:T 10 79612324 C T 10:81372080 0.812983 525 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other acute viral hepatitis 0.00081 8.5737 2.5599 Injuries to the shoulder and upper arm 7.947e-05 11.916 3.02 SFTPA1 rs1136452 10:79612410:C:G 10 79612410 C G 10:81372166 0.969366 1729 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Pyothorax 0.000454 2.2861 0.6519 Hypersensitivity pneumonitis due to organic dust 0.001276 64.187 19.925 SFTPA1 rs4253527 10:79614021:C:T 10 79614021 C T 10:81373777 0.99205 0.110061 4568 35867 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified inflammatory spondylopathies 7.71e-05 0.4163 0.1053 Impacted cerumen 1.047e-05 0.911 0.207 SFTPD rs3088308 10:79938112:A:T 10 79938112 A T 10:81697868 0.998793 19583 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Pilonidal cyst 0.000184 0.3575 0.0956 Human immunodeficiency virus [HIV] disease 0.0005239 2.691 0.776 SFTPD rs2243639 10:79941966:T:C 10 79941966 T C 10:81701722 0.991483 87383 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peripheral artery operations in Hilmo 0.000305 -0.1522 0.0422 Asthma and allergy 7.275e-05 0.103 0.026 SFTPD rs17878336 10:79942454:G:C 10 79942454 G C 10:81702210 0.983628 7480 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Anankastic personality disorder 0.00072 0.9359 0.2767 Monoplegia 0.0005487 14.327 4.146 SFTPD rs721917 10:79946568:A:G 10 79946568 A G 10:81706324 0.991219 88669 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impotence 0.000579 0.2412 0.0701 Asthma and allergy 0.001046 0.112 0.034 ANXA11 rs1802932 10:80157730:T:C 10 80157730 T C 10:81917486 0.991751 10218 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing spondylitis 0.000166 0.5097 0.1354 Lateral epicondylitis 0.00119 1.468 0.453 ANXA11 rs34414015 10:80162010:C:T 10 80162010 C T 10:81921766 0.973562 574 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of Bartholin gland 0.000769 4.9109 1.46 ANXA11 rs41310298 10:80166903:G:A 10 80166903 G A 10:81926659 0.992991 655 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified trigeminal disorders 0.000597 5.3274 1.5519 Bacterial meningitis 0.001005 79.39 24.137 NRG3 rs1884282 10:81878019:C:G 10 81878019 C G 10:83637775 0.993806 34706 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Malignant neoplasm of breast (other cancers excluded from controls) 0.00125 0.1075 0.0333 Diseases of the myoneural junction and muscle 0.001312 0.463 0.144 NRG3 rs138878772 10:82985465:G:A 10 82985465 G A 10:84745221 0.987944 0.00408015 4 1495 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Other/unspecified site 1.02e-06 6.0719 1.2425 Senile cataract 0.0008183 1.909 0.57 CDHR1 rs138182270 10:84195556:G:A 10 84195556 G A 10:85955312 0.99803 4352 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cone-Rod Dystrophy, Recessive Spontaneous abortion 0.000385 0.3539 0.0997 Personal history of certain other diseases 7.672e-05 33.11 8.373 CDHR1 rs12781048 10:84196512:C:A 10 84196512 C A 10:85956268 0.997837 5850 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cone-Rod Dystrophy, Recessive Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder (other cancers excluded from controls) 0.000165 1.1728 0.3113 Abnormalities of heart beat 0.0005267 2.037 0.587 CDHR1 rs147420731 10:84201837:C:T 10 84201837 C T 10:85961593 0.992313 302 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Femoral hernia 0.000644 5.1143 1.4987 CDHR1 rs146783539 10:84208342:C:T 10 84208342 C T 10:85968098 0.975985 246 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cyst of kidney 0.000506 5.4523 1.5678 CDHR1 rs137876961 10:84213176:A:G 10 84213176 A G 10:85972932 0.999147 0.00948044 38 3445 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;not provided;not specified Benign neoplasm: Other and unspecified parts of small intestine (other cancers excluded from controls) 2.03e-05 2.752 0.6457 Fibrosis and chirrhosis of liver 0.000525 14.088 4.063 CDHR1 rs45584033 10:84214475:C:T 10 84214475 C T 10:85974231 0.991636 25558 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;not specified Benign neoplasm: Skin of scalp and neck 0.000108 0.6743 0.1742 Medial epicondylitis 1.293e-05 1.906 0.437 RGR rs149516779 10:84252991:G:T 10 84252991 G T 10:86012747 0.983085 241 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Suppurative and unspecified otitis media 0.000457 1.3643 0.3892 RGR rs61730895 10:84257984:C:T 10 84257984 C T 10:86017740 0.991329 12074 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Recessive;not provided Enthesopathies of lower limb, excluding foot 0.000727 -0.2558 0.0757 Fracture at wrist and hand level 0.001605 0.757 0.24 LDB3 rs201693259 10:86680131:C:T 10 86680131 C T 10:88439888 0.984042 2928 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other disorders of iris and ciliary body 0.000423 2.0966 0.5947 Mental disorders, not otherwise specified 0.0002075 20.42 5.505 LDB3 rs35507268 10:86681466:G:A 10 86681466 G A 10:88441223 0.956391 2112 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Myofibrillar myopathy, ZASP-related;not specified Other bursitis, not elsewhere classified 0.000322 3.9989 1.1118 Other diseases of pancreas 0.0004543 35.254 10.054 LDB3 rs200596619 10:86681580:G:A 10 86681580 G A 10:88441337 0.983432 1831 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Left ventricular noncompaction cardiomyopathy;Myofibrillar myopathy, ZASP-related;not specified Generalized anxiety disorder 0.000815 0.8844 0.2642 Spontaneous rupture of synovium and tendon 0.000339 16.899 4.716 LDB3 rs730880128 10:86681646:C:G 10 86681646 C G 10:88441403 0.94533 230 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other diseases of arteries and capillaries 0.000606 4.194 1.2232 LDB3 rs45487699 10:86681680:C:T 10 86681680 C T 10:88441437 0.97534 355 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Generalized epilepsy 0.000791 2.4512 0.7304 LDB3 rs138951890 10:86716630:A:C 10 86716630 A C 10:88476387 0.99723 985 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Superficial injury of hip and thigh 0.000779 1.384 0.4119 LDB3 rs45577134 10:86726250:G:A 10 86726250 G A 10:88486007 0.89671 175 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sequelae of injuries, of poisoning and of other consequences of external causes 0.000315 2.5469 0.7069 BMPR1A rs11528010 10:86876022:C:A 10 86876022 C A 10:88635779 0.996537 83232 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal failure 0.000161 0.0899 0.0238 Other retinal disorders 0.0002045 0.065 0.017 BMPR1A rs587781332 10:86921569:C:T 10 86921569 C T 10:88681326 0.847812 328 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Personal history of other diseases and conditions 0.000317 3.8562 1.0708 PAPSS2 rs17173698 10:87709196:G:A 10 87709196 G A 10:89468953 0.994742 4710 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Degeneration of the brain due to alcohol 0.000185 1.7043 0.4559 Other specified/unspecified spondylopathies 0.0005913 13.227 3.85 PAPSS2 rs45467596 10:87727289:G:A 10 87727289 G A 10:89487046 0.951148 619 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Siatica+with lumbago 0.000758 0.8283 0.246 KLLN rs749052307 10:87862147:CCT:C 10 87862147 CCT C 10:89621904 0.970506 2006 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteomyelitis 0.000448 1.5007 0.4275 Other appendicitis 0.0002819 17.843 4.914 RNLS rs140158928 10:88581602:A:G 10 88581602 A G 10:90341359 0.955562 300 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathic psoriasis 0.000541 2.9944 0.8656 LIPF rs79058739 10:88675590:G:A 10 88675590 G A 10:90435347 0.997219 832 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of thyroid gland 0.000161 3.8041 1.0081 Asthma (mode) 0 4.572 0 LIPN rs150167048 10:88770944:G:A 10 88770944 G A 10:90530701 0.995532 873 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Motor disorders (more controls excluded) 0.00108 5.8126 1.7782 LIPN rs41284092 10:88778153:G:T 10 88778153 G T 10:90537910 0.993417 12132 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (Atypical or mixed) (more controls excluded) 0.000469 -0.6061 0.1733 Childhood asthma (age<16) (more controls excluded) 0.0003806 1.759 0.495 FAS rs56006128 10:89012010:G:A 10 89012010 G A 10:90771767 0.858064 141 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Conjunctiva 0.000474 12.6714 3.6254 LIPA rs1051339 10:89247582:C:T 10 89247582 C T 10:91007339 0.990487 0.0617222 1400 21276 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Wolman disease;not provided;not specified Benign neoplasm of middle ear and respiratory system 4.8e-05 -0.4464 0.1098 Perichondritis of external ear 0.001691 2.772 0.883 LIPA rs1051338 10:89247603:T:G 10 89247603 T G 10:91007360 0.996104 0.351892 45816 83465 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myocardial infarction, strict 7.61e-05 0.0762 0.0192 0.0002334 0.139 0.038 IFIT2 rs41284134 10:89306689:G:C 10 89306689 G C 10:91066446 0.995251 0.00537579 12 1963 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myasthenia gravis 4.45e-05 4.1037 1.0051 Spinal osteochondrosis 0.0009786 85.957 26.074 IFIT3 rs140549288 10:89339709:G:C 10 89339709 G C 10:91099466 0.998072 0.0058249 14 2126 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute appendicitis, with complications 4.75e-05 0.7251 0.1783 Spinal osteochondrosis 0.001365 65.039 20.312 SLC16A12 rs150800688 10:89439160:A:G 10 89439160 A G 10:91198917 0.996831 807 missense_variant dominant Uncertain significance VUS no assertion criteria provided no_Criteria Congenital ocular coloboma Other disorders of breast 0.00226 1.4274 0.4673 Complications associated with artificial fertilization 0.000902 84.887 25.573 SLC16A12 rs3740030 10:89462530:A:C 10 89462530 A C 10:91222287 0.99658 36855 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other demyelinating diseases of the central nervous system 0.000664 0.4014 0.1179 Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.0001431 0.163 0.043 HTR7 rs33954285 10:90743643:G:C 10 90743643 G C 10:92503400 0.969464 164 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erosion and ectropion of cervix uteri 0.000232 9.0752 2.4653 ANKRD1 rs35550482 10:90915565:G:A 10 90915565 G A 10:92675322 0.937141 267 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Otosclerosis 0.00016 3.9031 1.0338 Achilles tendinitis 0.007491 14.773 5.524 ANKRD1 rs201398260 10:90918901:G:T 10 90918901 G T 10:92678658 0.947856 1744 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter ANKRD1-related dilated cardiomyopathy;not provided;not specified Vasomotor and allergic rhinitis 0.000401 0.5069 0.1432 Oesophageal obstruction 0.0009398 82.238 24.861 ANKRD1 rs150797476 10:90920179:C:T 10 90920179 C T 10:92679936 0.909373 495 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Any death 0.000925 0.6905 0.2084 CYP26C1 rs201284617 10:93062161:A:C 10 93062161 A C 10:94821918 0.962076 7028 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Optic nerve hypoplasia Other and unspecidied mood [affective] disorders 0.000824 0.566 0.1692 Hemiplegia 0.0003779 4.051 1.139 CYP26C1 rs565866662 10:93064519:T:TCCATGCA 10 93064519 T TCCATGCA 10:94824276 0.990774 0.00580585 14 2119 pLoF recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Optic nerve hypoplasia Hyperlipidaemia, other/unspecified 1.16e-05 0.7493 0.1709 Sacrococcygeal disorders, not elsewhere classified 0.002222 42.093 13.761 MYOF rs201634420 10:93333904:G:A 10 93333904 G A 10:95093661 0.983049 1603 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Specific personality disorders 1e-04 0.7135 0.1834 Tic disorders (more controls excluded) 0.000196 317.319 85.208 MYOF rs150897152 10:93374950:G:A 10 93374950 G A 10:95134707 0.965164 577 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.000207 3.3979 0.9159 MYOF rs180853104 10:93431461:A:T 10 93431461 A T 10:95191218 0.973249 294 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal spermatozoa 0.00193 3.0904 0.9965 CEP55 rs141458677 10:93503185:C:T 10 93503185 C T 10:95262942 0.96147 172 pLoF recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Vocal cord dysfunction 0.00025 9.9721 2.7228 FFAR4 rs116454156 10:93587284:G:A 10 93587284 G A 10:95347041 0.988059 4686 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Body mass index quantitative trait locus 10 Benign neoplasm of brain and other parts of central nervous system 0.000603 0.8419 0.2454 0.00194 -0.747 0.241 FFAR4 rs115724324 10:93587293:A:G 10 93587293 A G 10:95347050 0.994788 12727 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other eating disorders 0.000134 0.6037 0.1581 Other lesions of median nerve 0.0004659 3.874 1.107 RBP4 rs116887052 10:93593847:G:T 10 93593847 G T 10:95353604 0.978642 270 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Benign neoplasm of brain and other parts of central nervous system (other cancers excluded from controls) 0.000613 4.2867 1.2513 Hypersensitivity pneumonitis due to organic dust 0.0005301 148.328 42.807 PDE6C rs701865 10:93622016:T:A 10 93622016 T A 10:95381773 0.997702 80931 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Supervision of normal pregnancy 0.000368 0.057 0.016 Hypertrophy of breast 8.694e-05 0.155 0.039 PDE6C rs45522236 10:93640937:G:T 10 93640937 G T 10:95400694 0.929468 5837 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone dystrophy 4 Biomechanical lesions, not elsewhere classified 0.000457 1.0467 0.2986 Unspecified diabetes with multiple/unspecified complications 0.0009453 10.77 3.257 PDE6C rs150112560 10:93658946:G:A 10 93658946 G A 10:95418703 0.994428 2503 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Normal-pressure hydrocephalus 0.000227 2.506 0.6797 Obstructive hydrocephalus 0.000831 100.439 30.051 LGI1 rs202204627 10:93758145:A:G 10 93758145 A G 10:95517902 0.991679 0.00695722 28 2528 start_lost dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epilepsy, lateral temporal lobe, autosomal dominant;not provided Episcleritis 8.58e-05 1.7159 0.4369 Disorders of lacrimal system 8.341e-05 5.2 1.322 PLCE1 rs17508082 10:94132372:T:A 10 94132372 T A 10:95892129 0.980818 11478 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephrotic syndrome;not provided;not specified Other joint disorders 0.000328 -0.0966 0.0269 Otitis externa, unspecified 0.001849 1.95 0.626 PLCE1 rs17417407 10:94171330:G:T 10 94171330 G T 10:95931087 0.998041 42288 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aortic aneurysm 0.000151 0.1885 0.0497 Other and unsepcified mononeuropathies, also in other diseases 0.0006571 0.747 0.219 PLCE1 rs61886330 10:94227423:G:T 10 94227423 G T 10:95987180 0.992215 1370 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified COPD (mode) 0.000701 0.674 0.1989 Otherand unspecified haemorrhagic conditions 0.00109 79.438 24.32 PLCE1 rs2274224 10:94279840:G:C 10 94279840 G C 10:96039597 0.999495 0.346144 44056 83113 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertension 9.31e-13 -0.0749 0.0105 Hypertensive diseases 3.275e-08 -0.06 0.011 PLCE1 rs3765524 10:94298541:C:T 10 94298541 C T 10:96058298 0.997169 0.210562 15970 61388 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertension 7.11e-05 -0.0487 0.0123 Hypertensive diseases (excluding secondary) 7.02e-05 -0.078 0.02 PLCE1 rs2274223 10:94306584:A:G 10 94306584 A G 10:96066341 0.996749 0.232049 19526 65726 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertension 4.68e-05 -0.0482 0.0118 Hypertensive diseases (excluding secondary) 7.374e-06 -0.08 0.018 HELLS rs148139900 10:94562691:G:A 10 94562691 G A 10:96322448 0.998272 1413 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Motor disorders (more controls excluded) 0.00046 5.4351 1.5516 0.0008325 96.165 28.777 CYP2C19 rs41291556 10:94775416:T:C 10 94775416 T C 10:96535173 0.999004 0.000933618 0 343 missense_variant recessive drug response drug response practice guideline Criteria_multSubmitter Polyarthropathies 2.28e-05 1.1019 0.2601 CYP2C19 rs58973490 10:94775507:G:A 10 94775507 G A 10:96535264 0.898571 275 missense_variant recessive no interpretation for the single variant not_provided no interpretation for the single variant none ILD, hospital admissions 3, with pneumonia sepsis 0.000172 5.2469 1.3967 CYP2C9 rs1799853 10:94942290:C:T 10 94942290 C T 10:96702047 0.99975 36690 missense_variant dominant drug response drug response reviewed by expert panel Criteria_multSubmitter Diseases of arteries, arterioles and capillaries 0.00012 -0.0958 0.0249 Localized scleroderma [morphea] 0.0005981 1.713 0.499 CYP2C9 rs28371685 10:94981224:C:T 10 94981224 C T 10:96740981 0.997196 1359 missense_variant dominant Likely benign, drug response drug response criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other symptoms and signs involving the nervous and musculoskeletal systems 0.000591 0.6199 0.1804 Other disorders of urethra and urinary system 0.0001108 4.879 1.262 CYP2C9 rs1057910 10:94981296:A:C 10 94981296 A C 10:96741053 0.999762 0.0615181 1498 21103 missense_variant dominant drug response drug response reviewed by expert panel Criteria_multSubmitter Antiinflammatory agents, non-steroids response - Toxicity/ADR;Glipizide response;Phenytoin response;Tolbutamide response;Warfarin response;Warfarin response;acenocoumarol response - Dosage, Toxicity/ADR;acenocoumarol response - Toxicity/ADR;celecoxib response - Dosage;celecoxib response - Toxicity/ADR;diclofenac response - Toxicity/ADR;not provided;warfarin response - Dosage;warfarin response - Toxicity/ADR Malignant neoplasm of eye and adnexa (other cancers excluded from controls) 2.84e-05 1.2081 0.2886 Duodenal ulcer 0.0001396 0.986 0.259 CYP2C8 rs10509681 10:95038992:T:C 10 95038992 T C 10:96798749 0.999933 0.108006 4370 35310 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Diseases of arteries, arterioles and capillaries 7.32e-05 -0.1002 0.0253 Suppurative and unspecified otitis media 0.0001856 0.245 0.066 CYP2C8 rs11572103 10:95058349:T:A 10 95058349 T A 10:96818106 0.996411 176 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Abnormal findings in nipple discharge synovial fluid wound secretions 0.00094 24.5733 7.4286 CYP2C8 rs1058930 10:95058362:G:C 10 95058362 G C 10:96818119 0.998719 20054 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria CYP2C8 POLYMORPHISM Malignant neoplasm of small intestine (other cancers excluded from controls) 0.000113 0.8506 0.2203 Erectile dysfunction 0.0005678 1.067 0.31 CYP2C8 rs41286886 10:95064901:C:T 10 95064901 C T 10:96824658 0.983222 0.00590384 12 2157 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiovascular diseases 9.41e-05 -0.2186 0.056 Presence of other functional implants 0.000252 5.727 1.565 CYP2C8 rs11572080 10:95067273:C:T 10 95067273 C T 10:96827030 0.999465 0.107845 4294 35327 missense_variant unknown no interpretation for the single variant not_provided no interpretation for the single variant none Diseases of arteries, arterioles and capillaries 6.98e-05 -0.1007 0.0253 Suppurative and unspecified otitis media 0.0001081 0.258 0.067 ALDH18A1 rs201069261 10:95621245:A:T 10 95621245 A T 10:97381002 0.994039 1238 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic thrombocytopenic purpura 0.000178 3.2922 0.8782 Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.001058 80.181 24.485 ALDH18A1 rs3765571 10:95626740:G:T 10 95626740 G T 10:97386497 0.99593 2216 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cutis laxa, autosomal dominant 3;Cutis laxa, recessive;Cutis laxa-corneal clouding-oligophrenia syndrome;Cutis laxa-corneal clouding-oligophrenia syndrome;Spastic paraplegia 9;not specified Non-allergic asthma (mode) (more controls excluded) 0.000375 0.6709 0.1886 Burns and corrosions of multiple and unspecified body regions 0.001326 67.148 20.916 ALDH18A1 rs2275272 10:95628405:G:A 10 95628405 G A 10:97388162 0.997492 47643 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mixed specific developmental disorders 0.000223 0.5828 0.1579 Complications associated with artificial fertilization 9.989e-05 1.192 0.306 TCTN3 rs141088838 10:95684564:C:T 10 95684564 C T 10:97444321 0.999863 3662 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Disorders of breast 0.000147 -0.3413 0.0899 Non-follicular lymphoma (other cancers excluded from controls) 0.0001893 8.004 2.144 TCTN3 rs200042949 10:95685579:T:C 10 95685579 T C 10:97445336 0.991222 185 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperkinetic disorders 0.000697 6.6272 1.9545 TCTN3 rs55859130 10:95685600:C:A 10 95685600 C A 10:97445357 0.999694 2241 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome 18;Orofacial-digital syndrome IV;not specified Non-allergic asthma (mode) (more controls excluded) 0.000399 0.6652 0.1879 Burns and corrosions of multiple and unspecified body regions 0.001342 66.838 20.843 TCTN3 rs749447795 10:95693450:T:G 10 95693450 T G 10:97453207 0.96771 286 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Fracture of rib(s), sternum and thoracic spine 0.000571 1.8133 0.5264 TCTN3 rs41291570 10:95693676:G:A 10 95693676 G A 10:97453433 0.999426 3576 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Disorders of breast 0.000302 -0.3273 0.0906 Non-follicular lymphoma (other cancers excluded from controls) 0.0001038 9.712 2.502 TCTN3 rs11553577 10:95693707:T:G 10 95693707 T G 10:97453464 0.998358 23259 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Plantar fascial fibromatosis 0.000136 -0.3221 0.0844 Autism spe 8.768e-06 3.011 0.677 TCTN3 rs41291572 10:95693946:A:C 10 95693946 A C 10:97453703 0.998205 0.0442666 712 15551 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Other prurigo 9.99e-05 1.474 0.3788 Obsessive-compulsive disorder 0.0003056 1.911 0.529 ENTPD1 rs192954755 10:95755766:G:A 10 95755766 G A 10:97515523 0.998012 7095 LC recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Spastic paraplegia 64, autosomal recessive Varicose veins 0.000195 0.1944 0.0522 Meralgia paraesthetica 0.003349 6.046 2.061 BLNK rs144826995 10:96200149:C:T 10 96200149 C T 10:97959905 0.916379 197 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Sacroiliitis, not elsewhere classified 0.000849 6.5102 1.9514 BLNK rs144266674 10:96204068:A:G 10 96204068 A G 10:97963824 0.998707 1926 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Agammaglobulinemia 4, autosomal recessive;not provided Other secondary coxarthrosis 0.000141 2.4657 0.6477 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0 4.07 0 BLNK rs148612299 10:96223879:C:A 10 96223879 C A 10:97983635 0.969764 1656 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Agammaglobulinemia 4, autosomal recessive;not provided;not specified Other disorders of glucose regulation and pancreatic internal secretion 0.000211 1.3984 0.3774 Disorders of brain, other and unspecified 0.0002477 269.654 73.583 BLNK rs143109144 10:96247009:C:G 10 96247009 C G 10:98006765 0.978725 313 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hereditary retinal dystrophy 0.000686 11.3918 3.3554 DNTT rs41291616 10:96324353:G:C 10 96324353 G C 10:98084110 0.996859 1297 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other coagulation defects 0.000491 1.8777 0.5387 Polyuria 0.0003887 14.207 4.005 OPALIN rs35821065 10:96349778:C:A 10 96349778 C A 10:98109535 0.948349 2146 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabethic neuropathy 0.000684 1.0441 0.3074 Abnormal findings on diagnostic imaging of other body structures 0.0003397 26.55 7.41 PIK3AP1 rs138047705 10:96645478:T:C 10 96645478 T C 10:98405235 0.950837 94 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyphaema and other vascular disorders of iris and ciliary body 0.0011 20.6707 6.3348 RRP12 rs138575147 10:97372752:T:C 10 97372752 T C 10:99132509 0.945169 77 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonitis due to solids and liquids 0.0011 13.565 4.1575 ANKRD2 rs36020819 10:97578505:C:T 10 97578505 C T 10:99338262 0.982237 2759 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neovascular glaucoma 0.000964 1.4794 0.4482 Other specified and unspecified disorders of eye and adnexa 0.0001563 24.021 6.354 HOGA1 rs202047589 10:97599780:C:T 10 97599780 C T 10:99359537 0.966903 149 missense_variant unknown Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Spinal stenosis 0.000513 1.5916 0.4581 HOGA1 rs185803104 10:97600168:G:T 10 97600168 G T 10:99359925 0.933582 334 LC unknown Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Single delivery by forceps and vacuum extractor 0.000416 1.9928 0.5646 ZFYVE27 rs140812293 10:97738539:C:T 10 97738539 C T 10:99498296 0.933668 1135 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;Spastic paraplegia 33, autosomal dominant;Spastic paraplegia, autosomal dominant;not specified Intracranial trauma 0.000821 -0.4594 0.1373 General examination and investigation of persons without complaint and reported diagnosis 0 5.898 0 ZFYVE27 rs17108378 10:97743140:G:A 10 97743140 G A 10:99502897 0.998383 7402 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;Spastic paraplegia, autosomal dominant;not specified Spermatocele 0.000621 0.6013 0.1757 Abnormal findings on diagnostic imaging of breast 0.000565 14.194 4.117 ZFYVE27 rs10882993 10:97744873:G:T 10 97744873 G T 10:99504630 0.999842 60698 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coronary atherosclerosis 0.00092 0.0563 0.017 Immunodeficiencies 0.001043 -0.148 0.045 ZFYVE27 rs35077384 10:97749494:G:T 10 97749494 G T 10:99509251 0.993341 649 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Spastic paraplegia;Spastic paraplegia 33, autosomal dominant;Spastic paraplegia, autosomal dominant;Spastic tetraparesis;not specified Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.000203 1.3499 0.3634 Melanocytic naevi of lip 0.0001376 421.597 110.585 HPS1 rs139061260 10:98418227:C:T 10 98418227 C T 10:100177984 0.995313 619 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinoschisis and retinal cysts 0.00146 5.5893 1.7567 HPS1 rs2296436 10:98420094:T:C 10 98420094 T C 10:100179851 0.997008 41472 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertension complicating pregnancy, childbirth, and the puerperium 0.000118 0.1119 0.0291 Dorsopathies 0.0003294 0.086 0.024 HPS1 rs2296434 10:98423813:G:C 10 98423813 G C 10:100183570 0.996934 41625 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertension complicating pregnancy, childbirth, and the puerperium 0.000114 0.1119 0.029 Toxic effect of carbon monoxide 0.0004163 1.246 0.353 HPS1 rs11592273 10:98429811:C:A 10 98429811 C A 10:100189568 0.977695 24618 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hermansky-Pudlak syndrome;Hermansky-Pudlak syndrome 1;not specified Disorders of lens 0.000115 -0.0919 0.0238 Synovial cyst of popliteal space [Baker] 0.0002661 1.084 0.297 HPS1 rs58548334 10:98443230:A:G 10 98443230 A G 10:100202987 0.994957 0.050644 1014 17592 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hermansky-Pudlak syndrome;not specified Foreign body in respiratory tract 5.35e-05 0.5748 0.1423 Small cell lung cancer 0.0004841 3.843 1.101 HPSE2 rs10883100 10:98459617:T:A 10 98459617 T A 10:100219374 0.999354 0.474017 82844 91304 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Visual field defects 8.6e-05 0.189 0.0481 Maternal care for other known or suspected fetal problems 0.0005981 -0.08 0.023 HPSE2 rs140066668 10:98459735:C:G 10 98459735 C G 10:100219492 0.985709 1387 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of skin of trunk 0.000773 3.9158 1.1646 Chrystal arthropathies, rheuma endpoint 0.000721 113.751 33.639 HPSE2 rs142102360 10:98721718:C:T 10 98721718 C T 10:100481475 0.880916 1162 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endocrine disorders, other/unspecified 0.000552 2.9756 0.8615 Hypertension, essential 1.03e-05 3.333 0.756 ENTPD7 rs1426598366 10:99698831:TG:T 10 99698831 TG T 10:101458588 0.979748 1289 pLoF unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Angina pectoris 0.000362 0.4469 0.1253 Portal vein thrombosis 0.0007709 92.809 27.597 COX15 rs2231687 10:99713461:A:G 10 99713461 A G 10:101473218 0.999739 36425 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative rectosigmoiditis 0.000396 -0.2659 0.075 Hereditary ataxia 0.0003421 -0.397 0.111 COX15 rs141506146 10:99729694:C:T 10 99729694 C T 10:101489451 0.969303 0.000645095 0 237 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of elbow 8.03e-05 6.3419 1.6082 ABCC2 rs56131651 10:99797306:G:A 10 99797306 G A 10:101557063 0.995684 2103 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Undefined dementia 0.0016 0.8506 0.2695 Leiomyoma of uterus (other cancers excluded from controls) 0.0003036 2.608 0.722 ABCC2 rs2273697 10:99804058:G:A 10 99804058 G A 10:101563815 0.999952 50694 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other symptoms and signs involving general sensations and perceptions 0.00028 -0.3691 0.1016 Haemorrhagic and haematological disorders of fetus and newborn 0.000291 1.182 0.326 ABCC2 rs17222561 10:99805400:A:G 10 99805400 A G 10:101565157 0.997935 5111 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Spondylosis 3e-04 0.2777 0.0768 Pain (limb, back, neck, head abdominally) 0.001555 -0.508 0.161 ABCC2 rs146405172 10:99811603:G:A 10 99811603 G A 10:101571360 0.989899 2432 pLoF recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter not provided Atopic conjunctivitis 0.000144 1.7515 0.4608 Other and unspecified immunodeficiencies with predominantly antibody defects 0.0007421 110.584 32.78 ABCC2 rs17222617 10:99819195:T:G 10 99819195 T G 10:101578952 0.998208 14955 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dubin-Johnson syndrome Visual field defects 0.000198 0.447 0.1201 Failed induction of labour 0.0004756 2.734 0.783 ABCC2 rs41318029 10:99830729:G:A 10 99830729 G A 10:101590486 0.950603 1879 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal serum enzyme levels 0.000182 0.7374 0.1971 Generalized epilepsy 2.25e-05 53.338 12.584 ABCC2 rs45441199 10:99831980:T:C 10 99831980 T C 10:101591737 0.990558 1276 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Dislocation, sprain and strain of joints and ligaments at neck level 0.00132 0.9967 0.3103 Other vitreous opacities 0.001458 60.928 19.142 ABCC2 rs72558199 10:99832069:C:T 10 99832069 C T 10:101591826 0.949958 133 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Childhood asthma (age<16) (more controls excluded) 0.000166 4.0347 1.0715 ABCC2 rs145672804 10:99832109:G:A 10 99832109 G A 10:101591866 0.97041 0.000685923 0 252 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Intestinal adhesions without obstruction 8.76e-05 4.9763 1.2687 ABCC2 rs8187692 10:99836218:G:T 10 99836218 G T 10:101595975 0.989388 124 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nutritional anaemias 0.000414 2.2206 0.6289 ABCC2 rs17222723 10:99836239:T:A 10 99836239 T A 10:101595996 0.999894 0.0251151 304 8923 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dubin-Johnson syndrome Malignant neoplasm of testis 6.46e-05 1.6122 0.4035 Combined immunodeficiencies 0.001778 8.29 2.653 ABCC2 rs142573385 10:99850718:C:T 10 99850718 C T 10:101610475 0.992951 626 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Finngen Rheumatological endpoints 0.000155 0.4234 0.1119 ABCC2 rs8187710 10:99851537:G:A 10 99851537 G A 10:101611294 0.999995 0.0252485 310 8966 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dubin-Johnson syndrome Malignant neoplasm of testis 7.04e-05 1.5961 0.4015 Combined immunodeficiencies 0.001836 8.163 2.62 CPN1 rs61751507 10:100069757:C:T 10 100069757 C T 10:101829514 0.9989 0.038428 628 13490 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anaphylotoxin inactivator deficiency;not specified Peripheral angiopathy 4.83e-05 1.3505 0.3323 Myeloproliferative diseases 0.0005228 2.123 0.612 CWF19L1 rs7073610 10:100246868:G:A 10 100246868 G A 10:102006625 0.996702 17786 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Benign neoplasm: Cranial nerves 0.000879 0.6634 0.1994 Pain (limb, back, neck, head abdominally) 0.0002351 0.182 0.05 CWF19L1 rs2270962 10:100256287:C:T 10 100256287 C T 10:102016044 0.999784 37924 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria Problems related to social environment 0.00238 -0.3751 0.1235 Pain in thoracic spine 0.0002127 0.379 0.102 PKD2L1 rs117403721 10:100329878:C:A 10 100329878 C A 10:102089635 0.854428 195 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Invasive ventilation 0.000225 8.191 2.22 SCD rs150416868 10:100348179:C:G 10 100348179 C G 10:102107936 0.993925 3131 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic conjunctivitis 0.000526 1.3583 0.3918 Other disorders of eyelid 0.0007339 4.63 1.371 SEMA4G rs146245319 10:100983388:C:T 10 100983388 C T 10:102743145 0.989832 2375 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Giant cell arteritis with polymyalgia rheumatica 0.000445 2.0663 0.5884 Complications following infusion, transfusion and therapeutic injection 0.001069 80.787 24.692 C10orf2 rs17113613 10:100989312:G:A 10 100989312 G A 10:102749069 0.99568 10842 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;not provided;not specified Malignant neoplasm of larynx 0.000239 1.3749 0.3742 Tongue abnormality 0.001203 2.94 0.908 C10orf2 rs80356540 10:100990474:A:G 10 100990474 A G 10:102750231 0.993035 803 missense_variant unknown Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.000321 0.7083 0.1969 C10orf2 rs369223258 10:100993505:A:C 10 100993505 A C 10:102753262 0.978364 55 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ankylosing spondylitis 0.000166 9.3621 2.4855 PDZD7 rs112571971 10:101015772:C:T 10 101015772 C T 10:102775529 0.961226 11456 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Non-allergic asthma 0.000179 0.3153 0.0842 Disorders of other endocrine glands 0.0005335 0.795 0.23 PDZD7 rs141181035 10:101018210:A:G 10 101018210 A G 10:102777967 0.861334 173 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility, tubal origin 0.000637 6.7648 1.9808 PDZD7 rs200592310 10:101019175:C:T 10 101019175 C T 10:102778932 0.885755 444 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Ankylosing spondylitis, strict definition 0.000233 5.6787 1.5429 0.0006901 270.96 79.847 PDZD7 rs118098246 10:101022356:A:T 10 101022356 A T 10:102782113 0.905496 399 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other special examinations and investigations of persons without complaint or reported diagnosis 0.000464 -0.4773 0.1364 PDZD7 rs6584410 10:101023921:T:C 10 101023921 T C 10:102783678 0.981853 91462 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pure hyperglyceridaemia 0.000718 0.3647 0.1078 Alcoholic gastritis 0.001054 0.261 0.08 FBXW4 rs560966094 10:101694600:G:GCCT 10 101694600 G GCCT 10:103454357 0.906912 1176 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Split-Hand/Foot Malformation Special screening examination for infectious and parasitic diseases 0.000138 0.7609 0.1996 Post-traumatic stress disorder 0.0018 43.263 13.86 FBXW4 rs111600818 10:101694634:C:G 10 101694634 C G 10:103454391 0.988364 11539 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Split-Hand/Foot Malformation;not specified Gonarthrosis 0.000691 0.1237 0.0365 Congenital obstructive defects of renal pelvis and congenital malformations of ureter 0.0003596 6.828 1.914 FGF8 rs762175290 10:101775182:T:TCCCTGCCCAGCGCAGGGC 10 101775182 T TCCCTGCCCAGCGCAGGGC 10:103534939 0.873532 387 inframe_indel dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Behavioural disorders 0.000372 7.6352 2.1452 HPS6 rs371307947 10:102065811:C:T 10 102065811 C T 10:103825568 0.960314 796 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic thrombocytopenic purpura 0.000279 4.0338 1.11 HPS6 rs199816481 10:102065872:C:T 10 102065872 C T 10:103825629 0.984825 5984 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hermansky-Pudlak syndrome;not provided Cervical root disorders 0.00179 1.8983 0.6078 Other specified and unspecified strabismus 9.189e-05 32.72 8.366 NOLC1 rs116928523 10:102152452:G:A 10 102152452 G A 10:103912209 0.991252 5341 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of endocrine gland 0.000937 0.6801 0.2055 Degeneration of nervous system due to alcohol 0.000478 14.622 4.186 NFKB2 rs202001697 10:102399458:C:T 10 102399458 C T 10:104159215 0.851705 482 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hallux valgus (acquired) 0.000117 1.15 0.2986 NFKB2 rs200227171 10:102400429:G:A 10 102400429 G A 10:104160186 0.997173 622 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of respiratory system and intrathoracic organs (other cancers excluded from controls) 0.00156 1.5394 0.4868 NFKB2 rs200092317 10:102400682:G:A 10 102400682 G A 10:104160439 0.986506 2802 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Common variable immunodeficiency 10 Endometriosis of uterus 0.000656 -0.7227 0.2121 Dorsopathies 0.0001369 1.418 0.372 NFKB2 rs199577673 10:102401275:G:A 10 102401275 G A 10:104161032 0.992312 329 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified types of non-Hodgkin lymphoma 0.000363 5.9615 1.672 PSD rs146615059 10:102403972:C:T 10 102403972 C T 10:104163729 0.971723 609 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ptosis of eyelid 0.000522 2.1886 0.6309 SUFU rs34135067 10:102599540:G:T 10 102599540 G T 10:104359297 0.999458 0.0106236 42 3861 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gorlin syndrome;Hereditary cancer-predisposing syndrome;Medulloblastoma;not provided;not specified Follow-up examination after treatment for conditions other than malignant neoplasms 6.67e-05 0.3023 0.0758 Congenital malformations of aortic and mitral valves 9.02e-05 32.279 8.244 CYP17A1 rs61754263 10:102837300:C:T 10 102837300 C T 10:104597057 0.990441 0.000982612 2 359 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maltreatment syndromes 6.28e-05 6.2528 1.5625 CNNM2 rs76057237 10:102918593:G:A 10 102918593 G A 10:104678350 0.997486 0.056028 1146 19438 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Renal Hypomagnesemia, Dominant Anomalies of pupillary function 8.77e-05 1.0129 0.2582 COPD 0.001446 0.432 0.136 NT5C2 rs10883841 10:103174952:T:C 10 103174952 T C 10:104934709 0.997549 48530 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertensive diseases 0.00017 0.0509 0.0135 Ulcerative colitis (strict definition, require KELA, min 2 HDR) 0.0003243 0.282 0.079 PCGF6 rs113359610 10:103350983:A:AGGAGGC 10 103350983 A AGGAGGC 10:105110740 0.989569 91058 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of thyroid gland (other cancers excluded from controls) 0.000462 0.2641 0.0754 Benign neoplasm of thyroid gland (other cancers excluded from controls) 5.27e-05 0.24 0.059 TAF5 rs142451092 10:103379720:G:A 10 103379720 G A 10:105139477 0.87482 252 missense_variant unknown not provided not_provided no assertion provided none Infections of breast associated with childbirth 0.000236 9.1465 2.4873 SH3PXD2A rs3781365 10:103602114:C:T 10 103602114 C T 10:105361871 0.986005 2602 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary hypertension 0.000492 1.0159 0.2915 Open wound of forearm 0.0006116 12.769 3.727 SH3PXD2A rs79061932 10:103602154:G:A 10 103602154 G A 10:105361911 0.92855 1193 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.00022 5.9713 1.6159 OBFC1 rs145781517 10:103900158:C:T 10 103900158 C T 10:105659916 0.9913 12477 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperprolactinaemia 0.000553 0.6381 0.1848 Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 6.896e-05 0.739 0.186 COL17A1 rs146841330 10:104032959:G:A 10 104032959 G A 10:105792717 0.986015 183 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Idiopathic pulmonary fibrosis (attempt to specificity) 0.00286 4.4262 1.4841 COL17A1 rs17116350 10:104033992:T:C 10 104033992 T C 10:105793750 0.994584 69825 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tinnitus 0.000989 -0.1051 0.0319 Hyperlipidaemia, other/unspecified 0.0004707 -0.123 0.035 COL17A1 rs147631156 10:104037638:C:T 10 104037638 C T 10:105797396 0.899361 0.000552549 0 203 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other diseases of the digestive system 8.14e-05 1.7467 0.4433 COL17A1 rs805722 10:104050642:T:C 10 104050642 T C 10:105810400 0.998915 67240 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myocarditis 0.000102 -0.2608 0.0671 Benign neoplasms (other cancers excluded from controls) 0.0001226 -0.024 0.006 COL17A1 rs200223042 10:104057101:C:A 10 104057101 C A 10:105816859 0.979788 1462 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysis bullosa, junctional Other diseases of intestines 0.000417 0.2647 0.075 Cardiac arrhytmias, COPD co-morbidities 0 5.882 0 COL17A1 rs149983875 10:104057104:C:T 10 104057104 C T 10:105816862 0.848025 259 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dronedarone medication 0.000184 7.4734 1.998 COL17A1 rs805697 10:104057134:C:T 10 104057134 C T 10:105816892 0.97889 0.00661426 26 2404 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysis bullosa, junctional Hypertension 6.73e-05 0.2459 0.0617 Other and/or unspecified nontoxic goitre 0.0004074 14.421 4.079 COL17A1 rs805698 10:104057158:C:T 10 104057158 C T 10:105816916 0.999119 0.952418 333294 16613 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leiomyoma of uterus 2.19e-21 -0.316 0.0333 Leiomyoma of uterus 8.778e-21 -0.162 0.017 COL17A1 rs805708 10:104064575:G:A 10 104064575 G A 10:105824333 0.998886 80507 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasms (other cancers excluded from controls) 0.000424 -0.0329 0.0093 Leiomyoma of uterus (other cancers excluded from controls) 4.95e-05 -0.042 0.01 CFAP43 rs117628923 10:104132169:G:C 10 104132169 G C 10:105891927 0.974033 4971 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chron's disease NAS 0.000805 0.7757 0.2315 Other diseases of stomach and duodenum 0.0001845 8.454 2.261 CFAP43 rs138801737 10:104166556:A:C 10 104166556 A C 10:105926314 0.998363 0.00846244 26 3083 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deviated nasal septum 3.08e-05 0.4804 0.1153 Other and unspecified disorders of psychological development 0.0008897 93.532 28.145 CFAP43 rs35021397 10:104187489:G:A 10 104187489 G A 10:105947247 0.992561 506 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of nervous system 0.000901 3.1523 0.9495 CFAP43 rs41291844 10:104207815:C:A 10 104207815 C A 10:105967573 0.971348 231 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinal enthesopathy 0.000622 6.307 1.8431 CFAP43 rs117768807 10:104212153:C:T 10 104212153 C T 10:105971911 0.923196 584 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of ankle and foot 0.000656 8.8037 2.5837 GSTO1 rs72559704 10:104254948:G:A 10 104254948 G A 10:106014706 0.992836 4458 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of colon, rectum, anus and anal canal (other cancers excluded from controls) 0.000278 0.297 0.0817 0.0002817 19.215 5.291 GSTO1 rs116993524 10:104266106:C:T 10 104266106 C T 10:106025864 0.994058 651 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizotypal disorder 0.000549 2.6937 0.7795 SORCS3 rs562822100 10:104641362:G:A 10 104641362 G A 10:106401120 0.996055 5537 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of uterus, except cervix 0.000424 0.3474 0.0986 Mental and behabioural disorders of puerperum, not classified elsewhere (more controls excluded) 5.223e-05 39.64 9.799 SORCS3 rs41291854 10:105262402:G:A 10 105262402 G A 10:107022160 0.971241 1747 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicocranial syndrome 0.000222 1.2566 0.3403 Postydysenteric arthropathy 0.000286 250.928 69.171 SMC3 rs142524280 10:110584371:A:G 10 110584371 A G 10:112344129 0.997064 1106 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cornelia de Lange Syndrome;Cornelia de Lange syndrome 3;History of neurodevelopmental disorder Drug-induced hypoglycaemia without coma 0.000403 4.531 1.2806 Other diseases of spinal cord 0.0003093 222.338 61.635 RBM20 rs61735268 10:110781304:G:A 10 110781304 G A 10:112541062 0.980665 169 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Proliferative diabetic retinopathy 0.000268 1.6854 0.4624 RBM20 rs189569984 10:110784367:C:T 10 110784367 C T 10:112544125 0.995331 502 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1DD;Primary dilated cardiomyopathy;not provided;not specified Mental disorders, not otherwise specified 0.000246 2.7352 0.746 Injury of nerves at lower leg level 0.0001464 460.4 121.248 RBM20 rs727505310 10:110812355:C:T 10 110812355 C T 10:112572113 0.919311 449 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other obstructed labour 0.000691 3.9882 1.1753 RBM20 rs201370621 10:110821281:G:A 10 110821281 G A 10:112581039 0.989477 7007 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Cardiovascular phenotype;Dilated cardiomyopathy 1DD;Primary dilated cardiomyopathy;not provided;not specified Statin medication 0.00131 0.113 0.0351 Divergent concomitant strabismus 0.0006562 3.466 1.017 RBM20 rs942077 10:110835961:G:C 10 110835961 G C 10:112595719 0.989987 42749 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other degenerative diseases of the nervous system 0.00135 -0.1067 0.0333 Wide developmental disorders 0.001878 -0.219 0.07 SHOC2 rs201289608 10:110964693:T:C 10 110964693 T C 10:112724451 0.98744 0.00205505 0 755 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Transplanted organ and tissue status 2.6e-05 2.6424 0.6282 TCF7L2 rs77673441 10:113165647:C:G 10 113165647 C G 10:114925406 0.863096 844 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of forces of labour 0.00259 1.3446 0.4462 Injury of intra-abdominal organs 0.000492 139.392 39.997 HABP2 rs61867369 10:113567514:G:T 10 113567514 G T 10:115327273 0.951699 128 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specified/unspecified inflammatory spondylopathies 0.00104 7.6553 2.3351 HABP2 rs3740530 10:113574365:C:T 10 113574365 C T 10:115334124 0.999837 83242 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contraceptive management 0.000487 0.055 0.0158 Contraceptive management 0.001493 0.034 0.011 HABP2 rs11575688 10:113583298:G:C 10 113583298 G C 10:115343057 0.994579 892 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other complications of surgical and medical care, not elsewhere classified 0.000149 2.4488 0.6455 HABP2 rs7080536 10:113588287:G:A 10 113588287 G A 10:115348046 0.992245 9926 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM;Factor VII Marburg I Variant Thrombophilia;THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO;Venous thromboembolism, susceptibility to Melanocytic naevi of other and unspecified parts of face 0.000549 0.5987 0.1733 Unspecified chronic bronchitis 0.0001771 5.458 1.456 NRAP rs142929241 10:113588989:CCTT:C 10 113588989 CCTT C 10:115348748 0.97279 0.000345684 0 127 inframe_indel unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other meningitis 1.94e-05 36.806 8.6157 NRAP rs139118719 10:113614862:C:T 10 113614862 C T 10:115374621 0.865665 195 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes, several complications 0.000332 1.9857 0.5533 NRAP rs150955833 10:113617465:T:G 10 113617465 T G 10:115377224 0.981372 298 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathies 0.000358 0.5042 0.1413 NHLRC2 rs201701259 10:113876631:G:T 10 113876631 G T 10:115636390 0.97589 0.00230002 0 845 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Respiratory tuberculosis 2.73e-05 2.862 0.6823 ADRB1 rs1801252 10:114044277:A:G 10 114044277 A G 10:115804036 0.999686 0.181778 12252 54531 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other demyelinating diseases of the central nervous system 1.83e-06 0.4744 0.0994 Other demyelinating diseases of the central nervous system 8.537e-06 0.744 0.167 VWA2 rs75028145 10:114255010:A:T 10 114255010 A T 10:116014769 0.984475 6368 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 3e-04 0.3249 0.0899 0.0003011 2.883 0.798 VWA2 rs79009215 10:114286037:G:A 10 114286037 G A 10:116045796 0.968819 6773 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of lateral popliteal nerve 0.000674 0.8661 0.2547 0.0006475 -0.498 0.146 VWA2 rs45560935 10:114290299:G:C 10 114290299 G C 10:116050058 0.941587 515 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atypical mycobacterium lung infection 0.000116 11.2147 2.9103 KCNK18 rs150240997 10:117209553:GCT:G 10 117209553 GCT G 10:118969064 0.932804 199 pLoF unknown Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Superficial injury of wrist and hand 0.000111 3.5338 0.9143 EMX2 rs766989996 10:117543426:GGCCGCC:G 10 117543426 GGCCGCC G 10:119302937 0.886465 233 inframe_indel unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteonecrosis 0.000991 6.2325 1.8926 GRK5 rs55980792 10:119423182:C:T 10 119423182 C T 10:121182694 0.96562 1601 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Brain, supratentorial 0.00206 3.0887 1.0025 Lumbosacral root disorders, not elsewhere classified 0.0008936 89.147 26.835 BAG3 rs35434411 10:119669882:G:A 10 119669882 G A 10:121429394 0.995072 0.035766 474 12666 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Dilated cardiomyopathy 1HH;Myofibrillar Myopathy, Dominant;Myofibrillar myopathy, BAG3-related;Myofibrillar myopathy, BAG3-related;not provided;not specified Certain infectious and parasitic diseases 8.24e-05 0.0832 0.0211 Nummular dermatitis 0.0005263 2.12 0.611 BAG3 rs2234962 10:119670121:T:C 10 119670121 T C 10:121429633 0.99553 0.221823 18100 63395 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonischemic cardiomyopathy 9e-09 -0.4003 0.0696 7.74e-05 -0.202 0.051 BAG3 rs61756328 10:119670133:G:A 10 119670133 G A 10:121429645 0.954607 482 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Viral infections characterized by skin and mucous membrane lesions 0.00021 1.3177 0.3555 BAG3 rs3858340 10:119676774:C:T 10 119676774 C T 10:121436286 0.997989 0.102562 3970 33710 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy 4.09e-06 0.2344 0.0509 Benign neoplasm of thyroid gland (other cancers excluded from controls) 0.0009001 0.987 0.297 SEC23IP rs148955366 10:119898888:C:T 10 119898888 C T 10:121658400 0.993476 11578 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Juvenile rheuma 0.00158 0.8274 0.2619 Foreign body in ear 0.0002295 8.119 2.204 WDR11 rs34304988 10:120866640:G:A 10 120866640 G A 10:122626152 0.995525 0.00113232 0 416 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary uncertain malignant neoplasm 4.51e-05 2.8837 0.7068 WDR11 rs117848117 10:120871300:G:A 10 120871300 G A 10:122630812 0.964699 2019 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other embolism and thrombosis 0.000327 0.9534 0.2654 Ankylosing hyperostosis [Forestier] 0.0008334 98.059 29.346 WDR11 rs74870997 10:120904077:G:A 10 120904077 G A 10:122663589 0.994152 0.00139634 0 513 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epidural haemorrhage 7.89e-05 12.6146 3.1955 FGFR2 rs755793 10:121551357:A:G 10 121551357 A G 10:123310871 0.99824 9969 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Crouzon syndrome;FGFR2 related craniosynostosis;not provided;not specified Genitourinary diseases 0.000721 -0.0738 0.0218 Separation of retinal layers (serosa) 0.001975 3.83 1.238 TACC2 rs151218566 10:122083240:A:C 10 122083240 A C 10:123842755 0.955866 875 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebral aneurysm, nonruptured 0.00102 1.9714 0.6 Superficial injury of hip and thigh 0.0004729 12.593 3.602 TACC2 rs61753073 10:122085600:G:A 10 122085600 G A 10:123845115 0.938492 522 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of sciatic nerve 0.000166 3.5057 0.931 TACC2 rs141300976 10:122087188:C:G 10 122087188 C G 10:123846703 0.923141 591 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Entropion and trichiasis of eyelid 0.000258 3.0637 0.8385 Non-small cell lung cancer, squamous 0.0001718 553.631 147.352 ARMS2 rs10490923 10:122454735:G:A 10 122454735 G A 10:124214251 0.997182 0.0893905 2872 29969 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular degeneration Wet age-related macular degeneration 3.09e-06 -0.3185 0.0683 Vasomotor and allergic rhinitis 0.0002494 0.299 0.082 ARMS2 rs2736911 10:122454839:C:T 10 122454839 C T 10:124214355 0.998665 0.159891 9628 49114 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Wet age-related macular degeneration 1.62e-08 -0.3052 0.054 Inflammatory diseases of prostate (prostatitis) 9.488e-05 0.345 0.088 ARMS2 rs10490924 10:122454932:G:T 10 122454932 G T 10:124214448 0.999773 0.243448 21752 67688 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Age-related macular degeneration (whether dry or wet) 6.25e-118 0.8342 0.0361 Age-related macular degeneration (whether dry or wet) 1.186e-102 1.083 0.05 ACADSB rs12263012 10:123009067:G:A 10 123009067 G A 10:124768583 0.996335 0.434086 68946 90532 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diffuse brain injury 2.71e-05 0.2745 0.0654 Specific development disorders of speech and language 0.0004339 -0.189 0.054 ACADSB rs58639322 10:123040605:C:T 10 123040605 C T 10:124800121 0.983989 170 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Bacterial pneumonia, not elsewhere classified 0.000269 2.0365 0.559 ACADSB rs1131430 10:123047254:A:G 10 123047254 A G 10:124806770 0.997538 18900 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of 2-methylbutyryl-CoA dehydrogenase Otitis externa, unspecified 0.000741 0.3502 0.1038 Hyperkinetic disorders 6.464e-05 2.173 0.544 OAT rs121965043 10:124398057:A:G 10 124398057 A G 10:126086626 0.992305 1060 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Autonomic disorders 0.000393 4.5602 1.2865 CTBP2 rs775817587 10:125027234:CCT:C 10 125027234 CCT C 10:126715803 0.944192 649 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of pancreas 0.00159 2.7801 0.8806 MMP21 rs28381302 10:125770525:T:C 10 125770525 T C 10:127459094 0.993044 3881 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adult respiratory distress syndrome 0.000293 2.9946 0.8269 Polyuria 0.002587 3.334 1.106 MMP21 rs147007817 10:125775721:G:A 10 125775721 G A 10:127464290 0.947994 186 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified nerve root and plexus disorders, also in other diseases 0.000345 3.1767 0.8876 UROS rs17173752 10:125796152:A:C 10 125796152 A C 10:127484721 0.987684 1565 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter conjunctival haemorrhage 0.000773 1.6214 0.4822 UROS rs117926090 10:125807469:T:A 10 125807469 T A 10:127496038 0.952279 1643 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital erythropoietic porphyria Keratitis 0.00024 0.6337 0.1725 Excessive, freguent and irrelgular menstruation 2.971e-05 1.877 0.449 FANK1 rs17153976 10:126009428:G:T 10 126009428 G T 10:127697997 0.933493 4563 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deviated nasal septum 0.000334 0.3432 0.0957 Synovial cyst of popliteal space [Baker] 0.001803 6.143 1.968 C10orf90 rs139123090 10:126459169:G:A 10 126459169 G A 10:128147738 0.962755 0.00847333 26 3087 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of ear 5.87e-05 0.2601 0.0647 Conductive and sensorineural hearing loss 2.251e-12 5.958 0.849 C10orf90 rs145052480 10:126504556:C:T 10 126504556 C T 10:128193125 0.975648 442 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperkinetic disorders (more controls excluded) 0.000281 4.8058 1.3232 MKI67 rs75701205 10:128103498:G:A 10 128103498 G A 10:129901762 0.990073 2942 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on examination of blood, without diagnosis 0.000601 0.4084 0.119 Other and unspecified degenerative diseases of nervous system 5.897e-05 38.304 9.536 MKI67 rs147473159 10:128103589:C:T 10 128103589 C T 10:129901853 0.992115 1870 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of adrenal gland 0.0011 1.9081 0.5848 Any death 0.001292 1.763 0.548 MKI67 rs141904662 10:128105242:G:A 10 128105242 G A 10:129903506 0.972685 100 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory diseases of prostate (prostatitis) 0.000149 5.1596 1.3606 MKI67 rs146273614 10:128106022:G:A 10 128106022 G A 10:129904286 0.946673 558 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Syncope and collapse 0.000714 0.8496 0.251 Papulosquamous disorders 0 17.392 0 MKI67 rs45438392 10:128106390:C:G 10 128106390 C G 10:129904654 0.994719 0.00552822 20 2011 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Optic neuritis 3.92e-05 2.0832 0.5066 Intrahepatic Cholestasis of Pregnancy (ICP) 0.0006179 12.036 3.516 MKI67 rs138888836 10:128107642:C:A 10 128107642 C A 10:129905906 0.979662 665 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Antenatal screening 0.000327 0.5397 0.1502 Outcome of delivery 0.0005025 2.388 0.686 MKI67 rs145697891 10:128115935:T:C 10 128115935 T C 10:129914199 0.991523 1107 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperaldosteronism 0.000146 3.8566 1.0154 MKI67 rs41306644 10:128116523:C:T 10 128116523 C T 10:129914787 0.979935 2401 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.000269 0.5558 0.1525 Allergic urticaria 0.0002547 18.794 5.138 TCERG1L rs139123582 10:131093202:C:T 10 131093202 C T 10:132891465 0.958975 0.00506821 10 1852 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of head 8.34e-05 2.547 0.6473 Femoral hernia 0.002241 36.576 11.967 TCERG1L rs41282900 10:131308273:G:C 10 131308273 G C 10:133106536 0.990095 1671 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Duodenal ulcer 0.000435 1.1012 0.313 Small cell lung cancer (other cancers excluded from controls) 0.001335 66.322 20.671 ECHS1 rs1049951 10:133370622:G:A 10 133370622 G A 10:135184126 0.990218 0.970214 345862 10583 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on antenatal screening of mother 5.17e-05 -0.7123 0.176 Abnormal findings on antenatal screening of mother 2.44e-05 -0.381 0.09 SIRT3 rs143632880 11:236094:A:G 11 236094 A G 11:236094 0.902312 2085 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiovascular diseases 0.000274 -0.2125 0.0584 Dislocation, sprain and strain of joints and ligaments of thorax 0.001079 73.183 22.386 NLRP6 rs141755467 11:280403:G:C 11 280403 G C 11:280403 0.947964 143 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with peripheral circulatory complications 0.000287 7.5694 2.0869 NLRP6 rs148388963 11:281692:G:C 11 281692 G C 11:281692 0.899378 2732 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Childhood asthma (age<16) (more controls excluded) 0.000954 -0.6245 0.189 Hydatidiform mole 0.001497 76.305 24.032 IFITM5 rs57285449 11:299411:C:G 11 299411 C G 11:299411 0.896772 0.339706 42336 82468 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Personal history of malignant neoplasm 2.41e-05 0.4821 0.1142 Unspecified urinary incontinence 0.0001313 -0.209 0.055 RASSF7 rs34822421 11:563400:C:T 11 563400 C T 11:563400 0.97992 2708 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitiligo 0.000574 3.493 1.0144 Open wound of wrist and hand 0.001943 3.566 1.151 PHRF1 rs201244128 11:610300:A:G 11 610300 A G 11:610300 0.989538 978 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 0.000605 1.3664 0.3984 Other headache syndromes 9.627e-09 5.962 1.039 IRF7 rs200579991 11:613957:T:C 11 613957 T C 11:613957 0.969751 0.00352761 6 1290 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Suggestive for eosinophilic asthma 8.5e-06 2.0116 0.4518 Fracture of neck 0.001667 53.906 17.146 DRD4 rs146562378 11:637536:GCCGCCGACCTCCT:G 11 637536 GCCGCCGACCTCCT G 11:637536 0.978799 13315 pLoF dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Mixed conductive and sensorineural hearing loss 0.000983 0.3278 0.0995 Toxic effect of alcohol 0.0003186 4.3 1.194 DEAF1 rs34114147 11:644614:G:C 11 644614 G C 11:644614 0.990158 2543 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Chronic sinusitis 0.00145 0.3568 0.1121 Acidosis 0.001418 62.975 19.735 DEAF1 rs71469813 11:686935:T:C 11 686935 T C 11:686935 0.956482 0.000688645 2 251 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Certain infectious and parasitic diseases 9.03e-05 -0.5912 0.151 EPS8L2 rs12283031 11:709567:G:A 11 709567 G A 11:709567 0.998498 10425 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Agranulocytosis 0.000556 0.4594 0.1331 Erythema intertrigo 0.0001547 9.288 2.455 EPS8L2 rs60889456 11:723311:C:T 11 723311 C T 11:723311 0.989638 7805 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic iridocyclitis 0.000217 0.8375 0.2264 Cellulitis 3.745e-05 2.937 0.712 TALDO1 rs11302 11:764414:A:G 11 764414 A G 11:764414 0.966681 288 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of orbit 0.000289 6.2413 1.7219 SLC25A22 rs201089795 11:792640:C:T 11 792640 C T 11:792640 0.943683 1149 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Early Infantile Epileptic Encephalopathy, Autosomal Recessive;Early infantile epileptic encephalopathy;Seizures;not specified Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.000335 -0.4255 0.1186 Other complications of labour and delivery, not elsewhere classified 0.0003589 199.672 55.952 SLC25A22 rs111277421 11:792692:G:C 11 792692 G C 11:792692 0.992609 20863 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Early Infantile Epileptic Encephalopathy, Autosomal Recessive;Seizures;not provided;not specified Causalgia 0.000781 0.8447 0.2514 Congenital malformations of aortic and mitral valves 0.0004285 2.226 0.632 PNPLA2 rs139576982 11:821676:G:A 11 821676 G A 11:821676 0.977293 998 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Neutral lipid storage disease with myopathy Other extrapyramidal and movement disorders+ in other diseases 0.000878 1.2587 0.3783 Malignant neoplasm of eye and adnexa 0.0001837 332.64 88.929 PNPLA2 rs145999340 11:821778:G:A 11 821778 G A 11:821778 0.986407 0.000620597 0 228 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Emotionally unstable personality disorder 4.26e-05 3.3598 0.8209 PNPLA2 rs140201358 11:823586:C:G 11 823586 C G 11:823586 0.964284 0.0139498 62 5063 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neutral lipid storage disease with myopathy;not specified Unstable angina pectoris 1.35e-06 0.4745 0.0982 Kela-cod for severe mental illness 0.0003295 3.543 0.987 PNPLA2 rs56152088 11:823729:C:T 11 823729 C T 11:823729 0.975513 0.0267619 308 9524 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neutral lipid storage disease with myopathy;not specified Diabetes, varying definitions 6.14e-05 -0.1314 0.0328 Other and/or unspecified nontoxic goitre 0.0009138 2.317 0.699 PNPLA2 rs137866968 11:824042:C:T 11 824042 C T 11:824042 0.97326 337 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspecified/other endometriosis 0.000675 3.0407 0.8944 PNPLA2 rs1138693 11:824789:T:C 11 824789 T C 11:824789 0.978811 70421 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bronchiectasis 0.00133 -0.185 0.0576 Benign neoplasm: Other/unspecified site 0.0009776 -0.259 0.078 MUC5B rs2672785 11:1225711:A:G 11 1225711 A G 11:1246941 0.992321 0.347739 44340 83415 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic pulmonary fibrosis (attempt to specificity) 2.97e-09 -0.3295 0.0555 Idiopathic pulmonary fibrosis (attempt to specificity) 8.291e-07 -0.29 0.059 MUC5B rs2075853 11:1226228:C:T 11 1226228 C T 11:1247458 0.9935 44206 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Oesophagus 0.000404 0.7008 0.1981 Optic neuritis 0.001867 0.564 0.181 MUC5B rs56293203 11:1226857:G:A 11 1226857 G A 11:1248087 0.986632 0.0171045 136 6148 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified ILD, hospital admissions 1, main diag only 7.23e-07 0.7873 0.1589 Polyarthritis, unspecified 0.0001109 10.267 2.656 MUC5B rs78692183 11:1242527:A:G 11 1242527 A G 11:1263757 0.998169 0.0727596 2008 24723 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Statin medication 3.5e-05 -0.0772 0.0187 Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.000418 0.678 0.192 MUC5B rs2943510 11:1242546:C:T 11 1242546 C T 11:1263776 0.99778 0.201479 14858 59163 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD, hospital admissions 4.48e-06 -0.2213 0.0482 3.714e-05 0.586 0.142 MUC5B rs61997210 11:1243062:C:T 11 1243062 C T 11:1264292 0.981112 26832 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Type 1 diabetes with coma 0.000123 0.3344 0.0871 Dysplasia of cervi uteri 0.0002752 0.431 0.118 MUC5B rs4963031 11:1243593:T:C 11 1243593 T C 11:1264823 0.983288 67171 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Need for immunization against other single viral diseases 0.000478 0.3641 0.1043 Unspecified haematuria 0.0002095 -0.056 0.015 MUC5B rs60787297 11:1244556:C:T 11 1244556 C T 11:1265786 0.97166 0.490296 88638 91491 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Interstitial lung disease 1.75e-13 -0.2858 0.0388 Idiopathic pulmonary fibrosis (attempt to specificity) 8.778e-08 -0.238 0.044 MUC5B rs2943496 11:1244706:T:C 11 1244706 T C 11:1265936 0.980835 0.0299112 310 10679 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Idiopathic pulmonary fibrosis (attempt to specificity) 2.78e-08 0.8838 0.1591 Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.0005882 0.823 0.239 MUC5B rs184565965 11:1246059:A:C 11 1246059 A C 11:1267289 0.998158 0.0729991 2038 24781 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Statin medication 3.72e-05 -0.0768 0.0186 Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.0001922 0.722 0.194 MUC5B rs189329205 11:1246061:T:C 11 1246061 T C 11:1267291 0.998158 0.0729991 2038 24781 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Statin medication 3.72e-05 -0.0768 0.0186 Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.0001922 0.722 0.194 MUC5B rs55813014 11:1246095:T:C 11 1246095 T C 11:1267325 0.994481 0.556374 113730 90675 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other insterstitial pulmonary diseases 5.21e-18 -0.3349 0.0387 Idiopathic pulmonary fibrosis (attempt to specificity) 3.656e-12 -0.286 0.041 MUC5B rs60268710 11:1246332:C:T 11 1246332 C T 11:1267562 0.991064 0.285464 30186 74690 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other respiratory diseases principally affecting the interstitium 5.52e-06 -0.173 0.0381 Hyperplasia of prostate 2.979e-05 -0.1 0.024 MUC5B rs2943531 11:1246730:A:G 11 1246730 A G 11:1267960 0.963905 65384 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Need for immunization against other single viral diseases 0.000436 0.3742 0.1064 Neuromuscular dysfuntion of bladder 0.0001172 -0.132 0.034 MUC5B rs2943529 11:1247283:G:C 11 1247283 G C 11:1268513 0.989454 0.55458 113014 90732 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other insterstitial pulmonary diseases 8.72e-18 -0.3332 0.0388 Idiopathic pulmonary fibrosis (attempt to specificity) 6.692e-12 -0.284 0.041 MUC5B rs2943527 11:1247378:A:G 11 1247378 A G 11:1268608 0.982853 67535 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Need for immunization against other single viral diseases 0.000529 0.36 0.1039 Unspecified haematuria 0.0001747 -0.057 0.015 MUC5B rs2943521 11:1248605:G:A 11 1248605 G A 11:1269835 0.994036 0.482027 85684 91407 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other insterstitial pulmonary diseases 1.27e-12 -0.272 0.0383 Idiopathic pulmonary fibrosis (attempt to specificity) 4.983e-07 -0.224 0.044 MUC5B rs185838223 11:1249417:G:C 11 1249417 G C 11:1270647 0.994826 26949 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Type 1 diabetes with coma 0.000202 0.319 0.0858 Dysplasia of cervi uteri 0.0002495 0.422 0.115 MUC5B rs201822010 11:1249461:G:C 11 1249461 G C 11:1270691 0.923328 277 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other hearing loss 0.000253 2.0515 0.5606 MUC5B rs2943517 11:1250091:C:G 11 1250091 C G 11:1271321 0.987023 0.485051 86748 91454 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other insterstitial pulmonary diseases 7.54e-13 -0.2756 0.0384 Idiopathic pulmonary fibrosis (attempt to specificity) 8.586e-07 -0.218 0.044 MUC5B rs4963058 11:1250937:C:T 11 1250937 C T 11:1272167 0.979918 0.0606117 1278 20990 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Idiopathic pulmonary fibrosis (attempt to specificity) 4.82e-05 0.4458 0.1097 Atypical facial pain 0.0006077 1.518 0.443 MUC5B rs56232219 11:1254758:T:C 11 1254758 T C 11:1275988 0.998935 0.0727569 2010 24720 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Statin medication 3.26e-05 -0.0775 0.0187 Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.0001596 0.738 0.195 MUC5B rs3829224 11:1255097:G:A 11 1255097 G A 11:1276327 0.990213 1382 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Depression medications 0.000107 -0.3488 0.09 Chronic laryngitis and laryngotracheitis 0.000131 20.449 5.347 MUC5B rs55893724 11:1255202:G:T 11 1255202 G T 11:1276432 0.951325 1363 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal scars and opacities 0.00178 3.1483 1.0073 Cerebrovascular diseases 0.0002923 2.389 0.66 MUC5B rs55741856 11:1256723:G:A 11 1256723 G A 11:1277953 0.992669 19155 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD differential diagnosis 0.000647 -0.0526 0.0154 Other hearing loss 0.0007535 0.566 0.168 MUC5B rs55657020 11:1257566:G:A 11 1257566 G A 11:1278796 0.998943 0.0727433 2010 24715 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Statin medication 3.38e-05 -0.0773 0.0187 Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.0001596 0.738 0.195 MUC5B rs56220864 11:1257682:G:C 11 1257682 G C 11:1278912 0.998781 0.0727814 2014 24725 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Statin medication 3.42e-05 -0.0773 0.0186 Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.0001664 0.734 0.195 MUC5B rs55856616 11:1259008:G:A 11 1259008 G A 11:1280238 0.989094 0.0112415 68 4062 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Protozoal diseases 4.28e-05 2.1826 0.5334 Sacroiliitis, not elsewhere classified 5.448e-06 25.753 5.664 MUC5B rs200719329 11:1260703:G:A 11 1260703 G A 11:1281933 0.992254 0.00227008 2 832 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension 3.62e-05 0.4258 0.1031 CTSD rs147278302 11:1754122:C:T 11 1754122 C T 11:1775352 0.991637 10773 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ceroid lipofuscinosis neuronal 10;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;Neuronal ceroid lipofuscinosis;Seizures;not provided;not specified Persons encountering health services for specific procedures, not carried out 0.000688 0.6762 0.1992 Unspecified jaundice 0.0005418 3.697 1.069 CTSD rs78735768 11:1754155:C:T 11 1754155 C T 11:1775385 0.988195 17320 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ceroid lipofuscinosis neuronal 10;not provided;not specified Hyperprolactinaemia 0.000116 0.6065 0.1574 Sequelae of injuries of neck and trunk 0.0007531 3.014 0.894 CTSD rs17571 11:1761364:G:A 11 1761364 G A 11:1782594 0.996743 18261 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ceroid lipofuscinosis neuronal 10;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;Seizures;not provided;not specified Acute bronchitis 0.000793 0.1475 0.044 Tibial collateral bursitis [Pellegrini-Stieda] 0.0007414 5.452 1.616 CTSD rs757712173 11:1763852:G:A 11 1763852 G A 11:1785082 0.862483 0.000636929 2 232 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bell's palsy 9.98e-05 4.0475 1.0402 INS rs3842753 11:2159830:T:G 11 2159830 T G 11:2181060 0.985937 0.791738 230246 60629 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 2.08e-44 0.4652 0.0333 Type 1 diabetes, wide definition, subgroup 1 5.706e-46 0.277 0.019 INS rs3842752 11:2159843:G:A 11 2159843 G A 11:2181073 0.989477 0.155903 8944 48333 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes without complications 1.63e-31 -0.4337 0.0371 Alzheimer's disease (Late onset) 8.775e-06 0.34 0.076 TH rs184106392 11:2165311:C:T 11 2165311 C T 11:2186541 0.941146 203 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Symptoms and signs involving emotional state 0.000327 8.8108 2.4522 TH rs202149985 11:2167883:G:C 11 2167883 G C 11:2189113 0.991554 576 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Segawa syndrome, autosomal recessive Non-rheumatic valve diseases 0.00151 0.6991 0.2203 Benign neoplasm: Pancreas 0.0006146 126.859 37.038 TH rs6356 11:2169721:C:T 11 2169721 C T 11:2190951 0.979479 0.439726 71322 90228 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes without complications 2.13e-16 0.2096 0.0255 Type 1 diabetes without complications 9.881e-10 0.137 0.022 TH rs74555599 11:2171771:C:T 11 2171771 C T 11:2193001 0.981439 0.0151665 90 5482 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dystonia;Segawa syndrome, autosomal recessive;not provided Medial epicondylitis 3.17e-05 1.3223 0.3178 Medial epicondylitis 0.001686 8.312 2.647 KCNQ1 rs12720457 11:2587620:G:T 11 2587620 G T 11:2608850 0.978026 215 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter IBD patients in KELA-register 0.000134 2.481 0.6498 SLC22A18 rs146413382 11:2903410:G:A 11 2903410 G A 11:2924640 0.973328 0.00308121 4 1128 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maltreatment syndromes 8.62e-05 2.9166 0.7428 CARS rs117234242 11:3029003:C:T 11 3029003 C T 11:3050233 0.985312 3843 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinal vascular occlusion 0.000638 0.7068 0.207 Other retinal artery occlusion 7.45e-05 36.627 9.246 CARS rs148335154 11:3029392:G:A 11 3029392 G A 11:3050622 0.978443 5898 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of eyelid 0.000142 0.3167 0.0832 Ulcer of lower limb, not elsewhere classified 0.0001369 5.233 1.372 CARS rs12796489 11:3038130:C:A 11 3038130 C A 11:3059360 0.977517 1588 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abdominal and pelvic pain 0.00167 0.199 0.0633 Benign neoplasm: Skin of upper limb, including shoulder 0.0006446 117.886 34.549 OSBPL5 rs141858255 11:3092466:G:A 11 3092466 G A 11:3113696 0.966053 1798 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol dependence 0.00015 -0.6413 0.1692 Trigeminal neuralgia 0.0006751 119.032 35.015 STIM1 rs747547917 11:4091412:C:T 11 4091412 C T 11:4112642 0.915106 122 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autoimmune diseases related-to ILD 0.000522 1.2726 0.3668 OR52B4 rs11310407 11:4368174:AG:A 11 4368174 AG A 11:4389404 0.995722 0.37195 51266 85384 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tuberculosis 4.04e-05 0.2137 0.052 Paranoid personality disorder 0.0002908 -0.313 0.086 OR51F1 rs542209937 11:4769643:CG:C 11 4769643 CG C 11:4790873 0.99216 53695 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effects of substances chiefly nonmedicinal as to source 0.000345 0.1811 0.0506 Other or unspecified ileus, impaction or obstruction 6.464e-06 0.295 0.065 MMP26 rs35365239 11:4989685:C:T 11 4989685 C T 11:5010915 0.953398 0.0078854 34 2863 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Soft tissue disorders 7.91e-05 -0.1993 0.0505 Acute posthaemorrhagic anaemia 0.0005373 13.245 3.826 HBB rs1135071 11:5226799:C:A 11 5226799 C A 11:5248029 0.996751 1116 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Heinz body anemia;not specified Aplastic and other anaemias 0.000203 0.7284 0.1961 Carcinoma in situ of skin of upper limb, including shoulder 0.0002116 282.836 76.344 HBD rs35152987 11:5234352:C:A 11 5234352 C A 11:5255582 0.989151 364 missense_variant unknown Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Acute posthaemorrhagic anaemia 0.00083 4.8404 1.4481 HBD rs35406175 11:5234420:G:A 11 5234420 G A 11:5255650 0.994956 789 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Macular pucker 0.000538 1.9939 0.5761 OR52N4 rs142159415 11:5755396:C:T 11 5755396 C T 11:5776626 0.939664 3324 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coronary angiopasty 0.000402 0.3851 0.1088 Chondrocostal junction syndrome [Tietze] 0.0001641 37.793 10.028 OR52N4 rs190757899 11:5755696:A:G 11 5755696 A G 11:5776926 0.980768 6037 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified fall 0.000547 1.9943 0.577 Congenital obstructive defects of renal pelvis and congenital malformations of ureter 0.0002314 21.009 5.706 OR52E6 rs10838719 11:5841501:A:G 11 5841501 A G 11:5862731 0.986577 91826 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary heart disease 0.000973 -0.0884 0.0268 Dystonia 0.0008886 0.157 0.047 FAM160A2 rs117940741 11:6214426:G:A 11 6214426 G A 11:6235656 0.982221 0.00501922 8 1836 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Malignant tumor of prostate Chronic sinusitis 1e-04 0.5213 0.134 Drug-induced osteoporosis with pathological fracture 0.0005897 124.901 36.347 CNGA4 rs60883768 11:6240263:A:G 11 6240263 A G 11:6261493 0.996034 991 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Descending colon 0.00021 2.8189 0.7604 Immune disease comorbidities 6.359e-05 2.006 0.502 SMPD1 rs141641266 11:6394015:C:T 11 6394015 C T 11:6415245 0.988408 1356 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Niemann-Pick disease, type A;Niemann-Pick disease, type A;Niemann-Pick disease, type B;not provided;not specified Conductive hearing loss, unspecified 0.000496 1.4106 0.405 Vitamin D deficiency 0.0005694 139.689 40.539 SMPD1 rs1050239 11:6394233:G:A 11 6394233 G A 11:6415463 0.984709 62095 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Early onset COPD 0.000576 -0.1189 0.0345 Diffuse brain injury 4.963e-05 0.469 0.116 SMPD1 rs142787001 11:6394261:A:T 11 6394261 A T 11:6415491 0.936457 453 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Impotence 0.000284 4.8498 1.3364 APBB1 rs1800423 11:6403380:T:C 11 6403380 T C 11:6424610 0.944536 438 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the skin and subcutaneous tissue 0.000468 -0.4211 0.1204 DNHD1 rs150283566 11:6502904:G:A 11 6502904 G A 11:6524134 0.936387 600 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bell's palsy 0.000612 1.9868 0.5799 DNHD1 rs2344829 11:6529079:G:A 11 6529079 G A 11:6550309 0.997339 81073 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperosmolality and hypernatraemia 0.000102 0.5797 0.1491 Hyperosmolality and hypernatraemia 5.892e-05 0.396 0.099 DNHD1 rs180918289 11:6534014:G:T 11 6534014 G T 11:6555244 0.948112 532 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.000367 2.0632 0.5792 Benign neoplasm: other/unspecified salivary gland 0.001521 159.401 50.274 DNHD1 rs186978440 11:6544228:G:A 11 6544228 G A 11:6565458 0.949319 295 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Entropion and trichiasis of eyelid 0.000806 4.0834 1.2187 DNHD1 rs189772244 11:6544980:C:A 11 6544980 C A 11:6566210 0.995342 1715 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Other and unspecified polyneuropathies, also in other diseases 0.000494 0.8776 0.2519 Otalgia 0.003561 28.442 9.758 DNHD1 rs200542540 11:6544999:G:A 11 6544999 G A 11:6566229 0.996535 6817 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Undescended testicle 0.000487 2.207 0.6328 Disorder of lipoprotein metabolism, unspecified 0.001516 2.627 0.828 DNHD1 rs199792237 11:6546203:G:A 11 6546203 G A 11:6567433 0.985175 973 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nail disorders 0.000567 1.8916 0.5488 Traumatic ischaemia of muscle 0.0006796 112.329 33.06 DNHD1 rs184654382 11:6547003:G:C 11 6547003 G C 11:6568233 0.995836 9088 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myocardial infarction 0.000531 0.1936 0.0559 Ulcerative ileocolitis 0.001148 4.626 1.423 DNHD1 rs146014217 11:6547048:A:G 11 6547048 A G 11:6568278 0.951329 835 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Radiation-related disorders of the skin and subcutaneous tissue 0.000195 0.9498 0.255 DNHD1 rs192678564 11:6557411:C:A 11 6557411 C A 11:6578641 0.970377 0.00251777 0 925 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otherand unspecified haemorrhagic conditions 4.49e-05 7.1447 1.7509 DNHD1 rs200088426 11:6570076:C:T 11 6570076 C T 11:6591306 0.988979 317 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinal detachments and breaks 0.000509 1.46 0.4201 DNHD1 rs139951286 11:6571241:C:T 11 6571241 C T 11:6592471 0.937514 91 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medial epicondylitis 0.000322 15.6678 4.3558 DNHD1 rs11604362 11:6571721:T:C 11 6571721 T C 11:6592951 0.957045 625 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter ILD Co-morbidites, CVD and metabolic diseases 0.000907 -0.3735 0.1126 Rheumatoid arthritis 0.001069 6.643 2.03 ILK rs114115159 11:6604336:A:G 11 6604336 A G 11:6625566 0.963161 473 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary familial hypertrophic cardiomyopathy;not specified Problems related to employment and unemployment 0.000639 7.2097 2.1116 Benign neoplasm: Oesophagus 0.0001336 498.2 130.427 ILK rs200336608 11:6608113:T:A 11 6608113 T A 11:6629343 0.915101 915 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary familial hypertrophic cardiomyopathy;not provided DVT of lower extremities 0.000709 0.8687 0.2566 Degenerative macular diseases 0.003091 27.359 9.247 TPP1 rs751645191 11:6614951:T:C 11 6614951 T C 11:6636182 0.888848 159 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other shoulder lesions 0.000213 5.9877 1.6172 TPP1 rs121908197 11:6616363:C:T 11 6616363 C T 11:6637594 0.911384 256 missense_variant recessive not provided not_provided no assertion provided none Other contact dermatitis 0.000395 3.8347 1.0821 TPP1 rs200138397 11:6616751:G:A 11 6616751 G A 11:6637982 0.915858 0.000446395 4 160 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Alzheimer's disease (undefined) (more controls excluded) 5.69e-05 18.4474 4.5828 TPP1 rs138976576 11:6619387:G:T 11 6619387 G T 11:6640618 0.986965 0.00345411 6 1263 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ceroid lipofuscinosis neuronal 2;Neuronal ceroid lipofuscinosis;Seizures;not provided;not specified Melanocytic naevi of scalp and neck 5.72e-05 3.9338 0.9776 Melanocytic naevi of scalp and neck 0.000619 128.665 37.587 DCHS1 rs201094018 11:6622407:T:A 11 6622407 T A 11:6643638 0.867394 154 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Urethral stricture 0.00157 5.9601 1.8856 DCHS1 rs113091644 11:6626266:G:A 11 6626266 G A 11:6647497 0.969182 10416 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Major coronary heart disease event 0.000471 0.151 0.0432 Benign neoplasm: Duodenum 0.0004149 6.529 1.849 DCHS1 rs4758443 11:6627193:G:A 11 6627193 G A 11:6648424 0.998812 87604 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility 0.000882 0.0719 0.0216 Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.000254 -0.213 0.058 DCHS1 rs148791938 11:6627536:G:A 11 6627536 G A 11:6648767 0.980938 958 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic ischaemia of muscle 0.00311 4.4201 1.4951 Atypical mycobacterium lung infection 0.0001971 322.11 86.525 DCHS1 rs140469023 11:6628664:A:T 11 6628664 A T 11:6649895 0.989474 2579 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arthritis (FG) 0.00028 -0.511 0.1407 Malignant neoplasm of breast (other cancers excluded from controls) 0.0001714 5.239 1.394 DCHS1 rs199544459 11:6630239:G:A 11 6630239 G A 11:6651470 0.919326 238 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic hepatitis NAS 0.000429 13.3727 3.7971 DCHS1 rs184586428 11:6630722:C:T 11 6630722 C T 11:6651953 0.960926 2377 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Benign neoplasm: Vulva 0.000793 2.2275 0.6639 Spinal instabilities 0.001916 47.152 15.196 DCHS1 rs138340204 11:6632354:C:G 11 6632354 C G 11:6653585 0.980828 924 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Van Maldergem syndrome 1 Radiation-related disorders of the skin and subcutaneous tissue 0.00013 0.9449 0.247 Polyarthropathies 0.0003278 3.772 1.05 DCHS1 rs111781030 11:6632516:C:T 11 6632516 C T 11:6653747 0.993919 708 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Central retinal artery occlusion 0.00186 5.1901 1.6679 Chronic lower respiratory diseases 0 3.58 0 DCHS1 rs145749053 11:6632537:C:T 11 6632537 C T 11:6653768 0.851529 491 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vulvovaginal ulceration/inflammation in other diseases 0.000354 4.6871 1.3122 DCHS1 rs142972252 11:6640068:C:T 11 6640068 C T 11:6661299 0.997342 486 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cutaneous abscess, furuncle and carbuncle 0.00141 1.3834 0.4333 DCHS1 rs150834672 11:6640121:C:T 11 6640121 C T 11:6661352 0.989905 0.00366915 6 1342 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Melanocytic naevi of scalp and neck 9.13e-05 3.6419 0.9308 Melanocytic naevi of scalp and neck 0.0006189 128.677 37.59 DCHS1 rs117368891 11:6640369:G:T 11 6640369 G T 11:6661600 0.97581 2876 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Atrial fibrillation and flutter with reimbursement 0.000144 0.4283 0.1127 Oesophagitis 0.0002886 17.97 4.957 DCHS1 rs143767864 11:6640910:C:T 11 6640910 C T 11:6662141 0.830715 93 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypersensitivity pneumonitis due to organic dust 0.00082 22.9097 6.847 DCHS1 rs112402535 11:6641235:C:T 11 6641235 C T 11:6662466 0.891574 693 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormality of the corpus callosum;Abnormality of the renal pelvis;Delayed speech and language development;Generalized hypotonia;Global developmental delay;Hypopigmented skin patches;Hypoplasia of the corpus callosum;Joint hypermobility;Neonatal hypotonia;Periventricular gray matter heterotopia;Relative macrocephaly;not provided Disorders of mineral metabolism 0.00268 2.0709 0.6898 Artificial opening status 0.0006219 134.829 39.402 OR2AG1 rs151120105 11:6785872:A:G 11 6785872 A G 11:6807103 0.934212 351 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Campylobacter enteritis 0.000167 7.9102 2.1011 ZNF215 rs138660620 11:6943642:G:A 11 6943642 G A 11:6964873 0.93124 753 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic subdural haemorrhage 0.000329 1.9491 0.5427 0.001118 70.632 21.673 ZNF215 rs117380100 11:6955753:G:A 11 6955753 G A 11:6976984 0.959041 736 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory disorders of breast 0.000738 2.8427 0.8423 ZNF215 rs149189074 11:6955878:T:C 11 6955878 T C 11:6977109 0.966591 1568 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other follicular disorders 0.00267 1.4701 0.4895 Cerebral palsy 0.001021 76.676 23.343 ZNF215 rs34145818 11:6956094:C:A 11 6956094 C A 11:6977325 0.995664 982 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Astigmatism 0.000299 2.6691 0.7381 Diseases of the musculoskeletal system and connective tissue 0.0005925 -1.386 0.404 TUB rs55648406 11:8039019:G:A 11 8039019 G A 11:8060566 0.824153 183 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.00216 3.0105 0.9815 Endometriosis of ovary 1.545e-07 6.314 1.203 TUB rs75594955 11:8100512:G:A 11 8100512 G A 11:8122059 0.964477 4633 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications associated with artificial fertilization 0.00129 1.7215 0.535 Pericarditis 0.0002827 17.923 4.937 RIC3 rs139685245 11:8126740:C:A 11 8126740 C A 11:8148287 0.993142 6601 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sixth [abducent] nerve palsy 0.0011 1.0657 0.3266 Nonspesific lymphadenitis 0.0001357 5.382 1.41 TRIM66 rs150122555 11:8620456:T:C 11 8620456 T C 11:8642003 0.980102 788 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypermetropia 0.00175 2.1159 0.6763 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0 4.463 0 DENND5A rs202226768 11:9264989:C:A 11 9264989 C A 11:9286536 0.882928 223 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormal immunological findings in serum 0.000682 12.1219 3.5687 WEE1 rs34412975 11:9575939:G:T 11 9575939 G T 11:9597486 0.992733 2019 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain (limb, back, neck, head abdominally) 0.00033 0.1699 0.0473 Pregnancy examination and test 0.0002524 4.448 1.215 SBF2 rs776494289 11:9787648:GTTC:G 11 9787648 GTTC G 11:9809195 0.936669 620 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Perioral dermatitis 0.000725 6.8787 2.0352 SBF2 rs141108330 11:9795879:G:A 11 9795879 G A 11:9817426 0.998219 350 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coronary revascularization (ANGIO or CABG) 0.000773 0.9757 0.2902 SBF2 rs150028248 11:9816994:C:T 11 9816994 C T 11:9838541 0.954859 185 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of the eye and adnexa 0.0024 -0.513 0.169 SBF2 rs12574508 11:9832230:G:C 11 9832230 G C 11:9853777 0.985702 36899 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Viral hepatitis 0.0017 0.243 0.0774 0.0006348 -0.131 0.038 SBF2 rs117957652 11:9839661:G:C 11 9839661 G C 11:9861208 0.995911 7808 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;Charcot-Marie-Tooth disease, type 4B2;not provided;not specified Migraine without aura 0.000628 0.3476 0.1017 Degeneration of macula and posterior pole 0.0003041 1.407 0.39 SBF2 rs141894081 11:9839663:G:T 11 9839663 G T 11:9861210 0.98428 94 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Problems related to life-management difficulty 0.00106 6.3433 1.9376 SBF2 rs141330687 11:9856498:C:T 11 9856498 C T 11:9878045 0.998171 823 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other melanin hyperpigmentation 0.000111 5.9445 1.5384 SBF2 rs7102464 11:9858291:C:T 11 9858291 C T 11:9879838 0.985889 0.192018 13660 56885 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertension 8.51e-06 0.0563 0.0127 Palmar fascial fibromatosis [Dupuytren] 0.0004317 0.22 0.062 AMPD3 rs11042836 11:10482189:C:T 11 10482189 C T 11:10503736 0.995418 0.0944424 3254 31443 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chron's disease NAS 9.1e-06 0.4067 0.0917 Other extrapyramidal and movement disorders+ in other diseases 5.322e-05 0.579 0.143 AMPD3 rs117706710 11:10487356:G:T 11 10487356 G T 11:10508903 0.981832 3697 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Plantar fascial fibromatosis 0.00159 0.6833 0.2164 Schizophrenia or delusion 0.001177 3.191 0.983 DKK3 rs114873269 11:11964597:T:C 11 11964597 T C 11:11986144 0.981872 518 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Colorectal cancer 0.000114 1.7491 0.4533 Malignant neoplasm of stomach 0.0006252 112.499 32.89 MICAL2 rs35387130 11:12224808:G:A 11 12224808 G A 11:12246355 0.936959 510 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 0.000192 2.2645 0.6072 0.0001138 -1.479 0.383 MICAL2 rs35228638 11:12227043:A:G 11 12227043 A G 11:12248590 0.994512 7040 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine 0.000229 -0.2532 0.0687 Third [oculomotor] nerve palsy 0.0004902 15.116 4.336 FAR1 rs12793516 11:13700413:G:A 11 13700413 G A 11:13721960 0.960711 359 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.000438 12.8314 3.6492 PDE3B rs143026894 11:14867662:G:A 11 14867662 G A 11:14889208 0.994715 2363 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute bronchiolitis 0.000536 1.2099 0.3495 Hyperplasia of prostate 2.023e-05 1.791 0.42 PDE3B rs61736639 11:14869595:G:C 11 14869595 G C 11:14891141 0.981631 2260 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes, varying definitions 0.000131 -0.2604 0.0681 Malignant neoplasm of respiratory system and intrathoracic organs 0.0002167 18.637 5.039 PLEKHA7 rs34556458 11:16803052:C:T 11 16803052 C T 11:16824599 0.920385 0.000963559 0 354 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of gallbladder, biliary tract and pancreas 8.1e-05 0.7924 0.201 PIK3C2A rs61733866 11:17136573:C:T 11 17136573 C T 11:17158120 0.995949 0.00492667 8 1802 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyhydramnios 9.97e-05 2.3903 0.6143 Inflammation of lacrimal passages (acute and unspecified) 0.001563 56.436 17.844 KCNJ11 rs5215 11:17387083:C:T 11 17387083 C T 11:17408630 0.999912 0.528602 102804 91398 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes, definitions combined 1.29e-07 -0.0623 0.0118 1.312e-05 -0.043 0.01 KCNJ11 rs1800467 11:17387284:G:C 11 17387284 G C 11:17408831 0.98617 33591 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease, wide definition (more controls excluded) 0.00048 -0.1495 0.0428 Other juvenile arthritis 0.001022 0.815 0.248 KCNJ11 rs5219 11:17388025:T:C 11 17388025 T C 11:17409572 0.999874 0.529424 103158 91346 missense_variant both drug response drug response reviewed by expert panel Criteria_multSubmitter Type 2 diabetes, definitions combined 2.14e-07 -0.0612 0.0118 1.709e-05 -0.042 0.01 ABCC8 rs8192690 11:17393023:C:T 11 17393023 C T 11:17414570 0.999291 14435 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperinsulinism, Dominant/Recessive;Maturity onset diabetes mellitus in young;Permanent neonatal diabetes mellitus;Transient Neonatal Diabetes, Dominant;not specified Fall on same level 0.000193 0.6962 0.1868 Other congenital malformations of the digestive system 0.0002955 3.079 0.851 ABCC8 rs757110 11:17396930:C:A 11 17396930 C A 11:17418477 0.998742 0.528501 102814 91351 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes, definitions combined 2.89e-06 -0.0553 0.0118 2.369e-05 -0.042 0.01 ABCC8 rs67254669 11:17448596:A:G 11 17448596 A G 11:17470143 0.996253 0.00145895 2 534 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes with other specified/multiple/unspecified complications 1.37e-06 0.8164 0.1691 ABCC8 rs137852672 11:17463457:A:T 11 17463457 A T 11:17485004 0.825564 509 missense_variant both Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persistent hyperinsulinemic hypoglycemia of infancy;not provided Other dorsopathies, not elsewhere classified 0.000327 -0.4698 0.1308 Disorders of iron metabolism 6.842e-05 1431.373 359.486 USH1C rs56165709 11:17495613:C:T 11 17495613 C T 11:17517160 0.936903 551 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Low back pain 0.000929 0.6703 0.2024 USH1C rs1064074 11:17498195:C:G 11 17498195 C G 11:17519742 0.988376 91060 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peripheral artery operations in Hilmo 0.00148 0.1313 0.0413 0.0007571 0.286 0.085 USH1C rs116996553 11:17517442:C:T 11 17517442 C T 11:17538989 0.968431 2549 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not specified Chronic hepatitis NAS 0.000572 2.7927 0.8108 4.515e-05 42.389 10.391 USH1C rs145013633 11:17527316:C:T 11 17527316 C T 11:17548863 0.995005 858 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of digestive organs 0.000347 0.8141 0.2275 OTOG rs534942001 11:17553137:A:G 11 17553137 A G 11:17574684 0.948869 1714 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sacrococcygeal disorders, not elsewhere classified 0.000669 2.0336 0.5978 Crushing injury of wrist and hand 0.0003997 179.27 50.637 OTOG rs61978648 11:17557227:G:A 11 17557227 G A 11:17578774 0.876647 0.00124936 0 459 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperkinetic disorders 9.03e-05 3.9692 1.0138 OTOG rs61611064 11:17558236:C:A 11 17558236 C A 11:17579783 0.948727 39849 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Use of disulfiram, acamprosate or naltrexone 0.000458 -0.2236 0.0638 0.000246 0.101 0.028 OTOG rs7130190 11:17558628:A:T 11 17558628 A T 11:17580175 0.96562 0.13569 6836 43015 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of stomach and duodenum 6.43e-06 0.3729 0.0826 Single delivery by caesarean section 0.0006581 -0.224 0.066 OTOG rs528799547 11:17559606:G:A 11 17559606 G A 11:17581153 0.928945 0.00273825 4 1002 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other and unspecified diseases of blood and blood-forming organs 5.28e-05 5.6716 1.4028 Arthropathies 0 2.802 0 OTOG rs7112749 11:17570375:C:T 11 17570375 C T 11:17591922 0.979033 11977 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other and unspecified mental retardation 0.00057 1.1425 0.3316 Abnormal findings on diagnostic imaging of breast 0.002217 7.342 2.4 OTOG rs7106548 11:17572162:T:C 11 17572162 T C 11:17593709 0.998462 88869 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal results of function studies 0.00187 0.168 0.054 Viral pneumonia (known virus, not influenza) 0.0006551 0.215 0.063 OTOG rs554847663 11:17574890:C:T 11 17574890 C T 11:17596437 0.852296 88 pLoF recessive Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease (Early onset) 0.00204 9.0099 2.9212 OTOG rs2355466 11:17578486:G:A 11 17578486 G A 11:17600033 0.992026 85764 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vestibular function (Vertigo) 0.00196 0.0617 0.0199 Anosmia 0.001679 0.269 0.086 OTOG rs144060182 11:17578490:G:T 11 17578490 G T 11:17600037 0.898359 620 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammation of lacrimal passages (chronic) 0.000234 6.5207 1.7724 OTOG rs11024333 11:17593656:G:A 11 17593656 G A 11:17615203 0.992844 42589 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries involving multiple body regions 0.000974 0.3911 0.1186 Otalgia 0.000228 0.617 0.167 OTOG rs116947228 11:17596999:G:A 11 17596999 G A 11:17618546 0.921693 3311 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Cholangitis (primary sclerosing, PSC), with reimbursement 202 0.000222 2.8462 0.7708 0.0006696 2.515 0.739 OTOG rs117005078 11:17599671:C:T 11 17599671 C T 11:17621218 0.895442 1010 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Secondary polycythaemia 0.000688 5.131 1.5116 Malignant neoplasm of brain 0.002319 38.92 12.777 OTOG rs145689709 11:17606001:G:A 11 17606001 G A 11:17627548 0.896347 133 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonalcoholic fatty liver disease 0.000393 7.9125 2.2322 OTOG rs7934079 11:17606066:G:C 11 17606066 G C 11:17627613 0.963565 78763 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary polycythaemia 0.000871 0.429 0.1289 Superficial injuries involving multiple body regions 0.0008204 0.24 0.072 OTOG rs778218478 11:17608401:G:A 11 17608401 G A 11:17629948 0.929858 2119 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other necrotizing vasculopathies (FG) 0.000565 1.5216 0.4413 6.378e-06 100.897 22.355 OTOG rs117380920 11:17609906:C:T 11 17609906 C T 11:17631453 0.933288 1108 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other and unspecified degenerative diseases of nervous system 0.00179 4.1319 1.3232 Thyrotoxicosis with toxic multinodular goitre 0.001005 65.943 20.049 OTOG rs2041028 11:17610204:C:T 11 17610204 C T 11:17631751 0.984222 81949 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pregnancy with abortive outcome 0.000225 -0.0492 0.0133 Diabetes, opthalmic co-morbidities 0.0003801 0.28 0.079 OTOG rs185432248 11:17610552:G:A 11 17610552 G A 11:17632099 0.872676 470 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic ileus 0.00152 4.2445 1.3382 OTOG rs779658224 11:17610732:C:T 11 17610732 C T 11:17632279 0.942403 389 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diverticular disease of intestine 0.000739 -0.8274 0.2452 Lupus erythematosus 0.0002165 312.493 84.483 OTOG rs1003490 11:17610759:C:T 11 17610759 C T 11:17632306 0.986848 46626 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contraceptive management 0.00125 -0.0684 0.0212 Other diabetic retinopathy 0.000301 0.47 0.13 OTOG rs7111528 11:17611104:C:T 11 17611104 C T 11:17632651 0.984054 81924 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pregnancy with abortive outcome 0.000224 -0.0492 0.0133 Diabetes, opthalmic co-morbidities 0.0003759 0.28 0.079 OTOG rs182000850 11:17612653:T:C 11 17612653 T C 11:17634200 0.927065 18891 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified disorders of white blood cells 0.00104 0.5625 0.1716 Crohn disease ( strict definition, require KELA, min 2 HDR) 0.001937 1.446 0.467 OTOG rs568549806 11:17631896:C:T 11 17631896 C T 11:17653443 0.930233 1014 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified diseases of blood and blood-forming organs 0.000278 4.8126 1.3238 Arthropathies 0 2.936 0 OTOG rs61743165 11:17634201:G:A 11 17634201 G A 11:17655748 0.968392 11964 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Hyperparathyroidism 0.000445 0.2924 0.0833 Abnormal findings on diagnostic imaging of breast 0.002247 7.058 2.31 OTOG rs563003848 11:17635152:G:C 11 17635152 G C 11:17656699 0.82453 76 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and unspecified female genital organs 0.000643 11.3058 3.3128 OTOG rs548496846 11:17635188:G:A 11 17635188 G A 11:17656735 0.864759 499 pLoF recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative rectosigmoiditis 0.000181 2.8806 0.7693 OTOG rs61995750 11:17638480:C:A 11 17638480 C A 11:17660027 0.964337 93 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hallux rigidus 0.00193 3.744 1.2075 OTOG rs567966154 11:17640936:C:T 11 17640936 C T 11:17662483 0.918446 95 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hallux rigidus 0.00194 3.7352 1.2051 OTOG rs12422210 11:17641869:G:A 11 17641869 G A 11:17663416 0.983625 46243 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute posthaemorrhagic anaemia 0.000731 0.3703 0.1096 Coronary artery bypass grafting 0.0005759 0.207 0.06 OTOG rs191662816 11:17645578:C:T 11 17645578 C T 11:17667125 0.881991 412 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Lupus erythematosus 0.000487 7.0513 2.0215 OTOG rs61997203 11:17645592:G:C 11 17645592 G C 11:17667139 0.967701 0.0288197 306 10282 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Calcific tendinitis of shoulder 2.85e-05 0.7505 0.1793 Complications following abortion and ectopic and molar pregnancy 0.001146 10.143 3.119 OTOG rs11024357 11:17645892:G:C 11 17645892 G C 11:17667439 0.995923 0.237545 20844 66427 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecidied mood [affective] disorders 2.56e-06 0.2635 0.056 Intrahepatic Cholestasis of Pregnancy (ICP) 0.0002139 0.306 0.083 MRGPRX4 rs146132319 11:18174062:C:T 11 18174062 C T 11:18195609 0.974956 2184 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain and other conditions associated with female genital organs and menstrual cycle 0.000263 0.7338 0.2011 Carcinoma in situ of skin of scalp and neck 0.000974 85.948 26.061 SAA1 rs79681911 11:18269755:G:A 11 18269755 G A 11:18291302 0.986833 248 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presbycusis 0.000277 4.0783 1.1217 HPS5 rs61884288 11:18281986:G:A 11 18281986 G A 11:18303533 0.994528 6572 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hermansky-Pudlak syndrome;Hermansky-Pudlak syndrome 5;not specified Other abnormal findings of blood chemistry 0.000489 1.3515 0.3876 Other disorders of conjunctiva 0.0003356 4.143 1.155 HPS5 rs17853184 11:18283807:C:T 11 18283807 C T 11:18305354 0.995166 0.00144262 0 530 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of calcium metabolism 1.95e-06 5.5189 1.1597 HPS5 rs61755718 11:18283808:C:T 11 18283808 C T 11:18305355 0.945588 1705 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hermansky-Pudlak syndrome;Hermansky-Pudlak syndrome 5;not specified Panic disorder 0.000655 0.9334 0.2739 Burns and corrosions of multiple and unspecified body regions 0.001407 62.68 19.629 HPS5 rs149677540 11:18296024:C:A 11 18296024 C A 11:18317571 0.989577 6946 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hermansky-Pudlak syndrome Burns and corrosions 0.000418 0.4668 0.1323 Ankylosing hyperostosis [Forestier] 0.0004511 15.486 4.414 HPS5 rs143784823 11:18296807:C:T 11 18296807 C T 11:18318354 0.997184 7528 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hermansky-Pudlak syndrome;not specified Hypothyroidism, levothyroxin purchases 0.00227 -0.1594 0.0522 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.0004966 14.893 4.276 HPS5 rs7128017 11:18297633:G:T 11 18297633 G T 11:18319180 0.998318 0.155081 8952 48023 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of breast 8.17e-05 0.1938 0.0492 Autoimmune thyroiditis 0.0003543 0.988 0.277 HPS5 rs149229493 11:18310873:C:T 11 18310873 C T 11:18332420 0.992555 0.0028063 2 1029 start_lost recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Certain zoonotic bacterial diseases 4.5e-05 5.0694 1.2424 HPS5 rs147053126 11:18311430:C:T 11 18311430 C T 11:18332977 0.93068 117 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertension, essential 0.000577 -1.0407 0.3023 GTF2H1 rs61754646 11:18365795:A:G 11 18365795 A G 11:18387342 0.97697 2866 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of inner ear 0.000403 -0.3496 0.0988 Disturbances of skin sensation 0.0003287 6.51 1.813 LDHA rs116841148 11:18402860:G:T 11 18402860 G T 11:18424407 0.942574 951 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Macular hole 0.000959 2.7812 0.8422 0.002078 37.817 12.283 LDHA rs34305721 11:18403709:G:C 11 18403709 G C 11:18425256 0.974134 0.00239801 0 881 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amblyopia ex anopsia 2.64e-05 3.8557 0.9176 ZDHHC13 rs183284767 11:19163404:G:A 11 19163404 G A 11:19184951 0.973794 3529 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other medical care 0.000176 0.5784 0.1542 Other gastritis (incl. Duodenitis) 2.199e-05 5.577 1.314 CSRP3 rs138218523 11:19186331:C:T 11 19186331 C T 11:19207878 0.989947 1708 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1M;Familial hypertrophic cardiomyopathy 12;Hypertrophic cardiomyopathy;not provided;not specified Oligomenorrhoea 0.00123 1.8019 0.5576 Burn and corrosion of wrist and hand 0.001523 56.944 17.961 CSRP3 rs45550635 11:19192439:A:G 11 19192439 A G 11:19213986 0.99191 378 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Contact with and exposure to communicable diseases 0.000106 3.515 0.9067 SLC6A5 rs12364685 11:20601262:C:G 11 20601262 C G 11:20622808 0.959213 3017 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperekplexia;not provided Infective bursitis 0.000367 1.8638 0.5231 Adrenocortical insufficiency 0.0004753 25.431 7.278 SLC6A5 rs61736602 11:20601391:C:A 11 20601391 C A 11:20622937 0.966016 0.0296444 364 10527 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperekplexia;Hyperekplexia 3;not specified Nasal polyp 5.51e-05 0.3544 0.0879 Benign neoplasms 0.0001189 0.374 0.097 SLC6A5 rs1443547 11:20601429:G:A 11 20601429 G A 11:20622975 0.998506 72137 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Follicular lymphoma (other cancers excluded from controls) 0.000142 -0.3082 0.081 Other and unspecified vasculitis limited to skin 0.000752 0.485 0.144 SLC6A5 rs201319465 11:20601481:A:G 11 20601481 A G 11:20623027 0.884372 146 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of cervix uteri 0.000341 4.4183 1.2334 SLC6A5 rs1443548 11:20601496:T:C 11 20601496 T C 11:20623042 0.993357 69096 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other strabismus 0.000958 -0.1023 0.031 Bullous disorders 0.0008377 -0.146 0.044 SLC6A5 rs3740870 11:20626818:G:C 11 20626818 G C 11:20648364 0.9979 55621 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perioral dermatitis 0.000978 0.4927 0.1494 Other papulosquamous disorders 0.0002602 1.117 0.306 SLC6A5 rs1805091 11:20626834:G:A 11 20626834 G A 11:20648380 0.999885 75816 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other functional intestinal disroders 0.000271 -0.0774 0.0212 Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.0007445 -0.255 0.075 SLC6A5 rs16906628 11:20654773:G:A 11 20654773 G A 11:20676319 0.952738 938 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperekplexia Other psoriatic arthropathies 0.000752 1.6208 0.481 Pain in joint 1.959e-07 6.393 1.229 NELL1 rs117839762 11:20847704:G:A 11 20847704 G A 11:20869250 0.997466 0.0155857 106 5620 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary ovarian failure 1.34e-05 2.3565 0.5413 Benign neoplasm: Oesophagus 0.0001537 26.029 6.877 NELL1 rs55926004 11:20928414:C:T 11 20928414 C T 11:20949960 0.978665 0.001987 6 724 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified paralytic syndromes 7.21e-05 8.7271 2.1986 Toxic effect of contact with venomous animals 0.00129 63.488 19.727 NELL1 rs141323787 11:20947424:G:A 11 20947424 G A 11:20968970 0.90625 212 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tongue abnormality 0.00123 5.7636 1.7831 ANO5 rs143777403 11:22218262:A:G 11 22218262 A G 11:22239808 0.98749 520 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Rheumatoid arthritis 0.00198 0.9547 0.3086 ANO5 rs1265883666 11:22221100:C:CA 11 22221100 C CA 11:22242646 0.934842 159 pLoF both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of male genital organs 0.000554 11.6962 3.3873 ANO5 rs199501657 11:22221158:A:G 11 22221158 A G 11:22242704 0.968731 201 missense_variant both Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malaise and fatigue 0.000151 2.0922 0.5521 ANO5 rs7481951 11:22250324:A:T 11 22250324 A T 11:22271870 0.993339 0.576663 122604 89255 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease (Late onset) 3.38e-05 -0.1413 0.0341 Frostbite 0.0001043 0.389 0.1 ANO5 rs137854529 11:22274605:C:T 11 22274605 C T 11:22296151 0.997562 2235 missense_variant both Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Limb-girdle muscular dystrophy, type 2L;Miyoshi muscular dystrophy 3;not provided Optic atrophy 0.00015 3.3571 0.8855 Diseases of the myoneural junction and muscle 7.781e-07 15.674 3.172 ANO5 rs542510120 11:22274639:CCA:C 11 22274639 CCA C 11:22296185 0.871581 195 pLoF both Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Alzheimer's disease (undefined) (more controls excluded) 0.00149 14.481 4.5575 ANO5 rs61910685 11:22274720:C:T 11 22274720 C T 11:22296266 0.854455 879 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Frostbite 0.00062 7.1045 2.0756 ANO5 rs148293985 11:22279721:A:C 11 22279721 A C 11:22301267 0.974074 198 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic diseases of tonsils and adenoids 0.000256 -0.9861 0.2697 FANCF rs45451294 11:22624852:G:A 11 22624852 G A 11:22646398 0.974075 2045 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Gastrointestinal diseases 0.00016 -0.179 0.0474 Impetigo 0.001957 47.615 15.376 FANCF rs113910234 11:22625254:G:A 11 22625254 G A 11:22646800 0.957375 1895 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fanconi anemia;not specified Non-rheumatic valve diseases 0.000927 0.4316 0.1303 Diseases of arteries, arterioles and capillaries (FINNGEN) 0.0004175 5.07 1.437 FANCF rs61753271 11:22625426:G:C 11 22625426 G C 11:22646972 0.940264 666 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Portal vein thrombosis 0.000332 8.4793 2.3625 FANCF rs61752920 11:22625438:C:T 11 22625438 C T 11:22646984 0.985711 1728 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fanconi anemia;not specified Calcific tendinitis of shoulder 0.00119 1.435 0.4428 Other papulosquamous disorders 0.00114 74.461 22.886 ANO3 rs61746297 11:26442035:C:T 11 26442035 C T 11:26463582 0.986399 2896 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dystonia Major coronary heart disease event excluding revascularizations 0.00109 0.2829 0.0866 Arthropod-borne viral fevers and viral haemorrhagic fevers 0.001054 10.028 3.061 MUC15 rs2292290 11:26565308:A:G 11 26565308 A G 11:26586855 0.936055 124 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholesteatoma of middle ear 0.00147 8.4671 2.6621 MUC15 rs35317037 11:26565471:C:T 11 26565471 C T 11:26587018 0.986762 4728 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm, without specification of site (other cancers excluded from controls) 0.000564 1.2825 0.3719 Pneumococcal septichemia 0.0008097 11.904 3.554 BDNF rs6265 11:27658369:C:T 11 27658369 C T 11:27679916 0.999903 0.154651 8948 47869 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Obesity and other hyperalimentation 8.16e-08 -0.1404 0.0262 Inflammatory diseases of prostate (prostatitis) 0.0008857 0.295 0.089 BDNF rs8192466 11:27658560:G:A 11 27658560 G A 11:27680107 0.987268 273 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other infectious diseases 0.000103 4.0997 1.0559 BDNF rs66866077 11:27699390:C:T 11 27699390 C T 11:27720937 0.99138 0.0315606 428 11167 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Acute nephritic syndrome 3.28e-05 1.1599 0.2793 Acute nephritic syndrome 0.00103 4.847 1.477 FSHB rs148454792 11:30233737:C:A 11 30233737 C A 11:30255284 0.992986 570 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter isolated follicle-stimulating hormone deficiency Pustulosis palmaris et plantaris 0.0016 3.3331 1.0562 Senile cataract 0.002369 1.663 0.547 ELP4 rs201333718 11:31539740:T:C 11 31539740 T C 11:31561287 0.936783 756 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizoid personality disorder 0.00171 3.1008 0.9885 Contact with and exposure to communicable diseases 0.0008548 89.425 26.819 ELP4 rs201699595 11:31603826:C:A 11 31603826 C A 11:31625373 0.986688 732 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of heart beat 0.000714 0.8721 0.2577 ELP4 rs3026404 11:31783430:G:C 11 31783430 G C 11:31804978 0.966125 1526 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn's disease of large intestine 0.00118 1.6434 0.5065 0.000391 1.966 0.554 ELP4 rs200018893 11:31783490:T:C 11 31783490 T C 11:31805038 0.919535 263 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases caused by chlamydiae 0.000518 12.5444 3.6138 RCN1 rs117017377 11:32098358:G:A 11 32098358 G A 11:32119904 0.953461 0.00593923 26 2156 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kela-cod for severe mental illness 4.66e-05 0.7163 0.1759 Pneumonitis due to solids and liquids 0.001058 15.746 4.808 WT1 rs2234584 11:32428521:G:A 11 32428521 G A 11:32450067 0.978952 232 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertensive Renal Disease 0.00011 7.5658 1.9561 WT1 rs762288656 11:32435237:C:T 11 32435237 C T 11:32456783 0.945604 0.000903677 0 332 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 4.05e-05 14.8718 3.6232 NAT10 rs36006049 11:34143506:G:A 11 34143506 G A 11:34165053 0.853413 124 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postmenopausal atrophic vaginitsi 0.000325 13.4261 3.7351 CAT rs147148220 11:34453840:C:T 11 34453840 C T 11:34475387 0.989341 1775 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperparathyroidism 0.000543 0.7824 0.2262 Scar conditions and fibrosis of skin 0.000771 94.685 28.155 APIP rs2956114 11:34916266:G:A 11 34916266 G A 11:34937813 0.996596 87854 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic subdural haemorrhage 0.00109 -0.1407 0.0431 Unspecified lump in breast 0.0004813 0.111 0.032 PDHX rs2956111 11:34916384:G:A 11 34916384 G A 11:34937931 0.996534 87850 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic subdural haemorrhage 0.00108 -0.1408 0.0431 Unspecified lump in breast 0.0004888 0.111 0.032 PDHX rs113073242 11:34916454:A:G 11 34916454 A G 11:34938001 0.999741 0.119819 5270 38750 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Follicular cysts of skin and subcutaneous tissue 7.79e-05 0.1897 0.048 Childhood asthma (age<16) 0.000811 0.315 0.094 PDHX rs118136428 11:34916702:A:C 11 34916702 A C 11:34938249 0.987211 4447 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pyruvate dehydrogenase complex deficiency Myalgia 0.000661 0.4765 0.1399 Multiple delivery 0.0005489 12.999 3.761 PDHX rs1049306 11:34916722:C:T 11 34916722 C T 11:34938269 0.99973 0.119822 5270 38751 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Follicular cysts of skin and subcutaneous tissue 7.8e-05 0.1897 0.048 Childhood asthma (age<16) 0.0008109 0.315 0.094 PDHX rs11539201 11:34916725:C:G 11 34916725 C G 11:34938272 0.986818 0.0572501 1224 19809 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pyruvate dehydrogenase complex deficiency;not provided;not specified Temporomandibular joint disorders 7.96e-05 -0.2733 0.0693 Chronic diseases of tonsils and adenoids 0.0009327 0.247 0.075 PDHX rs11539202 11:34947565:A:G 11 34947565 A G 11:34969112 0.991984 68839 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 0.000429 -0.0393 0.0112 Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs (other cancers excluded from controls) 0.000233 0.266 0.072 PDHX rs138205941 11:34966807:A:G 11 34966807 A G 11:34988354 0.97756 450 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 0.000997 9.7895 2.9744 PDHX rs35560997 11:34978135:G:C 11 34978135 G C 11:34999682 0.943896 2081 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pyruvate dehydrogenase complex deficiency;not provided;not specified Colitis, primary sclerosing 0.00036 3.9341 1.1026 Other contact dermatitis 0.0003051 23.512 6.511 CD44 rs11607491 11:35204536:C:T 11 35204536 C T 11:35226083 0.996331 0.00630668 18 2299 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endocrine, nutritional and metabolic diseases 4.25e-05 0.2105 0.0514 Other prurigo 0.001177 74.266 22.891 CD44 rs61752932 11:35221726:G:A 11 35221726 G A 11:35243273 0.996797 3150 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins of other sites 0.000696 0.9722 0.2867 Other and unspcified rosacea 0.0002537 18.721 5.117 SLC1A2 rs142741081 11:35306136:G:T 11 35306136 G T 11:35327683 0.890961 0.000288523 0 106 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Seborrhoeic keratosis 7.06e-05 4.727 1.1894 TRIM44 rs61758104 11:35726117:A:G 11 35726117 A G 11:35747665 0.97524 6914 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 0.000256 0.1644 0.045 Other diseases of oesophagus 0.0001988 4.682 1.259 LDLRAD3 rs146139497 11:36036192:G:A 11 36036192 G A 11:36057742 0.978111 16777 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other facial nerve disorders 0.000426 -0.7277 0.2065 Acute lymphadenitis 0.000318 1.636 0.455 RAG1 rs76897604 11:36574029:A:G 11 36574029 A G 11:36595579 0.984375 979 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Juvenile rheuma 0.000711 3.9651 1.1712 RAG1 rs3740955 11:36574050:A:G 11 36574050 A G 11:36595600 0.994833 77502 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acne 0.000257 0.1848 0.0506 Arthropod-borne viral fevers and viral haemorrhagic fevers 0.0009807 -0.174 0.053 RAG1 rs4151031 11:36574650:G:A 11 36574650 G A 11:36596200 0.994418 5149 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined cellular and humoral immune defects with granulomas;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not specified conjunctival degenerations and deposits 0.00102 1.3235 0.4029 0.0006384 -0.769 0.225 RAG1 rs2227973 11:36575763:A:G 11 36575763 A G 11:36597313 0.990264 29826 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Histiocytic medullary reticulosis;Severe Combined Immune Deficiency;not specified Peritonsillar abscess 0.00027 0.1687 0.0463 Bronchiectasis 0.0005455 0.764 0.221 RAG1 rs4151033 11:36575942:G:A 11 36575942 G A 11:36597492 0.883757 432 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sequelae of injuries of neck and trunk 0.000266 7.8344 2.1487 RAG1 rs4151034 11:36575963:G:A 11 36575963 G A 11:36597513 0.996217 11210 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined cellular and humoral immune defects with granulomas;Histiocytic medullary reticulosis;Severe Combined Immune Deficiency;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive Lack of expected normal physiological development 0.000205 1.0381 0.2796 Personal history of malignant neoplasm 0.0007879 5.26 1.567 RAG1 rs139113046 11:36576320:A:G 11 36576320 A G 11:36597870 0.99194 3404 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Combined cellular and humoral immune defects with granulomas;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive Loose body in joint 0.00116 1.6145 0.497 Diabetic retinopathy 4.026e-05 2.437 0.594 RAG2 rs145614809 11:36592665:T:C 11 36592665 T C 11:36614215 0.991942 3387 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Combined cellular and humoral immune defects with granulomas;Combined cellular and humoral immune defects with granulomas;Histiocytic medullary reticulosis;Histiocytic medullary reticulosis;Primary immunodeficiency;Recombinase activating gene 2 deficiency;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not specified Loose body in joint 0.00117 1.6128 0.4968 Diabetic retinopathy 0.0001961 1.92 0.516 RAG2 rs147748696 11:36592778:C:T 11 36592778 C T 11:36614328 0.979886 494 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Right bundle-branch block 0.0011 4.4711 1.3701 RAG2 rs34629171 11:36593011:G:T 11 36593011 G T 11:36614561 0.996109 5199 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined cellular and humoral immune defects with granulomas;Combined cellular and humoral immune defects with granulomas;Histiocytic medullary reticulosis;Primary immunodeficiency;Recombinase activating gene 2 deficiency;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive;not specified conjunctival degenerations and deposits 0.00112 1.3011 0.3994 Family history of certain disabilities and chronic diseases leading to disablement 0.001495 8.88 2.796 RAG2 rs150762709 11:36594147:C:T 11 36594147 C T 11:36615697 0.997552 1160 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Combined cellular and humoral immune defects with granulomas;Histiocytic medullary reticulosis;Severe Combined Immune Deficiency;Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive Other other unspecified disorders of the circulatory system 0.000162 3.1274 0.8291 Other maternal disorders predominantly related to pregnancy 8.809e-07 4.442 0.904 EXT2 rs139525250 11:44114268:C:T 11 44114268 C T 11:44135818 0.978672 1939 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary Multiple Osteochondromatosis;not specified Ankylosing spondylitis, strict definition 0.000372 1.9676 0.5528 Other cataract 6.082e-06 9.467 2.093 EXT2 rs149727518 11:44126841:G:A 11 44126841 G A 11:44148391 0.991823 710 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary Multiple Osteochondromatosis Malignant neoplasm of rectum 0.000107 2.8201 0.7282 Impetigo 0.001303 67.238 20.912 EXT2 rs148711133 11:44206885:G:A 11 44206885 G A 11:44228435 0.815161 0.000348406 0 128 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spondylolisthesis/Spondylolysis 4.6e-05 4.6534 1.1419 EXT2 rs138495222 11:44232450:C:T 11 44232450 C T 11:44254000 0.985827 195 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments at wrist and hand level 0.00204 1.8376 0.5957 ALX4 rs3824915 11:44309959:C:G 11 44309959 C G 11:44331509 0.998751 0.467084 80564 91037 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Procreative management 3.76e-05 -0.1063 0.0258 Procreative management 2.317e-05 -0.093 0.022 CD82 rs145881169 11:44605159:G:A 11 44605159 G A 11:44626709 0.939523 219 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Injuries to the neck 0.00019 2.8195 0.7554 SLC35C1 rs7130656 11:45810958:A:G 11 45810958 A G 11:45832509 0.995695 0.122293 5698 39231 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonorganic sleeping disorders (more controls excluded) 9.36e-06 0.2654 0.0599 Other secondary coxarthrosis 8.987e-07 1.377 0.28 SLC35C1 rs145613857 11:45811294:C:T 11 45811294 C T 11:45832845 0.956606 1359 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;Congenital disorder of glycosylation type 2C;not specified Spontaneous abortion 9e-04 0.6298 0.1897 Lactose intolerance 0.0003124 378.459 104.987 PEX16 rs35214605 11:45914138:C:G 11 45914138 C G 11:45935689 0.976651 6293 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peroxisome biogenesis disorders, Zellweger syndrome spectrum;Zellweger syndrome;not provided Dermatopolymyositis (FG) 0.000569 1.7717 0.5141 General examination and investigation of persons without complaint and reported diagnosis 0.000258 1.021 0.279 PEX16 rs11553094 11:45915755:C:T 11 45915755 C T 11:45937306 0.972351 0.0256595 240 9187 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Hypertensive diseases 6.53e-06 0.1432 0.0318 Focal epilepsy 3.446e-05 6.01 1.451 PHF21A rs138242314 11:45934201:T:C 11 45934201 T C 11:45955752 0.982616 492 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amblyopia ex anopsia 0.000294 4.8445 1.3382 Diabetic maculopathy 0.001461 58.491 18.38 CREB3L1 rs187725533 11:46311035:A:T 11 46311035 A T 11:46332586 0.991819 0.00412915 12 1505 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other coagulation defects 1.11e-17 5.3727 0.6276 Malignant neoplasm of respiratory system and intrathoracic organs 8.012e-05 30.477 7.727 DGKZ rs147007748 11:46367331:C:A 11 46367331 C A 11:46388881 0.982538 4124 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.0011 0.4196 0.1285 Juvenile arthritis (FINNGEN) 0.0001135 27.457 7.114 DGKZ rs76583617 11:46379558:C:G 11 46379558 C G 11:46401108 0.97695 785 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter atypical cerebral palsy Systemic atrophies primarly affecting the central nervous system 0.000523 3.5641 1.0276 Fever of other and unknown origin 0.000105 7.511 1.936 ARHGAP1 rs144801476 11:46680520:G:A 11 46680520 G A 11:46702070 0.973905 487 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Connective and other soft tissue, unspecified 0.000744 10.985 3.2569 ZNF408 rs747265231 11:46703166:CAGTGGTGACAGA:C 11 46703166 CAGTGGTGACAGA C 11:46724716 0.996895 0.22176 18330 63142 inframe_indel both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter DVT of lower extremities 2.27e-08 0.1749 0.0313 Venous complications and haemorrhoids in pregnancy 0.0001456 0.729 0.192 F2 rs5896 11:46723453:C:T 11 46723453 C T 11:46745003 0.999769 0.222163 18348 63272 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter DVT of lower extremities 1.68e-08 0.1764 0.0313 Venous complications and haemorrhoids in pregnancy 0.0001517 0.725 0.191 F2 rs62623459 11:46725897:G:A 11 46725897 G A 11:46747447 0.994002 368 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other infective otitis externa 0.00013 4.0186 1.0501 Hypertensive diseases 0 2.109 0 LRP4 rs117936904 11:46864526:A:T 11 46864526 A T 11:46886077 0.986313 20218 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 17;Sclerosteosis 2;Syndactyly Cenani Lenz type;Syndactyly Cenani Lenz type Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.000238 0.4077 0.1109 Disorders of continuity of bone 9.488e-05 1.438 0.368 LRP4 rs3816614 11:46868614:C:T 11 46868614 C T 11:46890165 0.99927 76708 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities 0.000105 -0.1106 0.0285 DVT of lower extremities 8.363e-05 -0.072 0.018 LRP4 rs2306029 11:46871557:T:C 11 46871557 T C 11:46893108 0.999035 0.589238 127950 88529 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of forearm 4.68e-05 0.0722 0.0177 Deforming dorsopathies 0.0001372 0.07 0.018 LRP4 rs140495790 11:46871604:C:T 11 46871604 C T 11:46893155 0.840662 127 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Rectum 0.000189 5.6116 1.5031 LRP4 rs2306033 11:46875895:G:A 11 46875895 G A 11:46897446 0.999798 0.220753 18174 62928 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities 2.72e-08 0.174 0.0313 Venous complications and haemorrhoids in pregnancy 0.0001263 0.74 0.193 LRP4 rs6485702 11:46877220:T:C 11 46877220 T C 11:46898771 0.999811 0.640652 151204 84164 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter DVT of lower extremities 4.71e-05 -0.1078 0.0265 DVT of lower extremities 0.0002978 -0.066 0.018 LRP4 rs61742871 11:46878979:T:C 11 46878979 T C 11:46900530 0.983084 807 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myasthenic syndrome, congenital, 17;Sclerosteosis 2;Syndactyly Cenani Lenz type;Syndactyly Cenani Lenz type;not provided Finngen Rheumatological endpoints 0.00215 -0.3031 0.0988 Chronic conjunctivitis 0.0008227 97.218 29.063 LRP4 rs72897663 11:46894628:T:G 11 46894628 T G 11:46916179 0.984769 0.0751222 2110 25489 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 17;Sclerosteosis 2;Syndactyly Cenani Lenz type;Syndactyly Cenani Lenz type Fracture of forearm 5.87e-05 0.1311 0.0326 Kyphosis 0.0001187 3.85 1 LRP4 rs118009068 11:46895950:G:A 11 46895950 G A 11:46917501 0.969488 5825 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenic syndrome, congenital, 17;Sclerosteosis 2;Syndactyly Cenani Lenz type;Syndactyly Cenani Lenz type Torsion of testis 0.00101 1.2664 0.3852 Sensorineural hearing loss 0.0006682 0.94 0.276 DDB2 rs143049891 11:47238177:G:A 11 47238177 G A 11:47259728 0.995053 775 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Meniscus derangement 0.000178 0.614 0.1638 Congenital malformations of the respiratory system 0.0004676 163.14 46.629 ACP2 rs145420520 11:47240211:A:G 11 47240211 A G 11:47261762 0.980448 3918 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neurotic, stress-related and somatoform disorders 0.00011 -0.2312 0.0598 Chronic Coagulation defects 0.0002558 19.578 5.354 ACP2 rs2167079 11:47248704:C:T 11 47248704 C T 11:47270255 0.9999 88163 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria DVT of lower extremities 0.000181 0.0966 0.0258 Other epidermal thickening 4.459e-06 0.332 0.072 ACP2 rs41275182 11:47248762:G:A 11 47248762 G A 11:47270313 0.986651 2367 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute and subacute iridocyclitis 0.000542 0.6589 0.1905 Congenital malformations of uterus and cervix 0.001526 59.624 18.811 MADD rs61751747 11:47281614:A:G 11 47281614 A G 11:47303165 0.997389 0.0294103 370 10435 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hammer toe(s) (acquired) 9.48e-05 0.3616 0.0926 Arthrosis 0.0005213 0.409 0.118 MADD rs138087178 11:47282899:A:G 11 47282899 A G 11:47304450 0.981344 405 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.00045 1.3505 0.3849 MYBPC3 rs187705120 11:47332891:C:T 11 47332891 C T 11:47354442 0.98361 3916 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Post-traumatic stress disorder 0.000108 1.0345 0.2672 Other postsurgical states 0.001337 8.981 2.8 MYBPC3 rs370890951 11:47332912:A:G 11 47332912 A G 11:47354463 0.984542 0.0029179 6 1066 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiac arrest;Cardiovascular phenotype;Hypertrophic cardiomyopathy;not specified Other coagulation defects 4.09e-12 5.1137 0.7375 Guttate psoriasis 0.0002722 259.952 71.408 MYBPC3 rs397516005 11:47333566:G:A 11 47333566 G A 11:47355117 0.827562 0.000315742 0 116 pLoF dominant Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrophic cardiomyopathy 5.45e-27 56.065 5.2116 MYBPC3 rs193922380 11:47335077:G:C 11 47335077 G C 11:47356628 0.944664 152 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified vascular occlusions 0.000343 6.0132 1.6793 MYBPC3 rs35078470 11:47335928:C:T 11 47335928 C T 11:47357479 0.99418 0.0248239 230 8890 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided;not specified Seropositive rheumatoid arthritis 6.55e-06 0.3811 0.0845 Oesophagitis 0.0001212 5.568 1.449 MYBPC3 rs199865688 11:47337496:C:T 11 47337496 C T 11:47359047 0.977846 1068 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Left ventricular noncompaction 10;Paroxysmal atrial fibrillation;Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified Macular pucker 0.000557 1.7275 0.5005 Vestibular neuronitis 0.001499 59.539 18.753 MYBPC3 rs34580776 11:47346320:C:T 11 47346320 C T 11:47367871 0.998212 4751 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Dilated cardiomyopathy 1A;Familial hypertrophic cardiomyopathy 4;Hypertrophic cardiomyopathy;Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not provided;not specified Schizophrenia 0.000267 0.5815 0.1595 Disorders of gallbladder, biliary tract and pancreas 0.0008424 1.315 0.394 MYBPC3 rs727504234 11:47347658:G:A 11 47347658 G A 11:47369209 0.842514 87 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of lower leg 0.000629 3.9705 1.1613 MYBPC3 rs3729989 11:47348490:T:C 11 47348490 T C 11:47370041 0.999103 42705 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetic ketoacidosis 0.000644 0.1277 0.0374 Pervasive developmental disorders excl. Autism + Asperger 0.000449 1.539 0.439 MYBPC3 rs11570052 11:47349863:C:T 11 47349863 C T 11:47371414 0.966884 208 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinal detachment with retinal break 0.000725 3.2903 0.9735 MYBPC3 rs3729986 11:47350047:C:T 11 47350047 C T 11:47371598 0.996346 0.103368 4046 33930 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonalcoholic fatty liver disease 1.59e-05 0.4016 0.0931 Family history of certain disabilities and chronic diseases leading to disablement 0.0001706 1.102 0.293 MYBPC3 rs730880615 11:47350079:G:A 11 47350079 G A 11:47371630 0.975274 0.00445578 6 1631 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Enteropathic arthropathies 6.26e-05 3.5099 0.8768 Persons encountering health services in other circumstances 0 3.666 0 SLC39A13 rs61897432 11:47410152:A:G 11 47410152 A G 11:47431703 0.999824 44252 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Infective dermatitis 0.000245 0.2135 0.0582 0.0005921 0.12 0.035 SLC39A13 rs35741412 11:47410213:G:A 11 47410213 G A 11:47431764 0.98527 3457 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spondylocheirodysplasia, Ehlers-Danlos syndrome-like;not specified Other embolism and thrombosis 0.000242 0.7602 0.2071 Conduction disorders 0.0003919 4.364 1.231 SLC39A13 rs140574574 11:47412022:C:T 11 47412022 C T 11:47433573 0.996854 224 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pemphigoid 0.000333 14.3142 3.9897 RAPSN rs45617144 11:47437918:G:A 11 47437918 G A 11:47459469 0.999351 44528 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Infective dermatitis 0.000115 0.2242 0.0581 0.0004043 0.124 0.035 RAPSN rs140996453 11:47441702:C:T 11 47441702 C T 11:47463254 0.995071 463 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Rosacea 0.000373 2.8717 0.807 Hypertensive Heart Disease 4.922e-06 15.106 3.307 RAPSN rs34625105 11:47442732:C:T 11 47442732 C T 11:47464284 0.978244 2888 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Myasthenic Syndrome, Recessive;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I;Pena-Shokeir syndrome type I;not specified Congenital malformations of the nervous system 0.000546 2.3944 0.6926 Pyothorax 0.003305 27.666 9.417 RAPSN rs57878668 11:47448102:A:G 11 47448102 A G 11:47469654 0.999705 4670 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Myasthenic Syndrome, Recessive;Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency;Pena-Shokeir syndrome type I;Pena-Shokeir syndrome type I;not provided;not specified Inflammatory disorders of breast 0.00028 1.0651 0.2932 Osteomyelitis 0.0008704 11.433 3.434 RAPSN rs34312154 11:47448793:G:A 11 47448793 G A 11:47470345 0.999818 0.205478 15676 59814 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter DVT of lower extremities 1.8e-05 0.1387 0.0323 Placenta praevia 0.0003891 0.45 0.127 NDUFS3 rs2030166 11:47581177:C:T 11 47581177 C T 11:47602729 0.99799 0.356353 46894 84026 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 7.54e-05 -0.1657 0.0418 Other diabetic retinopathy 0.00033 0.203 0.056 FNBP4 rs138653244 11:47724144:G:C 11 47724144 G C 11:47745696 0.99484 20292 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Influenza and pneumonia 0.00025 0.0836 0.0228 0.001204 2.91 0.899 FNBP4 rs2305985 11:47750993:T:C 11 47750993 T C 11:47772545 0.993538 1481 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other localized connective tissue disorders 0.000454 2.7116 0.7733 Burn and corrosion of wrist and hand 0.0009983 79.496 24.156 FNBP4 rs148965139 11:47751159:G:C 11 47751159 G C 11:47772711 0.990156 5304 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.000135 2.3036 0.6035 Calculus of kidney and ureter 7.286e-05 2.315 0.584 FNBP4 rs34962598 11:47754604:T:C 11 47754604 T C 11:47776156 0.99517 1155 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter IBD patients in KELA-register 0.00129 -0.8106 0.2519 3.299e-07 -3.103 0.608 FNBP4 rs61733165 11:47767111:CGGTGGT:C 11 47767111 CGGTGGT C 11:47788663 0.998569 85200 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with other specified/multiple/unspecified complications 0.000179 -0.0496 0.0132 Congenital malformations of cardiac septa 0.0001586 0.229 0.061 NUP160 rs56962998 11:47779171:T:C 11 47779171 T C 11:47800723 0.998236 4883 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other epidermal thickening 0.000377 1.2698 0.3571 Kela-code for behavioural disturbances in mental retardation 5.721e-05 38.154 9.481 PTPRJ rs1566734 11:48123823:A:C 11 48123823 A C 11:48145375 0.99972 32815 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Fitting and adjustment of other devices 0.000571 -0.2106 0.0611 Fourth [trochlear] nerve palsy 0.0001182 1.915 0.498 PTPRJ rs61739179 11:48127939:G:A 11 48127939 G A 11:48149491 0.985154 0.0244156 234 8736 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Seropositive rheumatoid arthritis 1.71e-05 0.3664 0.0852 Postmenopausal osteoporosis with pathological fracture 7.813e-05 5.895 1.492 FOLH1 rs138510346 11:49192828:G:C 11 49192828 G C 11:49214380 0.974997 2789 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tuberculosis 0.000324 1.0556 0.2936 Melanoma in situ 0.003751 25.376 8.755 SSRP1 rs145267582 11:57334623:C:T 11 57334623 C T 11:57102097 0.989126 1619 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 0.000881 1.0393 0.3125 Transport accidents 0.0006382 126.636 37.084 SLC43A1 rs35730224 11:57491720:C:G 11 57491720 C G 11:57259193 0.993458 2067 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amblyopia ex anopsia 0.000621 1.8001 0.526 0.001076 80.429 24.597 SERPING1 rs28362944 11:57598250:T:C 11 57598250 T C 11:57365723 0.985039 0.0536517 1070 18641 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary Angioedema Other cataract 9.03e-05 0.1738 0.0444 Dyspnoea 1.281e-05 0.405 0.093 SERPING1 rs185342631 11:57598275:C:T 11 57598275 C T 11:57365748 0.974452 646 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Complement component 4, partial deficiency of;Hereditary Angioedema;Hereditary angioedema type 1 ILD-related respiratory insufficiency 0.00046 0.8718 0.2489 Erythema intertrigo 0.00038 214.103 60.249 SERPING1 rs4926 11:57614516:G:A 11 57614516 G A 11:57381989 0.999616 77950 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of thyroid, IBD co-morbidities 0.000123 -0.1071 0.0279 Unspecified lump in breast 0.0007868 0.132 0.039 CLP1 rs147951568 11:57660808:T:C 11 57660808 T C 11:57428280 0.996127 7383 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Venous complications and haemorrhoids in pregnancy 0.00085 1.5135 0.4537 Calcaneal spur 0.0004041 15.912 4.498 CTNND1 rs145191455 11:57791633:A:G 11 57791633 A G 11:57559105 0.954568 808 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Excessive vomiting in pregnancy 0.00119 2.2906 0.7069 Complications of genitourinary prosthetic devices, implants and grafts 0.00098 82.889 25.147 FAM111A rs533676902 11:59152449:G:GGCAGATACTT 11 59152449 G GGCAGATACTT 11:58919922 0.976569 2723 LC dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility, associated with anovulation 0.000967 1.0654 0.3229 Malignant neoplasm of larynx 0.001139 74.231 22.813 PATL1 rs183877144 11:59655677:G:A 11 59655677 G A 11:59423150 0.952268 0.00117587 0 432 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hallux valgus (acquired) 6.14e-05 1.1784 0.2941 STX3 rs2229915 11:59773224:A:G 11 59773224 A G 11:59540697 0.998366 1788 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Colitis, primary sclerosing 0.000532 4.2763 1.2345 Sleep disorders (combined) 0.0001837 3.071 0.821 GIF rs150884181 11:59843108:A:G 11 59843108 A G 11:59610581 0.978804 9941 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intrinsic factor deficiency Benign neoplasms 0.000359 -0.0923 0.0259 Maternal care for known or suspected disproportion 0.0004048 3.937 1.113 GIF rs139444835 11:59843917:T:C 11 59843917 T C 11:59611390 0.959005 1836 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Intrinsic factor deficiency Other and unspecified erythematous conditions 0.000564 2.5138 0.729 Other lesions of median nerve 0.0001237 26.446 6.889 GIF rs144916324 11:59843981:A:T 11 59843981 A T 11:59611454 0.968148 865 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Outcome of delivery 0.000248 0.9014 0.246 GIF rs35211634 11:59845386:T:C 11 59845386 T C 11:59612859 0.990891 32084 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspcified rosacea 0.000445 0.3123 0.0889 Dermatitis due to substances taken internally 0.0008427 0.627 0.188 TCN1 rs142805308 11:59854773:T:C 11 59854773 T C 11:59622246 0.977196 1723 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bullous pemphigoid 0.000359 3.9274 1.1006 Benign neoplasm: Sigmoid colon 0.0002524 17.109 4.675 TCN1 rs72550758 11:59855881:C:T 11 59855881 C T 11:59623354 0.992581 609 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperaldosteronism 0.00045 4.7583 1.356 Convergent concomitant strabismus 0.0003284 17.33 4.825 TCN1 rs34324219 11:59855905:C:A 11 59855905 C A 11:59623378 0.983501 0.106381 4376 34707 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Short bones of upper limb 7.46e-05 0.7481 0.1889 Haemmorrhoids and perianal venous thrombosis 0.0006126 0.304 0.089 TCN1 rs34528912 11:59864062:C:T 11 59864062 C T 11:59631535 0.993615 0.053453 1088 18550 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transcobalamin I deficiency;not provided Other and unspecified injuries of thorax 6.29e-05 1.1764 0.294 Diseases of male genital organs 0.00133 -0.25 0.078 MS4A2 rs569108 11:60095631:A:G 11 60095631 A G 11:59863104 0.95563 986 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Atopic asthma, susceptibility to Other female pelvic inflammatory diseases 0.00087 0.9883 0.2969 Other heart diseases 2.7e-05 3.145 0.749 TMEM138 rs200399046 11:61366163:A:G 11 61366163 A G 11:61133635 0.961822 380 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Normal-pressure hydrocephalus 0.0036 6.1205 2.1025 TMEM216 rs201614099 11:61397833:T:A 11 61397833 T A 11:61165305 0.986687 0.00129019 0 474 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bacterial meningitis 9.23e-05 5.1623 1.3203 TMEM216 rs11382548 11:61398259:C:CA 11 61398259 C CA 11:61165731 0.994983 36950 pLoF recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of the respiratory system 0.000384 0.038 0.0107 Diseases of the respiratory system 0.0002712 0.021 0.006 TMEM216 rs10897158 11:61398269:G:C 11 61398269 G C 11:61165741 0.99494 38213 pLoF recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of the respiratory system 0.000634 0.036 0.0105 Diseases of the respiratory system 0.000485 0.02 0.006 PPP1R32 rs146231065 11:61484728:A:G 11 61484728 A G 11:61252200 0.985102 0.0046327 16 1686 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unsepcified mononeuropathies, also in other diseases 1.13e-05 3.2232 0.7342 Asthma/COPD-related acute respiratory infections 9.964e-05 2.072 0.532 DAGLA rs117050893 11:61744322:C:G 11 61744322 C G 11:61511794 0.980991 1939 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyrotoxicosis, other and/or unspecified 0.000282 0.8034 0.2212 Malignant neoplasm of small intestine (other cancers excluded from controls) 0.0006457 107.156 31.409 BEST1 rs121918284 11:61955892:G:A 11 61955892 G A 11:61723364 0.884451 0.00224014 6 817 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Bestrophinopathy, autosomal recessive;Retinitis Pigmentosa, Recessive;Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not provided Other and unspecified mononeuropathies of lower limb 7.31e-05 4.1507 1.0466 Other specified and unspecified retinal disorders 5.432e-07 245.364 48.971 BEST1 rs1801390 11:61959966:C:T 11 61959966 C T 11:61727438 0.983525 17454 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Iron Overload;Retinitis Pigmentosa, Recessive;Vitelliform macular dystrophy type 2;Vitreoretinochoroidopathy;not provided;not specified Malignant neoplasm of brain 0.000103 0.6975 0.1796 Other disorders of bladder 0.001803 1.047 0.335 BEST1 rs141071579 11:61962673:T:C 11 61962673 T C 11:61730145 0.989659 302 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Von Willebrand disease 0.000356 14.1721 3.9688 FTH1 rs186448909 11:61965469:T:C 11 61965469 T C 11:61732941 0.976104 1008 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General examination and investigation of persons without complaint and reported diagnosis 0.000142 0.4985 0.131 INCENP rs61893682 11:62150080:G:C 11 62150080 G C 11:61917552 0.991345 0.011051 64 3996 missense_variant unknown Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Nephronophthisis Cystitis 2.84e-05 -0.3784 0.0904 Injuries to the neck 0.0003837 3.959 1.115 AHNAK rs142839608 11:62516833:G:C 11 62516833 G C 11:62284305 0.998158 2265 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic ketoacidosis 0.00077 0.5267 0.1566 Benign neoplasm: Stomach 0.0004086 15.073 4.265 AHNAK rs201931126 11:62518528:C:T 11 62518528 C T 11:62286000 0.987986 2041 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other maternal disorders predominantly related to pregnancy 0.00294 -0.3241 0.109 0.0006806 -1.065 0.313 AHNAK rs116243978 11:62518693:C:G 11 62518693 C G 11:62286165 0.941324 6202 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of procedures, not elsewhere classified 0.000403 -0.1929 0.0545 Oesophageal obstruction 0.002203 7.217 2.357 AHNAK rs114515655 11:62519194:C:T 11 62519194 C T 11:62286666 0.960347 0.0103678 28 3781 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pyogenic arthritis 3.62e-05 1.1207 0.2713 Other symptoms and signs involving cognitive functions and awareness 0.0003378 3.719 1.038 AHNAK rs143974724 11:62520870:C:T 11 62520870 C T 11:62288342 0.980885 1238 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of veins 0.00107 0.6156 0.1882 AHNAK rs76414066 11:62529120:C:A 11 62529120 C A 11:62296592 0.946273 1290 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary uncertain malignant neoplasm 0.000686 1.2513 0.3686 Nerve, nerve root and plexus disorders 0 4.211 0 AHNAK rs115036524 11:62529420:T:C 11 62529420 T C 11:62296892 0.991633 2587 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lower back pain or/and sciatica 0.00103 -0.2348 0.0715 Stroke, including SAH 0.0004367 1.788 0.508 AHNAK rs75066541 11:62529990:A:G 11 62529990 A G 11:62297462 0.964351 1503 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol abuse, main dg (more controls excluded) 0.000383 1.0444 0.2941 Other demyelinating diseases of the central nervous system 0.001484 58.081 18.277 TUT1 rs117162358 11:62577271:C:T 11 62577271 C T 11:62344743 0.978457 0.0105474 30 3845 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pyogenic arthritis 5.53e-05 1.0754 0.2667 Other symptoms and signs involving cognitive functions and awareness 0.0003462 3.696 1.033 ROM1 rs1801144 11:62614336:G:C 11 62614336 G C 11:62381808 0.997638 0.245531 22400 67805 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atherosclerosis, excluding cerebral, coronary and PAD 7.88e-05 0.1005 0.0254 Prolapse and hernia of ovary and fallopian tube 0.000935 0.284 0.086 ROM1 rs150168119 11:62614353:G:A 11 62614353 G A 11:62381825 0.982367 3915 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant;not specified Other orthopaedic follow-up care 0.00503 -0.7378 0.263 Malignant neoplasm of vulva (other cancers excluded from controls) 0.001427 61.668 19.337 B3GAT3 rs140755387 11:62617051:C:T 11 62617051 C T 11:62384523 0.970557 412 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Symptoms and signs involving the circulatory and respiratory systems 0.000421 -0.4398 0.1247 GANAB rs1063445 11:62632636:G:A 11 62632636 G A 11:62400108 0.992501 973 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disturbance of activity and attention 0.000844 2.4232 0.726 GANAB rs138726440 11:62632644:T:C 11 62632644 T C 11:62400116 0.975436 3471 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemangioma and lymphangioma, any site (other cancers excluded from controls) 0.00175 0.7761 0.248 Somnolence, stupor and coma 0.0006332 12.678 3.71 UQCC3 rs55638384 11:62672082:G:C 11 62672082 G C 11:62439554 0.987818 6950 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Abnormal findings on diagnostic imaging of breast 0.000259 1.9377 0.5304 1.904e-05 3.394 0.794 UQCC3 rs13941 11:62672097:G:A 11 62672097 G A 11:62439569 0.998916 0.772576 219612 64223 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons with potential health hazards related to communicable diseases 3.58e-05 0.1874 0.0453 Persons with potential health hazards related to communicable diseases 0.0001896 0.102 0.027 BSCL2 rs145649423 11:62690476:A:G 11 62690476 A G 11:62457948 0.955388 0.00143717 0 528 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Low back pain 9.83e-05 0.8574 0.2201 BSCL2 rs556562410 11:62690633:GCTC:G 11 62690633 GCTC G 11:62458105 0.886222 147 inframe_indel both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the musculoskeletal system and connective tissue 0.000131 -0.7405 0.1936 BSCL2 rs6856 11:62690803:T:C 11 62690803 T C 11:62458275 0.99968 45074 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Status epilepticus 0.000305 0.3955 0.1095 Other obstructed labour 0.0003046 0.596 0.165 BSCL2 rs144245125 11:62690840:G:A 11 62690840 G A 11:62458312 0.978145 0.00102616 2 375 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of urinary system 3.11e-05 0.778 0.1868 NXF1 rs191516295 11:62801631:G:C 11 62801631 G C 11:62569103 0.963243 392 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatitis and eczema 0.000282 0.7329 0.2018 SLC3A2 rs116829615 11:62885478:G:T 11 62885478 G T 11:62652950 0.985226 1150 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Herpesviral keratitis and keratoconjunctivitis 0.000803 2.2216 0.6628 0.0001626 -1.861 0.494 ATL3 rs200918566 11:63658793:C:T 11 63658793 C T 11:63426265 0.974744 322 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter conjunctival haemorrhage 0.00205 3.7761 1.2247 FLRT1 rs116999073 11:64116674:A:G 11 64116674 A G 11:63884146 0.938022 268 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Urticaria 0.000218 1.7737 0.4798 FLRT1 rs138676741 11:64117451:C:T 11 64117451 C T 11:63884923 0.982715 534 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of cervix uteri 0.000193 3.1522 0.8456 FLRT1 rs61735088 11:64118110:C:T 11 64118110 C T 11:63885582 0.995756 1843 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Scleritis and episcleritis 0.000277 1.6993 0.4673 Disturbances of skin sensation 7.839e-05 10.101 2.558 FERMT3 rs149000560 11:64207494:G:A 11 64207494 G A 11:63974966 0.993036 1006 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm of other and ill-defined parts of digestive system 0.000922 1.1776 0.3554 FERMT3 rs142815441 11:64207523:C:G 11 64207523 C G 11:63974995 0.98573 446 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments at ankle and foot level 0.000309 1.2102 0.3355 FERMT3 rs200176196 11:64211325:G:A 11 64211325 G A 11:63978797 0.993585 625 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypertrophic scar 0.000338 3.2971 0.9199 FERMT3 rs72920390 11:64220441:G:A 11 64220441 G A 11:63987913 0.992169 1295 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leukocyte adhesion deficiency, type III Benign neoplasm: Choroid (other cancers excluded from controls) 0.000242 2.6111 0.7114 Hereditary retinal dystrophy 0.000555 142.331 41.223 FERMT3 rs3802933 11:64220630:C:T 11 64220630 C T 11:63988102 0.999382 0.170536 10916 51737 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute appendicitis, no complications 1.2e-05 0.0869 0.0198 Gonarthrosis, primary, with knee surgery 1.112e-05 0.177 0.04 VEGFB rs200540705 11:64237625:G:A 11 64237625 G A 11:64005097 0.995356 854 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Subjective visual disturbances 0.00013 1.2994 0.3396 PLCB3 rs145502455 11:64263558:G:A 11 64263558 G A 11:64031030 0.998867 0.0113613 52 4122 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of ankle and foot 5.13e-05 1.7284 0.4268 Redundant prepuce, phimosis and paraphimosis 0.0004922 3.344 0.96 ESRRA rs117285599 11:64307271:C:T 11 64307271 C T 11:64074743 0.898122 116 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Subacute thyroiditis 0.000264 15.1261 4.1459 NRXN2 rs148473653 11:64648884:T:C 11 64648884 T C 11:64416356 0.983667 611 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rheumatic valve diseases 0.000609 3.9901 1.1641 NRXN2 rs200169230 11:64667526:G:A 11 64667526 G A 11:64434998 0.82877 232 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Oher diseases of blood and blood-forming organs 0.000388 5.8522 1.6493 NRXN2 rs146308270 11:64685708:C:T 11 64685708 C T 11:64453180 0.987279 416 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Background retinopathy and retinal vascular changes 0.000753 6.9141 2.052 Depression 0 5.384 0 NRXN2 rs12273892 11:64713458:A:T 11 64713458 A T 11:64480930 0.991175 62483 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Asthma (only as main-diagnosis) (more controls excluded) 0.000336 -0.0596 0.0166 Asthma (more controls excluded) 5.156e-05 -0.087 0.021 PYGM rs113806080 11:64750544:G:A 11 64750544 G A 11:64518016 0.987381 6694 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm of male genital organs 0.000538 1.3986 0.4041 Other disorders of glucose regulation and pancreatic internal secretion 0.0007474 5.335 1.582 PYGM rs139570786 11:64752486:T:C 11 64752486 T C 11:64519958 0.992624 2574 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glycogen storage disease, type V;not provided;not specified Contusion of other and unspecified parts of foot 0.00123 1.509 0.4668 Acute mastoiditis 0.0006033 131.133 38.23 PYGM rs200357590 11:64753958:C:T 11 64753958 C T 11:64521430 0.993474 786 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unknown and unspecified causes of morbidity 0.00017 2.4058 0.6398 PYGM rs114468011 11:64755280:T:C 11 64755280 T C 11:64522752 0.985383 302 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Persons encountering health services for specific procedures, not carried out 0.00234 4.8044 1.5785 PYGM rs77656150 11:64757862:C:A 11 64757862 C A 11:64525334 0.980131 285 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other medical care 0.000563 2.1211 0.615 MAP4K2 rs34264803 11:64796285:C:T 11 64796285 C T 11:64563757 0.963043 613 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of neck 0.00116 6.0056 1.8492 Asthma, unspecified (mode) 5.005e-09 7.507 1.284 MAP4K2 rs115646677 11:64802074:C:A 11 64802074 C A 11:64569546 0.959837 514 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tic disorders (more controls excluded) 0.00139 8.9947 2.8147 Asthma, unspecified (mode) 5.005e-09 7.507 1.284 MEN1 rs2959656 11:64804546:T:C 11 64804546 T C 11:64572018 0.997716 0.981668 354020 6633 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thyroiditis, unspecified 4.35e-05 -1.9428 0.4752 Thyroiditis, unspecified 3.159e-05 -1.001 0.241 MEN1 rs773500082 11:64807200:T:C 11 64807200 T C 11:64574672 0.848737 173 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter with reimbursement 0.000525 1.9263 0.5555 MEN1 rs607969 11:64808033:C:T 11 64808033 C T 11:64575505 0.98296 0.00619236 12 2263 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Multiple endocrine neoplasia;Multiple endocrine neoplasia, type 1;not provided;not specified Asthma/COPD-related acute respiratory infections 3.54e-05 0.2406 0.0582 Adult respiratory distress syndrome 0.0005518 140.315 40.621 CAPN1 rs148743672 11:65209374:T:C 11 65209374 T C 11:64976845 0.983976 665 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rheumatic fever incl heart disease 0.000471 3.6324 1.0389 Adult respiratory distress syndrome 0.0002502 266.644 72.812 SCYL1 rs202155473 11:65537049:C:T 11 65537049 C T 11:65304520 0.993707 10368 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Continuous positive airway pressure 0.000468 -0.3456 0.0988 Labour and delivery complicated by umbilical cord complications 0.0001566 5.168 1.367 SCYL1 rs56076708 11:65537838:G:T 11 65537838 G T 11:65305309 0.97489 495 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Suggestive for eosinophilic asthma 0.000389 2.8363 0.7996 Diseases of external ear 0.0004052 13.015 3.68 SCYL1 rs201119677 11:65538093:C:T 11 65538093 C T 11:65305564 0.968415 0.00507093 14 1849 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 3.36e-05 1.788 0.4311 Retinoschisis and retinal cysts 0.0009637 72.553 21.98 LTBP3 rs148780991 11:65546806:G:C 11 65546806 G C 11:65314277 0.820306 192 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumoconiosis due to asbestos and other mineral fibres 0.00035 15.14 4.2348 RELA rs61759893 11:65658293:C:T 11 65658293 C T 11:65425764 0.968802 0.00801333 22 2922 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of bone density and structure 6.79e-06 2.712 0.6027 Disorders of iron metabolism 0.000679 114.788 33.782 RNASEH2C rs182000627 11:65720032:C:T 11 65720032 C T 11:65487503 0.966586 1076 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Aicardi Goutieres syndrome;Aicardi Goutieres syndrome 3 Radiation-related disorders of the skin and subcutaneous tissue 0.000523 0.7984 0.2302 Superficial injury of thorax 0.0003552 16.284 4.56 AP5B1 rs201041158 11:65779292:G:A 11 65779292 G A 11:65546763 0.96065 680 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hereditary spastic paraplegia Foreign body in respiratory tract 0.00232 2.5013 0.8213 Hypertensive diseases 0 2.115 0 EFEMP2 rs572394429 11:65866636:G:A 11 65866636 G A 11:65634107 0.823129 87 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dermatitis due to substances taken internally 0.000762 7.9211 2.3532 EFEMP2 rs148410446 11:65868335:T:C 11 65868335 T C 11:65635806 0.993077 1847 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autosomal recessive cutis laxa type 1B;Cutis laxa, recessive Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 0.000883 3.1782 0.9558 Excessive, freguent and irrelgular menstruation 0.0001916 1.774 0.476 EFEMP2 rs2234462 11:65871247:C:T 11 65871247 C T 11:65638718 0.986671 0.00836173 22 3050 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autosomal recessive cutis laxa type 1B;not provided;not specified Other diabetes, wide definition 6.32e-05 0.2465 0.0616 Abnormal findings on diagnostic imaging of breast 0.001361 65.798 20.544 EFEMP2 rs144320036 11:65871991:G:A 11 65871991 G A 11:65639462 0.849283 199 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 0.00106 3.6129 1.104 CATSPER1 rs1203998 11:66025983:C:T 11 66025983 C T 11:65793454 0.998308 79527 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Poisoning by narcotics and psychodysleptics [hallucinogens] 0.000153 -0.4497 0.1188 Hypertrophic scar 0.0005487 0.24 0.069 SF3B2 rs11554199 11:66052460:G:T 11 66052460 G T 11:65819931 0.973613 0.00200605 4 733 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter MS-disease / Multiple Sclerosis 1.03e-05 3.0927 0.7011 CD248 rs74818906 11:66315572:C:T 11 66315572 C T 11:66083043 0.891342 628 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nystagmus and other irregular eye movements 0.00193 7.8624 2.5362 Pyogenic arthritis 0.002167 39.081 12.745 CD248 rs150281243 11:66316120:G:A 11 66316120 G A 11:66083591 0.984893 2381 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications predominantly related to the puerperium 0.000265 0.7739 0.2122 Benign neoplasm: Rectum/anal canal icd-9 0.0004077 152.303 43.083 B4GAT1 rs531686913 11:66347394:G:A 11 66347394 G A 11:66114865 0.97824 0.000585212 0 215 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of radial nerve 2.95e-05 10.5346 2.5217 NPAS4 rs71457718 11:66424388:C:A 11 66424388 C A 11:66191859 0.864491 292 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on examination of other body fluids, substances and tissues, without diagnosis 0.000856 1.1377 0.3412 BBS1 rs138744839 11:66514481:G:A 11 66514481 G A 11:66281952 0.961619 293 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-follicular lymphoma 0.000309 4.1876 1.1609 BBS1 rs2298806 11:66514624:G:A 11 66514624 G A 11:66282095 0.999504 85254 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schizophrenia, schizotypal and delusional disorders 0.000119 -0.0977 0.0254 Inguinal hernia 3.182e-05 0.059 0.014 BBS1 rs748523268 11:66521269:G:C 11 66521269 G C 11:66288740 0.938411 341 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Traumatic subarachnoid haemorrhage 0.000619 7.1137 2.0782 BBS1 rs113624356 11:66526181:T:G 11 66526181 T G 11:66293652 0.896868 254 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contracture of joint 0.000169 15.0591 4.0037 CTSF rs150922871 11:66564558:G:A 11 66564558 G A 11:66332029 0.997867 0.0179402 120 6471 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the myoneural junction and muscle 5.02e-06 0.7212 0.158 Presbycusis 1.523e-05 5.011 1.159 CTSF rs28464796 11:66564618:G:A 11 66564618 G A 11:66332089 0.847423 238 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other bursitis of knee 0.00109 13.2846 4.0664 CTSF rs148611356 11:66566329:G:C 11 66566329 G C 11:66333800 0.994208 362 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ceroid lipofuscinosis, neuronal, 13;Seizures;not provided Bursitis of shoulder 0.000471 7.9997 2.2876 Disturbances of smell and taste 0.0002174 299.86 81.089 CTSF rs143313688 11:66566336:G:A 11 66566336 G A 11:66333807 0.988841 671 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiac murmurs and other cardiac sounds 0.000284 2.218 0.611 Corneal scars and opacities 0.0006207 127.168 37.158 SPTBN2 rs35532855 11:66690210:C:T 11 66690210 C T 11:66457681 0.995275 3838 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinocerebellar Ataxia, Dominant;not provided Fracture of lumbar spine and pelvis 0.00155 0.4843 0.153 Heterophoria 0.002268 7.161 2.346 SPTBN2 rs376594612 11:66699464:A:T 11 66699464 A T 11:66466935 0.944846 232 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other retinal disorders 0.00147 1.0569 0.3323 SPTBN2 rs139077453 11:66699511:T:C 11 66699511 T C 11:66466982 0.927509 386 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injury of nerves at wrist and hand level 0.000694 4.9977 1.4734 SPTBN2 rs148826890 11:66700983:C:T 11 66700983 C T 11:66468454 0.922466 487 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperhidrosis 0.000101 6.3162 1.6243 SPTBN2 rs506028 11:66700998:A:G 11 66700998 A G 11:66468469 0.996403 49800 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular pucker 0.000713 -0.2166 0.064 DVT of lower extremities and pulmonary embolism 0.0002636 -0.154 0.042 SPTBN2 rs199968321 11:66705304:G:A 11 66705304 G A 11:66472775 0.946777 636 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of rib(s), sternum and thoracic spine 0.0018 1.0572 0.3387 SPTBN2 rs143155918 11:66707713:C:T 11 66707713 C T 11:66475184 0.844537 0.000348406 0 128 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertrophic cardiomyopathy 2.15e-06 20.888 4.4077 C11orf80 rs200048907 11:66842947:G:A 11 66842947 G A 11:66610418 0.982242 746 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiac murmurs and other cardiac sounds 0.000593 1.9499 0.5677 Corneal scars and opacities 0.0009276 90.526 27.336 GPR152 rs79423227 11:67452544:C:T 11 67452544 C T 11:67220015 0.987647 6403 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatitis due to substances taken internally 0.000107 0.7493 0.1935 Atypical mycobacterium lung infection 0.000199 23.057 6.198 CABP4 rs145789542 11:67455578:G:A 11 67455578 G A 11:67223049 0.891416 216 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disease of Bartholin gland 0.000442 6.6282 1.8865 CABP4 rs117175952 11:67458360:G:A 11 67458360 G A 11:67225831 0.964102 2448 LC recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and unspecified endocrine glands 0.000339 1.064 0.2969 0.0001538 -1.046 0.276 AIP rs145047094 11:67483205:G:A 11 67483205 G A 11:67250676 0.993623 967 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Presence of cardiac and vascular implants and grafts 0.00192 0.6136 0.1978 AIP rs116940576 11:67483226:G:A 11 67483226 G A 11:67250697 0.996677 3156 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial Isolated Pituitary Adenomas;Hereditary cancer-predisposing syndrome Ulcerative colitis, NAS 0.000311 0.7202 0.1997 Mental retardation 1.544e-05 14.912 3.45 AIP rs766251663 11:67490943:CAGA:C 11 67490943 CAGA C 11:67258414 0.896477 113 inframe_indel dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Sicca syndrome [Sjogren] 0.000171 6.9498 1.849 PITPNM1 rs144939807 11:67494940:C:T 11 67494940 C T 11:67262411 0.975708 3408 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Guillain-Barre syndrome 0.000609 2.3127 0.6748 Other nutritional anaemias 8.3e-05 101.27 25.732 PITPNM1 rs78790481 11:67497973:A:G 11 67497973 A G 11:67265444 0.967136 0.00604266 14 2206 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Granuloma annulare 3.73e-05 4.2536 1.0315 Cardiomyopathy, Hypertrophic obstructive 0.0009853 83.797 25.434 CABP2 rs149712664 11:67519792:C:A 11 67519792 C A 11:67287263 0.994617 1551 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of muscle and tendon at forearm level 0.000775 3.2529 0.9677 Other specified/unspecified hearing loss 0 73.217 0 CABP2 rs2276118 11:67521123:C:T 11 67521123 C T 11:67288594 0.999527 90588 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Use of antiglaucoma preparations and miotics 0.000131 -0.1761 0.046 Injury of muscle and tendon at hip and thigh level 0.00099 -0.128 0.039 CABP2 rs149431491 11:67522571:C:T 11 67522571 C T 11:67290042 0.968151 1863 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Dementia in other diseases classified elsewhere 0.00118 1.633 0.5033 Perforation of tympanic membrane 0.0004131 14.786 4.187 GSTP1 rs1695 11:67585218:A:G 11 67585218 A G 11:67352689 0.999692 74171 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Diffuse brain injury 0.00149 0.2273 0.0716 Polyarteritis nodosa and related conditions 0.001146 0.571 0.176 NDUFV1 rs201289242 11:67610465:C:T 11 67610465 C T 11:67377936 0.986789 1892 missense_variant recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter not provided Asthma (mode) 0.000753 -0.3141 0.0932 Thyrotoxicosis with diffuse goitr 0.001426 8.182 2.565 UNC93B1 rs535779712 11:67991616:G:T 11 67991616 G T 11:67759087 0.971113 988 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at ankle and foot level 0.000615 4.1316 1.2064 Benign neoplasm: Connective and other soft tissue of head, face and neck 0.0003222 228.557 63.545 UNC93B1 rs567070908 11:67991620:C:G 11 67991620 C G 11:67759091 0.938432 1507 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paranoid personality disorder 0.000327 2.9455 0.8198 Post-traumatic wound infection, not elsewhere classified 0.001144 75.381 23.176 UNC93B1 rs11543208 11:67995811:G:A 11 67995811 G A 11:67763282 0.959883 6767 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Herpes simplex encephalitis 1 Von Willebrand disease 0.000374 2.0047 0.5634 Benign neoplasm: Colon, unspecified 0.00131 2.059 0.641 NDUFS8 rs150278938 11:68032155:C:T 11 68032155 C T 11:67799622 0.978773 389 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm, without specification of site (other cancers excluded from controls) 0.000295 6.1845 1.7085 TCIRG1 rs36027301 11:68041801:C:T 11 68041801 C T 11:67809268 0.993702 24688 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteopetrosis;not specified Benign neoplasm: Lip 0.00021 0.667 0.1799 Other maternal disorders predominantly related to pregnancy 0.0007283 0.279 0.083 TCIRG1 rs35354504 11:68042858:C:T 11 68042858 C T 11:67810325 0.96057 0.00421353 20 1528 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructed labour due to malposition and malpresentation of fetus 4.78e-05 0.9249 0.2275 Arthropathies 0.0003438 1.277 0.357 TCIRG1 rs186758849 11:68043007:G:A 11 68043007 G A 11:67810474 0.965207 1004 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Mental retardation (more controls excluded) 0.000434 3.1198 0.8867 Muscle strain 0.0009477 87.756 26.548 TCIRG1 rs140963213 11:68047516:G:A 11 68047516 G A 11:67814983 0.995228 563 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Bronchus and lung (other cancers excluded from controls) 0.00101 9.7535 2.9677 TCIRG1 rs777785526 11:68047564:C:T 11 68047564 C T 11:67815031 0.929135 160 pLoF recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Gestational [pregnancy-induced] hypertension 0.000834 3.1561 0.9446 TCIRG1 rs35089741 11:68048996:G:C 11 68048996 G C 11:67816463 0.894223 0.000391956 0 144 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter conjunctival degenerations and deposits 2.72e-05 19.1346 4.5605 TCIRG1 rs150788130 11:68050771:C:T 11 68050771 C T 11:67818238 0.988097 278 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dermatitis due to substances taken internally 0.000324 4.7044 1.3084 LRP5 rs41494349 11:68348021:A:G 11 68348021 A G 11:68115489 0.958898 0.00169303 2 620 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson's disease, strict definition (more controls excluded) 3.61e-05 2.2689 0.5492 LRP5 rs4988321 11:68406721:G:A 11 68406721 G A 11:68174189 0.966026 0.0144507 102 5207 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteoporosis with pseudoglioma;not provided;not specified Type 2 diabetes, definitions combined 6.6e-05 0.1998 0.0501 Other congenital malformations of ear 0.0002191 22.038 5.963 LRP5 rs61889560 11:68423568:G:A 11 68423568 G A 11:68191036 0.995995 0.00161682 2 592 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Parkinson's disease, strict definition (more controls excluded) 4.43e-05 2.2677 0.5553 LRP5 rs3736228 11:68433827:C:T 11 68433827 C T 11:68201295 0.998997 0.0513245 1058 17798 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Fracture of shoulder and upper arm 2.39e-05 0.2086 0.0494 Arthropathies in other diseases classified elsewhere 0.0007664 1.944 0.578 LRP5 rs201475647 11:68446458:C:T 11 68446458 C T 11:68213926 0.958728 1064 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.000247 1.3139 0.3584 Other disorders of binocular movement 0.0006281 118.949 34.789 LRP5 rs200624778 11:68446512:C:T 11 68446512 C T 11:68213980 0.997339 399 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cleft lip and cleft palate 0.00105 9.6799 2.9539 LRP5 rs1127291 11:68446521:C:T 11 68446521 C T 11:68213989 0.999668 2461 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl not specified Suggestive for eosinophilic asthma 0.000554 1.0749 0.3113 Cauda equina syndrome 0.0008404 100.137 29.989 GAL rs34725707 11:68684970:C:T 11 68684970 C T 11:68452438 0.986251 3304 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy, familial temporal lobe, 8 Intussusception 0.00108 2.3274 0.7121 Diffuse large B-cell lymphoma (other cancers excluded from controls) 0.0006568 112.231 32.941 GAL rs145825008 11:68688878:A:G 11 68688878 A G 11:68456346 0.97953 260 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mood disorders (more controls excluded) 0.000203 0.924 0.2487 CPT1A rs769217114 11:68759631:T:C 11 68759631 T C 11:68527099 0.936187 0.00188629 2 691 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other medical care 8.83e-05 1.4383 0.3669 CPT1A rs189174414 11:68780734:T:G 11 68780734 T G 11:68548202 0.99223 587 missense_variant recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Finngen Rheumatological endpoints 0.000641 0.393 0.1151 CPT1A rs140958507 11:68794820:C:T 11 68794820 C T 11:68562288 0.959511 0.00897961 40 3259 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carnitine palmitoyl transferase 1 deficiency;not specified Haemorrhage in early pregnancy 8.7e-05 0.6782 0.1728 0.0002878 17.324 4.778 CPT1A rs2229738 11:68794860:C:T 11 68794860 C T 11:68562328 0.973167 48029 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified and unspecified disorders of eye and adnexa 0.000447 0.3128 0.0891 AION (anterior ischemic optic neuropathy) 0.00046 0.982 0.28 IGHMBP2 rs117061430 11:68906133:C:G 11 68906133 C G 11:68673601 0.994689 6077 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease, axonal, type 2S;Spinal muscular atrophy;Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy, distal, autosomal recessive, 1;not provided;not specified COPD-related respiratory insufficiency 0.00147 -0.2603 0.0818 Other abnormal findings of blood chemistry 0.0006544 13.221 3.879 IGHMBP2 rs201692151 11:68906147:G:C 11 68906147 G C 11:68673615 0.993688 1121 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease, axonal, type 2S;Spinal muscular atrophy, distal, autosomal recessive, 1;not provided Obsessive-compulsive disorder 0.000616 1.845 0.5388 Chronic hepatitis, not elsewhere classified 0.0003631 204.418 57.332 IGHMBP2 rs118015540 11:68906247:G:A 11 68906247 G A 11:68673715 0.929343 1903 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease, axonal, type 2S;Spinal muscular atrophy;Spinal muscular atrophy, distal, autosomal recessive, 1;Spinal muscular atrophy, distal, autosomal recessive, 1;not specified Glaucoma, exfoliation 0.000337 1.2141 0.3387 Premature separation of placenta [abruptio placentae] 0.001815 48.51 15.554 IGHMBP2 rs560096 11:68911494:T:C 11 68911494 T C 11:68678962 0.997837 0.760177 212372 66908 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dry age-related macular degeneration (includes geographic atrophy) 5.05e-05 0.1659 0.0409 Dry age-related macular degeneration (includes geographic atrophy) 0.0005336 0.087 0.025 IGHMBP2 rs10896380 11:68914934:A:G 11 68914934 A G 11:68682402 0.997644 0.13973 7342 43993 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins 6.7e-05 -0.0838 0.021 Other specified congenital malformation syndromes affecting multiple systems 0.0006791 1.138 0.335 IGHMBP2 rs35193202 11:68929315:C:T 11 68929315 C T 11:68696783 0.99316 1533 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease, axonal, type 2S;Spinal muscular atrophy;Spinal muscular atrophy, distal, autosomal recessive, 1;not provided;not specified Other abnormalities of plasma proteins 0.000238 5.1179 1.3927 Other disorders of binocular movement 0.0006504 124.127 36.404 IGHMBP2 rs622082 11:68936491:A:G 11 68936491 A G 11:68703959 0.998858 85903 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of lens 0.000607 0.0434 0.0127 0.0009738 -0.042 0.013 IGHMBP2 rs2236654 11:68936560:C:T 11 68936560 C T 11:68704028 0.998276 0.139724 7340 43993 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins 6.22e-05 -0.0841 0.021 Other specified congenital malformation syndromes affecting multiple systems 0.0006715 1.139 0.335 IGHMBP2 rs141594765 11:68936840:C:T 11 68936840 C T 11:68704308 0.938414 278 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specified/unspecified hearing loss 0.00188 3.6913 1.1874 IGHMBP2 rs17612126 11:68938206:C:A 11 68938206 C A 11:68705674 0.999932 0.243497 22080 67378 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other congenital malformations of the digestive system 6.6e-05 -0.3342 0.0838 Acute nasopharyngitis(common cold) 0.0002628 0.181 0.05 TPCN2 rs35264875 11:69078931:A:T 11 69078931 A T 11:68846399 0.998593 75086 missense_variant unknown association association no assertion criteria provided no_Criteria Type 2 diabetes 0.000113 -0.0481 0.0125 Statin medication 0.0001829 -0.046 0.012 TPCN2 rs78034812 11:69086561:C:T 11 69086561 C T 11:68854029 0.997114 6086 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteopathies and chondropathies 0.000305 0.2461 0.0682 Benign neoplasm: Bronchus and lung (other cancers excluded from controls) 0.005605 19.802 7.149 TPCN2 rs3829241 11:69087895:G:A 11 69087895 G A 11:68855363 0.989055 0.374522 51508 86087 missense_variant unknown association association no assertion criteria provided no_Criteria Other cataract 7.08e-05 -0.0813 0.0205 Acohol-induced acute pancreatitis 0.001396 0.254 0.079 ANO1 rs201870990 11:70161248:G:A 11 70161248 G A 11:70007354 0.927256 916 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteomyelitis 0.00109 2.1447 0.6564 General examination and investigation of persons without complaint and reported diagnosis 0 3.15 0 CTTN rs141314124 11:70425393:T:G 11 70425393 T G 11:70271499 0.969305 1842 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Excessive vomiting in pregnancy 0.00127 1.3562 0.4207 False labour 0.0004342 3.261 0.927 SHANK2 rs140134890 11:70473268:C:T 11 70473268 C T 11:70319373 0.998769 0.0161791 98 5846 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other localized connective tissue disorders 1.56e-05 2.1837 0.5055 Convulsions, not elsewhere classified 0.000758 2.371 0.704 SHANK2 rs150857128 11:70473428:A:G 11 70473428 A G 11:70319533 0.958289 3905 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autism 17;not specified Other symptoms and signs involving the nervous and musculoskeletal systems 0.000435 0.3667 0.1042 Granulomatous disorders of skin and subcutaneous tissue 0.0002539 18.997 5.193 SHANK2 rs756656381 11:70486126:G:GAATGGC 11 70486126 G GAATGGC 11:70332231 0.986486 1412 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other disorders of thyroid 0.000485 4.3399 1.2438 Hyperhidrosis 0.0003291 223.999 62.374 SHANK2 rs62622853 11:70487393:T:C 11 70487393 T C 11:70333498 0.96876 5429 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Small cell lung cancer (other cancers excluded from controls) 0.000206 2.053 0.5532 Post-traumatic stress disorder 0.001348 4.134 1.29 SHANK2 rs117843717 11:70490374:C:T 11 70490374 C T 11:70336479 0.99249 7646 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autism 17;Autistic disorder of childhood onset;not specified Other/unspecified disorders of vestibular function 0.00051 0.991 0.2852 Disorders of lacrimal system 0.000809 1.206 0.36 SHANK2 rs146580493 11:70798514:C:T 11 70798514 C T 11:70644619 0.955525 4006 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Autistic disorder of childhood onset Invasive ventilation 0.000632 1.184 0.3464 Vascular dementia 0.001179 9.937 3.063 SHANK2 rs11237599 11:70820660:C:T 11 70820660 C T 11:70666765 0.992644 0.225476 18492 64345 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of the musculoskeletal system and connective tissue 4.85e-05 0.1827 0.045 Atherosclerosis, excluding cerebral, coronary and PAD 3.141e-05 0.149 0.036 DHCR7 rs760241 11:71435645:A:G 11 71435645 A G 11:71146691 0.997744 20662 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Helminthiases 0.000283 -0.8251 0.2273 Helminthiases 0.0004164 -0.414 0.117 DHCR7 rs148081697 11:71435785:C:T 11 71435785 C T 11:71146831 0.833245 2588 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter History of neurodevelopmental disorder;Smith-Lemli-Opitz syndrome Disorders of continuity of bone 0.000908 1.104 0.3328 Other diseases of blood and blood-forming organs 0.001531 7.288 2.3 DHCR7 rs72954276 11:71435791:C:T 11 71435791 C T 11:71146837 0.846039 115 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormalities of heart beat 0.000587 2.66 0.7739 DHCR7 rs138659167 11:71435840:C:G 11 71435840 C G 11:71146886 0.951653 0.0018509 0 680 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the wrist and hand 6.22e-05 0.5708 0.1425 DHCR7 rs140748737 11:71444219:C:T 11 71444219 C T 11:71155265 0.992123 7024 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Smith-Lemli-Opitz syndrome;not provided;not specified Abnormal findings on examination of urine, without diagnosis 0.000917 0.8332 0.2514 Other obstructive and reflux uropathy 0.0001181 3.791 0.985 NADSYN1 rs147585323 11:71482013:G:A 11 71482013 G A 11:71193059 0.989823 2246 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contusion of ankle 0.000753 1.8807 0.5581 Disorders of synovium and tendon in diseases classified elsewhere 0.001781 51.15 16.37 NUMA1 rs35681270 11:72004687:G:A 11 72004687 G A 11:71715733 0.970345 223 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alergic contact dermatitis 0.00104 2.6103 0.796 NUMA1 rs35586429 11:72006221:A:G 11 72006221 A G 11:71717267 0.992377 1714 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Leiomyoma of uterus (other cancers excluded from controls) 0.000432 -0.3763 0.1069 Urticaria and erythema 0.0002433 6.548 1.784 NUMA1 rs61744204 11:72007269:C:T 11 72007269 C T 11:71718315 0.992845 0.00863937 22 3152 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melignant neoplasm of mesothelium and soft tissue (other cancers excluded from controls) 6.65e-06 2.0492 0.4549 Hypoglycaemia, other or unspecified 0.0001908 21.187 5.679 NUMA1 rs149184541 11:72014588:C:T 11 72014588 C T 11:71725634 0.933478 2564 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other heart diseases 0.000166 -0.2325 0.0617 Pyothorax 9.151e-05 36.593 9.354 NUMA1 rs145185561 11:72016073:T:C 11 72016073 T C 11:71727119 0.951336 3049 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other ulcerative colitis 0.000157 1.2954 0.3427 3.182e-05 49.7 11.947 NUMA1 rs149868280 11:72022387:C:T 11 72022387 C T 11:71733433 0.978544 903 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of binocular vision 0.000262 6.4387 1.7641 LRTOMT rs149637884 11:72095011:G:C 11 72095011 G C 11:71806057 0.978824 4497 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Bacterial pneumonia, not elsewhere classified 0.00131 -0.285 0.0887 Other pleural conditions 0.001155 9.905 3.048 LRTOMT rs12272086 11:72104998:G:C 11 72104998 G C 11:71816044 0.996544 11429 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not provided;not specified Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.000194 0.3934 0.1055 Pneumonia (excl. viral and due to other infectious organisms not elsewhere classified) 0.003428 -0.342 0.117 LRTOMT rs61741195 11:72108672:G:A 11 72108672 G A 11:71819718 0.970505 965 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Injuries to the knee and lower leg 0.000478 0.3543 0.1014 Disorders of puberty 0.0006195 110.135 32.176 FOLR1 rs76191655 11:72195394:C:T 11 72195394 C T 11:71906438 0.992031 5256 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cerebral folate deficiency;History of neurodevelopmental disorder;not provided;not specified Chronic lower respiratory diseases 0.000666 -0.1494 0.0439 Injuries involving multiple body regions 0.0011 10.571 3.239 FOLR1 rs144637717 11:72195749:T:C 11 72195749 T C 11:71906793 0.967657 207 pLoF recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Psoriasis (vulgaris), strict definition 0.000941 10.005 3.0249 INPPL1 rs17847215 11:72229989:G:C 11 72229989 G C 11:71941033 0.975273 264 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified lump in breast 0.000678 2.8486 0.8382 INPPL1 rs141305290 11:72232330:C:T 11 72232330 C T 11:71943374 0.980743 2458 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adverse effects, not elsewhere classified 0.000124 0.7579 0.1975 Malignant neoplasm of breast 0.001166 6.446 1.985 INPPL1 rs200602515 11:72237758:C:T 11 72237758 C T 11:71948802 0.993114 3523 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pruritus 0.000573 -0.8177 0.2374 Ulcerative ileocolitis 0.0002408 19.957 5.435 CLPB rs770932848 11:72372990:C:T 11 72372990 C T 11:72084034 0.988272 462 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Juvenile osteochondrosis 0.000275 4.9137 1.3506 CLPB rs143097446 11:72372993:C:T 11 72372993 C T 11:72084037 0.983169 2006 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia;not provided;not specified Amenorrhoea 0.00107 1.1262 0.3442 Benign neoplasm: Rectosigmoid junction (other cancers excluded from controls) 8.277e-05 29.168 7.41 CLPB rs557250186 11:72434331:C:T 11 72434331 C T 11:72145375 0.991949 552 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified urticaria 0.000292 1.4472 0.3995 RAB6A rs41298115 11:73677911:C:G 11 73677911 C G 11:73388956 0.946093 809 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 0.000274 1.4071 0.3867 DNAJB13 rs139317756 11:73964917:T:G 11 73964917 T G 11:73675962 0.997513 884 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectum, anus and anal canal 0.000118 1.4321 0.3719 Paroxysmal tachycardia 0.003838 25.149 8.699 DNAJB13 rs147921001 11:73968409:G:A 11 73968409 G A 11:73679454 0.953904 0.00199789 6 728 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of small intestine (other cancers excluded from controls) 2.35e-05 6.4269 1.52 Medical abortion 1.767e-06 3.857 0.807 UCP2 rs660339 11:73978059:G:A 11 73978059 G A 11:73689104 0.999721 91009 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified dorsalgia 0.000229 -0.0714 0.0194 Other symptoms and signs involving the nervous and musculoskeletal systems 0.0006237 0.064 0.019 UCP2 rs148253207 11:73978264:C:T 11 73978264 C T 11:73689309 0.998867 3586 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Inflammatory disorders of breast 0.000262 1.1727 0.3213 0.002524 -0.866 0.287 UCP2 rs201315561 11:73978300:C:T 11 73978300 C T 11:73689345 0.921964 0.000313021 2 113 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peritonsillar abscess 8.78e-05 3.6757 0.9372 C2CD3 rs142277857 11:74042061:A:G 11 74042061 A G 11:73753106 0.986257 782 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.0018 2.035 0.652 C2CD3 rs142214951 11:74057414:C:A 11 74057414 C A 11:73768459 0.971571 793 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of small intestine (other cancers excluded from controls) 0.000103 5.2673 1.3564 Medical abortion 1.54e-06 3.856 0.802 C2CD3 rs140307393 11:74085833:T:C 11 74085833 T C 11:73796878 0.95594 1076 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided COPD 0.000389 -0.7357 0.2074 Oesophageal obstruction 0.0006432 127.021 37.22 C2CD3 rs78878933 11:74085857:T:C 11 74085857 T C 11:73796902 0.989632 0.00524241 10 1916 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Age-related macular degeneration (whether dry or wet) 9.07e-05 0.8323 0.2126 0.0004047 183.889 51.99 C2CD3 rs117535770 11:74100598:C:T 11 74100598 C T 11:73811643 0.98755 0.00943417 54 3412 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Postzoster neuralgia 3.77e-06 4.2254 0.9139 Disorders of orbit 0.0005828 13.531 3.934 C2CD3 rs149910292 11:74139608:G:A 11 74139608 G A 11:73850653 0.989605 1125 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other noninflammatory disorders of cervix uteri 0.000597 1.9734 0.5748 Other prurigo 0.0005834 136.817 39.781 C2CD3 rs151308158 11:74139792:C:T 11 74139792 C T 11:73850837 0.994535 988 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of urinary organs 0.000682 1.1889 0.35 C2CD3 rs141212532 11:74168404:T:C 11 74168404 T C 11:73879449 0.97483 156 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified acne 0.00105 23.106 7.0525 KCNE3 rs17215437 11:74457316:C:T 11 74457316 C T 11:74168361 0.980952 1033 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Brugada syndrome 6;Cardiovascular phenotype;Periodic paralysis;Syncope;Ventricular fibrillation;not provided;not specified Type 1 diabetes, wide definition, subgroup 2 0.000564 4.2899 1.2441 Problems related to lifestyle 5.028e-05 37.035 9.135 SERPINH1 rs200265134 11:75566695:C:A 11 75566695 C A 11:75277740 0.893115 540 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Coronary angiopasty 0.00158 0.849 0.2687 SERPINH1 rs141721173 11:75566929:C:A 11 75566929 C A 11:75277974 0.95554 288 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative proctitis 0.00125 4.1688 1.2915 MOGAT2 rs35828061 11:75720004:C:T 11 75720004 C T 11:75431049 0.970141 109 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unknown and unspecified causes of morbidity 0.000329 8.1663 2.2739 UVRAG rs77892162 11:76140770:G:T 11 76140770 G T 11:75851814 0.983723 0.00153244 2 561 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumothorax 7.03e-05 3.7968 0.9551 EMSY rs184345272 11:76544410:T:G 11 76544410 T G 11:76255454 0.988022 1632 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other intervertebral disc disorders 0.000245 -0.361 0.0984 Right bundle-branch block 0.0007586 106.839 31.727 CAPN5 rs151286594 11:77121941:C:T 11 77121941 C T 11:76832987 0.908498 735 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other headache syndromes 0.00017 0.8283 0.2203 CAPN5 rs111264315 11:77123841:C:A 11 77123841 C A 11:76834887 0.978081 0.0118785 48 4316 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitreoretinopathy, neovascular inflammatory Female infertility, associated with anovulation 7.18e-05 0.9897 0.2493 Intestinal malabsorbtion 0.0003723 16.932 4.757 MYO7A rs1052030 11:77142737:T:C 11 77142737 T C 11:76853783 0.994435 76212 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin of other and unspecified parts of face 0.000712 0.144 0.0425 Vasomotor and allergic rhinitis 0.0002275 0.091 0.025 MYO7A rs184866544 11:77157346:A:G 11 77157346 A G 11:76868392 0.961821 131 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chlocystitis 0.000616 4.0956 1.196 MYO7A rs41298135 11:77158332:G:A 11 77158332 G A 11:76869378 0.996636 1288 missense_variant both Likely benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Problems related to lifestyle 0.000353 1.6371 0.4581 MYO7A rs199818783 11:77160214:C:T 11 77160214 C T 11:76871260 0.956807 442 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autoimmune thyroiditis 0.00113 6.0305 1.8519 MYO7A rs201928014 11:77174780:C:T 11 77174780 C T 11:76885826 0.983271 223 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Soft tissue disorders 0.000925 -0.582 0.1757 MYO7A rs140559111 11:77179894:G:A 11 77179894 G A 11:76890940 0.956127 235 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of spinal cord 0.000353 9.0499 2.533 MYO7A rs200454015 11:77180404:C:T 11 77180404 C T 11:76891450 0.995332 1036 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Sudden idiopathic hearing loss 0.000961 1.4084 0.4266 Papilloedema, unspecified 0.000397 189.462 53.489 MYO7A rs397516300 11:77184681:A:G 11 77184681 A G 11:76895726 0.941895 308 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hidradenitis suppurativa 0.00121 5.8543 1.8087 MYO7A rs199918940 11:77189376:T:A 11 77189376 T A 11:76900421 0.940302 370 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypotension 0.00143 2.1686 0.68 MYO7A rs41298747 11:77199663:C:T 11 77199663 C T 11:76910708 0.975131 2100 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;Usher syndrome, type 1;not specified Benign neoplasm: other/unspecified salivary gland (other cancers excluded from controls) 0.000508 2.229 0.6412 Other appendicitis 0.00118 9.655 2.977 MYO7A rs2276288 11:77201591:A:T 11 77201591 A T 11:76912636 0.996658 85742 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of ankle and foot 0.000236 -0.1632 0.0444 Other intervertebral disc disorders 0.000298 0.034 0.009 MYO7A rs77625410 11:77202412:A:G 11 77202412 A G 11:76913457 0.997839 2200 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;Usher syndrome, type 1;not provided;not specified Complications following infusion, transfusion and therapeutic injection 0.000565 3.479 1.009 Tibial collateral bursitis [Pellegrini-Stieda] 0.0002531 281.961 77.057 MYO7A rs111033287 11:77203118:C:T 11 77203118 C T 11:76914163 0.976 0.00336429 12 1224 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;not provided;not specified Stenosis and insufficiency of lacrimal passages 9.44e-05 1.7386 0.4453 Sequelae of cerebrovascular disease 0.001538 6.803 2.148 MYO7A rs948962 11:77208433:C:A 11 77208433 C A 11:76919478 0.990423 89909 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other intervertebral disc disorders 0.000164 0.0493 0.0131 Nausea and vomiting 0.0005313 -0.07 0.02 MYO7A rs142293185 11:77208439:G:A 11 77208439 G A 11:76919484 0.965365 1182 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Deafness, autosomal recessive 2;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;Retinitis pigmentosa-deafness syndrome;Usher syndrome, type 1;not specified Short stature, not elsewhere classified 0.000265 3.9643 1.0869 Allergic purpura 0.0005156 137.829 39.692 THRSP rs117003832 11:78064306:C:T 11 78064306 C T 11:77775352 0.980529 3222 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cystic kidney disease 0.000239 1.5584 0.4242 Unspecified lump in breast 0.00151 5.748 1.812 ALG8 rs17825668 11:78104013:A:G 11 78104013 A G 11:77815059 0.996763 5181 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1H;not specified Personality disorders (more controls excluded) 0.00037 -0.4105 0.1153 Toxic effect of carbon monoxide 0.0001173 29.413 7.636 ALG8 rs146603801 11:78104421:G:A 11 78104421 G A 11:77815467 0.980638 339 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injury of urinary and pelvic organs 0.000134 10.9653 2.8709 ALG8 rs202112771 11:78109441:C:A 11 78109441 C A 11:77820487 0.994807 1049 pLoF both Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Primary coxarthrosis, bilateral 0.00079 0.8412 0.2507 ALG8 rs61995925 11:78112745:C:T 11 78112745 C T 11:77823791 0.958001 5733 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1H;not specified Injury of muscle and tendon at hip and thigh level 0.00022 0.7798 0.211 Acidosis 0.0001543 25.167 6.651 ALG8 rs665278 11:78114274:T:C 11 78114274 T C 11:77825320 0.999909 55880 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endocrine, nutritional and metabolic diseases 0.000582 -0.036 0.0105 Loose body in joint 0.001267 0.559 0.174 NARS2 rs116930926 11:78478607:T:C 11 78478607 T C 11:78189653 0.992004 7610 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Disorders of continuity of bone 0.000169 0.6887 0.1831 Other and unspecified polyneuropathies, also in other diseases 0.001292 2.131 0.662 NARS2 rs10501429 11:78568744:T:G 11 78568744 T G 11:78279790 0.998703 74163 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of optic [2nd] nerve and visual pathways 0.000307 -0.237 0.0657 Other disorders of optic [2nd] nerve and visual pathways 0.0002537 -0.153 0.042 TENM4 rs192931562 11:78670536:G:C 11 78670536 G C 11:78381581 0.998074 0.0448028 708 15752 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic sinusitis 6.46e-05 0.1777 0.0445 0.0008574 0.923 0.277 TENM4 rs141706152 11:78738523:G:C 11 78738523 G C 11:78449568 0.95873 606 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cleft lip and cleft palate 0.000287 9.7413 2.6862 Malignant neoplasm of eye and adnexa 0.0005282 140.513 40.54 TENM4 rs76283314 11:78738538:G:A 11 78738538 G A 11:78449583 0.996989 2594 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disorders of psychological development 0.000435 3.1246 0.8882 Vascular syndromes of brain in cerebrovascular disorders 9.444e-05 17.685 4.529 TENM4 rs191549326 11:78855981:G:A 11 78855981 G A 11:78567026 0.993855 956 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic ketoacidosis 0.00012 0.988 0.2568 Other abnormalities of plasma proteins 0.0006112 124.896 36.449 TMEM126B rs141542003 11:85636171:G:T 11 85636171 G T 11:85347215 0.989341 617 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pterygium 0.00216 3.7404 1.2193 TMEM126A rs36100288 11:85654072:T:G 11 85654072 T G 11:85365116 0.881784 467 stop_lost recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Polyarthritis, unspecified 0.00166 4.0284 1.2807 TMEM126A rs140047528 11:85654130:A:G 11 85654130 A G 11:85365174 0.983748 0.00204416 2 749 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Cranial nerves (other cancers excluded from controls) 8.37e-05 5.0755 1.2903 TMEM126A rs146573578 11:85655627:G:A 11 85655627 G A 11:85366671 0.992566 747 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Delirium, not induced by alcohol and other psychoactive substances 0.00114 2.0627 0.6339 Melanocytic naevi of other and unspecified parts of face 0.0009547 88.139 26.68 SYTL2 rs117681965 11:85711173:C:G 11 85711173 C G 11:85422216 0.996335 2943 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of the nervous system 0.00183 2.0821 0.6682 Family history of certain disabilities and chronic diseases leading to disablement 0.0002162 21.372 5.777 SYTL2 rs74547795 11:85720911:G:T 11 85720911 G T 11:85431954 0.987355 0.014301 84 5170 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 5.18e-05 0.1936 0.0478 Other mental disorders due to brain damage and dysfunction and to physical disease 0.0009528 4.627 1.4 FZD4 rs104894223 11:86951990:T:C 11 86951990 T C 11:86663032 0.919234 183 missense_variant dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Unspecified maternal hypertension 0.000974 9.2022 2.7903 FZD4 rs61735303 11:86952254:G:A 11 86952254 G A 11:86663296 0.996713 1198 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Status epilepticus 0.000559 2.9927 0.8672 FZD4 rs80358282 11:86954881:G:A 11 86954881 G A 11:86665923 0.986891 97 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Toxic effect of carbon monoxide 0.000576 28.199 8.1909 FZD4 rs61735304 11:86954989:G:A 11 86954989 G A 11:86666031 0.996588 1203 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Status epilepticus 0.00057 2.9808 0.8651 CTSC rs3888798 11:88294041:T:C 11 88294041 T C 11:88027209 0.999378 0.087477 2794 29344 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Haim-Munk syndrome;Papillon-Lefèvre syndrome;not specified Alzheimer's disease, wide definition 3.26e-05 -0.1785 0.043 Dependent personality disorder 5.44e-06 1.895 0.417 CTSC rs217086 11:88312415:A:G 11 88312415 A G 11:88045583 0.999671 0.885946 288392 37094 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of skin 5.34e-05 -0.108 0.0267 Malignant neoplasm of skin 3.005e-05 -0.061 0.015 CTSC rs11600158 11:88337746:A:G 11 88337746 A G 11:88070914 0.996367 24017 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haim-Munk syndrome;Papillon-Lefèvre syndrome Endometriosis of uterus 0.00169 0.2117 0.0674 Infective dermatitis 0.0005409 0.769 0.222 TYR rs1042602 11:89178528:C:A 11 89178528 C A 11:88911696 0.998923 55623 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postzoster neuralgia 0.00032 0.621 0.1726 Other cataract 0.0001661 0.143 0.038 TYR rs61754365 11:89178603:G:A 11 89178603 G A 11:88911771 0.954904 326 missense_variant both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of wrist and hand 0.000677 2.0794 0.6118 TYR rs1126809 11:89284793:G:A 11 89284793 G A 11:89017961 0.998018 0.178944 11978 53764 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Other malignant neoplasms of skin (=non-melanoma skin cancer) 1.94e-15 0.1774 0.0223 Actinic keratosis 9.292e-06 0.228 0.052 TYR rs104894313 11:89284805:C:T 11 89284805 C T 11:89017973 0.993068 3950 missense_variant both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Albinism, ocular, with sensorineural deafness;Inborn genetic diseases;Oculocutaneous albinism;Oculocutaneous albinism type 1B;Oculocutaneous albinism type 1B;Skin/hair/eye pigmentation, variation in, 3;Tyrosinase-negative oculocutaneous albinism;Tyrosinase-negative oculocutaneous albinism;not provided Neuromuscular dysfuntion of bladder 0.00183 0.7246 0.2325 Intermittent heterotropia 0.0005687 13.363 3.878 FAT3 rs17615477 11:92800877:G:T 11 92800877 G T 11:92534043 0.992507 0.00334252 6 1222 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other enthesopathies 5.54e-05 0.8088 0.2006 Persons encountering health services in other circumstances 0.001755 46.92 14.996 FAT3 rs75081660 11:92844493:G:T 11 92844493 G T 11:92577659 0.999467 1862 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic strabismus 0.000193 1.6059 0.4307 ILD, hospital admissions 1, main diag only 7.177e-05 31.405 7.91 CEP295 rs62622500 11:93675577:G:A 11 93675577 G A 11:93408743 0.982427 2756 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified types of non-Hodgkin lymphoma (other cancers excluded from controls) 0.000388 1.625 0.458 Universal eryhrodermia, KELA reimbursement 0.0018 50.689 16.239 CEP295 rs202195781 11:93699651:G:A 11 93699651 G A 11:93432817 0.993844 1381 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of the puerperium, not elsewhere classified 0.000239 2.4915 0.6783 Enthesopathies of lower limb, excluding foot 0.0009731 9.661 2.929 MED17 rs2848477 11:93784720:G:C 11 93784720 G C 11:93517886 0.997987 0.650459 155392 83579 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain (limb, back, neck, head abdominally) 6.71e-05 -0.0294 0.0074 Gonarthrosis,primary 0.0001516 -0.035 0.009 MRE11A rs587780143 11:94476344:T:C 11 94476344 T C 11:94209510 0.968122 249 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other headache syndromes 0.00217 1.1309 0.3689 PIWIL4 rs142289424 11:94587099:A:C 11 94587099 A C 11:94320265 0.983448 0.00257766 6 941 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary heart disease, diseases of pulmonary circulation 2.71e-05 1.1255 0.2682 Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck 0.001777 51.361 16.435 CEP57 rs117321017 11:95813062:G:C 11 95813062 G C 11:95546226 0.977499 0.00775202 40 2808 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mosaic variegated aneuploidy syndrome 2 Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 8.2e-05 -0.3761 0.0955 Cardiovascular diseases (excluding rheumatic etc) 0.001453 -0.892 0.28 CEP57 rs644799 11:95831095:A:G 11 95831095 A G 11:95564259 0.997299 0.252412 23814 68919 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of sciatic nerve 5.77e-05 -0.2668 0.0663 Hypothyroidism, drug reimbursement 0.0003107 -0.121 0.034 MTMR2 rs116750638 11:95835367:A:G 11 95835367 A G 11:95568531 0.980625 0.00195434 6 712 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;not provided Other arrhytmias 8.57e-05 0.7204 0.1834 Other disorders of cornea 0.002267 41.585 13.622 MTMR2 rs61735578 11:95838183:C:G 11 95838183 C G 11:95571347 0.995736 24621 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;Charcot-Marie-Tooth disease, type 4B1 Glaucoma suspect 0.00128 0.1533 0.0476 Cystitis 0.001257 0.3 0.093 MTMR2 rs200083635 11:95847787:A:G 11 95847787 A G 11:95580951 0.910827 541 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Open wound of wrist and hand 0.00127 0.8715 0.2705 MTMR2 rs142155860 11:95858554:C:A 11 95858554 C A 11:95591718 0.998634 14024 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease type 4 Malignant neoplasm, without specification of site 0.000262 0.8031 0.22 Other inflammation of vagina/vulva 1.882e-05 3.285 0.768 MTMR2 rs3824874 11:95923947:T:G 11 95923947 T G 11:95657111 0.988863 72375 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lesion of sciatic nerve 0.000253 -0.2375 0.0649 Hypothyroidism, drug reimbursement 0.001185 -0.102 0.031 CNTN5 rs61749255 11:99845159:T:G 11 99845159 T G 11:99715891 0.985785 0.00651083 24 2368 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intussusception 2.37e-05 3.9849 0.9427 Maternal care for known or suspected disproportion 0.0001354 27.761 7.274 PGR rs11571222 11:101062708:G:C 11 101062708 G C 11:100933439 0.98988 4751 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of synovium and tendon in diseases classified elsewhere 0.000238 1.8496 0.5033 Juvenile osteochondrosis 2.64e-06 32.037 6.821 PGR rs147067970 11:101128848:G:T 11 101128848 G T 11:100999579 0.9951 394 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute mastoiditis 0.000681 11.239 3.3082 TRPC6 rs36111323 11:101489019:G:A 11 101489019 G A 11:101359750 0.997876 34256 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal segmental glomerulosclerosis;not provided;not specified Vasomotor rhinitis (mode) 0.000819 0.2882 0.0861 Short stature, not elsewhere classified 0.0001259 1.664 0.434 TRPC6 rs117273916 11:101504797:G:A 11 101504797 G A 11:101375528 0.995435 0.00332346 2 1219 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Transverse colon (other cancers excluded from controls) 3.8e-05 2.349 0.5702 TRPC6 rs3802829 11:101583461:G:A 11 101583461 G A 11:101454192 0.997407 22810 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal segmental glomerulosclerosis;Focal segmental glomerulosclerosis 2;not specified Diseases of the ear and mastoid process 0.000221 -0.0649 0.0176 Other and unspecified polyneuropathies, also in other diseases 0.003362 0.513 0.175 CEP126 rs61742172 11:101961958:A:T 11 101961958 A T 11:101832689 0.985278 2356 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of skull and facial bones 0.000733 0.6161 0.1824 Placenta praevia 0.0002755 16.777 4.612 BIRC3 rs17881197 11:102331119:G:A 11 102331119 G A 11:102201850 0.92217 0.00105066 0 386 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personality disorders 5.03e-05 1.6983 0.4189 MMP20 rs1784424 11:102606646:G:T 11 102606646 G T 11:102477377 0.998847 83770 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyshidrosis [pompholyx] 0.00164 -0.3676 0.1168 Aphakia 4e-04 -0.396 0.112 MMP20 rs1784423 11:102606664:A:G 11 102606664 A G 11:102477395 0.998856 83767 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyshidrosis [pompholyx] 0.00164 -0.3676 0.1168 Aphakia 0.0004008 -0.396 0.112 MMP20 rs17099008 11:102611773:T:G 11 102611773 T G 11:102482504 0.942506 0.000264026 0 97 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epiphora 9.03e-05 21.7202 5.5475 MMP20 rs61730849 11:102611889:G:A 11 102611889 G A 11:102482620 0.996993 0.0076622 28 2787 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Disorders of muscles 3e-05 1.1115 0.2663 Other specified disorders of muscle 5.568e-05 39.771 9.868 MMP20 rs2245803 11:102625267:T:G 11 102625267 T G 11:102495998 0.996271 0.639773 150696 84349 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atopic dermatitis 7.26e-05 -0.0852 0.0215 Other noninflammatory disorders of uterus, except cervix 9.688e-05 -0.067 0.017 MMP8 rs35231465 11:102713404:G:A 11 102713404 G A 11:102584135 0.998111 6393 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Disorders of sclera, cornea, iris and ciliary body 0.00101 0.2114 0.0643 Cholangitis (primary sclerosing, PSC), with reimbursement 202 0.0005715 14.117 4.098 MMP8 rs1940475 11:102722517:T:C 11 102722517 T C 11:102593248 0.99519 91089 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oligomenorrhoea 0.000465 -0.2352 0.0672 Benign neoplasm: Other and unspecified parts of mouth (other cancers excluded from controls) 0.0001476 -0.213 0.056 MMP8 rs112188995 11:102722535:C:T 11 102722535 C T 11:102593266 0.965043 414 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to social environment 0.00109 5.861 1.7949 Counselling related to sexual attitude, behaviour and orientation 0.0002175 318.154 86.04 MMP8 rs3765620 11:102724761:G:A 11 102724761 G A 11:102595492 0.995064 88778 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic rhinitsi, nasopharyngitis and pharyngitis 0.000574 -0.0789 0.0229 Benign neoplasm: Other and unspecified parts of mouth (other cancers excluded from controls) 8.543e-05 -0.21 0.053 MMP1 rs143788145 11:102797358:G:T 11 102797358 G T 11:102668089 0.87911 0.000590656 2 215 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the eye and adnexa 1.04e-05 -0.687 0.1558 MMP3 rs679620 11:102842889:T:C 11 102842889 T C 11:102713620 0.998659 89523 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Femoral hernia, unilateral 0.000342 0.2976 0.0831 Other symptoms and signs involving the nervous and musculoskeletal systems 0.001521 0.051 0.016 MMP13 rs185832993 11:102949108:G:A 11 102949108 G A 11:102819837 0.990456 0.00339695 6 1242 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Metaphyseal anadysplasia;Spondyloepimetaphyseal dysplasia Unspecified haematuria 1.45e-05 0.8036 0.1853 Other and unspecified urticaria 0.0002232 16.867 4.57 MMP13 rs61733406 11:102955654:G:A 11 102955654 G A 11:102826383 0.996635 4488 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Metaphyseal anadysplasia;Spondyloepimetaphyseal dysplasia Atopic dermatitis, strict definition 0.000422 0.3727 0.1057 Problems related to medical facilities and other health care 0.0009337 10.653 3.219 DYNC2H1 rs12146610 11:103117775:A:T 11 103117775 A T 11:102988504 0.995288 0.0291953 344 10382 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Jeune thoracic dystrophy;Short Rib Polydactyly Syndrome;not provided;not specified Other localized connective tissue disorders 8.56e-05 1.445 0.3678 Malignant neoplasm of bladder (other cancers excluded from controls) 0.0001331 2.738 0.717 DYNC2H1 rs182506343 11:103120454:C:T 11 103120454 C T 11:102991183 0.913365 74 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified abdominal hernia 0.00272 12.9796 4.3307 DYNC2H1 rs17301182 11:103120468:C:T 11 103120468 C T 11:102991197 0.996647 51142 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Premature rupture of membranes 0.00032 -0.1546 0.043 Problems related to life-management difficulty 0.001078 0.301 0.092 DYNC2H1 rs142881106 11:103120939:C:A 11 103120939 C A 11:102991668 0.966251 1204 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Jeune thoracic dystrophy;Short Rib Polydactyly Syndrome;not provided;not specified Dry age-related macular degeneration (includes geographic atrophy) 0.00298 0.9552 0.3216 Fracture of lumbar spine and pelvis 0.0003528 19.213 5.377 DYNC2H1 rs202233363 11:103121495:A:C 11 103121495 A C 11:102992224 0.982293 1430 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Dislocation, sprain and strain of joints and ligaments of thorax 0.00155 2.7445 0.8669 Colon adenocarcinoma 0.000331 15.254 4.249 DYNC2H1 rs61898615 11:103148531:G:A 11 103148531 G A 11:103019260 0.998234 5198 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Jeune thoracic dystrophy;Short Rib Polydactyly Syndrome;not provided;not specified Non-allergic asthma (mode) (more controls excluded) 0.000388 -0.4045 0.114 Intermittent heterotropia 0.000209 7.525 2.029 DYNC2H1 rs200635842 11:103156437:G:A 11 103156437 G A 11:103027166 0.994285 229 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified necrotizing vasculopathies 0.000303 15.5241 4.2971 DYNC2H1 rs17301750 11:103156505:A:G 11 103156505 A G 11:103027234 0.998986 51665 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Premature rupture of membranes 0.000326 -0.1535 0.0427 Problems related to life-management difficulty 0.0004989 0.319 0.092 DYNC2H1 rs688906 11:103158787:A:G 11 103158787 A G 11:103029516 0.99967 68225 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Meniere disease 0.000367 0.1721 0.0483 Malignant neoplasm of digestive organs (other cancers excluded from controls) 0.000253 -0.058 0.016 DYNC2H1 rs72989738 11:103166014:C:G 11 103166014 C G 11:103036743 0.993065 7290 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Jeune thoracic dystrophy;not specified Sarcoidosis 0.000647 0.4388 0.1286 Iron deficiency anaemia 0.0007653 1.125 0.334 DYNC2H1 rs589623 11:103211861:G:A 11 103211861 G A 11:103082590 0.999204 58930 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Premature rupture of membranes 0.000113 0.1537 0.0398 Premature rupture of membranes 0.0002532 0.086 0.023 DYNC2H1 rs199568537 11:103219963:G:A 11 103219963 G A 11:103090692 0.958448 310 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative enterocolitis 0.00219 4.9083 1.6028 DYNC2H1 rs140830294 11:103236469:A:G 11 103236469 A G 11:103107198 0.883266 75 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hydronephrosis 0.000445 7.7431 2.2046 DYNC2H1 rs775615484 11:103253441:G:A 11 103253441 G A 11:103124170 0.981544 0.000449116 0 165 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Crushing injury of wrist and hand 8.01e-05 22.9514 5.8191 DYNC2H1 rs116872934 11:103283029:G:C 11 103283029 G C 11:103153758 0.961069 424 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Use of disulfiram, acamprosate or naltrexone 0.000647 2.5519 0.7481 DYNC2H1 rs10895391 11:103287549:C:T 11 103287549 C T 11:103158278 0.992319 83025 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Femoral hernia, unilateral 0.000148 0.3296 0.0868 Femoral hernia, unilateral 0.0005624 0.317 0.092 DYNC2H1 rs144717489 11:103479194:G:C 11 103479194 G C 11:103349922 0.995743 6200 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Jeune thoracic dystrophy;Short Rib Polydactyly Syndrome;not specified Carcinoma in situ of skin of lower limb, including hip 0.000658 1.8408 0.5404 Endometriosis of intestine 0.0002027 22.358 6.017 CASP1 rs147322917 11:105034301:C:T 11 105034301 C T 11:104905028 0.977531 0.0442829 806 15463 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic ileus 3.7e-05 0.7586 0.1839 Injury of nerves at lower leg level 0.0005408 6.109 1.766 ACAT1 rs3741056 11:108121619:G:C 11 108121619 G C 11:107992346 0.988822 79694 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fourth [trochlear] nerve palsy 0.00038 0.3907 0.11 5.677e-05 0.292 0.073 ACAT1 rs35188041 11:108138933:C:A 11 108138933 C A 11:108009660 0.993229 51113 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormal findings in urine 0.000116 0.6663 0.1728 Cholelithiasis 0.0006041 0.096 0.028 NPAT rs781543382 11:108172808:TAGA:T 11 108172808 TAGA T 11:108043535 0.993525 0.00507638 14 1851 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Leiomyoma of uterus (other cancers excluded from controls) 1.94e-08 0.5755 0.1024 Superficial injury of head 0.0006366 12.48 3.654 NPAT rs187990506 11:108189274:T:C 11 108189274 T C 11:108060001 0.996855 8213 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypersensitivity pneumonitis due to organic dust 0.000419 1.2688 0.3597 Fever of other and unknown origin 0.0004563 0.995 0.284 ATM rs1800054 11:108227849:C:G 11 108227849 C G 11:108098576 0.985873 1286 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of nerves at lower leg level 0.00203 5.0412 1.6339 ATM rs28904919 11:108247060:C:T 11 108247060 C T 11:108117787 0.998991 1305 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Pruritus 0.000883 1.3488 0.4056 Contact with and exposure to communicable diseases 0.002606 34.405 11.427 ATM rs4986761 11:108254034:T:C 11 108254034 T C 11:108124761 0.965778 2146 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.000166 0.3271 0.0869 Tarsal tunnel syndrome 0.001801 52.936 16.96 ATM rs1800056 11:108267276:T:C 11 108267276 T C 11:108138003 0.99616 0.00505732 14 1844 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Leiomyoma of uterus (other cancers excluded from controls) 2.12e-08 0.5749 0.1026 Superficial injury of head 0.0006347 12.491 3.656 ATM rs1800057 11:108272729:C:G 11 108272729 C G 11:108143456 0.996379 0.00906671 36 3295 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Leiomyoma of uterus (other cancers excluded from controls) 2.13e-10 0.4885 0.0769 Benign neoplasm: Colon, unspecified 0.002535 3.228 1.069 ATM rs755237639 11:108272780:A:G 11 108272780 A G 11:108143507 0.97523 194 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of other and unspecified intrathoracic organs 0.000169 7.1002 1.8874 ATM rs1800058 11:108289623:C:T 11 108289623 C T 11:108160350 0.96797 0.0106863 64 3862 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Spontaneous rupture of synovium and tendon 8.94e-05 1.0174 0.2597 Disorders of vitreous body 0.0006162 2.768 0.808 ATM rs34640941 11:108289789:A:G 11 108289789 A G 11:108160516 0.933903 0.00105338 0 387 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Obesity due to excess calories 3.38e-05 1.5667 0.3779 ATM rs1800059 11:108299779:A:C 11 108299779 A C 11:108170506 0.985199 1017 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Benign neoplasm: Bronchus and lung (other cancers excluded from controls) 0.000103 8.1414 2.0968 Pneumococcal septichemia 0.001062 81.018 24.749 ATM rs1801516 11:108304735:G:A 11 108304735 G A 11:108175462 0.999862 0.227209 19442 64032 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leiomyoma of uterus (other cancers excluded from controls) 2.89e-11 -0.1151 0.0173 Leiomyoma of uterus 8.023e-07 -0.11 0.022 ATM rs1801673 11:108304736:A:T 11 108304736 A T 11:108175463 0.941134 1558 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ataxia-telangiectasia syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Other and unspecified vasculitis limited to skin 0.000838 3.328 0.9964 Hyperaldosteronism 0.0006218 106.913 31.243 ATM rs3092910 11:108310190:T:C 11 108310190 T C 11:108180917 0.994655 397 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified disorders of skin and subcutaneous tissue 0.00198 2.2854 0.7388 ATM rs11212587 11:108315883:G:A 11 108315883 G A 11:108186610 0.966907 398 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other congenital malformations 0.000267 3.2837 0.9007 EXPH5 rs146199863 11:108509554:T:C 11 108509554 T C 11:108380281 0.978204 699 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected abnormality of pelvic organs 0.00102 1.1204 0.341 EXPH5 rs143096226 11:108509893:T:C 11 108509893 T C 11:108380620 0.995319 0.0335721 472 11862 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyarthropathies 8.09e-05 0.1619 0.0411 Otherdisorders of bone 0.0003123 1.16 0.322 EXPH5 rs34012545 11:108512066:C:A 11 108512066 C A 11:108382793 0.950997 557 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 2 0.000678 5.71 1.6803 DDX10 rs149622934 11:108665284:C:G 11 108665284 C G 11:108536011 0.972816 676 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes, insuline treatment (Kela reimbursement) (more controls excluded) 0.000675 0.4709 0.1385 DDX10 rs116953461 11:108715890:A:G 11 108715890 A G 11:108586617 0.917669 0.00769486 30 2797 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diabetes mellitus in pregnancy 8.61e-05 0.5299 0.1349 Benign neoplasm of male genital organs (other cancers excluded from controls) 0.002788 32.2 10.768 RDX rs74983220 11:110233337:G:A 11 110233337 G A 11:110104062 0.994847 0.00348405 12 1268 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Benign lipomatous neoplasm of other sites/unspecified (other cancers excluded from controls) 9.08e-05 1.5445 0.3946 Contracture of joint 0.0006674 120.63 35.452 PPP2R1B rs1805076 11:111764842:C:T 11 111764842 C T 11:111635566 0.997308 1612 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Lung cancer Disorders of the thyroid gland 0.00154 0.2633 0.0832 Enteropathic arthropathies 0.0008154 82.68 24.699 ALG9 rs185149177 11:111836229:G:A 11 111836229 G A 11:111706952 0.93317 209 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on examination of urine, without diagnosis 0.000407 7.867 2.2252 ALG9 rs10502151 11:111853410:C:T 11 111853410 C T 11:111724133 0.999849 86869 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of the thyroid gland 0.000367 0.0402 0.0113 Senile cataract 0.001164 -0.042 0.013 CRYAB rs11603779 11:111910323:A:C 11 111910323 A C 11:111781047 0.998281 66729 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Medication related adverse effects (Asthma/COPD) 0.000181 0.0465 0.0124 Parkinson's disease 4.006e-05 0.228 0.055 HSPB2 rs4252589 11:111913677:G:A 11 111913677 G A 11:111784401 0.99633 8839 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of other B group vitamins 0.00134 1.0324 0.3219 Post-traumatic stress disorder 0.0001468 5.204 1.371 DIXDC1 rs199945833 11:111937554:A:G 11 111937554 A G 11:111808278 0.961701 245 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins of other sites 0.00147 3.8954 1.2249 DLAT rs61757217 11:112025527:G:C 11 112025527 G C 11:111896251 0.995792 1525 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pyruvate dehydrogenase E2 deficiency;Pyruvate dehydrogenase complex deficiency;not provided;not specified Other appendicitis 0.000807 1.2027 0.359 Disorders of eyelid in diseases classified elsewhere 0.00171 51.483 16.415 DLAT rs2303436 11:112025600:C:T 11 112025600 C T 11:111896324 0.999095 89418 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of the thyroid gland 0.000153 0.0421 0.0111 Disorders of the thyroid gland 0.0001388 0.039 0.01 DLAT rs11553595 11:112028911:A:G 11 112028911 A G 11:111899635 0.995814 1533 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pyruvate dehydrogenase complex deficiency;not provided;not specified Other appendicitis 0.00085 1.1931 0.3577 Disorders of eyelid in diseases classified elsewhere 0.00171 51.483 16.415 DLAT rs627441 11:112037438:T:C 11 112037438 T C 11:111908162 0.9991 89655 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of the thyroid gland 0.000214 0.0411 0.0111 Disorders of the thyroid gland 0.0004543 0.035 0.01 DLAT rs10891314 11:112045923:G:A 11 112045923 G A 11:111916647 0.999142 89438 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of the thyroid gland 0.00013 0.0425 0.0111 Disorders of the thyroid gland 0.0001273 0.039 0.01 DLAT rs143152014 11:112060024:A:G 11 112060024 A G 11:111930748 0.986467 804 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations 0.00097 1.8116 0.5491 Macular cyst 0.001679 51.563 16.412 SDHD rs34677591 11:112086941:G:A 11 112086941 G A 11:111957665 0.99905 1712 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cowden syndrome 3;Cowden syndrome 3;Hereditary cancer-predisposing syndrome;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1;Paragangliomas 1;Pheochromocytoma;Pheochromocytoma;not provided;not specified Hydronephrosis 0.000716 1.1308 0.3342 Complications of cardiac and vascular prosthetic devices, implants and grafts 0.001842 48.157 15.462 SDHD rs11214077 11:112087953:A:G 11 112087953 A G 11:111958677 0.993392 2357 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoid tumor of intestine;Cowden syndrome 3;Hereditary cancer-predisposing syndrome;Paraganglioma and gastric stromal sarcoma;Paragangliomas 1;Paragangliomas 1;Pheochromocytoma;Pheochromocytoma;not provided;not specified Other congenital malformations of ear 0.000992 3.0941 0.9397 Melignant neoplasm of mesothelium and soft tissue 0.000158 24.804 6.565 PTS rs200712908 11:112233434:C:T 11 112233434 C T 11:112104157 0.914095 0.000302133 0 111 missense_variant recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Disorders of gallbladder, biliary tract and pancreas 1.18e-05 1.6424 0.3748 ANKK1 rs138608171 11:113397225:C:A 11 113397225 C A 11:113267947 0.943181 615 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chrondropathies 0.00185 1.2803 0.4113 Hypertrophy of breast 0 12.377 0 ANKK1 rs139270089 11:113399002:G:A 11 113399002 G A 11:113269724 0.97722 289 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Speech and linguistic disorders (more controls excluded) 0.000447 5.4752 1.5596 ANKK1 rs1800497 11:113400106:G:A 11 113400106 G A 11:113270828 0.999747 60278 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Secondary polycythaemia 0.000492 0.505 0.1449 Abnormalities of breathing 0.0002868 0.073 0.02 DRD2 rs71653614 11:113412715:T:C 11 113412715 T C 11:113283437 0.995451 7732 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dystonia Special screening examination for infectious and parasitic diseases 0.000488 -0.2576 0.0739 1.702e-05 18.738 4.357 DRD2 rs1801028 11:113412762:G:C 11 113412762 G C 11:113283484 0.996743 8009 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dystonia;not specified Follow-up examination after treatment for conditions other than malignant neoplasms 0.000448 -0.1882 0.0536 Hypermobility syndrome 0.0007077 5.455 1.611 TMPRSS5 rs7110736 11:113690332:A:G 11 113690332 A G 11:113561054 0.998905 85240 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Substance abuse (more controls excluded) 0.000531 0.063 0.0182 Benign neoplasm: Rectum, anus and anal canal 0.000107 -0.094 0.024 TMPRSS5 rs117055692 11:113690928:C:A 11 113690928 C A 11:113561650 0.933484 105 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings in secretions and smears from cervix uteri vagina vulva 0.000233 2.3997 0.652 TMPRSS5 rs11601425 11:113699663:C:T 11 113699663 C T 11:113570385 0.99881 33642 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sarcoidosis 0.000106 0.2398 0.0618 Urticaria 0.001248 0.262 0.081 HTR3B rs78418698 11:113944632:T:G 11 113944632 T G 11:113815354 0.974302 141 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coronary atherosclerosis 0.00264 1.0892 0.3623 BUD13 rs35004487 11:116760826:G:C 11 116760826 G C 11:116631542 0.987484 4708 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of uterus and cervix 0.000119 2.0936 0.5441 Diseases of the musculoskeletal system and connective tissue 0.0001459 0.672 0.177 APOA5 rs201201147 11:116790267:T:A 11 116790267 T A 11:116660983 0.987656 0.00654349 28 2376 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Congenital malformations of aortic and mitral valves 6.46e-05 2.3621 0.5912 Aortic aneurysm 0.0004634 13.809 3.944 APOA5 rs143292359 11:116790285:G:A 11 116790285 G A 11:116661001 0.948356 115 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma and opportunit respiratory infection 0.000413 11.7976 3.3406 APOA5 rs2075291 11:116790676:C:A 11 116790676 C A 11:116661392 0.991513 0.000547106 0 201 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Stenosis and insufficiency of lacrimal passages 9.6e-05 4.8884 1.2533 APOA5 rs3135507 11:116790772:C:T 11 116790772 C T 11:116661488 0.996377 15981 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Disorders of lipoprotein metabolism and other lipidaemias 0.000267 0.1305 0.0358 Bacterial pneumonia, not elsewhere classified 0.0007262 0.529 0.157 APOA5 rs3135506 11:116791691:G:C 11 116791691 G C 11:116662407 0.999267 0.0648824 1590 22247 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Hypertriglyceridemia, susceptibility to Statin medication 3.77e-29 0.221 0.0197 Disorders of lipoprotein metabolism and other lipidaemias 1.189e-07 0.448 0.085 APOA4 rs5110 11:116820918:C:A 11 116820918 C A 11:116691634 0.978766 16571 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2 Persons encountering health services for specific procedures and health care 0.000266 0.096 0.0263 Guttate psoriasis 8.848e-05 6.067 1.548 APOC3 rs138326449 11:116830638:G:A 11 116830638 G A 11:116701354 0.988087 486 pLoF unknown Pathogenic, protective protective no assertion criteria provided no_Criteria Injuries to the wrist and hand 0.000177 0.6481 0.1728 PCSK7 rs201598301 11:117206025:G:A 11 117206025 G A 11:117076741 0.988352 6697 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninfective gastroenteritis and colitis 0.000377 0.3631 0.1021 Eosinophilic disease (BM) 0.0002205 22.209 6.012 CEP164 rs490262 11:117351876:G:A 11 117351876 G A 11:117222592 0.999983 46765 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism, levothyroxin purchases 0.000417 -0.0741 0.021 0.0003822 -0.147 0.041 CEP164 rs143659874 11:117351975:C:A 11 117351975 C A 11:117222691 0.90868 984 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Retinal vein occlusion (central or branch) 0.000406 3.764 1.0645 Convulsions, not elsewhere classified 0.0004917 11.799 3.385 CEP164 rs144206271 11:117361989:T:A 11 117361989 T A 11:117232705 0.930928 132 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Volvulus 0.000146 18.0211 4.7442 CEP164 rs200122409 11:117371449:A:G 11 117371449 A G 11:117242165 0.994536 1674 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 0.00115 0.9993 0.3074 Benign neoplasm: Rectum/anal canal icd-9 0.0004381 175.445 49.899 CEP164 rs117083334 11:117381721:A:G 11 117381721 A G 11:117252437 0.97762 8009 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis 15;not specified Amenorrhoea 0.000439 0.5837 0.1661 Benign neoplasm: Vagina (other cancers excluded from controls) 0.0003088 12.902 3.576 CEP164 rs2305830 11:117395596:C:G 11 117395596 C G 11:117266312 0.997365 0.302724 33742 77475 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations 3.28e-05 0.2089 0.0503 Pterygium 0.0001387 0.409 0.107 CEP164 rs573455 11:117397168:A:G 11 117397168 A G 11:117267884 0.998157 91357 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 0.000314 0.1367 0.0379 Iridocyclitis in diseases classified elsewhere 0.001336 0.289 0.09 CEP164 rs147398904 11:117411859:C:T 11 117411859 C T 11:117282575 0.96745 90 pLoF recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Family history of malignant neoplasm 0.000104 9.1861 2.3668 DSCAML1 rs61730454 11:117439391:C:T 11 117439391 C T 11:117310107 0.908224 710 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Age-related macular degeneration (whether dry or wet) 0.00343 0.9983 0.3412 FXYD2 rs149878562 11:117822469:C:T 11 117822469 C T 11:117693184 0.952399 407 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other Chron's disease 0.00122 3.4737 1.074 FXYD6-FXYD2 rs35705701 11:117822698:G:A 11 117822698 G A 11:117693413 0.985888 2097 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Renal Hypomagnesemia, Dominant Crohn disease 0.000615 0.8552 0.2497 Endometriosis of uterus 8.841e-05 5.832 1.488 IL10RA rs145949718 11:117989573:G:A 11 117989573 G A 11:117860288 0.949557 207 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Migraine without aura 0.00287 2.2864 0.7668 IL10RA rs4252303 11:117989590:G:A 11 117989590 G A 11:117860305 0.97921 2214 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inflammatory bowel disease;Inflammatory bowel disease 28, autosomal recessive Non-follicular lymphoma (other cancers excluded from controls) 0.00044 1.1799 0.3357 Accidents 0.0002193 19.592 5.301 IL10RA rs2256111 11:117993332:A:G 11 117993332 A G 11:117864047 0.994575 90797 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Burn and corrosion of wrist and hand 0.00203 0.2403 0.0779 Burn and corrosion of wrist and hand 0.0002602 0.245 0.067 IL10RA rs3135932 11:117993348:A:G 11 117993348 A G 11:117864063 0.987584 58573 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory diseases of prostate (prostatitis) 0.000325 0.1713 0.0477 Inflammatory bowel disease 0.0006316 0.137 0.04 IL10RA rs2228055 11:117994131:A:G 11 117994131 A G 11:117864846 0.99447 0.0567493 1234 19615 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory bowel disease Crohn's disease of small interstine 3.11e-05 -0.5098 0.1224 Unspecified jaundice 0.001131 1.542 0.473 IL10RA rs138929400 11:117995598:T:G 11 117995598 T G 11:117866313 0.987066 0.00167398 0 615 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of bladder 2.93e-05 2.823 0.6755 IL10RA rs56143179 11:117998788:C:T 11 117998788 C T 11:117869503 0.866734 123 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Spinal cord (other cancers excluded from controls) 0.00094 21.3837 6.4644 IL10RA rs2229113 11:117998955:A:G 11 117998955 A G 11:117869670 0.998118 84191 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fibromyalgia 0.000947 0.2233 0.0675 Other prurigo 0.0005085 0.348 0.1 IL10RA rs2229114 11:117999163:C:T 11 117999163 C T 11:117869878 0.955026 7784 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory bowel disease;Inflammatory bowel disease 28, autosomal recessive Cerebral palsy 0.00058 1.2467 0.3623 0.001175 9.745 3.003 CD3E rs143949187 11:118312170:C:T 11 118312170 C T 11:118182885 0.995398 4167 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Immunodeficiency 18;Severe Combined Immune Deficiency Sleep apnoea 0.000264 -0.2542 0.0697 Other specified/unspecified bacterial intestinal infections 0.001755 9.092 2.906 CD3G rs142915569 11:118349821:T:C 11 118349821 T C 11:118220536 0.996004 313 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm 0.000142 0.6156 0.1618 CD3G rs3753058 11:118350635:G:T 11 118350635 G T 11:118221350 0.997606 55176 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of gallbladder, biliary tract and pancreas 0.000409 -0.0546 0.0154 Mixed hyperlipidaemia 0.00011 0.583 0.151 CD3G rs148191859 11:118352431:T:C 11 118352431 T C 11:118223146 0.956476 184 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dyshidrosis [pompholyx] 0.00272 13.2645 4.4253 KMT2A rs9332772 11:118472663:G:A 11 118472663 G A 11:118343378 0.995551 15330 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Emotional disorders starting during childhood or adolecense (more controls excluded) 0.000559 0.6059 0.1756 Myositis 0.0009471 3.167 0.958 KMT2A rs139989306 11:118474124:C:T 11 118474124 C T 11:118344839 0.9618 287 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility, cervigal, vaginal, other or unspecified origin 0.00362 1.2483 0.429 KMT2A rs149404438 11:118482054:G:A 11 118482054 G A 11:118352769 0.991849 640 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glucoma-related operations 0.00126 3.4538 1.0712 KMT2A rs142985138 11:118503075:T:C 11 118503075 T C 11:118373790 0.985672 434 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Manic episode 0.000352 5.8277 1.6307 KMT2A rs140200473 11:118506166:C:T 11 118506166 C T 11:118376881 0.991396 527 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatitis due to substances taken internally 0.00145 2.445 0.7676 KMT2A rs117099452 11:118506210:A:G 11 118506210 A G 11:118376925 0.969361 546 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other sleepdisorders 0.000394 2.2423 0.6327 TMEM25 rs782438564 11:118535613:CAGTGTGGA:C 11 118535613 CAGTGTGGA C 11:118406328 0.995274 0.157215 9256 48503 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 5.78e-05 0.0537 0.0134 Parkinson's disease, strict definition 0.0003448 0.311 0.087 ARCN1 rs138863361 11:118581258:G:T 11 118581258 G T 11:118451973 0.988366 539 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperprolactinaemia 0.000125 4.6868 1.2218 0 4.214 0 ARCN1 rs138250193 11:118590457:G:A 11 118590457 G A 11:118461172 0.981281 0.00180463 4 659 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Long labour 9.28e-05 1.5681 0.4012 0 4.229 0 TREH rs34978247 11:118662885:T:C 11 118662885 T C 11:118533594 0.990813 565 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dissociative [conversion] disorders 0.00138 3.343 1.0451 BCL9L rs34123504 11:118901038:A:G 11 118901038 A G 11:118771747 0.996272 14088 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Chronic conjunctivitis 0.000504 0.7323 0.2105 Other/unspecified cytomegaloviral diseases 1.999e-05 9.022 2.115 BCL9L rs34752197 11:118901807:T:C 11 118901807 T C 11:118772516 0.996184 14091 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Chronic conjunctivitis 0.000509 0.7318 0.2105 Other/unspecified cytomegaloviral diseases 1.985e-05 9.038 2.118 BCL9L rs78780803 11:118902116:T:C 11 118902116 T C 11:118772825 0.996133 14194 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Chronic conjunctivitis 0.000573 0.7218 0.2096 Other/unspecified cytomegaloviral diseases 2.197e-05 8.806 2.075 UPK2 rs141565726 11:118957277:G:A 11 118957277 G A 11:118827987 0.989273 3053 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of intestine 0.000193 3.6666 0.9835 Malignant neoplasm of rectosigmoid junction (other cancers excluded from controls) 0.001509 60.266 18.993 TRAPPC4 rs8192696 11:119024976:C:T 11 119024976 C T 11:118895686 0.995772 61899 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of breast 0.000299 0.1563 0.0432 2.225e-05 0.261 0.061 SLC37A4 rs202209699 11:119025983:G:A 11 119025983 G A 11:118896693 0.996387 8252 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Disorders of brain, other and unspecified 0.000311 1.8921 0.5247 Acute mastoiditis 0.0002435 21.079 5.745 SLC37A4 rs34203644 11:119027660:T:A 11 119027660 T A 11:118898370 0.917354 574 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glucose-6-phosphate transport defect;not provided;not specified Disorders of optic nerve and visual pathways 0.000851 2.3102 0.6926 Alzheimer's disease (undefined) 2.319e-05 2237.068 528.647 SLC37A4 rs201036248 11:119027787:G:A 11 119027787 G A 11:118898497 0.976346 1738 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glucose-6-phosphate transport defect;not provided Traumatic subarachnoid haemorrhage 0.00081 2.466 0.7362 Superficial injuries involving multiple body regions 0.000529 143.944 41.535 VPS11 rs146380141 11:119078809:T:C 11 119078809 T C 11:118949519 0.977797 251 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cough 0.000374 1.3773 0.3871 HMBS rs138776835 11:119088681:C:T 11 119088681 C T 11:118959391 0.979647 473 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postmenopausal bleeding 0.000213 1.2465 0.3366 HMBS rs150428209 11:119093159:G:A 11 119093159 G A 11:118963869 0.994195 564 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Encephalitis 0.00159 3.9452 1.2493 DPAGT1 rs643788 11:119097048:T:C 11 119097048 T C 11:118967758 0.998284 86637 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alcoholic gastritis 0.000304 -0.3687 0.1021 Congenital malformations of the nervous system 0.0003657 -0.377 0.106 CBL rs1358339544 11:119278645:T:TATG 11 119278645 T TATG 11:119149355 0.914233 2177 inframe_indel dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cutaneous abscess, furuncle and carbuncle 0.000113 0.7203 0.1865 Dislocation of lens 0.0005519 119.186 34.505 MFRP rs145881139 11:119342609:C:A 11 119342609 C A 11:119213319 0.924768 894 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinal degeneration;not specified Haemorrhage in early pregnancy 0.000479 1.1872 0.34 Hypermobility syndrome 0.0006981 66.46 19.603 MFRP rs145319149 11:119343926:G:T 11 119343926 G T 11:119214636 0.971489 383 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Horner syndrome 0.000695 11.1089 3.2756 MFRP rs151160924 11:119344340:T:C 11 119344340 T C 11:119215050 0.922063 436 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other secondary coxarthrosis 0.000574 5.3391 1.5505 MFRP rs150902999 11:119345432:C:A 11 119345432 C A 11:119216142 0.910263 1003 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Tobacco use 0.000204 4.4007 1.1849 MFRP rs3814762 11:119345794:C:T 11 119345794 C T 11:119216504 0.986991 79125 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative colitis, NAS 0.00125 0.1247 0.0386 Other disorders of ear 0.0001576 0.053 0.014 NECTIN1 rs7940667 11:119639934:A:C 11 119639934 A C 11:119510644 0.98599 31596 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified congenital malformation syndromes affecting multiple systems 0.000547 -0.6783 0.1962 Invasive ventilation 0.001216 -0.203 0.063 NECTIN1 rs78809001 11:119677692:C:T 11 119677692 C T 11:119548402 0.97476 1105 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons with potential health hazards related to socioeconomic and psychosocial circumstances 0.000347 0.8099 0.2264 GRIK4 rs41297895 11:120819909:C:G 11 120819909 C G 11:120690618 0.975818 3131 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of anal and rectal regions 0.000595 0.885 0.2577 Emotional disorders and disorders of social functioning with onset specific to childhood 0.0003382 14.378 4.011 TECTA rs35507522 11:121102721:A:G 11 121102721 A G 11:120973430 0.966455 260 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postpartum haemorrhage 0.00156 2.1388 0.6761 TECTA rs774583320 11:121118422:G:A 11 121118422 G A 11:120989131 0.920896 110 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Campylobacter enteritis 0.000537 14.8665 4.2946 TECTA rs612969 11:121118626:A:G 11 121118626 A G 11:120989335 0.998405 91436 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Paranoid personality disorder 0.000327 0.3035 0.0845 Erythema nodosum 3.273e-05 0.284 0.068 TECTA rs139165033 11:121128038:C:G 11 121128038 C G 11:120998747 0.999982 561 missense_variant both Likely benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Other lesions of median nerve 0.000206 5.2401 1.412 TECTA rs520805 11:121130065:T:C 11 121130065 T C 11:121000774 0.999225 68270 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other medical care 0.000117 0.1315 0.0341 Manic episode 0.000435 0.336 0.096 TECTA rs147354818 11:121160165:A:G 11 121160165 A G 11:121030874 0.9931 806 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;not specified Arthropathic psoriasis 0.000213 1.886 0.5094 Papilloedema, unspecified 0.0003634 198.854 55.775 TECTA rs142948530 11:121162110:C:T 11 121162110 C T 11:121032819 0.953975 3310 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;not specified Calculus of lower urinary tract 0.000649 1.3086 0.3837 Deficiency of other B group vitamins 0.0004985 24.703 7.095 TECTA rs526433 11:121162269:G:A 11 121162269 G A 11:121032978 0.95671 2958 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schizophrenia, schizotypal and delusional disorders 0.000266 -0.517 0.1418 Schizophrenia, schizotypal and delusional disorders 0.0003688 -0.255 0.072 SC5D rs116993308 11:121304353:A:T 11 121304353 A T 11:121175062 0.980719 4604 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified inflammatory spondylopathies 0.000212 1.1422 0.3084 Phobic anxiety disorders 0.0001137 5.288 1.37 SC5D rs144180704 11:121307156:A:G 11 121307156 A G 11:121177865 0.989677 3199 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Respiratory distress of newborn 0.000581 3.2687 0.9501 Spinal osteochondrosis 0.001164 74.424 22.918 SORL1 rs150609294 11:121514222:A:C 11 121514222 A C 11:121384931 0.989363 1148 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of external ear 0.000457 4.4327 1.2648 0 6.576 0 SORL1 rs146903951 11:121570228:T:C 11 121570228 T C 11:121440937 0.996107 4922 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of hip and thigh 0.000163 0.6538 0.1734 Non-ischemic cardiomyopathy 0.0002166 2.751 0.744 SORL1 rs117725215 11:121614877:A:G 11 121614877 A G 11:121485586 0.968505 527 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conductive and sensorineural hearing loss 0.00075 0.5974 0.1772 Inguinal hernia 0.0003799 12.625 3.553 SORL1 rs62622819 11:121614890:T:A 11 121614890 T A 11:121485599 0.945339 0.00566159 10 2070 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm 5.57e-05 -0.2535 0.0629 Problems related to employment and unemployment 0.0002283 253.541 68.794 CLMP rs146055456 11:123097818:C:T 11 123097818 C T 11:122968526 0.927478 181 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behavioural disorders (more controls excluded) 0.000141 18.2589 4.7979 SCN3B rs186341159 11:123634162:G:A 11 123634162 G A 11:123504870 0.983844 1025 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs 0.000256 1.9085 0.522 0.0003798 -2.824 0.795 SCN3B rs771342044 11:123645746:A:C 11 123645746 A C 11:123516454 0.927434 156 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 2 diabetes with ophthalmic complications 0.00162 3.7723 1.1969 OR10G9 rs12366219 11:124023412:A:G 11 124023412 A G 11:123894119 0.994631 82389 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other ILD-related CVD-co-morbidities 0.000387 -0.0988 0.0279 Superficial injury of wrist and hand 0.001325 0.115 0.036 SIAE rs144510878 11:124647396:G:A 11 124647396 G A 11:124517292 0.993925 696 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Iliotibial band syndrome 0.000276 9.0221 2.4808 SIAE rs78778622 11:124660768:T:C 11 124660768 T C 11:124530664 0.969177 21733 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Autoimmune disease 6 Blepharochalasis 0.000281 0.2014 0.0555 Mixed conductive and sensorineural hearing loss 0.0009434 0.789 0.239 SIAE rs76655561 11:124669399:C:T 11 124669399 C T 11:124539295 0.991856 1313 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Calcaneal spur 0.00121 4.4016 1.3605 Transport accidents 0.001251 69.637 21.58 ROBO3 rs200451819 11:124870167:C:T 11 124870167 C T 11:124740063 0.989594 371 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other noninflammatory disorders of uterus, except cervix 0.00156 1.1543 0.365 ROBO3 rs142090631 11:124870248:G:A 11 124870248 G A 11:124740144 0.971134 1219 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Gaze palsy, familial horizontal, with progressive scoliosis Toxic effect of carbon monoxide 0.00112 3.5947 1.1028 Myositis 0.0008278 92.151 27.563 ROBO3 rs3862618 11:124872469:G:A 11 124872469 G A 11:124742365 0.991591 28952 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gaze palsy, familial horizontal, with progressive scoliosis Benign mammary dysplasia 0.00052 0.1916 0.0552 Personality and behavioural disorders due to brain disease, damage and dysfunction 0.0006295 1.695 0.496 ROBO3 rs4935898 11:124872489:G:A 11 124872489 G A 11:124742385 0.992362 11269 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gaze palsy, familial horizontal, with progressive scoliosis Bronchitis, not specified as acute or chronic 0.00136 0.3641 0.1137 Other disorders of optic [2nd] nerve and visual pathways 0.0002297 3.299 0.896 ROBO3 rs201405429 11:124874856:C:T 11 124874856 C T 11:124744752 0.994357 0.00171481 6 624 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inborn genetic diseases Benign neoplasm: Skin of ear and external auricular canal (other cancers excluded from controls) 2.95e-05 4.3916 1.0514 Benign neoplasm: Choroid 0.0005973 122.358 35.644 ROBO3 rs55706177 11:124876284:C:T 11 124876284 C T 11:124746180 0.992043 12724 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gaze palsy, familial horizontal, with progressive scoliosis Non-ischemic cardiomyopathy 0.00052 -0.1558 0.0449 Other disorders of optic [2nd] nerve and visual pathways 0.0006941 2.519 0.743 ROBO3 rs199932669 11:124876302:T:A 11 124876302 T A 11:124746198 0.909247 0.00123847 0 455 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cervical disc disorders 4.05e-05 1.3125 0.3198 ROBO3 rs111277969 11:124878300:G:A 11 124878300 G A 11:124748196 0.99239 17116 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gaze palsy, familial horizontal, with progressive scoliosis Other/unspecified reactive arthropathies 0.000398 0.4425 0.125 Pleural effusion 0.0008033 1.105 0.33 ROBO3 rs148372884 11:124879249:G:A 11 124879249 G A 11:124749145 0.991835 7472 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gaze palsy, familial horizontal, with progressive scoliosis Pneumonia due to Streptococcus pneumoniae 0.000482 0.8011 0.2295 Other meningitis 0.0006941 12.906 3.805 ROBO3 rs187100978 11:124879478:G:T 11 124879478 G T 11:124749374 0.997653 6719 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonia due to Streptococcus pneumoniae 0.000271 0.8886 0.244 Symptoms and signs involving cognition, perception, emotional state and behaviour 0.004237 -0.552 0.193 ROBO3 rs1318635553 11:124880551:CCGGAGT:C 11 124880551 CCGGAGT C 11:124750447 0.985434 75899 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of patella 0.00231 0.0927 0.0304 4.443e-05 0.036 0.009 ROBO3 rs139835890 11:124880575:C:A 11 124880575 C A 11:124750471 0.875003 404 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of stomach 0.000118 5.965 1.5492 ROBO4 rs138481093 11:124887086:G:A 11 124887086 G A 11:124756982 0.956061 523 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tic disorders (more controls excluded) 0.00171 8.2185 2.621 ROBO4 rs149507368 11:124891430:C:T 11 124891430 C T 11:124761326 0.976436 1179 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to negative life events in childhood 0.000168 4.3617 1.1592 HEPN1 rs3802904 11:124919859:T:C 11 124919859 T C 11:124789755 0.984026 64280 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitamin B12 deficiency anaemia 0.000709 0.1597 0.0472 Vitamin B12 deficiency anaemia 0.0006836 0.097 0.028 HEPN1 rs78859654 11:124919932:A:T 11 124919932 A T 11:124789828 0.987855 23305 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Megalencephalic leukoencephalopathy with subcortical cysts Other intervertebral disc disorders 0.000654 0.0876 0.0257 Dislocation, sprain and strain of joints and ligaments of elbow 6.517e-05 1.405 0.352 HEPACAM rs116102273 11:124921418:T:C 11 124921418 T C 11:124791314 0.987134 8006 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megalencephalic leukoencephalopathy with subcortical cysts;not specified Presence of other devices 0.000192 0.4055 0.1087 Macular pucker 0.0005274 3.654 1.054 HEPACAM rs149782549 11:124922760:G:A 11 124922760 G A 11:124792656 0.97935 194 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified follicular disorders 0.0023 7.2401 2.3753 HEPACAM rs10790715 11:124923786:T:C 11 124923786 T C 11:124793682 0.988856 66334 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyneuropathies and other disorders of the peripheral nervous system 0.000563 0.1209 0.0351 Polyneuropathies and other disorders of the peripheral nervous system 0.0002943 0.078 0.021 FEZ1 rs112732577 11:125452358:C:G 11 125452358 C G 11:125322254 0.991379 6637 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of nerves at forearm level 0.000102 2.0973 0.5396 Lesion of radial nerve 0.000131 9.745 2.548 STT3A rs2241502 11:125609468:G:A 11 125609468 G A 11:125479363 0.999234 81699 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hammer toe(s) (acquired) 0.000469 0.1136 0.0325 Diabetic ketoacidosis 4.308e-05 0.115 0.028 CHEK1 rs506504 11:125655300:A:G 11 125655300 A G 11:125525195 0.993705 11540 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otherdisorders of bone 0.00129 -0.2526 0.0785 Otherdisorders of bone 0.001104 -0.131 0.04 PUS3 rs117878071 11:125896127:C:T 11 125896127 C T 11:125766022 0.906466 596 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorder of thyroid, unspecified 0.000497 7.8764 2.2619 Other disorders of thyroid 0.0002735 229.212 62.985 PUS3 rs148691077 11:125896146:C:T 11 125896146 C T 11:125766041 0.978261 4441 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.000441 0.4083 0.1162 Special screening examination for infectious and parasitic diseases 0.001583 2.327 0.737 HYLS1 rs667782 11:125899459:T:C 11 125899459 T C 11:125769354 0.99641 0.279699 28878 73880 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thyroiditis 6.37e-05 0.2354 0.0589 DVT of lower extremities and pulmonary embolism 7.477e-05 0.1 0.025 HYLS1 rs104894232 11:125900000:A:G 11 125900000 A G 11:125769895 0.995759 3008 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute lymphadenitis 0.000225 1.124 0.3047 CDON rs684535 11:125961075:A:T 11 125961075 A T 11:125830970 0.992157 0.676073 167934 80447 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pyogenic granuloma 7.23e-05 -0.4908 0.1237 Any dementia (more controls excluded) 0.0002317 0.061 0.017 CDON rs115533243 11:125994311:T:C 11 125994311 T C 11:125864206 0.998501 16538 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Holoprosencephaly 11;Holoprosencephaly sequence;not specified Major coronary heart disease event excluding revascularizations 0.000473 0.1266 0.0362 Diverticular disease of intestine 0.000742 0.367 0.109 CDON rs12274923 11:126001820:G:A 11 126001820 G A 11:125871715 0.995163 0.212938 16732 61499 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Suppurative and unspecified otitis media 2.79e-05 0.1016 0.0242 Persons encountering health services in circumstances related to reproduction 9.184e-05 0.069 0.018 CDON rs145983470 11:126001826:G:C 11 126001826 G C 11:125871721 0.99107 7929 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Holoprosencephaly sequence;not provided Other disorders of white blood cells 0.00191 0.6847 0.2206 3.24e-06 2.579 0.554 CDON rs3740909 11:126019631:C:T 11 126019631 C T 11:125889526 0.991556 39693 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acohol-induced acute pancreatitis 0.000424 0.4167 0.1182 0.0005656 0.415 0.12 CDON rs3740912 11:126021374:C:T 11 126021374 C T 11:125891269 0.998307 86690 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sicca syndrome [Sjogren] 0.00115 0.1541 0.0474 Chronic mastoiditis 0.00167 0.178 0.057 FOXRED1 rs148346044 11:126271475:A:C 11 126271475 A C 11:126141370 0.997165 0.00192984 4 705 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mitochondrial complex I deficiency;not specified Disturbances of skin sensation 9.36e-05 1.325 0.3392 Benign neoplasm of thyroid gland 9.7e-06 125.475 28.364 FOXRED1 rs138061928 11:126277140:T:G 11 126277140 T G 11:126147035 0.996426 0.00167126 0 614 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ulcerative ileocolitis 5.04e-05 3.9828 0.9825 TIRAP rs8177374 11:126292948:C:T 11 126292948 C T 11:126162843 0.993551 42108 missense_variant unknown protective protective no assertion criteria provided no_Criteria Injuries to the ankle and foot 0.000244 -0.0826 0.0225 General examination and investigation of persons without complaint and reported diagnosis 0.002043 -0.109 0.035 DCPS rs146794173 11:126345368:C:T 11 126345368 C T 11:126215263 0.873879 324 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Placenta praevia 0.000164 6.9628 1.8476 DCPS rs143135288 11:126345467:T:G 11 126345467 T G 11:126215362 0.957034 563 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Genitourinary diseases 0.00043 0.3313 0.0941 ST3GAL4 rs2230279 11:126408180:C:T 11 126408180 C T 11:126278075 0.997168 0.238745 21286 66426 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of synovium and tendon in diseases classified elsewhere 1.43e-05 0.5291 0.1219 Disorders of synovium and tendon in diseases classified elsewhere 9.785e-07 0.863 0.176 KIRREL3 rs201204758 11:126562852:A:T 11 126562852 A T 11:126432747 0.896119 77 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Soft tissue disorders related to use, overuse and pressure 0.000567 3.7824 1.0973 ETS1 rs142279599 11:128485068:T:C 11 128485068 T C 11:128354963 0.994791 729 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Superficial injury of head 0.00155 1.1713 0.3701 Other noninfective disordersof lymphatic vessels and lymph nodes 0.0005621 139.165 40.346 ETS1 rs79963544 11:128489374:C:T 11 128489374 C T 11:128359269 0.977657 224 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of meninges 0.000151 7.2725 1.9192 KCNJ1 rs59172778 11:128839231:A:G 11 128839231 A G 11:128709126 0.997442 3120 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bartter syndrome, type 2, antenatal;not provided;not specified Other congenital malformations of the digestive system 0.00106 1.373 0.4193 Allergic urticaria 0.0003439 17.005 4.75 KCNJ1 rs185212943 11:128839982:T:C 11 128839982 T C 11:128709877 0.994409 0.00438229 2 1608 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Carpal tunnel syndrome 2.41e-05 0.5347 0.1266 KCNJ1 rs41302407 11:128840045:T:C 11 128840045 T C 11:128709940 0.935522 1368 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Antenatal Bartter Syndrome;not provided Other surgical follow-up care 0.000498 3.1073 0.8924 Hodgkin lymphoma (other cancers excluded from controls) 0.000837 97.744 29.262 C11orf45 rs78838391 11:128902706:T:C 11 128902706 T C 11:128772601 0.941023 135 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other behavioural and emotional disorders with onset usually occuring in childhood and adolescence 0.00158 5.2649 1.666 KCNJ5 rs7102584 11:128912117:C:G 11 128912117 C G 11:128782012 0.974327 0.975054 349286 8937 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Isolated proteinuria 2.67e-05 -1.2168 0.2897 Isolated proteinuria 1.52e-05 -0.641 0.148 ST14 rs150984123 11:130189806:G:A 11 130189806 G A 11:130059701 0.996022 402 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Metatarsalgia 0.00103 2.7809 0.8474 ST14 rs62642514 11:130194672:A:G 11 130194672 A G 11:130064567 0.986482 118 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Portal vein thrombosis 0.000383 34.0927 9.5989 SNX19 rs142783173 11:130880697:G:A 11 130880697 G A 11:130750592 0.998643 13502 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic ketoacidosis 0.000334 0.2402 0.067 Motor disorders 0.000954 10.289 3.114 SNX19 rs144457394 11:130903346:G:C 11 130903346 G C 11:130773241 0.890857 454 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicalgia 0.000239 1.7265 0.47 SNX19 rs61759531 11:130903384:C:G 11 130903384 C G 11:130773279 0.924088 3419 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectopic pregnancy 0.00115 0.6287 0.1934 Diffuse large B-cell lymphoma (other cancers excluded from controls) 2.479e-05 55.701 13.209 SNX19 rs117260465 11:130914991:T:C 11 130914991 T C 11:130784886 0.991512 5284 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic nephritic syndrome 0.000149 0.9934 0.262 Burn and corrosion confined to eye and adnexa 0.0005128 14.714 4.235 NTM rs201653643 11:132330155:G:A 11 132330155 G A 11:132200049 0.95239 1077 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cough 0.000134 0.6757 0.177 Guttate psoriasis 0.000962 87.065 26.372 NTM rs139579932 11:132335082:C:T 11 132335082 C T 11:132204976 0.99045 0.00126841 0 466 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperaldosteronism 8.75e-05 6.2289 1.5878 NCAPD3 rs35943668 11:134157049:G:T 11 134157049 G T 11:134026944 0.975328 4791 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Infections with a predominantly sexual mode of transmission 0.00124 0.3017 0.0934 Abnormal findings on examination of urine, without diagnosis 0.0003935 16.524 4.662 ACAD8 rs113488591 11:134259029:C:G 11 134259029 C G 11:134128923 0.969497 5935 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Deficiency of isobutyryl-CoA dehydrogenase;not specified Benign neoplasm of urinary organs (other cancers excluded from controls) 0.000763 0.9647 0.2866 Problems related to medical facilities and other health care 0.002355 6.91 2.272 ACAD8 rs200620279 11:134261756:G:A 11 134261756 G A 11:134131650 0.987799 551 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl ILD-related respiratory insufficiency 0.00172 1.0831 0.3455 IQSEC3 rs547194479 12:165530:G:GAGTGTAAGTCTTTGACAGCC 12 165530 G GAGTGTAAGTCTTTGACAGCC 12:274696 0.987906 11777 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Poisoning by narcotics and psychodysleptics [hallucinogens] 0.000135 1.2828 0.3361 Disorders of brain, other and unspecified 0.002639 6.799 2.261 B4GALNT3 rs35419938 12:553246:G:C 12 553246 G C 12:662412 0.977581 281 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spermatocele 2e-04 5.093 1.3696 B4GALNT3 rs151321644 12:553529:C:T 12 553529 C T 12:662695 0.976126 298 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spermatocele 0.000322 4.6213 1.2848 WNK1 rs11554421 12:753986:G:A 12 753986 G A 12:863152 0.976117 63408 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of white blood cells 0.000751 0.2629 0.078 Ingrowing nail 0.001253 0.323 0.1 WNK1 rs72647372 12:754143:C:A 12 754143 C A 12:863309 0.969309 234 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Intestinal infectious diseases 0.00013 0.9268 0.2422 WNK1 rs2286007 12:862125:C:T 12 862125 C T 12:971291 0.995295 26054 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism, type 2;not provided;not specified Erythema intertrigo 0.000646 -0.7133 0.2091 Chlocystitis 0.0007976 0.563 0.168 WNK1 rs72649848 12:865332:C:T 12 865332 C T 12:974498 0.867338 227 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Any mental disorder 0.00243 -0.559 0.1844 WNK1 rs956868 12:881746:A:C 12 881746 A C 12:990912 0.999987 67973 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of white blood cells 0.00013 -0.2849 0.0745 Other disorders of white blood cells 0.0004878 -0.158 0.045 WNK1 rs1329652210 12:885406:TAGC:T 12 885406 TAGC T 12:994572 0.963365 3353 inframe_indel both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pulmonary heart disease, diseases of pulmonary circulation 0.000932 0.4419 0.1335 Other obstetric trauma 0.0001003 28.916 7.434 WNK1 rs12828016 12:889199:G:T 12 889199 G T 12:998365 0.99752 0.294901 31954 76389 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of meninges 3.11e-05 0.2147 0.0516 Benign neoplasm of meninges 2.654e-05 0.253 0.06 WNK1 rs17755373 12:890472:C:T 12 890472 C T 12:999638 0.99036 0.0126134 56 4578 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary sensory and autonomic neuropathy type II;Hereditary sensory and autonomic neuropathy type IIA;Pseudohypoaldosteronism type 2C;Pseudohypoaldosteronism, type 2;not provided Leiomyoma of uterus (other cancers excluded from controls) 4.29e-07 0.3321 0.0657 Other disorders of nervous system 0.000829 11.476 3.433 WNK1 rs544395150 12:894591:GCAACTAGTT:G 12 894591 GCAACTAGTT G 12:1003757 0.977711 721 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mood [affective] disorders 0.000924 -0.4547 0.1372 RAD52 rs4987208 12:913403:A:C 12 913403 A C 12:1022569 0.997557 5838 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Abnormal spermatozoa 0.000792 0.7627 0.2273 Other disorders of breast 0.0005321 5.821 1.68 CACNA2D4 rs145150489 12:1793713:G:A 12 1793713 G A 12:1902879 0.995569 1548 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cone dystrophy 3;Retinal cone dystrophy 4 Adhesive capsulitis of shoulder 0.000252 0.9028 0.2466 Medical abortion 1.125e-06 3.449 0.708 CACNA2D4 rs61741336 12:1797466:G:A 12 1797466 G A 12:1906632 0.955083 635 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of oesophagus 0.000593 1.9327 0.5627 CACNA2D4 rs55971855 12:1799683:A:G 12 1799683 A G 12:1908849 0.955889 834 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Radial styloid tenosynovitis [de Quervain] 0.00155 2.3156 0.7316 Subacute thyroiditis 0.001215 62.484 19.313 CACNA2D4 rs62621429 12:1801620:C:T 12 1801620 C T 12:1910786 0.997189 7612 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone dystrophy 3;not specified Mixed specific developmental disorders 0.000569 1.3961 0.4051 Colon adenocarcinoma (other cancers excluded from controls) 0.0001023 3.813 0.981 CACNA2D4 rs151121191 12:1856069:G:A 12 1856069 G A 12:1965235 0.807553 61 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary retinal dystrophy 0.000195 42.7237 11.4684 CACNA2D4 rs10735005 12:1886237:T:C 12 1886237 T C 12:1995403 0.997249 37125 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Use of antiglaucoma preparations and miotics 0.000946 -0.2368 0.0716 Use of antiglaucoma preparations and miotics 0.0006818 -0.134 0.039 CACNA1C rs34534613 12:2115283:G:A 12 2115283 G A 12:2224449 0.984065 0.00997583 54 3611 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brugada syndrome;Cardiovascular phenotype;History of neurodevelopmental disorder;Long QT syndrome;Timothy syndrome;not provided;not specified Complications associated with artificial fertilization 1.2e-05 2.9514 0.6743 Cholelithiasis 0.001105 1.678 0.514 CACNA1C rs755579963 12:2115386:C:T 12 2115386 C T 12:2224552 0.964271 0.000914564 0 336 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute appendicitis, with complications 2.6e-05 2.1985 0.5226 CACNA1C rs201756421 12:2486257:T:C 12 2486257 T C 12:2595423 0.880247 0.000168759 0 62 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Concussion 8.65e-05 3.4682 0.8835 CACNA1C rs201392574 12:2567682:G:A 12 2567682 G A 12:2676848 0.986774 450 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Obesity 0.000159 1.0429 0.2761 CACNA1C rs112532048 12:2585485:C:T 12 2585485 C T 12:2694651 0.99348 336 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified mental retardation 0.000742 10.7509 3.1867 CACNA1C rs575583988 12:2593223:TGAG:T 12 2593223 TGAG T 12:2702389 0.912045 331 inframe_indel dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter History of neurodevelopmental disorder;Long QT syndrome;not provided;not specified Perineal laceration during delivery 0.000839 2.7172 0.8136 Mouth breathing 0.0007907 7.782 2.319 CACNA1C rs374425919 12:2679796:G:C 12 2679796 G C 12:2788962 0.9334 930 missense_variant dominant Uncertain significance VUS no assertion criteria provided no_Criteria Long QT syndrome Other arrhytmias 0.000836 0.5155 0.1543 0.0003488 184.582 51.616 CACNA1C rs10848683 12:2681964:C:T 12 2681964 C T 12:2791130 0.988899 47714 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations and deformations of the musculoskeletal system 0.000994 -0.2132 0.0648 Adjustment and management of implanted device 0.0005729 0.103 0.03 CACNA1C rs10774053 12:2681966:A:G 12 2681966 A G 12:2791132 0.988757 47171 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations and deformations of the musculoskeletal system 0.00231 -0.1983 0.0651 Adjustment and management of implanted device 0.0003755 0.107 0.03 FOXM1 rs28919870 12:2858912:G:A 12 2858912 G A 12:2968078 0.85516 262 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dependence on enabling machines and devices, not elsewhere classified 0.00142 17.6669 5.5382 RHNO1 rs34096285 12:2885388:C:T 12 2885388 C T 12:2994554 0.945276 0.000421897 0 155 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at hip and thigh level 1.82e-05 8.4082 1.9618 RHNO1 rs140887418 12:2887992:C:T 12 2887992 C T 12:2997158 0.987616 1252 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension complicating pregnancy, childbirth, and the puerperium 0.000673 0.5606 0.1649 CCND2 rs142170178 12:4299924:G:A 12 4299924 G A 12:4409090 0.986142 2011 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Type 2 diabetes, definitions combined 0.00016 0.2957 0.0783 4.533e-05 1.668 0.409 FGF23 rs7955866 12:4370383:G:A 12 4370383 G A 12:4479549 0.97616 37665 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-rheumatic valve diseases 0.000372 -0.1033 0.029 3.468e-05 0.463 0.112 C12orf4 rs1468772495 12:4518108:A:G 12 4518108 A G 12:4627274 0.896344 97 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria KRA_PSY_EATING (more controls excluded) 0.00174 7.4942 2.3936 NDUFA9 rs200750609 12:4682213:G:A 12 4682213 G A 12:4791379 0.995811 284 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic polyneuropathy 0.000472 7.9508 2.2742 NDUFA9 rs34076756 12:4682285:C:T 12 4682285 C T 12:4791451 0.985356 0.0256922 244 9195 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not provided;not specified Carcinoma in situ of skin of other and unspecified parts of face 8.31e-05 0.8414 0.2138 Contusion of toe(s) without damage to nail 6.993e-05 12.215 3.072 KCNA5 rs35853292 12:5044780:G:C 12 5044780 G C 12:5153946 0.935606 186 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Persons encountering health services in circumstances related to reproduction 0.000174 -0.9179 0.2445 KCNA5 rs12720442 12:5044898:G:A 12 5044898 G A 12:5154064 0.964255 0.0104032 44 3778 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation, familial, 7;Familial atrial fibrillation;not specified Benign neoplasm: Anus and anal canal 9.44e-06 2.1835 0.4929 COPD related to chronic (opportunist) infections 4.63e-05 42.99 10.553 KCNA5 rs17215409 12:5045066:C:T 12 5045066 C T 12:5154232 0.974795 0.000941784 0 346 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Falls/tendenct to fall 7.22e-05 3.847 0.9693 KCNA5 rs17215402 12:5045076:C:T 12 5045076 C T 12:5154242 0.926864 616 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melanocytic naevi, other sites/unspecified (other cancers excluded from controls) 0.000225 3.5453 0.9611 KCNA5 rs201328038 12:5045819:G:A 12 5045819 G A 12:5154985 0.980425 0.000451838 10 156 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otitis media, unspecified 5.14e-05 5.4944 1.3569 Symptoms and signs involving speech and voice 0.0008163 10.555 3.153 KCNA5 rs12720445 12:5045880:G:A 12 5045880 G A 12:5155046 0.938891 379 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Seronegative rheumatoid arthritis 0.00029 2.4756 0.6831 Other malignant neoplasms of skin (=non-melanoma skin cancer) 0.009785 11.083 4.29 NTF3 rs1805149 12:5494441:G:A 12 5494441 G A 12:5603607 0.975596 2830 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria severe traumatic brain injury, does not include concussion 0.000271 0.64 0.1758 Personal history of certain other diseases 0.0004208 175.356 49.722 ANO2 rs200078432 12:5635329:T:C 12 5635329 T C 12:5744495 0.9671 7806 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nephrotic syndrome 0.000768 0.8997 0.2675 0.0001295 0.529 0.138 VWF rs7962217 12:5952393:C:T 12 5952393 C T 12:6061559 0.998461 20396 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified;von Willebrand disorder Small cell lung cancer (other cancers excluded from controls) 0.000685 0.853 0.2512 Small cell lung cancer (other cancers excluded from controls) 0.001106 3.018 0.925 VWF rs149834874 12:5952518:C:G 12 5952518 C G 12:6061684 0.992924 0.00118676 6 430 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl not specified Endocrine, nutritional and metabolic diseases 6.97e-05 -0.4742 0.1192 Atopic conjunctivitis 0.001516 57.871 18.246 VWF rs61751302 12:5953542:G:A 12 5953542 G A 12:6062708 0.993238 6690 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Von Willebrand disease, recessive form;not provided;von Willebrand disease type 1;von Willebrand disease type 2 Glomerular disorders in diseases classified elsewhere 0.00101 -0.4882 0.1485 Stroke, including SAH 0.0004406 1.029 0.293 VWF rs35335161 12:5969258:A:T 12 5969258 A T 12:6078424 0.975754 25637 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified;von Willebrand disorder Acute posthaemorrhagic anaemia 0.00115 0.4818 0.1482 Primary_lymphoid and hematopoietic malignant neoplasms 0.0005285 0.489 0.141 VWF rs34230288 12:5993928:C:A 12 5993928 C A 12:6103094 0.9776 3839 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Other specific arthropathies 0.000774 1.6393 0.4876 Disorders of other endocrine glands 0.000722 2.36 0.698 VWF rs61750615 12:5994484:G:A 12 5994484 G A 12:6103650 0.996465 434 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other acquired deformities of musculoskeletal system and connective tissue 0.000394 4.54 1.2811 VWF rs144072210 12:5996214:T:C 12 5996214 T C 12:6105380 0.909562 0.0011051 0 406 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Diabetes mellitus in pregnancy 5.6e-05 1.5736 0.3906 VWF rs61750604 12:6016549:C:T 12 6016549 C T 12:6125715 0.88694 0.000193256 0 71 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Need for immunization against other single viral diseases 7.24e-05 23.0433 5.8067 VWF rs61750598 12:6018404:C:T 12 6018404 C T 12:6127570 0.975432 369 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pleural plaque 0.000769 2.8703 0.8534 VWF rs1800386 12:6018667:T:C 12 6018667 T C 12:6127833 0.969494 0.00451294 10 1648 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Inborn genetic diseases;not provided;not specified;von Willebrand disease, type 1, susceptibility to;von Willebrand disorder Iron deficiency anaemia 2.14e-05 0.6865 0.1615 Personal history of certain other diseases 0.0003652 189.311 53.117 VWF rs1800385 12:6018725:C:A 12 6018725 C A 12:6127891 0.979811 16980 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified;von Willebrand disorder Papilloedema, unspecified 0.00159 0.82 0.2597 Abnormalities of gait and mobility 0.0006555 1.457 0.427 VWF rs1800383 12:6019004:C:G 12 6019004 C G 12:6128170 0.979814 24535 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified;von Willebrand disorder Enthesopathies of lower limb, excluding foot 0.00171 0.1675 0.0534 Ganglion 2.276e-05 0.602 0.142 VWF rs1800382 12:6019222:C:T 12 6019222 C T 12:6128388 0.916834 0.0122241 66 4425 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl VON WILLEBRAND FACTOR POLYMORPHISM;not provided Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 2.61e-05 0.797 0.1895 Follicular lymphoma 0.002079 9.892 3.213 VWF rs216311 12:6019277:T:C 12 6019277 T C 12:6128443 0.987768 90826 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute suppurative otitis media 0.00116 0.0761 0.0234 Speech disturbances, not elsewhere classified 8.242e-05 0.16 0.041 VWF rs33978901 12:6031493:C:T 12 6031493 C T 12:6140659 0.963502 2728 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Infections of the skin and subcutaneous tissue 0.00091 -0.3254 0.0981 Other specified/unspecified disorders of synovium and tendon +Other specified/unspecified bursopathies 0.000934 24.549 7.417 VWF rs41276738 12:6034812:C:T 12 6034812 C T 12:6143978 0.989242 1768 missense_variant both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Von Willebrand disease, recessive form;not provided;von Willebrand disease type 1;von Willebrand disease type 1;von Willebrand disease type 2;von Willebrand disease type 2;von Willebrand disease type 2N;von Willebrand disorder Childhood allergy (age < 16) 0.000836 0.8816 0.2639 Infections of breast associated with childbirth 0.000853 97.215 29.15 VWF rs745322229 12:6044297:CG:C 12 6044297 CG C 12:6153463 0.960198 0.000756693 2 276 pLoF both Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Von Willebrand disease 2.05e-11 40.6378 6.063 VWF rs1063856 12:6044368:T:C 12 6044368 T C 12:6153534 0.997975 83738 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adverse effects, not elsewhere classified 0.000412 -0.114 0.0323 Adverse effects, not elsewhere classified 0.0004885 -0.115 0.033 VWF rs1800378 12:6063036:T:C 12 6063036 T C 12:6172202 0.996469 82611 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other neurological diseases 0.000436 -0.0555 0.0158 Other neurological diseases 0.0002269 -0.039 0.011 VWF rs1800377 12:6064267:C:T 12 6064267 C T 12:6173433 0.981841 0.100373 3724 33152 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified;von Willebrand disorder Persons with potential health hazards related to communicable diseases 1.4e-05 0.2786 0.0641 Postpartum care and examination 0.0001637 0.47 0.125 VWF rs1800387 12:6073662:A:T 12 6073662 A T 12:6182828 0.976482 6722 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified;von Willebrand disorder Alcohol related diseases, tilastokeskus definition, death only 0.000263 0.7098 0.1945 Lesion of radial nerve 0.001529 8.645 2.728 VWF rs7980045 12:6095449:T:G 12 6095449 T G 12:6204615 0.975577 7684 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of other and ill-defined parts of digestive system (other cancers excluded from controls) 0.000188 0.4559 0.122 Benign neoplasm: Other and unspecified parts of small intestine (other cancers excluded from controls) 0.001826 7.973 2.558 TNFRSF1A rs4149584 12:6333477:C:T 12 6333477 C T 12:6442643 0.912988 3840 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl TNF receptor-associated periodic fever syndrome (TRAPS) Sarcoidosis 0.00092 0.6303 0.1902 All-cause Heart Failure 0.001385 1.374 0.43 SCNN1A rs576872942 12:6347878:G:GC 12 6347878 G GC 12:6457044 0.88317 886 LC both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Open wound of wrist and hand 0.000483 0.7374 0.2113 Burn and corrosion of head and neck 0.0002268 238.363 64.648 SCNN1A rs2228576 12:6347896:T:C 12 6347896 T C 12:6457062 0.95842 0.710968 185976 75225 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joint and ligaments of hip 5.86e-05 0.3726 0.0927 Dislocation, sprain and strain of joint and ligaments of hip 0.000161 0.225 0.06 SCNN1A rs5742912 12:6349184:A:G 12 6349184 A G 12:6458350 0.991824 0.0122078 60 4425 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bronchiectasis with or without elevated sweat chloride 2;Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism type 1 autosomal recessive;not specified Hypertension, essential 7.51e-06 -0.2232 0.0498 Female infertility, associated with anovulation 6.604e-05 10.597 2.656 SCNN1A rs11542844 12:6355415:C:T 12 6355415 C T 12:6464581 0.996555 31203 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism type 1 autosomal recessive;not specified Other and unspecified nerve root and plexus disorders, also in other diseases 0.00184 -0.1833 0.0588 Pericarditis 0.000555 1.078 0.312 SCNN1A rs55797039 12:6363586:G:A 12 6363586 G A 12:6472752 0.923096 4587 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cystic Fibrosis-Like Syndrome;Pseudohypoaldosteronism type 1 autosomal recessive;not specified Benign neoplasm: Cranial nerves 0.000386 1.5507 0.4369 Sarcoidosis 0.002735 4.033 1.346 SCNN1A rs61758858 12:6374851:G:A 12 6374851 G A 12:6484017 0.920519 168 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endocrine, nutritional and metabolic diseases 0.000106 -0.7475 0.1928 CD27 rs2532502 12:6451307:A:G 12 6451307 A G 12:6560473 0.845859 587 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endocrine, nutritional and metabolic diseases 0.000481 0.3783 0.1084 Beningn neoplasm: Meninges, unspecified (other cancers excluded from controls) 0.0005977 -3.787 1.103 VAMP1 rs71584837 12:6462840:G:A 12 6462840 G A 12:6572006 0.9391 2145 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Other bursitis, not elsewhere classified 0.00212 3.169 1.0314 Atrial fibrillation and flutter 0.0004973 3.64 1.045 NCAPD2 rs17725914 12:6521822:A:G 12 6521822 A G 12:6630988 0.892154 549 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pre-existing hypertension complicating pregnancy, childbirth and the puerperium 0.00161 2.5109 0.796 NCAPD2 rs71579325 12:6528976:T:C 12 6528976 T C 12:6638142 0.989593 444 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn's disease of large intestine 0.000984 3.674 1.115 NCAPD2 rs61752289 12:6531353:G:A 12 6531353 G A 12:6640519 0.964375 347 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Subacute thyroiditis 0.00164 5.3929 1.7124 NOP2 rs61731913 12:6557330:C:T 12 6557330 C T 12:6666496 0.878467 749 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic nephropathy 0.00016 1.3644 0.3615 LAG3 rs149434241 12:6775419:A:T 12 6775419 A T 12:6884585 0.97662 4135 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis of hip 0.000682 1.8906 0.5566 Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.0002222 19.193 5.198 LAG3 rs139429051 12:6778280:A:T 12 6778280 A T 12:6887446 0.946246 5937 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyspnoea 0.000461 0.1873 0.0535 Orchitis and epididymitis 8.572e-05 5.607 1.428 GPR162 rs371430068 12:6827125:C:CG 12 6827125 C CG 12:6936290 0.944554 3368 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple myeloma and malignant plasma cell neoplasms 0.00229 1.1639 0.3815 Other arrhytmias 0.002642 1.636 0.544 TPI1 rs1800202 12:6867505:T:G 12 6867505 T G 12:6976669 0.973312 0.000892789 2 326 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Endocrine disorders, other/unspecified 6.64e-05 5.4411 1.3641 RP3-461F17.3 rs11064480 12:6971024:C:G 12 6971024 C G 12:7080187 0.989993 24945 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Trochanteric bursitis 0.000236 0.2885 0.0785 Other obstructed labour 8.683e-05 1.454 0.371 C1S rs117907409 12:7066589:G:A 12 7066589 G A 12:7173893 0.99544 933 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign lipomatous neoplasm of other sites/unspecified 0.000708 1.5601 0.4607 Monoplegia 0.0005198 151.352 43.613 C1R rs139531404 12:7090144:C:G 12 7090144 C G 12:7242740 0.995769 0.00280902 12 1020 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specific joint derangements/joint disorders 9.17e-05 0.5211 0.1332 Benign neoplasm of male genital organs 7.353e-06 68.945 15.379 PEX5 rs149102738 12:7201803:G:C 12 7201803 G C 12:7354399 0.987948 0.00535401 16 1951 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Zellweger syndrome;not provided;not specified Asthma (only as main-diagnosis) 5.51e-05 0.3895 0.0966 Subarachnoid haemmorrhage 0.0004262 14.453 4.102 PEX5 rs200020561 12:7202256:C:T 12 7202256 C T 12:7354852 0.995487 0.00986695 38 3587 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving speech and voice 3.9e-05 0.4993 0.1214 Other functional intestinal disroders 0.00134 2.642 0.824 PEX5 rs76708142 12:7202673:T:C 12 7202673 T C 12:7355269 0.921974 769 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neonatal adrenoleucodystrophy;Zellweger syndrome;not provided Other specified congenital malformation syndromes affecting multiple systems 0.000803 4.8606 1.4502 Other and unspecified injuries of shoulder and upper arm 0.001207 68.845 21.267 GDF3 rs2302516 12:7689991:C:G 12 7689991 C G 12:7842587 0.995318 14368 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Klippel-Feil syndrome 3, autosomal dominant Disorders of other endocrine glands 0.000107 -0.1863 0.0481 Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system 0.0007777 5.44 1.619 GDF3 rs140926412 12:7690177:G:A 12 7690177 G A 12:7842773 0.993649 2594 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hemivertebrae;Klippel-Feil syndrome 3, autosomal dominant;Microphthalmia, isolated, with coloboma 6;Missing ribs;Scoliosis;Supernumerary ribs Cauda equina syndrome 0.000103 4.1614 1.0714 Postydysenteric arthropathy 0.001932 49.048 15.82 GDF3 rs146973734 12:7690389:C:T 12 7690389 C T 12:7842985 0.993463 0.000966281 0 355 missense_variant dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Ohter specific/unspecified arthritis 7.27e-05 1.9251 0.4853 CLEC4D rs4304840 12:8515301:A:G 12 8515301 A G 12:8667897 0.99522 60755 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of sciatic nerve 0.000749 -0.2364 0.0701 Specific development disorders of speech and language 0.0009233 0.344 0.104 AICDA rs200858797 12:8605226:A:G 12 8605226 A G 12:8757822 0.95001 0.00128475 2 470 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Other deformities of toe(s) 2.92e-05 6.1756 1.4776 A2ML1 rs79149293 12:8823277:C:G 12 8823277 C G 12:8975873 0.983884 489 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of fluid, electrolyte and acid-base balance 0.00114 1.261 0.3876 A2ML1 rs61921916 12:8838341:C:A 12 8838341 C A 12:8990937 0.9477 2120 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Retinal vascular disorders 0.000229 1.0486 0.2846 Hypotension 0.0009898 9.41 2.857 A2ML1 rs192888493 12:8838367:T:C 12 8838367 T C 12:8990963 0.97823 424 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonsyndromic otitis media;not specified Papulosquamous disorders 0.00109 1.0507 0.3217 Ulcerative ileocolitis 0.0005028 172.337 49.533 A2ML1 rs7300139 12:8845245:G:T 12 8845245 G T 12:8997841 0.985022 53924 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Heart failure, not strict 0.000688 0.0564 0.0166 Respiratory tuberculosis 0.0001598 0.435 0.115 A2ML1 rs117213221 12:8850237:T:C 12 8850237 T C 12:9002833 0.993524 1618 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Otitis media, susceptibility to;not provided Ventral hernia 0.000119 0.8345 0.2168 Benign neoplasm: Connective and other soft tissue of lower limb, including hip 0.0005153 147.775 42.553 A2ML1 rs1558526 12:8857224:G:A 12 8857224 G A 12:9009820 0.986764 51812 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sudden idiopathic hearing loss 0.0011 0.1846 0.0566 Other skin changes 0.000228 0.372 0.101 A2ML1 rs1860967 12:8861159:C:T 12 8861159 C T 12:9013755 0.994632 0.426587 67206 89517 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Short bones of upper limb 3.62e-05 0.4693 0.1136 0.0003697 -0.332 0.093 A2ML1 rs201093464 12:8861190:C:T 12 8861190 C T 12:9013786 0.982972 670 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Any mental disorder 0.000858 0.3594 0.1078 Bronchitis 5.576e-05 3.047 0.756 A2ML1 rs73040625 12:8863860:C:T 12 8863860 C T 12:9016456 0.991683 17811 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Colectomy operation 0.000431 0.2997 0.0851 Acute nasopharyngitis(common cold) 0.000502 0.935 0.269 A2ML1 rs764945357 12:8863966:GGC:G 12 8863966 GGC G 12:9016562 0.966581 11215 pLoF dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ectropion of eyelid 0.00273 0.6794 0.2267 Pericarditis 1.15e-05 6.235 1.421 A2ML1 rs7308811 12:8867893:A:G 12 8867893 A G 12:9020489 0.997359 50881 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Heart failure, not strict 0.00071 -0.0575 0.017 Heart failure, not strict 0.0001148 -0.038 0.01 A2ML1 rs201478459 12:8868002:A:G 12 8868002 A G 12:9020598 0.931633 248 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other neurological diseases 0.000539 1.0041 0.2902 A2ML1 rs202067416 12:8868358:G:A 12 8868358 G A 12:9020954 0.988907 617 pLoF dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acne vulgaris 0.000647 2.297 0.6734 A2M rs669 12:9079672:T:C 12 9079672 T C 12:9232268 0.999975 0.404741 60024 88673 missense_variant dominant Benign, risk factor risk factor no assertion criteria provided no_Criteria Pneumonia, organism unsepcified 3.13e-05 0.0486 0.0117 Cerebral palsy and other paralytic syndromes 0.0003561 0.129 0.036 A2M rs1273074647 12:9093580:CTATGG:C 12 9093580 CTATGG C 12:9246176 0.997611 0.107268 4272 35137 LC dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gastrointestinal diseases 3.89e-05 -0.0466 0.0113 Vulvovaginal ulceration/inflammation in other diseases 6.33e-05 1.033 0.258 PZP rs145240281 12:9168938:G:A 12 9168938 G A 12:9321534 0.993809 3787 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 0.000519 -0.1651 0.0476 Palindromic rheumatism 2.766e-05 54.711 13.051 CLEC1A rs2306894 12:10098846:C:G 12 10098846 C G 12:10251445 0.998177 41761 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Substance abuse (more controls excluded) 0.000465 -0.0911 0.026 Autoimmune thyroiditis 0.000572 -0.289 0.084 CLEC7A rs16910526 12:10118488:A:C 12 10118488 A C 12:10271087 0.999655 19982 LC recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aspergillosis, susceptibility to;Familial chronic mucocutaneous candidiasis;not specified Primary_lymphoid and hematopoietic malignant neoplasms (other cancers excluded from controls) 0.000702 -0.2082 0.0614 Ulcer of lower limb, not elsewhere classified 0.0008793 0.915 0.275 CLEC7A rs140318683 12:10123309:G:A 12 10123309 G A 12:10275908 0.988926 5450 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lagophthalmos 0.000404 2.3398 0.6614 Colon adenocarcinoma 0.0003543 6.72 1.881 OLR1 rs11053646 12:10160849:C:G 12 10160849 C G 12:10313448 0.99921 0.089856 2966 30046 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Myocardial infarction Pain associated with micturition 5.37e-05 0.2967 0.0735 Alogoneurodystrophy 3.929e-05 1.635 0.398 KLRC3 rs2682491 12:10420495:C:G 12 10420495 C G 12:10573094 0.986035 83235 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the circulatory and respiratory systems 0.000129 -0.0324 0.0085 Other disorders starting during childhood or adolecense (more controls excluded) 6.371e-06 0.223 0.049 TAS2R7 rs150192473 12:10801931:G:A 12 10801931 G A 12:10954530 0.98488 328 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary coxarthrosis, bilateral 0.000489 1.658 0.4755 TAS2R9 rs113883583 12:10809423:C:T 12 10809423 C T 12:10962022 0.952905 0.000658704 0 242 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of elbow 8.12e-05 6.3078 1.6007 PRH1 rs61914782 12:10882381:G:A 12 10882381 G A 12:11034980 0.995861 68376 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected disproportion 0.000163 -0.2743 0.0728 Persons encountering health services in circumstances related to reproduction 6.505e-05 -0.061 0.015 ETV6 rs145477191 12:11869562:T:C 12 11869562 T C 12:12022496 0.91669 984 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Premature separation of placenta [abruptio placentae] 0.000806 3.733 1.114 Depression 0 5.769 0 DUSP16 rs200271649 12:12477747:TGGGC:T 12 12477747 TGGGC T 12:12630681 0.994543 9022 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other neurotic disorders 0.000281 0.5901 0.1625 Other shoulder lesions 0.0002867 4.371 1.205 CDKN1B rs2066827 12:12718165:T:G 12 12718165 T G 12:12871099 0.921457 0.235702 20700 65894 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chondromalacia 1.83e-05 0.3932 0.0918 Lesion of plantar nerve 0.001221 0.26 0.08 GRIN2B rs187979330 12:13563825:C:T 12 13563825 C T 12:13716759 0.99856 544 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations of peripheral vascular system 0.00133 8.9301 2.7819 ATF7IP rs111490805 12:14425420:C:T 12 14425420 C T 12:14578354 0.950459 909 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis, strict definition 0.000909 0.8221 0.2478 Lagophthalmos 0.0002312 261.108 70.91 ATF7IP rs61758731 12:14436179:G:C 12 14436179 G C 12:14589113 0.983039 576 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disturbances of skin sensation 0.000748 1.2635 0.3748 GUCY2C rs140135995 12:14625815:G:T 12 14625815 G T 12:14778749 0.959866 400 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis [arthrosis of hip](FG) 0.000112 1.0803 0.2797 GUCY2C rs56275235 12:14686215:C:T 12 14686215 C T 12:14839149 0.990653 799 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins of other sites 0.00104 1.7664 0.5386 0.0006894 -2.526 0.744 ART4 rs11276 12:14840505:C:T 12 14840505 C T 12:14993439 0.999954 77775 missense_variant unknown Affects association no assertion criteria provided no_Criteria Other or ill-defined heart diseases 0.000345 0.23 0.0643 Obstructed labour due to maternal pelvic abnormality 5.865e-05 0.2 0.05 MGP rs80337043 12:14882112:A:C 12 14882112 A C 12:15035046 0.999105 3308 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Keutel syndrome Panic disorder 0.00137 0.5927 0.1852 Biliary chirrosis, primary 0.003033 32.927 11.108 MGP rs4236 12:14882147:T:C 12 14882147 T C 12:15035081 0.99993 79020 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polycythaemia vera 0.000526 -0.3153 0.0909 Obstructed labour due to maternal pelvic abnormality 3.752e-05 0.2 0.049 MGP rs1801716 12:14882985:T:C 12 14882985 T C 12:15035919 0.98481 1773 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Tongue 0.000239 2.7225 0.741 Other and unspcified rosacea 0.0003019 16.371 4.53 MGP rs142330429 12:14885769:G:A 12 14885769 G A 12:15038703 0.999139 3309 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Keutel syndrome;not specified Panic disorder 0.00139 0.5917 0.1851 Biliary chirrosis, primary 0.003033 32.927 11.108 PTPRO rs117540301 12:15501640:A:G 12 15501640 A G 12:15654574 0.997426 5236 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemmorrhoids and perianal venous thrombosis 0.000316 0.4074 0.1131 Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 9.056e-05 31.97 8.167 PTPRO rs71459181 12:15508630:G:A 12 15508630 G A 12:15661564 0.978661 5240 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Meniscus derangement 0.00013 -0.2467 0.0645 0.001633 8.286 2.63 EPS8 rs7137185 12:15623230:A:C 12 15623230 A C 12:15776164 0.985958 915 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lesion of radial nerve 0.000116 3.5072 0.9097 EPS8 rs78763451 12:15624339:C:T 12 15624339 C T 12:15777273 0.932443 1586 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Complications associated with artificial fertilization 0.000373 3.8133 1.0717 Prepatellar bursitis 7.729e-05 29.921 7.57 EPS8 rs111934716 12:15624353:A:G 12 15624353 A G 12:15777287 0.992303 3603 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified corneal deformities and disorders 0.000358 1.5655 0.4386 0.001174 -1.524 0.47 EPS8 rs74888964 12:15631648:T:C 12 15631648 T C 12:15784582 0.995136 0.00763498 24 2781 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified !!!Vapaa-ajan tapaturmat 1.53e-05 3.9529 0.914 Maternal care for known or suspected fetal abnormality and damage 0.001272 8.007 2.485 EPS8 rs76688635 12:15647140:G:A 12 15647140 G A 12:15800074 0.915279 2074 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Nausea and vomiting 0.000371 0.6401 0.1798 Malignant neoplasm of kidney, except renal pelvis 0.001101 11.068 3.392 EPS8 rs71532816 12:15681258:T:C 12 15681258 T C 12:15834192 0.955408 1561 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Cerebral aneurysm, nonruptured 0.00153 1.4848 0.4684 Other joint disorders 0.0004523 2.101 0.599 PIK3C2G rs187352063 12:18562893:G:A 12 18562893 G A 12:18715827 0.993255 924 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Other and unspecified parts of small intestine (other cancers excluded from controls) 0.000285 4.9696 1.3695 Benign neoplasm: Other and unspecified parts of small intestine (other cancers excluded from controls) 0.000955 73.005 22.1 PDE3A rs201132768 12:20369580:A:C 12 20369580 A C 12:20522514 0.803345 0.00202511 4 740 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oesophageal varices 5.15e-05 4.6052 1.1374 Cardiovascular diseases (excluding rheumatic etc) 0.0005582 -2.271 0.658 PDE3A rs141457914 12:20369862:T:C 12 20369862 T C 12:20522796 0.946558 820 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of other and unspecified intrathoracic organs 0.000148 3.0039 0.7915 Other disorders of breast and lactation associated with childbirth 0.001696 53.014 16.889 SLCO1C1 rs144285413 12:20723234:C:T 12 20723234 C T 12:20876168 0.996697 11078 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bullous disorders 0.000376 0.6264 0.1761 Traumatic subarachnoid haemorrhage 1.191e-05 6.334 1.446 SLCO1B3 rs558592800 12:20855146:T:TAATTG 12 20855146 T TAATTG 12:21008080 0.981885 0.0245109 246 8759 pLoF recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 1 diabetes with peripheral circulatory complications 7.91e-05 1.126 0.2853 Macular hole 0.001114 4.636 1.422 SLCO1B3 rs4149117 12:20858546:T:G 12 20858546 T G 12:21011480 0.999831 65398 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 0.000282 0.0416 0.0114 Diabetic nephropathy 0.0003285 0.077 0.021 SLCO1B3 rs7311358 12:20862826:G:A 12 20862826 G A 12:21015760 0.999594 65333 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 0.000356 0.0409 0.0114 Diabetic nephropathy 0.0004843 0.074 0.021 SLCO1B3 rs60140950 12:20875274:G:C 12 20875274 G C 12:21028208 0.997103 0.108803 4510 35463 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications following infusion, transfusion and therapeutic injection 1.4e-05 0.9075 0.2089 Papulosquamous disorders 0.0002819 0.248 0.068 SLCO1B3 rs202234562 12:20901457:G:A 12 20901457 G A 12:21054391 0.989259 862 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Post-traumatic stress disorder 0.00021 2.3094 0.6231 RP11-545J16.1 rs188817665 12:21076479:G:A 12 21076479 G A 12:21229413 0.960241 787 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Localized scleroderma [morphea] 0.00026 8.2284 2.2527 SLCO1B1 rs2306283 12:21176804:A:G 12 21176804 A G 12:21329738 0.999746 90513 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Alzheimer's disease (Late onset) 0.000406 -0.1196 0.0338 Visual disturbances and blindness 0.000517 0.058 0.017 SLCO1B1 rs11045819 12:21176879:C:A 12 21176879 C A 12:21329813 0.999904 0.11235 4852 36424 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adjustment and management of implanted device 1.5e-05 0.2578 0.0596 Cardiac murmurs and other cardiac sounds 1.834e-05 0.655 0.153 SLCO1B1 rs4149056 12:21178615:T:C 12 21178615 T C 12:21331549 0.999876 59268 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder 0.000213 -0.3114 0.0841 In situ neoplasms (other cancers excluded from controls) 2.17e-05 0.228 0.054 SLCO1B1 rs34671512 12:21239042:A:C 12 21239042 A C 12:21391976 0.995509 14638 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rotor syndrome Persons with potential health hazards related to family and personal history and certain conditions influencing health status 0.00137 0.0933 0.0292 Hidradenitis suppurativa 0.001745 2.611 0.834 RECQL rs6499 12:21471612:C:G 12 21471612 C G 12:21624546 0.946871 942 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;not specified Contracture of joint 0.000184 6.4442 1.7229 Other symptoms and signs involving general sensations and perceptions 0.0003466 208.411 58.253 RECQL rs777214281 12:21486512:A:C 12 21486512 A C 12:21639446 0.967404 233 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other secondary coxarthrosis 0.000415 8.7575 2.4805 GYS2 rs117474773 12:21537012:A:G 12 21537012 A G 12:21689946 0.996365 894 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypoglycemia with deficiency of glycogen synthetase in the liver;not specified Anoxic brain damage 0.000289 6.2868 1.7342 Varus deformity, not elsewhere classified 0.0004588 166.96 47.652 GYS2 rs117639846 12:21537101:C:G 12 21537101 C G 12:21690035 0.998048 5144 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypoglycemia with deficiency of glycogen synthetase in the liver;not provided;not specified Conjunctivitis (acute, non atopic) 0.000218 0.3966 0.1073 Effects of other external causes 0.000194 22.78 6.112 GYS2 rs61733199 12:21542505:T:C 12 21542505 T C 12:21695439 0.982125 0.0451158 818 15757 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypoglycemia with deficiency of glycogen synthetase in the liver;not provided;not specified Outcome of delivery 4.81e-05 -0.224 0.0551 Other diseases of arteries and capillaries 0.0003965 1.377 0.389 GYS2 rs150433001 12:21542588:T:G 12 21542588 T G 12:21695522 0.994251 2638 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypoglycemia with deficiency of glycogen synthetase in the liver Effects of other external causes 0.000603 2.1348 0.6224 Congenital malformations of eye, ear, face and neck 0.0004955 13.532 3.885 GYS2 rs2306180 12:21560468:T:C 12 21560468 T C 12:21713402 0.995208 57131 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Obstructed labour due to maternal pelvic abnormality 0.000857 -0.1686 0.0506 Obstructed labour due to maternal pelvic abnormality 0.0006907 -0.101 0.03 GYS2 rs149533049 12:21575940:C:T 12 21575940 C T 12:21728874 0.994408 5441 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypoglycemia with deficiency of glycogen synthetase in the liver;not specified Anisometropia and aniseikonia 0.000129 1.4705 0.3842 Coeliac disease 0.0008927 2.983 0.898 KCNJ8 rs72554071 12:21765733:G:A 12 21765733 G A 12:21918667 0.982582 100 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of skin and subcutaneous tissue, not elsewhere classified 0.000803 3.7971 1.1328 ABCC9 rs61688134 12:21864476:C:T 12 21864476 C T 12:22017410 0.944738 906 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of intestine 0.000833 1.8904 0.5657 RASSF8 rs145936448 12:26065001:G:C 12 26065001 G C 12:26217934 0.978037 582 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tuberculosis 0.00115 2.304 0.7088 RASSF8 rs117015558 12:26065017:G:A 12 26065017 G A 12:26217950 0.994684 2884 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spontaneous rupture of synovium and tendon 0.00129 0.9159 0.2846 0.0007488 0.945 0.28 RASSF8 rs76879660 12:26065230:G:A 12 26065230 G A 12:26218163 0.983716 2310 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of eyelid 0.000424 0.4669 0.1325 Eosinophilic disease (BM) 0.0004029 186.663 52.757 ITPR2 rs35862420 12:26602630:C:T 12 26602630 C T 12:26755563 0.883177 113 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Tarsal tunnel syndrome 0.000249 39.9346 10.9006 ITPR2 rs61757114 12:26602684:A:C 12 26602684 A C 12:26755617 0.990058 346 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypertrophic cardiomyopathy 0.000558 5.2789 1.5297 DDX11 rs138980593 12:31083922:A:G 12 31083922 A G 12:31236856 0.928291 0.00696811 26 2534 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bronchiectasis 7.9e-05 1.2965 0.3284 Acute pharyngitis 0.0003985 12.653 3.573 DDX11 rs149257160 12:31084608:G:A 12 31084608 G A 12:31237542 0.974059 3420 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nerve, nerve root and plexus disorders 0.00138 -0.1961 0.0613 Other and unspecified injuries of abdomen, lower back and pelvis 0.00211 44.284 14.404 DDX11 rs2075322 12:31096927:C:G 12 31096927 C G 12:31249861 0.998407 89467 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral infections of the central nervous system 0.000434 0.1806 0.0513 Alergic contact dermatitis 0.0007944 0.108 0.032 DDX11 rs1046457 12:31103612:G:A 12 31103612 G A 12:31256546 0.998348 89955 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral infections of the central nervous system 0.000613 0.1754 0.0512 Alergic contact dermatitis 0.0008316 0.106 0.032 FGD4 rs2651369 12:32399835:C:G 12 32399835 C G 12:32552769 0.998382 90662 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of shoulder and upper arm 0.000114 -0.1709 0.0443 Communicating hydrocephalus 7.178e-05 0.408 0.103 FGD4 rs138160928 12:32619725:C:A 12 32619725 C A 12:32772659 0.987239 611 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Non-ischemic cardiomyopathy 0.000361 0.7206 0.202 FGD4 rs144693221 12:32625729:C:A 12 32625729 C A 12:32778663 0.973541 1419 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;not provided;not specified Transient global amnesia 0.000123 1.6271 0.4238 0.002349 -1.742 0.573 FGD4 rs61753359 12:32640381:G:A 12 32640381 G A 12:32793315 0.988711 538 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other lesions of median nerve 0.000263 4.9448 1.3551 DNM1L rs2272238 12:32707368:G:A 12 32707368 G A 12:32860302 0.999083 35473 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lethal Encephalopathy;not provided;not specified Schizoaffective disorder 0.00024 -0.271 0.0738 Open wound of thorax 0.00045 1.56 0.444 DNM1L rs150170255 12:32710974:G:A 12 32710974 G A 12:32863908 0.969679 379 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Low back pain 0.000809 -0.8283 0.2473 YARS2 rs199885274 12:32753937:G:A 12 32753937 G A 12:32906871 0.836669 105 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Wide developmental disorders (more controls excluded) 0.000385 18.0374 5.0811 YARS2 rs892080841 12:32754022:CT:C 12 32754022 CT C 12:32906956 0.987332 1038 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Urehtritis and urethral syndrome 0.000847 3.7949 1.1372 YARS2 rs11539445 12:32755303:C:A 12 32755303 C A 12:32908237 0.999606 35248 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myopathy, lactic acidosis, and sideroblastic anemia 2 Schizoaffective disorder 0.00016 -0.2793 0.074 Open wound of thorax 0.0004146 1.584 0.449 YARS2 rs149447502 12:32755771:G:T 12 32755771 G T 12:32908705 0.977543 249 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of middle ear and mastoid 0.000287 1.093 0.3014 PKP2 rs750119363 12:32796116:C:T 12 32796116 C T 12:32949050 0.996349 423 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intestinal infectious diseases 0.000278 -0.6176 0.1699 PKP2 rs146102241 12:32824092:C:T 12 32824092 C T 12:32977026 0.824032 21 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Evidence of alcohol involvement determined by blood alcohol level 0.00179 103.6456 33.1807 PKP2 rs147240502 12:32841124:A:C 12 32841124 A C 12:32994058 0.97405 7893 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9;Cardiomyopathy;Cardiovascular phenotype;not provided;not specified Somnolence, stupor and coma 0.000418 0.7939 0.225 Other juvenile arthritis 0.0001153 6.808 1.766 PKP2 rs200586695 12:32868983:C:G 12 32868983 C G 12:33021917 0.99592 758 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Migraine with aura 0.000806 1.0415 0.3108 PKP2 rs1046116 12:32869000:A:G 12 32869000 A G 12:33021934 0.999951 0.190883 13366 56762 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of hip and thigh 5.58e-05 0.4241 0.1052 Subjective visual disturbances 0.001428 0.178 0.056 PKP2 rs199957846 12:32869052:T:C 12 32869052 T C 12:33021986 0.950743 211 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chalazion 0.000308 3.9434 1.0929 PKP2 rs150821281 12:32878461:G:A 12 32878461 G A 12:33031395 0.958605 388 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Melanocytic naevi of upper limb, including shoulder 0.000435 7.9982 2.2737 PKP2 rs75909145 12:32896523:C:A 12 32896523 C A 12:33049457 0.997598 5790 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9;Cardiovascular phenotype;not specified Effects of other external causes 0.00105 1.2547 0.383 Adhesive capsulitis of shoulder 0.0011 2.905 0.89 PKP2 rs146708884 12:32896558:C:A 12 32896558 C A 12:33049492 0.996389 13466 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 9;Cardiovascular phenotype;not specified Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder 0.000578 -0.5834 0.1695 Trigeminal neuralgia 0.001528 2.05 0.647 PKP2 rs143004808 12:32896656:C:T 12 32896656 C T 12:33049590 0.957148 990 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of conjunctiva 0.000646 0.4576 0.1341 KIF21A rs75223821 12:39319974:C:A 12 39319974 C A 12:39713776 0.99894 11226 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital fibrosis of the extraocular muscles Other lesions of median nerve 0.000123 0.9328 0.2429 Other diseases of pericardium 0.001378 4.324 1.352 KIF21A rs149075970 12:39322698:G:C 12 39322698 G C 12:39716500 0.996216 384 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Cerebral meninges 0.001 3.0588 0.9297 KIF21A rs1176779343 12:39326328:C:CA 12 39326328 C CA 12:39720130 0.910992 5172 pLoF dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Any gastric operation 0.000175 -0.1188 0.0317 Benign neoplasm: Stomach 0.0001322 9.205 2.408 KIF21A rs150294289 12:39330250:A:G 12 39330250 A G 12:39724052 0.970168 116 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ohter specific/unspecified arthritis 0.00022 3.4983 0.9468 KIF21A rs142268373 12:39331694:T:C 12 39331694 T C 12:39725496 0.993755 1848 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital fibrosis of the extraocular muscles Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system 0.000932 3.1371 0.9477 0.0003345 1.335 0.372 KIF21A rs79089655 12:39341546:C:A 12 39341546 C A 12:39735348 0.994501 20684 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital fibrosis of the extraocular muscles Falls/tendenct to fall 0.000777 -0.322 0.0958 0.0004301 2.818 0.8 KIF21A rs78616703 12:39357413:C:G 12 39357413 C G 12:39751215 0.991678 511 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Otosclerosis 0.00324 1.8438 0.6264 LRRK2 rs78501232 12:40251273:G:A 12 40251273 G A 12:40645075 0.994108 7937 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Parkinson disease 8, autosomal dominant;not provided Follicular lymphoma 0.000841 0.869 0.2603 Focal epilepsy 0.0009032 6.287 1.894 LRRK2 rs7308720 12:40263898:C:G 12 40263898 C G 12:40657700 0.999736 21426 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson disease 8, autosomal dominant;not provided Visual impairment including blindness (binocular or monocular) 0.000578 0.3887 0.1129 Benign neoplasm: Skin of lip 0.001786 2.618 0.838 LRRK2 rs10878307 12:40278187:A:G 12 40278187 A G 12:40671989 0.999276 0.0341546 532 12016 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parkinson disease 8, autosomal dominant Abnormalities of heart beat 5.19e-05 0.2453 0.0606 Disorders of oesophagus in diseases classified elsewhere 0.0005895 5.893 1.715 LRRK2 rs35173587 12:40284011:G:T 12 40284011 G T 12:40677813 0.998922 1814 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Parkinson disease 8, autosomal dominant Panniculitis, unspecified 0.000372 4.6789 1.3145 Eosinophilia 0.001521 60.178 18.98 LRRK2 rs41286480 12:40304141:C:T 12 40304141 C T 12:40697943 0.963137 390 LC dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Right bundle-branch block 0.00201 5.0427 1.6325 LRRK2 rs7133914 12:40309109:G:A 12 40309109 G A 12:40702911 0.999901 21128 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parkinson disease 8, autosomal dominant Visual impairment including blindness (binocular or monocular) 0.000292 0.414 0.1143 Benign neoplasm: Skin of lip 0.001341 2.858 0.891 LRRK2 rs35507033 12:40313976:G:A 12 40313976 G A 12:40707778 0.983253 1760 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parkinson disease 8, autosomal dominant Otherdisorders of bone 0.000596 0.706 0.2056 0.0005043 2.006 0.577 LRRK2 rs33958906 12:40314059:C:T 12 40314059 C T 12:40707861 0.992136 37066 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinal detachment with retinal break 0.000124 -0.2266 0.059 Melanocytic naevi of other and unspecified parts of face (other cancers excluded from controls) 2.975e-05 0.809 0.194 LRRK2 rs33949390 12:40320043:G:C 12 40320043 G C 12:40713845 0.837138 591 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Parkinson disease 8, autosomal dominant Demyelenating diseases of the central nervous system 0.000331 2.3498 0.6546 Injury of muscle and tendon at shoulder and upper arm level 2.447e-05 7.915 1.876 LRRK2 rs35303786 12:40320097:T:C 12 40320097 T C 12:40713899 0.981659 2171 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson disease 8, autosomal dominant;not provided Sequelae of injuries, of poisoning and of other consequences of external causes 0.000222 0.6532 0.1769 Other diseases of liver 0.0002244 7.65 2.073 LRRK2 rs11564148 12:40320099:T:A 12 40320099 T A 12:40713901 0.997269 84848 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of porphyrin and bilirubin metabolism 0.00096 0.4631 0.1402 0.000133 -0.035 0.009 LRRK2 rs33995883 12:40346884:A:G 12 40346884 A G 12:40740686 0.994621 1779 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson disease 8, autosomal dominant;not provided Benign neoplasm: Ascending colon (other cancers excluded from controls) 0.000287 1.3962 0.385 Other abnormal findings in urine 7.944e-05 787.475 199.558 LRRK2 rs3761863 12:40364850:T:C 12 40364850 T C 12:40758652 0.992597 71019 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of ovary (other cancers excluded from controls) 0.000688 -0.1149 0.0339 Inflammatory disease of uterus 0.00109 -0.081 0.025 PRICKLE1 rs138452760 12:42460089:G:A 12 42460089 G A 12:42853891 0.983561 367 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lack of expected normal physiological development 0.0017 4.5997 1.4657 IRAK4 rs56338336 12:43772190:C:G 12 43772190 C G 12:44165993 0.977515 4160 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter IRAK4 deficiency Benign neoplasm: Rectum (other cancers excluded from controls) 0.0019 0.5385 0.1734 Peripheral artery disease 2.199e-05 3.453 0.814 IRAK4 rs55944915 12:43783708:G:A 12 43783708 G A 12:44177511 0.994291 1830 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter IRAK4 deficiency Dislocation, sprain and strain of joints and ligaments at neck level 0.00133 0.826 0.2573 Haemangioma, any site 0.0005268 13.772 3.973 IRAK4 rs4251545 12:43786492:G:A 12 43786492 G A 12:44180295 0.995247 24410 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter IRAK4 deficiency;not specified Labour and delivery complicated by umbilical cord complications 0.000214 0.5399 0.1458 Labour and delivery complicated by umbilical cord complications 0.0003212 1.662 0.462 ARID2 rs76994389 12:45849582:C:T 12 45849582 C T 12:46243365 0.988228 4080 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Non-invasive ventilation 0.000183 1.5591 0.4167 Epilepsy 0.0003784 2.742 0.771 RAPGEF3 rs145878042 12:47749532:A:G 12 47749532 A G 12:48143315 0.981776 4599 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.000357 0.6028 0.1688 Noninfective enteritis and colitis 0.0005427 2.021 0.584 HDAC7 rs139496736 12:47793509:G:C 12 47793509 G C 12:48187292 0.927097 0.00415092 6 1519 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis, primary, with knee surgery 1.52e-05 0.663 0.1533 Monoarthritis, not elsewhere classified 0.0007637 90.573 26.911 VDR rs2228570 12:47879112:A:G 12 47879112 A G 12:48272895 0.987353 0.627424 144608 85900 start_lost both drug response drug response reviewed by expert panel Criteria_multSubmitter Enlarged lymph nodes 6.87e-05 0.1436 0.0361 Enlarged lymph nodes 0.0002268 0.093 0.025 COL2A1 rs2070739 12:47974193:C:T 12 47974193 C T 12:48367976 0.994825 40048 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ankylosing spondylitis 0.00212 0.206 0.0671 Vertical strabismus 0.0003951 0.921 0.26 COL2A1 rs12721427 12:47974758:C:T 12 47974758 C T 12:48368541 0.997993 29782 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Stickler Syndrome, Dominant;Type II Collagenopathies;not specified Inflammatory disorders of breast 0.000483 -0.3689 0.1057 Injuries to the abdomen, lower back, lumbar spine and pelvis 0.0008264 0.288 0.086 COL2A1 rs34392760 12:47997874:T:A 12 47997874 T A 12:48391657 0.985414 0.0301344 352 10719 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Stickler Syndrome, Dominant;Type II Collagenopathies;not provided;not specified Other anxiety disorders 9.22e-05 0.2217 0.0567 Coxarthrosis, 3.85e-05 0.895 0.217 COL2A1 rs3803183 12:48004297:T:A 12 48004297 T A 12:48398080 0.99501 0.760025 212558 66666 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vitreous body and globe 2.47e-05 -0.0973 0.0231 Disorders of vitreous body and globe 6.901e-05 -0.056 0.014 SENP1 rs112688170 12:48088943:T:C 12 48088943 T C 12:48482726 0.997133 9946 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Blepharochalasis 0.000758 0.2695 0.08 0.0003868 0.949 0.268 PFKM rs11609399 12:48107378:A:T 12 48107378 A T 12:48501161 0.999382 0.233296 20200 65510 missense_variant recessive not provided not_provided no assertion provided none Iron deficiency anaemia 6.21e-05 0.1029 0.0257 Iron deficiency anaemia 0.0003012 0.123 0.034 PFKM rs2228500 12:48132929:G:A 12 48132929 G A 12:48526712 0.998322 43413 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-rheumatic valve diseases 0.000768 0.0905 0.0269 0.0004122 0.244 0.069 PFKM rs145040928 12:48140869:C:A 12 48140869 C A 12:48534652 0.982208 0.000860126 0 316 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Achalasia of cardia 9.78e-05 11.9144 3.0581 PFKM rs41291971 12:48145125:G:A 12 48145125 G A 12:48538908 0.9859 3165 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glycogen storage disease, type VII;not provided;not specified Other disorders of kidney and ureter 0.000801 0.7793 0.2324 Otitis externa, unspecified 0.001096 9.808 3.004 CCDC65 rs118060953 12:48905016:T:C 12 48905016 T C 12:49298799 0.968232 0.00121125 0 445 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Meniere disease 8.54e-05 2.959 0.7531 CCDC65 rs10747556 12:48914501:A:G 12 48914501 A G 12:49308284 0.998788 86935 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of trunk 0.000836 -0.15 0.0449 Other conjunctival vascular disorders and cysts 0.001269 0.304 0.094 CCDC65 rs79716342 12:48917004:C:A 12 48917004 C A 12:49310787 0.998646 32134 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia, primary, 27;not specified Migraine without aura 0.00104 -0.1604 0.0489 Aphakia 0.001403 1.421 0.445 CCDC65 rs78877829 12:48918757:C:T 12 48918757 C T 12:49312540 0.998642 32135 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia, primary, 27;not specified Migraine without aura 0.00104 -0.1604 0.0489 Aphakia 0.001403 1.421 0.445 CCDC65 rs117646559 12:48918898:G:T 12 48918898 G T 12:49312681 0.9796 1843 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 27 Other inflammatory liver diseases 0.00102 1.3323 0.4055 Benign neoplasm of brain and other parts of central nervous system (other cancers excluded from controls) 0.0001843 21.936 5.866 CCDC65 rs4760600 12:48921211:A:G 12 48921211 A G 12:49314994 0.998803 86991 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of trunk 0.000843 -0.15 0.0449 Diseases of the musculoskeletal system and connective tissue 0.001035 -0.025 0.008 CCDC65 rs117927481 12:48921417:G:A 12 48921417 G A 12:49315200 0.996045 4431 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 27 Benign neoplasm of male genital organs 0.00196 1.475 0.4764 Ulcerative colitis, NAS 0.0005789 5.515 1.603 WNT10B rs35034312 12:48966364:G:A 12 48966364 G A 12:49360147 0.988654 5863 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the skin and subcutaneous tissue 0.000135 0.2426 0.0636 Testicular dysfunction 0.0005668 13.477 3.91 WNT1 rs61758378 12:48979627:T:A 12 48979627 T A 12:49373410 0.974978 648 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute bronchiolitis 0.000394 2.7247 0.7688 KMT2D rs200315963 12:49032181:G:T 12 49032181 G T 12:49425964 0.834173 943 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Kabuki syndrome;not provided Open wound of forearm 0.000503 2.2744 0.6538 Unspesified nephritic syndrome 0.0079 12.914 4.862 KMT2D rs80132640 12:49032677:A:G 12 49032677 A G 12:49426460 0.997934 15288 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kabuki syndrome;not provided;not specified Generalized anxiety disorder 0.000404 0.3138 0.0887 Parapsoriasis 0.0003613 4.18 1.172 KMT2D rs73302195 12:49033095:C:T 12 49033095 C T 12:49426878 0.978062 0.000345684 0 127 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of fluid, electrolyte and acid-base balance 1.7e-05 3.9904 0.9279 KMT2D rs186696516 12:49033564:C:T 12 49033564 C T 12:49427347 0.997338 0.0238168 242 8508 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kabuki syndrome 1;not specified Specific personality disorders 5e-05 0.3146 0.0776 Symptoms and signs involving the digestive system and abdomen 8.104e-05 0.426 0.108 KMT2D rs112170602 12:49033712:G:C 12 49033712 G C 12:49427495 0.973467 179 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bronchiectasis 0.00023 6.5193 1.7698 KMT2D rs146044282 12:49034911:T:C 12 49034911 T C 12:49428694 0.993076 0.00197611 4 722 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kabuki syndrome;Kabuki syndrome 1;not provided;not specified Horner syndrome 1.95e-05 10.1151 2.3685 Unspecified diabetes without complications 0.001605 50.654 16.055 KMT2D rs75937132 12:49037164:T:C 12 49037164 T C 12:49430947 0.991022 5711 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kabuki syndrome;Kabuki syndrome 1;not specified Tobacco use 0.000776 1.2541 0.3731 0.0003812 1.53 0.431 KMT2D rs199547661 12:49038582:G:A 12 49038582 G A 12:49432365 0.981164 806 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of sclera, cornea, iris and ciliary body 0.000864 0.615 0.1846 KMT2D rs147706410 12:49039816:T:G 12 49039816 T G 12:49433599 0.997561 210 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Use of eye-antiallergens (taken as indicator of allergic/atopic conjunctivitis) 0.000657 1.2636 0.3709 KMT2D rs189888707 12:49040100:G:A 12 49040100 G A 12:49433883 0.958256 461 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes with peripheral circulatory complications 0.000154 7.1997 1.9021 KMT2D rs199628497 12:49040163:A:G 12 49040163 A G 12:49433946 0.909698 1140 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kabuki syndrome Family history of malignant neoplasm 0.000437 1.9673 0.5594 0.004944 -21.424 7.622 KMT2D rs833819 12:49040292:C:T 12 49040292 C T 12:49434075 0.90558 215 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Enlarged lymph nodes 0.000738 3.1691 0.9389 KMT2D rs3741626 12:49040626:G:A 12 49040626 G A 12:49434409 0.983012 4392 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kabuki syndrome;not specified Other papulosquamous disorders 0.0018 2.2393 0.7175 Disorders of mineral metabolism 9.271e-05 10.244 2.621 KMT2D rs201931833 12:49041037:G:C 12 49041037 G C 12:49434820 0.982996 752 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of sclera, cornea, iris and ciliary body 0.000894 0.6341 0.1909 KMT2D rs201190869 12:49041141:G:A 12 49041141 G A 12:49434924 0.964405 3438 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kabuki syndrome;Kabuki syndrome 1;not provided;not specified Intestinal infectious diseases 0.000486 -0.2076 0.0595 Single spontaneous delivery 0.0005349 0.954 0.275 KMT2D rs367762013 12:49043404:T:A 12 49043404 T A 12:49437187 0.966479 621 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of lower leg 0.000914 2.7336 0.8244 KMT2D rs184496763 12:49046300:C:T 12 49046300 C T 12:49440083 0.99698 0.000822019 0 302 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy examination and test 8.43e-05 1.9688 0.5007 KMT2D rs201623566 12:49050196:G:A 12 49050196 G A 12:49443979 0.99626 2595 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Dependent personality disorder 0.000438 1.9171 0.5452 Carcinoma in situ of breast, other/unspecified 0.001979 45.305 14.646 KMT2D rs75226229 12:49051245:G:A 12 49051245 G A 12:49445028 0.990935 0.0948616 3426 31425 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kabuki syndrome;not provided;not specified Universal eryhrodermia, KELA reimbursement 3.52e-05 1.0135 0.245 Aphakia 0.0003335 1.723 0.48 KMT2D rs202076833 12:49051609:G:T 12 49051609 G T 12:49445392 0.925812 0.00195978 6 714 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kabuki syndrome;not provided;not specified Disorder of external ear, unspecified 1.93e-05 6.6901 1.5658 Disorder of external ear, unspecified 0.0009453 87.963 26.605 KMT2D rs200088180 12:49051743:G:T 12 49051743 G T 12:49445526 0.857733 193 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Melanocytic naevi of eyelid, including canthus (other cancers excluded from controls) 0.00172 16.6904 5.3242 KMT2D rs55865069 12:49054680:C:T 12 49054680 C T 12:49448463 0.99792 15287 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kabuki syndrome;not specified Generalized anxiety disorder 0.000403 0.3138 0.0887 Parapsoriasis 0.0003613 4.18 1.172 TUBA1A rs61730859 12:49185844:C:T 12 49185844 C T 12:49579627 0.964177 449 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter All influenza (not pneumonia) 0.000449 1.8679 0.5322 TUBA1A rs112023543 12:49185856:A:G 12 49185856 A G 12:49579639 0.964177 449 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter All influenza (not pneumonia) 0.000449 1.8679 0.5322 TUBA1A rs697624 12:49185913:C:G 12 49185913 C G 12:49579696 0.997789 0.411584 62774 88437 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of penis 7.35e-06 -0.2075 0.0463 Other disorders of penis 0.0003243 -0.154 0.043 TUBA1A rs1143560 12:49185970:G:A 12 49185970 G A 12:49579753 0.992291 388 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Irritable bowel syndrome 0.00066 1.3445 0.3948 TUBA1A rs1056875 12:49186397:T:C 12 49186397 T C 12:49580180 0.997651 0.411968 62896 88456 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of penis 7.77e-06 -0.2069 0.0463 Other disorders of penis 0.0002996 -0.155 0.043 TUBA1A rs199717430 12:49186601:G:A 12 49186601 G A 12:49580384 0.992739 927 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lissencephaly, Dominant;not provided;not specified Disorders of synovium and tendon in diseases classified elsewhere 0.00139 4.1979 1.3133 Medical observation and evaluation for suspected diseases and conditions 3.488e-05 4.844 1.17 PRPH rs57451017 12:49295226:G:A 12 49295226 G A 12:49689009 0.999542 4743 missense_variant both not provided not_provided no assertion provided none not provided Osteoporosis 0.000477 0.4754 0.1361 Pregnancy with abortive outcome 0.0001255 1.457 0.38 PRPH rs58599399 12:49295621:G:T 12 49295621 G T 12:49689404 0.907024 1846 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Amyotrophic lateral sclerosis, susceptibility to;not provided;not specified Alcohol related diseases, tilastokeskus definition, death only 0.000542 1.3338 0.3856 Alcohol related diseases, tilastokeskus definition, death only 0.0003239 13.631 3.791 PRPH rs62636520 12:49297015:G:A 12 49297015 G A 12:49690798 0.999756 14069 missense_variant both not provided not_provided no assertion provided none not provided Diseases of inner ear 0.00221 -0.1346 0.044 Other disorders of veins 0.002124 0.595 0.194 PRPH rs73112142 12:49297274:G:A 12 49297274 G A 12:49691057 0.994003 7842 pLoF both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Hereditary ataxia 0.000305 1.7641 0.4885 Cellulitis 0.0003414 2.313 0.646 FAM186B rs140003810 12:49598939:G:A 12 49598939 G A 12:49992722 0.976408 720 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperplasia of prostate 0.00068 0.73 0.2149 BCDIN3D rs143608766 12:49843065:T:C 12 49843065 T C 12:50236848 0.986304 977 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oromandibular-limb hypogenesis spectrum Other and unspecified psoriasis 0.000656 2.2991 0.6747 0.0003059 -3.83 1.061 GPD1 rs35428353 12:50106288:G:A 12 50106288 G A 12:50500071 0.874282 75 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizophrenia 0.00123 5.8854 1.8207 DIP2B rs73093419 12:50674626:G:A 12 50674626 G A 12:51068409 0.986179 2269 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Other specified/unspecified dorsopathies 0.000178 2.0512 0.5471 Transport accidents 0.0007098 115.046 33.979 SCN8A rs117217073 12:51769039:C:T 12 51769039 C T 12:52162823 0.99341 0.0274206 302 9772 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Early Infantile Epileptic Encephalopathy, Autosomal Dominant;Early infantile epileptic encephalopathy;History of neurodevelopmental disorder;not specified Chronic kidney disease 9.62e-05 0.3401 0.0872 Abnormalities of breathing 0.0004223 0.516 0.146 SCN8A rs184568764 12:51794389:G:A 12 51794389 G A 12:52188173 0.995105 2287 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early infantile epileptic encephalopathy Complications of other internal prosthetic devices, implants and grafts 0.0039 1.7581 0.6091 Primary coxarthrosis, bilateral 0.0007224 4.874 1.442 ACVRL1 rs2277382 12:51912437:C:T 12 51912437 C T 12:52306221 0.995277 34508 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteoporosis 0.000489 0.1699 0.0487 Other headache syndromes 0.001559 -0.206 0.065 ACVRL1 rs753792569 12:51913984:A:C 12 51913984 A C 12:52307768 0.984775 357 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Undescended testicle 0.000408 12.2797 3.4739 ACVRL1 rs141653630 12:51918987:A:T 12 51918987 A T 12:52312771 0.939669 190 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Certain infectious and parasitic diseases 0.000667 -0.5808 0.1707 ACVRL1 rs706816 12:51919180:A:G 12 51919180 A G 12:52312964 0.993681 66675 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteoporosis 0.000181 0.1316 0.0351 Other menopausal disorders 0.000476 0.263 0.075 ACVRL1 rs139142865 12:51920826:C:T 12 51920826 C T 12:52314610 0.92891 237 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiovascular diseases (excluding rheumatic etc) 0.00107 -0.5824 0.178 GRASP rs73104710 12:52009214:C:T 12 52009214 C T 12:52402998 0.974467 5371 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute gastritis 0.00248 0.5699 0.1883 Residual foreign body in soft tissue 0.001475 8.837 2.779 GRASP rs200789033 12:52015095:G:A 12 52015095 G A 12:52408879 0.955655 3436 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anophthalmia - microphthalmia Background retinopathy and retinal vascular changes 0.000437 1.9288 0.5485 3.209e-05 6.223 1.497 KRT7 rs145797078 12:52233347:C:A 12 52233347 C A 12:52627131 0.968952 3633 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical abortion 0.000799 -0.2898 0.0864 Primary gonarthrosis, bilateral 6e-04 2.295 0.669 KRT7 rs145798781 12:52248642:C:T 12 52248642 C T 12:52642426 0.978417 1119 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at wrist and hand level 0.000197 1.3155 0.3533 KRT81 rs138597671 12:52288038:A:T 12 52288038 A T 12:52681822 0.978264 0.000487223 0 179 pLoF dominant Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Lichen simplex chronicus and prurigo 9.85e-05 8.0281 2.0616 KRT86 rs57242951 12:52302113:G:A 12 52302113 G A 12:52695897 0.936047 0.0066687 22 2428 missense_variant dominant not provided not_provided no assertion provided none not provided Persons encountering health services for examination and investigation 4.12e-05 -0.1785 0.0435 Other ill-defined and unspecified causes of mortality 0.0004277 152.909 43.411 KRT83 rs2857671 12:52314636:G:A 12 52314636 G A 12:52708420 0.997165 84121 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol abuse, main dg (more controls excluded) 0.000219 0.1388 0.0376 Crohn's disease of large intestine 0.0001975 -0.156 0.042 KRT83 rs148757217 12:52315338:C:G 12 52315338 C G 12:52709122 0.985318 689 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormalities of plasma proteins 0.000366 8.3194 2.3345 KRT83 rs2852464 12:52316937:G:C 12 52316937 G C 12:52710721 0.998539 0.333465 40746 81765 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins of other sites 5.52e-05 0.2074 0.0514 Varicose veins of other sites 0.000343 0.197 0.055 KRT83 rs2857667 12:52317765:G:T 12 52317765 G T 12:52711549 0.979346 2438 pLoF both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beaded hair;not provided Oher diseases of blood and blood-forming organs 0.000102 1.7022 0.438 Other disorders of cornea 0.0005968 13.405 3.905 KRT83 rs146753414 12:52317963:C:A 12 52317963 C A 12:52711747 0.993789 1984 pLoF both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beaded hair;not specified Congenital malformations of great arteries 0.000559 2.6186 0.7588 Migraine, single triptan purchase ok & required. ICD-code if available is included 0.0002029 5.56 1.497 KRT83 rs2857663 12:52319304:G:A 12 52319304 G A 12:52713088 0.99479 35399 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mood disorders (more controls excluded) 0.00112 0.0657 0.0202 Personal history of other diseases and conditions 9.574e-05 0.643 0.165 KRT85 rs61630004 12:52367173:C:T 12 52367173 C T 12:52760957 0.99872 9889 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ectodermal dysplasia, 'pure' hair-nail type;not provided;not specified Other and unspecified intracranial injuries 0.000173 1.0451 0.2782 Anxious personality disorder 0.0001601 8.836 2.341 KRT85 rs140664015 12:52367369:C:G 12 52367369 C G 12:52761153 0.988155 435 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter severe traumatic brain injury, does not include concussion 0.00169 1.498 0.4771 KRT75 rs2232387 12:52433824:C:T 12 52433824 C T 12:52827608 0.995899 33971 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.000664 0.2847 0.0836 Specific personality disorders 0.0006971 0.279 0.082 KRT6B rs61746355 12:52447390:C:T 12 52447390 C T 12:52841174 0.958736 0.0347426 472 12292 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified trigeminal disorders 2.1e-05 1.3985 0.3288 Dermatitis due to substances taken internally 0.0001925 2.209 0.592 KRT6A rs62617089 12:52488425:G:A 12 52488425 G A 12:52882209 0.993665 9303 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Anaemia in chronic diseases classified elsewhere 0.000196 1.6886 0.4535 Localized swelling, mass and lump of skin and subcutaneous tissue 0.0008826 1.198 0.36 KRT6A rs144401677 12:52491649:G:T 12 52491649 G T 12:52885433 0.983567 6527 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to opioids 0.000325 0.9913 0.2758 Alcohol-induced chronic pancreatitis 0.0006715 5.498 1.617 KRT5 rs11549949 12:52515088:C:T 12 52515088 C T 12:52908872 0.999326 41741 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Scar conditions and fibrosis of skin 0.000257 0.4044 0.1106 Endovascular or surgical operations to intracerebral aneurysms 0.001158 0.595 0.183 KRT5 rs11549950 12:52515133:T:C 12 52515133 T C 12:52908917 0.999349 41743 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Scar conditions and fibrosis of skin 0.000258 0.4042 0.1106 Endovascular or surgical operations to intracerebral aneurysms 0.001167 0.595 0.183 KRT5 rs1132948 12:52518984:C:T 12 52518984 C T 12:52912768 0.994887 41712 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Scar conditions and fibrosis of skin 0.000287 0.4021 0.1109 Endovascular or surgical operations to intracerebral aneurysms 0.001114 0.6 0.184 KRT5 rs17852231 12:52519086:A:G 12 52519086 A G 12:52912870 0.994567 41556 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Scar conditions and fibrosis of skin 0.000357 0.3963 0.111 Endovascular or surgical operations to intracerebral aneurysms 0.00101 0.61 0.186 KRT5 rs641615 12:52519125:G:T 12 52519125 G T 12:52912909 0.991209 0.242188 21940 67037 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of skin 2.21e-07 -0.1031 0.0199 Pterygium 0.0003024 0.484 0.134 KRT5 rs11170164 12:52519884:C:T 12 52519884 C T 12:52913668 0.997728 0.0966417 3400 32105 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysis bullosa simplex;not provided;not specified Malignant neoplasm of skin 1.34e-12 0.2055 0.029 Acne vulgaris 0.000305 0.754 0.209 KRT71 rs144618122 12:52544690:C:A 12 52544690 C A 12:52938474 0.953611 1510 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Divergent concomitant strabismus 0.000142 1.5728 0.4133 Pulmonary heart disease, diseases of pulmonary circulation 0.0004924 10.756 3.086 KRT71 rs34468387 12:52548217:G:A 12 52548217 G A 12:52942001 0.958824 467 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of abdomen, lower back and pelvis 0.000499 5.5411 1.5916 KRT74 rs142401177 12:52573480:C:T 12 52573480 C T 12:52967264 0.974782 7420 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular syndromes of brain in cerebrovascular disorders 0.00105 0.7822 0.2387 Superficial injury of neck 0.001234 9.739 3.014 KRT2 rs638043 12:52650483:C:T 12 52650483 C T 12:53044267 0.999734 0.116563 5018 37806 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Systemic sclerosis 2.16e-05 0.6459 0.152 Diseases of external ear 0.0007093 0.251 0.074 KRT2 rs769166546 12:52651839:A:AGCC 12 52651839 A AGCC 12:53045623 0.99387 70778 inframe_indel dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Vagina 0.000401 0.4579 0.1294 Hernia of abodminal wall, postoperative 8.793e-05 0.191 0.049 KRT2 rs141817495 12:52652085:G:A 12 52652085 G A 12:53045869 0.990781 923 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ichthyosis bullosa of Siemens Other abnormalities of plasma proteins 0.000957 6.4534 1.9539 Cleft lip and cleft palate 0.0004637 158.035 45.142 KRT1 rs14024 12:52675230:T:C 12 52675230 T C 12:53069014 0.999125 82868 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitamin deficiency 0.000552 -0.2374 0.0687 Hernia of abodminal wall, postoperative 7.711e-05 0.147 0.037 KRT1 rs1482415904 12:52675438:CACCTCCGGAGCCGTAGCTGCT:C 12 52675438 CACCTCCGGAGCCGTAGCTGCT C 12:53069222 0.997547 91308 inframe_indel both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of skin 0.000507 0.059 0.017 0.0005003 0.034 0.01 KRT1 rs17678945 12:52676390:C:A 12 52676390 C A 12:53070174 0.991944 0.0255534 258 9130 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bullous ichthyosiform erythroderma;Nonepidermolytic palmoplantar keratoderma;not provided Nonhereditary hypogammaglobulinemia 8.58e-05 1.8809 0.4789 Carcinoma in situ of skin of other and unspecified parts of face 0.0005557 3.746 1.085 KRT1 rs34787940 12:52680236:C:T 12 52680236 C T 12:53074020 0.842544 191 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system (other cancers excluded from controls) 0.000276 15.3558 4.2218 KRT4 rs201795280 12:52811817:C:T 12 52811817 C T 12:53205601 0.987832 2678 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter White sponge nevus of cannon Other arthrosis 0.000364 0.3808 0.1068 Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.0001503 22.562 5.952 KRT4 rs7959052 12:52811973:T:C 12 52811973 T C 12:53205757 0.994983 49541 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of liver 0.000353 0.1684 0.0471 Cervical root disorders 0.0002968 1.315 0.363 KRT8 rs57422427 12:52898859:C:T 12 52898859 C T 12:53292643 0.998474 6910 missense_variant recessive not provided not_provided no assertion provided none not provided Counselling related to sexual attitude, behaviour and orientation 0.000145 2.0889 0.5499 Tinnitus 0.001788 1.931 0.618 KRT8 rs58912304 12:52899801:C:A 12 52899801 C A 12:53293585 0.970385 501 missense_variant recessive not provided not_provided no assertion provided none Congenital malformations of the musculoskeletal system, not elsewhere classified 0.00105 9.8121 2.9946 KRT8 rs59536457 12:52904795:T:C 12 52904795 T C 12:53298579 0.991602 1862 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Continuous positive airway pressure 0.000372 0.7455 0.2095 Polyarteritis nodosa and related conditions 0.0007273 112.625 33.33 KRT8 rs11554495 12:52904798:C:A 12 52904798 C A 12:53298582 0.971161 0.00200878 4 734 missense_variant recessive Pathogenic, risk factor risk factor no assertion criteria provided no_Criteria Cirrhosis, cryptogenic;Cirrhosis, noncryptogenic, susceptibility to;not provided Perineal laceration during delivery 1.5e-05 1.9985 0.4617 Medical observation and evaluation for suspected diseases and conditions 1.387e-05 2.242 0.516 KRT18 rs58472472 12:52951512:G:C 12 52951512 G C 12:53345296 0.847371 0.00107788 0 396 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified bacterial intestinal infections 3.1e-06 5.5525 1.1905 SOAT2 rs149485045 12:53123094:G:A 12 53123094 G A 12:53516878 0.995796 3034 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter COPD 0.00106 0.3862 0.118 Lagophthalmos 0.0008196 92.342 27.597 CSAD rs80280748 12:53170473:C:T 12 53170473 C T 12:53564257 0.953853 474 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aneurysms, operations, SAH 0.000345 2.0009 0.5591 ITGB7 rs11539433 12:53192471:G:A 12 53192471 G A 12:53586255 0.995738 3482 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic ulcer of skin, not elsewhere classified 0.000128 1.3074 0.3413 Lichen sclerosus et atrophicus 0.001369 8.605 2.688 ITGB7 rs61754162 12:53192752:C:T 12 53192752 C T 12:53586536 0.992852 5484 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications following infusion, transfusion and therapeutic injection 0.00117 1.8923 0.5827 Other and unspecified disorders of white blood cells 0.001403 9.226 2.888 ESPL1 rs113469395 12:53293329:C:T 12 53293329 C T 12:53687113 0.976866 0.00413459 4 1515 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic ulcer of skin, not elsewhere classified 3.22e-05 2.3136 0.5565 Chondrocostal junction syndrome [Tietze] 0.0005137 146.919 42.297 HNRNPA1 rs182937540 12:54282620:G:A 12 54282620 G A 12:54676404 0.9636 1088 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhagic and haematological disorders of fetus and newborn 0.00319 4.0595 1.3768 Multiple myeloma and malignant plasma cell neoplasms 0.0009195 91.297 27.548 PDE1B rs151025806 12:54569358:C:T 12 54569358 C T 12:54963142 0.98967 2240 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adjustment and management of implanted device 0.000941 0.785 0.2373 Other gastritis (incl. Duodenitis) 0.000248 6.65 1.815 DCD rs36031159 12:54645251:C:T 12 54645251 C T 12:55039035 0.982574 4656 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burns and corrosions of multiple and unspecified body regions 0.000317 1.7768 0.4935 Herpesviral keratitis and keratoconjunctivitis 3.593e-05 14.526 3.515 METTL7B rs199581976 12:55681815:C:T 12 55681815 C T 12:56075599 0.953084 288 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kela-cod for severe mental illness 0.000164 1.8716 0.4966 ITGA7 rs17117883 12:55688241:G:C 12 55688241 G C 12:56082025 0.979259 8502 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Muscular Dystrophy, ITGA7-related;Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified Moderate visual impairment, binocular 0.000345 0.9658 0.2699 Mood disorders 1.991e-06 0.842 0.177 ITGA7 rs144983062 12:55693209:C:T 12 55693209 C T 12:56086993 0.982445 301 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Kela-cod for severe mental illness 0.000256 1.776 0.4858 ITGA7 rs149081471 12:55693284:C:T 12 55693284 C T 12:56087068 0.926219 773 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Muscular Dystrophy, ITGA7-related;Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not provided;not specified Oesophageal varices 0.000366 3.6328 1.0195 Bacterial meningitis 0.00369 24.418 8.41 ITGA7 rs1800974 12:55695573:C:T 12 55695573 C T 12:56089357 0.998985 85574 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism,other/unspecified 0.00016 -0.0469 0.0124 Hypothyroidism,other/unspecified 0.0001421 -0.033 0.009 ITGA7 rs150089409 12:55696955:C:T 12 55696955 C T 12:56090739 0.903672 87 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Toxic effect of contact with venomous animals 0.00032 14.4758 4.0223 ITGA7 rs74867235 12:55698884:C:T 12 55698884 C T 12:56092668 0.955146 9247 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Muscular Dystrophy, ITGA7-related;Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified Retinal detachments and breaks 0.000196 -0.2647 0.0711 Thyroiditis, unspecified 0.001128 9.872 3.032 ITGA7 rs17854601 12:55703100:C:A 12 55703100 C A 12:56096884 0.888805 1357 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Muscular Dystrophy, ITGA7-related;Muscular dystrophy, congenital, due to integrin alpha-7 deficiency;not specified Malignant neoplasm of liver and intrahepatic bile ducts 0.000838 3.2626 0.9769 Torticollis 0.0007859 118.254 35.219 ITGA7 rs11171663 12:55712110:G:A 12 55712110 G A 12:56105894 0.955853 4057 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of thyroid, IBD co-morbidities 0.000359 -0.4388 0.123 Other arrhytmias 0.002388 2.23 0.734 RDH5 rs62638195 12:55721281:A:G 12 55721281 A G 12:56115065 0.997528 0.0180436 110 6519 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pigmentary retinal dystrophy;not specified Infections of genitourinary tract in pregnancy 9.86e-05 0.994 0.2553 Substance abuse 0.0002729 1.229 0.338 MMP19 rs145965552 12:55837113:C:T 12 55837113 C T 12:56230897 0.906701 169 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyhydramnios 0.000408 7.6881 2.1749 MMP19 rs150724096 12:55837196:C:T 12 55837196 C T 12:56230980 0.942926 512 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other symptoms and signs involving the circulatory and respiratory systems 0.00182 3.2095 1.0293 MMP19 rs1056784 12:55839529:G:A 12 55839529 G A 12:56233313 0.918398 0.00304038 6 1111 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other intervertebral disc disorders 5.66e-05 0.4773 0.1186 0.0003137 228.964 63.536 PMEL rs17118154 12:55957193:C:G 12 55957193 C G 12:56350977 0.942589 195 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.00124 5.8111 1.7994 PMEL rs148568175 12:55957617:T:C 12 55957617 T C 12:56351401 0.993395 5765 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of eye and orbit 0.00128 0.4418 0.1372 Communicating hydrocephalus 0.0002974 19.138 5.29 SUOX rs141735896 12:56004018:C:T 12 56004018 C T 12:56397802 0.984272 186 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Atrial fibrillation and flutter with reimbursement 0.000342 1.7249 0.4817 SUOX rs76537761 12:56004747:G:A 12 56004747 G A 12:56398531 0.990925 408 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cystic kidney disease 0.000317 4.7388 1.316 ERBB3 rs56017157 12:56083757:C:T 12 56083757 C T 12:56477541 0.993913 2566 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Open wound of hip and thigh 0.00101 1.7971 0.5465 0.002963 33.535 11.285 SLC39A5 rs147572362 12:56231330:T:C 12 56231330 T C 12:56625114 0.980323 4467 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhagic and haematological disorders of fetus and newborn 0.000681 2.2449 0.6609 Other and unspecified local infections of skin and subcutaneous tissue 0.0001721 8.643 2.301 CS rs139054969 12:56273097:G:A 12 56273097 G A 12:56666881 0.955865 319 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of lower leg 0.000525 4.3097 1.2428 Lung transplantation 0.0005523 134.503 38.941 PAN2 rs117027379 12:56324597:C:T 12 56324597 C T 12:56718381 0.952988 2692 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pure hyperglyceridaemia 0.000206 3.0408 0.8192 Abnormal findings on examination of urine, without diagnosis 9.008e-05 31.134 7.951 STAT2 rs2229363 12:56343467:C:A 12 56343467 C A 12:56737251 0.982402 3040 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 44 Benign neoplasm of mouth and pharynx (other cancers excluded from controls) 0.000386 0.8144 0.2295 Other arrhytmias 0.0005138 2.737 0.788 STAT2 rs61754170 12:56343472:C:A 12 56343472 C A 12:56737256 0.963579 13642 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Cerebral meninges 0.000208 0.5004 0.1349 Other neurological diseases 0.0001888 0.538 0.144 STAT2 rs2066807 12:56346898:C:G 12 56346898 C G 12:56740682 0.995506 0.0545935 1012 19045 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immunodeficiency 44;not specified Psoriasis vulgaris 1.72e-05 -0.309 0.0719 Rheumatic fever incl heart disease 0.0002776 2.07 0.57 TIMELESS rs151146974 12:56417765:C:T 12 56417765 C T 12:56811549 0.985569 569 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of sclera, cornea, iris and ciliary body 0.00131 0.7068 0.2199 TIMELESS rs72478986 12:56433425:C:A 12 56433425 C A 12:56827209 0.996576 3384 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other symptoms and signs involving the urinary system 0.000361 1.039 0.2913 Abnormal serum enzyme levels 0.002187 3.076 1.004 MIP rs74641138 12:56454295:C:T 12 56454295 C T 12:56848079 0.98489 0.0436596 726 15314 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cataract;Cataract 15, multiple types;not specified Persistent mood disorders 4.51e-05 0.269 0.0659 2.747e-06 0.303 0.065 TAC3 rs733629 12:57012660:T:C 12 57012660 T C 12:57406444 0.999445 0.0998917 3820 32879 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizophrenia 2.93e-06 0.2696 0.0577 Seropositive rheumatoid arthritis 0.0006243 -0.305 0.089 MYO1A rs17119344 12:57029150:G:A 12 57029150 G A 12:57422934 0.999522 0.0991323 3758 32662 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schizophrenia 3.16e-06 0.2695 0.0578 ILD differential diagnosis 0.0005981 -0.085 0.025 MYO1A rs113470661 12:57031134:G:A 12 57031134 G A 12:57424918 0.992439 3107 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;not specified Rheumatic valve diseases 0.000188 1.796 0.481 Benign neoplasm: Oesophagus 0.001299 68.282 21.231 MYO1A rs151269703 12:57037571:T:A 12 57037571 T A 12:57431355 0.959813 2241 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;not specified Faecal incontinence 0.000389 1.2259 0.3456 Cervical root disorders 0.001945 45.195 14.586 MYO1A rs33962952 12:57037618:C:T 12 57037618 C T 12:57431402 0.990238 10400 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal dominant 48;Nonsyndromic Hearing Loss, Dominant;not specified Benign neoplasm: Descending colon (other cancers excluded from controls) 0.00112 0.6535 0.2005 Other skin changes 0.0004316 2.815 0.8 MYO1A rs151187460 12:57037948:G:C 12 57037948 G C 12:57431732 0.984745 299 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diabetes mellitus in pregnancy 0.000637 1.4366 0.4206 MYO1A rs55679042 12:57043335:C:T 12 57043335 C T 12:57437119 0.991507 1261 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal dominant 48;Nonsyndromic Hearing Loss, Dominant;not specified Other and unspecified dermatitis 0.00218 -0.4879 0.1592 Ill-defined and unknown causes of mortality 0.0004195 176.408 50.01 MYO1A rs121909305 12:57047675:G:A 12 57047675 G A 12:57441459 0.998342 1120 LC unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Deafness, autosomal dominant 48;Nonsyndromic Hearing Loss, Dominant;not provided;not specified Disorders resulting from impaired renal tubular function 0.000856 3.1919 0.9574 Glomerular diseases 0.0006366 11.755 3.442 MYO1A rs147101055 12:57047717:C:A 12 57047717 C A 12:57441501 0.998333 5781 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deafness, autosomal dominant 48;Nonsyndromic Hearing Loss, Dominant Status epilepticus 0.000169 1.2412 0.33 Sleep disorders (combined) 5.809e-05 1.222 0.304 NEMP1 rs79322678 12:57059916:C:T 12 57059916 C T 12:57453699 0.996788 6655 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presence of other functional implants 0.000293 -0.2605 0.0719 Supervision of normal pregnancy 0.0003332 1.14 0.318 NAB2 rs2233271 12:57091672:C:T 12 57091672 C T 12:57485455 0.983931 5977 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the skin and subcutaneous tissue 0.000422 0.2257 0.064 0.0001341 3.599 0.943 LRP1 rs35890409 12:57175556:G:A 12 57175556 G A 12:57569339 0.9733 0.00134191 4 489 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified reactive arthropathies 1.8e-05 4.109 0.9582 LRP1 rs113379328 12:57193256:G:A 12 57193256 G A 12:57587039 0.987475 1969 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of digestive organs (other cancers excluded from controls) 0.000152 0.5917 0.1562 Malignant neoplasm of small intestine (other cancers excluded from controls) 0.001089 78.51 24.035 LRP1 rs150340911 12:57193932:G:A 12 57193932 G A 12:57587715 0.993949 4943 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of skin of other and unspecified parts of face 0.00103 0.921 0.2805 Other and unspecified disorders of vitreous body 0.001591 1.954 0.619 LRP1 rs2229279 12:57197641:C:T 12 57197641 C T 12:57591424 0.993079 0.0209697 194 7510 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylopathies 6.73e-06 0.2138 0.0475 Atopic dermatitis, strict definition 0.0007536 1.611 0.478 STAC3 rs115276341 12:57244331:T:C 12 57244331 T C 12:57638114 0.878977 64 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of skin of scalp and neck (other cancers excluded from controls) 0.000139 50.562 13.2683 STAC3 rs201754072 12:57249124:A:C 12 57249124 A C 12:57642907 0.956897 185 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: other/unspecified salivary gland 0.000157 11.1057 2.9383 0.00267 57.001 18.979 STAC3 rs141938531 12:57249218:C:T 12 57249218 C T 12:57643001 0.951588 46 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected fetal abnormality and damage 0.000142 9.4135 2.4747 GLI1 rs149817893 12:57469650:C:T 12 57469650 C T 12:57863433 0.995075 1397 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other neurotic disorders 0.000186 1.7953 0.4803 Other and unspecified degenerative diseases of nervous system 0.001264 56.466 17.514 ARHGAP9 rs11544238 12:57476372:A:C 12 57476372 A C 12:57870155 0.994282 91690 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Hypothyroidism,other/unspecified 0.00114 0.039 0.012 2.515e-05 0.118 0.028 MARS rs113808165 12:57515034:G:A 12 57515034 G A 12:57908817 0.981232 4056 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease, axonal, type 2u;Interstitial lung and liver disease;not provided;not specified Unspecified diabetes 0.000133 0.5168 0.1352 Other and unspecified visual disturbances 0.001663 8.305 2.641 MARS rs199773459 12:57516272:G:A 12 57516272 G A 12:57910055 0.99461 2040 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Attention to artificial openings 0.000155 2.6913 0.7113 Benign neoplasm: Other and unspecified parts of small intestine (other cancers excluded from controls) 0.001758 52.009 16.625 DDIT3 rs112917609 12:57516883:C:T 12 57516883 C T 12:57910666 0.994667 931 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Occlusion and stenosis of arteries, not leading to stroke 0.00143 5.5991 1.7556 KIF5A rs143326964 12:57570019:G:C 12 57570019 G C 12:57963802 0.887239 186 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Suppurative otitis media, unspecified 0.00108 9.4176 2.8809 KIF5A rs113247976 12:57581917:C:T 12 57581917 C T 12:57975700 0.988369 0.0306488 374 10886 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;Spastic paraplegia 10;Spastic paraplegia, autosomal dominant;not provided;not specified Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs 4.59e-05 0.598 0.1467 0.001205 -0.339 0.105 B4GALNT1 rs17454674 12:57626799:G:A 12 57626799 G A 12:58020582 0.993205 5791 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;not provided;not specified Outcome of delivery 0.00104 -0.3015 0.0919 Dislocation, sprain and strain of joints and ligaments at neck level 0.002184 3.646 1.19 B4GALNT1 rs147301375 12:57628835:C:T 12 57628835 C T 12:58022618 0.988187 0.000568881 0 209 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Voice disturbances 6.22e-05 2.7241 0.6803 B4GALNT1 rs144922627 12:57629066:C:T 12 57629066 C T 12:58022849 0.997599 0.0203545 130 7348 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;not provided;not specified Any mental disorder, or suicide (or attempt), or psychic disorders complicating pregnancy, partum or puerperum or nerve system disorders 3.73e-05 0.1324 0.0321 Rheumatic fever incl heart disease 0.0004066 6.524 1.845 B4GALNT1 rs715930 12:57630198:C:A 12 57630198 C A 12:58023981 0.999029 0.209253 16266 60611 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthrosis 9.6e-06 0.0582 0.0131 Disorder of thyroid, unspecified 0.0002396 0.863 0.235 B4GALNT1 rs810205 12:57630495:C:G 12 57630495 C G 12:58024278 0.997776 13965 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;not specified Extreme obesity with alveolar hypoventilation 0.00117 0.687 0.2117 Separation of retinal layers (serosa) 0.0004365 2.831 0.805 B4GALNT1 rs774896 12:57632030:G:C 12 57632030 G C 12:58025813 0.999291 68841 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis 0.00015 0.0563 0.0148 Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs 0.0004087 0.252 0.071 OS9 rs547241583 12:57718274:GGATGAGGATGAA:G 12 57718274 GGATGAGGATGAA G 12:58112057 0.976663 421 inframe_indel unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disease of Bartholin gland 0.000502 5.4101 1.5547 CDK4 rs144657355 12:57749237:C:T 12 57749237 C T 12:58143020 0.979998 0.000552549 2 201 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chirrosis of liver, NAS 6.44e-05 11.1721 2.7957 CYP27B1 rs151335249 12:57764457:G:C 12 57764457 G C 12:58158240 0.997806 583 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Schizoid personality disorder 0.000657 3.2577 0.9562 TSFM rs201754030 12:57796461:C:T 12 57796461 C T 12:58190244 0.994424 0.0115437 0 4241 pLoF recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Puerperal sepsis 6.38e-05 1.2256 0.3065 AVPR1A rs113578517 12:63149913:G:T 12 63149913 G T 12:63543693 0.993513 3885 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Keratitis and keratoconjunctivitis in other diseases classified elsewhere 0.000665 1.3487 0.3962 Nystagmus and other irregular eye movements 0.003004 33.629 11.333 TMEM5 rs61935924 12:63780027:G:A 12 63780027 G A 12:64173807 0.982447 0.125083 5780 40174 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of liver 3.78e-05 0.1443 0.035 Malignant neoplasm of ovary 0.0008567 0.577 0.173 TMEM5 rs73122634 12:63781124:C:T 12 63781124 C T 12:64174904 0.9967 6865 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10;not provided;not specified Diseases of the eye and adnexa 0.00262 -0.0816 0.0271 Nutritional anaemias 0.0001417 1.61 0.423 SRGAP1 rs61754221 12:64127944:A:G 12 64127944 A G 12:64521724 0.988322 0.0166609 98 6023 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of ear 1.8e-05 0.1973 0.046 Sleep apnoea 0.0009348 1.13 0.341 TBK1 rs35635889 12:64488537:T:C 12 64488537 T C 12:64882317 0.960285 7884 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Frontotemporal dementia and/or amyotrophic lateral sclerosis 4;Glaucoma 1, open angle, p GI-bleeding 0.00196 0.2539 0.082 Suppurative and necrotic conditions of lower respiratory tract 0.0003638 6.662 1.869 TBK1 rs761540369 12:64495764:A:G 12 64495764 A G 12:64889544 0.815712 168 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary ovarian failure 0.00153 14.5664 4.5975 LEMD3 rs756800816 12:65169827:AGCCGCGGGACCAGCGGCGGCGGCG:A 12 65169827 AGCCGCGGGACCAGCGGCGGCGGCG A 12:65563607 0.964589 0.00252322 2 925 inframe_indel dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fibromyalgia 6.62e-05 3.3342 0.8357 LEMD3 rs374107839 12:65238526:A:G 12 65238526 A G 12:65632306 0.981948 0.00106427 0 391 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chronic mastoiditis 1.99e-05 8.2911 1.9437 IRAK3 rs760304982 12:66189300:A:G 12 66189300 A G 12:66583080 0.96415 1399 start_lost unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the musculoskeletal system and connective tissue 0.000747 -0.2082 0.0617 Leiomyoma of uterus 0.0005072 3.469 0.998 GRIP1 rs145115262 12:66379295:C:T 12 66379295 C T 12:66773075 0.939435 0.00228369 2 837 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Superficial injury of lower leg 8.2e-05 1.3693 0.3477 GRIP1 rs144494437 12:66392391:A:C 12 66392391 A C 12:66786171 0.996956 1069 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Alcohol related diseases, tilastokeskus definition 0.000181 0.5849 0.1562 Other and unspecified hydrocephalus 0.0006729 117.024 34.415 GRIP1 rs201867922 12:66444626:T:C 12 66444626 T C 12:66838406 0.987598 927 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at lower leg level 0.000297 1.3824 0.382 NUP107 rs34347775 12:68692017:G:A 12 68692017 G A 12:69085797 0.904164 147 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis of knee 0.00189 17.3589 5.5886 LYZ rs1800973 12:69350234:C:A 12 69350234 C A 12:69744014 0.997827 17046 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial visceral amyloidosis, Ostertag type Other functional intestinal disroders 0.000521 0.1561 0.045 Other symptoms and signs involving the digestive system and abdomen 0.0002693 0.957 0.263 LRRC10 rs151080979 12:69610255:A:G 12 69610255 A G 12:70004035 0.964604 4020 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dilated Cardiomyopathy, Dominant Other endocrine disorders 0.00039 1.1035 0.3111 Ectopic pregnancy 0.0002585 7.202 1.971 LRRC10 rs150202472 12:69610268:A:T 12 69610268 A T 12:70004048 0.985514 1174 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dilated Cardiomyopathy, Dominant Delirium, not induced by alcohol and other psychoactive substances 0.000132 1.8201 0.4761 General examination and investigation of persons without complaint and reported diagnosis 0 3.736 0 PTPRR rs144705265 12:70764673:G:A 12 70764673 G A 12:71158453 0.960465 359 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acne 0.00266 2.4408 0.8123 TSPAN8 rs17849952 12:71144171:C:T 12 71144171 C T 12:71537951 0.997611 8724 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of eyelid 0.00168 -0.2105 0.067 Chronic hepatitis, not elsewhere classified 5.355e-05 6.95 1.721 LGR5 rs117535164 12:71556627:A:G 12 71556627 A G 12:71950407 0.987867 865 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma/COPD (KELA code 203) 0.000984 -0.4634 0.1406 LGR5 rs138215571 12:71577986:C:G 12 71577986 C G 12:71971766 0.997274 2292 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personal history of certain other diseases 0.000431 3.681 1.0456 Carcinoma in situ of skin of other and unspecified parts of face (other cancers excluded from controls) 0.0002815 241.164 66.404 LGR5 rs146110108 12:71578805:G:A 12 71578805 G A 12:71972585 0.969389 9562 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other chronic obstructive pulmonary disease 0.00118 -0.2199 0.0678 Nerve, nerve root and plexus disorders 0.001375 0.489 0.153 LGR5 rs113809442 12:71584351:C:G 12 71584351 C G 12:71978131 0.99631 14431 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of lip (other cancers excluded from controls) 0.000106 1.5241 0.3932 Coronary angiopasty 0.0004646 0.584 0.167 ZFC3H1 rs767539150 12:71656953:C:T 12 71656953 C T 12:72050733 0.9928 328 missense_variant unknown Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Alzheimer's disease (Early onset) 0.00142 4.1341 1.2959 TPH2 rs17110563 12:71972526:C:T 12 71972526 C T 12:72366306 0.981369 188 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Other contact dermatitis 0.00111 4.4634 1.3682 BBS10 rs34737974 12:76346354:T:C 12 76346354 T C 12:76740134 0.999685 1056 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bardet-Biedl syndrome;not provided;not specified Progressive vascular leukoencephalopathy 0.000214 5.1549 1.3924 Benign neoplasm: Oesophagus (other cancers excluded from controls) 0.0004943 157.137 45.105 BBS10 rs35676114 12:76346369:G:A 12 76346369 G A 12:76740149 0.999565 20690 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bardet-Biedl syndrome;Bardet-Biedl syndrome 10;not specified Other appendicitis 0.000309 0.3313 0.0918 Ptosis of eyelid 0.001095 0.953 0.292 BBS10 rs142863601 12:76347561:C:T 12 76347561 C T 12:76741341 0.989384 4647 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bardet-Biedl syndrome;Bardet-Biedl syndrome 1;not provided;not specified Lesion of ulnar nerve 0.00276 0.4974 0.1662 Autism spe 0.001235 7.219 2.235 NAV3 rs61754965 12:78210477:A:G 12 78210477 A G 12:78604257 0.99786 4602 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Torticollis 0.000799 1.6207 0.4833 Other congenital malformations of tongue, mouth and pharynx 0.001299 67.787 21.077 OTOGL rs191608225 12:80222231:C:T 12 80222231 C T 12:80616011 0.970914 264 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Middle ear, nasal cavity and accessory sinuses (other cancers excluded from controls) 0.000482 7.4935 2.1467 OTOGL rs147195954 12:80238893:C:T 12 80238893 C T 12:80632673 0.920662 0.0011677 4 425 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Idiopathic gout 5.08e-05 5.154 1.2719 Hypertensive diseases (excluding secondary) 0 1.954 0 OTOGL rs200050988 12:80238950:C:T 12 80238950 C T 12:80632730 0.959131 1746 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Retained placenta and membranes, without haemorrhage 0.000265 1.41 0.3866 Other otitis externa (chronic) 0.0001223 16.316 4.247 OTOGL rs186616540 12:80238962:G:A 12 80238962 G A 12:80632742 0.923711 1340 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Congenital malformations of uterus and cervix 0.000355 3.8227 1.0703 Chlocystitis 0.0008196 10.727 3.206 OTOGL rs76420383 12:80262069:C:T 12 80262069 C T 12:80655849 0.9877 331 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of optic [2nd] nerve and visual pathways 0.000516 4.2764 1.2315 OTOGL rs199855270 12:80267318:C:T 12 80267318 C T 12:80661098 0.974339 0.00180463 6 657 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Unspecified abortion 1.67e-05 3.6341 0.8441 Mental and behavioural disorders due to sedatives or hypnotics 0.0008696 85.557 25.696 OTOGL rs10862089 12:80305695:G:T 12 80305695 G T 12:80699475 0.991717 22093 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Polyarhtrosis 0.000257 -0.2512 0.0687 Cholesteatoma of middle ear 0.001217 1.137 0.352 OTOGL rs117462138 12:80310704:A:G 12 80310704 A G 12:80704484 0.857605 0.000658704 0 242 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Labour and delivery complicated by intrapartum haemorrhage, not elsewhere classified 6.52e-07 22.5189 4.5263 OTOGL rs202085918 12:80313513:A:G 12 80313513 A G 12:80707293 0.950441 1174 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Other and unspecified intracranial injuries 0.000228 3.5938 0.9749 Anoxic brain damage 0.0001004 597.934 153.722 OTOGL rs61735664 12:80341957:A:G 12 80341957 A G 12:80735737 0.990057 0.0169467 136 6090 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Haemangioma, any site (other cancers excluded from controls) 9.04e-09 1.2219 0.2126 Family history of certain disabilities and chronic diseases leading to disablement 0.001605 8.441 2.675 OTOGL rs7312569 12:80353429:C:G 12 80353429 C G 12:80747209 0.999223 38742 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Subjective visual disturbances 0.000376 0.1619 0.0455 Toxic effect of alcohol 0.0003084 1.094 0.303 OTOGL rs7297767 12:80353462:A:G 12 80353462 A G 12:80747242 0.999735 0.827248 251538 52383 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tobacco use 5.95e-05 -0.4705 0.1172 Tobacco use 5.565e-05 -0.27 0.067 OTOGL rs145653077 12:80355852:G:A 12 80355852 G A 12:80749632 0.997625 12738 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Acute sinusitis 0.000654 0.1436 0.0421 Chrondropathies 0.0005816 1.304 0.379 OTOGL rs11836060 12:80356879:G:A 12 80356879 G A 12:80750659 0.99984 38998 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Subjective visual disturbances 0.000869 0.1512 0.0454 Toxic effect of alcohol 0.0003109 1.092 0.303 OTOGL rs2034528 12:80358880:A:G 12 80358880 A G 12:80752660 0.998326 11698 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Eustachian salpingitis and obstruction 0.0015 -0.4065 0.128 Blood alcohol or alcohol intoxication level 0.001386 -0.517 0.162 OTOGL rs11114416 12:80367631:G:T 12 80367631 G T 12:80761411 0.999264 38779 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Subjective visual disturbances 0.000481 0.1589 0.0455 Toxic effect of alcohol 0.0003077 1.094 0.303 OTOGL rs1551118 12:80367650:G:A 12 80367650 G A 12:80761430 0.999804 0.802914 237160 57821 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to lifestyle 3.75e-05 -0.2385 0.0579 Tobacco use 3.586e-05 -0.269 0.065 OTOGL rs1551122 12:80372020:A:G 12 80372020 A G 12:80765800 0.999596 79227 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tobacco use 0.000453 -0.3292 0.0939 Tobacco use 0.0001498 -0.235 0.062 OTOGL rs143495342 12:80377954:G:A 12 80377954 G A 12:80771734 0.98098 419 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonhereditary hypogammaglobulinemia 0.000448 13.1264 3.7396 PTPRQ rs60216135 12:80444395:C:T 12 80444395 C T 12:80838175 0.99831 10132 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other disorders of bladder 0.000584 -0.4424 0.1286 Other and unspecified psoriasis 0.0006429 3.533 1.035 PTPRQ rs78857302 12:80444784:C:T 12 80444784 C T 12:80838564 0.998312 10135 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other disorders of bladder 0.000578 -0.4426 0.1286 Other and unspecified psoriasis 0.0006429 3.533 1.035 PTPRQ rs368946018 12:80444830:AGTGACAACAAAT:A 12 80444830 AGTGACAACAAAT A 12:80838610 0.95241 3190 inframe_indel both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Examination and observation for other reasons 0.000104 0.3216 0.0829 malignant neoplasm of female genital organs 0.001204 4.093 1.264 PTPRQ rs61729287 12:80484531:C:G 12 80484531 C G 12:80878310 0.971079 6951 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Weight loss 0.000967 0.5988 0.1815 Injury of eye and orbit 0.002202 2.418 0.79 PTPRQ rs57971665 12:80484538:G:A 12 80484538 G A 12:80878317 0.997373 3949 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Maltreatment syndromes 0.00176 0.9988 0.3192 Other noninflammatory disorders of cervix uteri 0.0006417 11.417 3.345 PTPRQ rs10778752 12:80496050:T:A 12 80496050 T A 12:80889829 0.991722 0.860989 272530 43787 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes, wide definition 5.31e-06 0.0964 0.0212 Type 2 diabetes, wide definition 2.199e-06 0.056 0.012 PTPRQ rs12579151 12:80506602:T:C 12 80506602 T C 12:80900381 0.996738 3946 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic subdural haemorrhage 0.00152 0.6489 0.2047 0.0005037 -0.666 0.191 PTPRQ rs61729278 12:80539830:A:G 12 80539830 A G 12:80933609 0.996407 3948 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maltreatment syndromes 0.00172 1.0015 0.3195 Other noninflammatory disorders of cervix uteri 0.0006507 11.342 3.327 PTPRQ rs7975340 12:80541632:G:C 12 80541632 G C 12:80935411 0.996261 3948 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maltreatment syndromes 0.00172 1.0015 0.3196 Other noninflammatory disorders of cervix uteri 0.0006481 11.368 3.333 PTPRQ rs61729263 12:80588318:A:G 12 80588318 A G 12:80982097 0.986647 0.0156429 96 5651 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arrhytmias 9.73e-06 0.2811 0.0635 Other reactioin to severe stress, and adjustment disorders 0.001871 1.598 0.514 PTPRQ rs7963963 12:80613748:T:C 12 80613748 T C 12:81007527 0.997919 7112 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatitis due to substances taken internally 0.00029 0.6725 0.1856 Toxic effect of other and unspecified substances 0.0002576 20.106 5.502 MYF6 rs28928909 12:80708053:G:T 12 80708053 G T 12:81101832 0.98555 0.00174747 2 640 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lymphoid leukaemia (other cancers excluded from controls) 9.26e-05 4.1795 1.0691 MYF6 rs200372502 12:80708066:T:C 12 80708066 T C 12:81101845 0.960676 1388 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myopathy, centronuclear, 3 Conduction disorders 0.000339 0.771 0.2152 Toxic effect of contact with venomous animals 0.00119 69.518 21.447 MYF6 rs143677057 12:80708563:T:A 12 80708563 T A 12:81102342 0.931354 679 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other specified disorders of external ear 0.000101 4.7216 1.2142 Thyroiditis, unspecified 0.001687 203.603 64.832 ALX1 rs115440539 12:85280443:A:G 12 85280443 A G 12:85674221 0.990813 1303 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified disorders of external ear 0.00121 2.2699 0.7012 ALX1 rs145944049 12:85280451:C:T 12 85280451 C T 12:85674229 0.99583 544 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Other congenital malformations of face and neck 0.000199 5.3118 1.4279 Hernia 0 3.438 0 ALX1 rs115596276 12:85280452:G:T 12 85280452 G T 12:85674230 0.977325 1012 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Frontonasal dysplasia 3;not specified Convergence insufficiency and excess 0.000278 6.4541 1.7755 Enteropathic arthropathies 0.0005084 147.718 42.493 CEP290 rs117852025 12:88060951:A:G 12 88060951 A G 12:88454728 0.952546 365 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular diseases (excluding rheumatic etc) 0.000432 -0.4902 0.1393 CEP290 rs61941020 12:88079219:C:T 12 88079219 C T 12:88472996 0.960114 917 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bardet-Biedl syndrome;Joubert syndrome;Joubert syndrome;Leber congenital amaurosis;Meckel-Gruber syndrome;Meckel-Gruber syndrome;Nephronophthisis;Renal dysplasia and retinal aplasia;not provided;not specified Spontaneous rupture of synovium and tendon 0.000952 1.8339 0.555 Paralytic ileus 0.001461 60.24 18.929 CEP290 rs181121175 12:88087887:G:A 12 88087887 G A 12:88481664 0.96715 3390 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bardet-Biedl syndrome;Joubert syndrome;Joubert syndrome;Leber congenital amaurosis;Meckel-Gruber syndrome;Meckel-Gruber syndrome;Nephronophthisis;Renal dysplasia and retinal aplasia Other surgical follow-up care 0.000794 1.6638 0.496 0.0001279 -0.986 0.257 CEP290 rs372190684 12:88092700:G:C 12 88092700 G C 12:88486477 0.977907 548 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Herpesviral keratitis and keratoconjunctivitis 0.000317 3.925 1.0899 CEP290 rs11104738 12:88107070:T:C 12 88107070 T C 12:88500847 0.99366 26770 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bardet-Biedl syndrome;Joubert syndrome;Leber congenital amaurosis;Meckel-Gruber syndrome;Renal dysplasia and retinal aplasia;not provided;not specified Cervical root disorders 0.00053 0.9303 0.2685 Erythema nodosum 0.001273 1.29 0.4 CEP290 rs45465996 12:88111856:A:G 12 88111856 A G 12:88505633 0.969094 40297 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Volvulus 0.000748 0.4886 0.1449 Other inflammatory liver diseases 0.001384 0.505 0.158 CEP290 rs79705698 12:88114481:T:C 12 88114481 T C 12:88508258 0.999109 8375 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bardet-Biedl syndrome;Joubert syndrome;Joubert syndrome;Joubert syndrome 5;Leber congenital amaurosis;Meckel-Gruber syndrome;Meckel-Gruber syndrome;Nephronophthisis;Renal dysplasia and retinal aplasia;not provided;not specified Any death 0.000446 0.1704 0.0485 Malaise and fatigue 0.000708 1.1 0.325 CEP290 rs200211587 12:88121058:T:C 12 88121058 T C 12:88514835 0.969947 1295 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic sinusitis 0.000196 0.594 0.1595 CEP290 rs386834148 12:88121135:CAT:C 12 88121135 CAT C 12:88514912 0.904578 115 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Trochanteric bursitis 0.000678 4.9436 1.4548 CEP290 rs188164241 12:88125356:C:T 12 88125356 C T 12:88519133 0.955778 4969 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not provided;not specified Malignant neoplasm of respiratory system and intrathoracic organs 0.00318 0.4524 0.1534 Ulcer of lower limb, not elsewhere classified 0.0002496 5.96 1.627 CEP290 rs45502896 12:88129717:C:G 12 88129717 C G 12:88523494 0.991583 7930 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not provided;not specified Unspesified kidney failure 0.000461 0.6559 0.1873 Macular cyst 0.0006501 13.18 3.865 CEP290 rs373913704 12:88139519:C:T 12 88139519 C T 12:88533296 0.87405 189 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified mononeuropathies of upper limb 0.0019 7.4569 2.4009 TMTC3 rs77028313 12:88153436:A:G 12 88153436 A G 12:88547213 0.916377 0.0023218 4 849 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emotional disorders starting during childhood or adolecense 9.17e-05 2.9008 0.7416 Actinic keratosis 2.024e-05 12.433 2.917 KITLG rs41283112 12:88507114:C:A 12 88507114 C A 12:88900891 0.985015 0.0129972 66 4709 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Acute gastritis 4.54e-05 0.86 0.2109 Decubitus ulcer and pressure area 0.0009513 9.83 2.975 DUSP6 rs2279574 12:89351700:C:A 12 89351700 C A 12:89745477 0.999821 0.623183 143188 85762 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhage from respiratory passages 3.73e-05 0.0969 0.0235 Haemorrhage from respiratory passages 0.0003547 0.059 0.017 GALNT4 rs139995124 12:89523004:G:T 12 89523004 G T 12:89916781 0.972696 2371 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Olecranon bursitis 0.000163 1.5513 0.4115 Other viral diseases 2.769e-05 13.649 3.256 GALNT4 rs188465081 12:89523764:A:T 12 89523764 A T 12:89917541 0.995321 6474 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ill-defined and unknown causes of mortality 0.000313 1.1527 0.3198 Benign neoplasm: Conjunctiva (other cancers excluded from controls) 0.001324 9.451 2.943 KERA rs121917858 12:91055542:T:C 12 91055542 T C 12:91449319 0.994707 1497 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Cornea plana 2 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.000359 4.6802 1.3115 Senile cataract 0 6.263 0 CRADD rs4332566 12:93678925:C:A 12 93678925 C A 12:94072701 0.959094 162 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizoaffective disorder 0.000192 4.0789 1.0939 CRADD rs141179774 12:93850180:G:A 12 93850180 G A 12:94243956 0.987196 2029 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Mental retardation, autosomal recessive 34 Unspecified acute lower respiratory infection 0.000397 0.8401 0.2371 Mental retardation 6.324e-09 116.726 20.098 PLXNC1 rs34565975 12:94209630:G:C 12 94209630 G C 12:94603406 0.980841 4020 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diaphragmatic hernia 0.00137 -0.3541 0.1106 Other aneurysm 0.0002333 20.777 5.646 PLXNC1 rs115408156 12:94298702:T:A 12 94298702 T A 12:94692478 0.989826 2669 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Hyperkinetic disorders (more controls excluded) 0.00153 1.269 0.4003 Systemic atrophies primarly affecting the central nervous system 8.846e-05 51.741 13.198 TMCC3 rs149007412 12:94582053:C:T 12 94582053 C T 12:94975829 0.969049 2882 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD-related co-morbidities 0.000956 -0.139 0.0421 Presence of other functional implants 0.001665 3.466 1.102 NTN4 rs34684875 12:95787450:C:A 12 95787450 C A 12:96181228 0.980808 1034 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Allergic purpura 0.000882 2.7974 0.8411 Nystagmus and other irregular eye movements 0.0002892 251.571 69.403 HAL rs7297245 12:95980836:C:T 12 95980836 C T 12:96374614 0.99805 49835 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dorsopathies 0.000452 -0.0413 0.0118 Dorsopathies 0.00037 -0.024 0.007 HAL rs117991621 12:95986106:C:T 12 95986106 C T 12:96379884 0.984732 335 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Faecal incontinence 0.000925 3.1564 0.9529 HAL rs140891326 12:95990407:C:T 12 95990407 C T 12:96384185 0.982485 283 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Special screening examination for infectious and parasitic diseases 0.000479 1.3714 0.3927 LTA4H rs143721623 12:96029065:C:T 12 96029065 C T 12:96422843 0.966016 1771 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of thyroid gland (other cancers excluded from controls) 0.000523 1.4063 0.4054 Endometriosis of rectovaginal septum and vagina 0.0006639 11.137 3.272 ELK3 rs118124881 12:96247343:C:T 12 96247343 C T 12:96641121 0.984396 0.000500833 0 184 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified glaucoma 4.63e-05 9.4135 2.3108 ELK3 rs28444655 12:96247410:G:A 12 96247410 G A 12:96641188 0.959784 228 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Prurigo nodularis 0.000429 13.0688 3.7112 TMPO rs200420073 12:98527964:C:A 12 98527964 C A 12:98921742 0.996871 1591 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Postzoster neuralgia 0.000219 5.1914 1.4045 Sensorineural hearing loss 0.005391 3.716 1.335 TMPO rs139700737 12:98533078:G:A 12 98533078 G A 12:98926856 0.950389 403 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lesion of plantar nerve 0.000894 3.2683 0.9838 TMPO rs141443652 12:98533534:C:T 12 98533534 C T 12:98927312 0.99431 805 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Background retinopathy and retinal vascular changes 0.000441 4.4258 1.2594 TMPO rs34301677 12:98533686:G:A 12 98533686 G A 12:98927464 0.979674 310 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cleft lip and cleft palate 0.000769 10.8446 3.224 TMPO rs17459334 12:98534052:C:G 12 98534052 C G 12:98927830 0.998899 33702 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disturbance of activity and attention 0.000703 -0.3463 0.1022 Toxic effect of other and unspecified substances 0.0001116 2.01 0.52 TMPO rs17028450 12:98534325:C:T 12 98534325 C T 12:98928103 0.993932 688 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Small cell lung cancer 0.000538 6.8467 1.9783 TMPO rs7133258 12:98544517:G:C 12 98544517 G C 12:98938295 0.985827 14855 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Lymphoid leukaemia 0.000109 0.6633 0.1714 Pyothorax 0.0002329 3.762 1.022 APAF1 rs73142307 12:98677505:A:C 12 98677505 A C 12:99071283 0.99633 4628 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cutaneous abscess, furuncle and carbuncle 0.000885 -0.4069 0.1224 Impingement syndrome of shoulder 0.001192 2.77 0.855 APAF1 rs145807191 12:98706501:C:T 12 98706501 C T 12:99100279 0.984675 0.000685923 0 252 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 8.71e-05 0.7147 0.1821 APAF1 rs138188210 12:98725431:T:C 12 98725431 T C 12:99119209 0.99503 342 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Giant cell arteritis with polymyalgia rheumatica 0.00148 5.6035 1.7625 SLC17A8 rs11568530 12:100396399:G:A 12 100396399 G A 12:100790177 0.993999 618 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.00186 3.9097 1.2563 SLC17A8 rs138307707 12:100404104:G:T 12 100404104 G T 12:100797882 0.999478 1523 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Deafness, autosomal dominant 25 Hereditary retinal dystrophy 0.000261 4.0601 1.1121 Symptoms and signs involving the circulatory and respiratory systems 0.0004454 2.136 0.608 NR1H4 rs61755050 12:100532530:T:C 12 100532530 T C 12:100926308 0.961161 1304 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified conjunctival degenerations and deposits 0.00204 2.6401 0.856 Manic episode 0.0002846 334.24 92.104 GAS2L3 rs57012630 12:100624033:A:C 12 100624033 A C 12:101017811 0.990941 2589 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Any death 0.000168 0.3346 0.0889 Other noninflammatory disorders of cervix uteri 4.908e-05 33.655 8.289 GAS2L3 rs148236676 12:100624061:C:T 12 100624061 C T 12:101017839 0.98759 3170 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinal enthesopathy 0.000476 1.4252 0.4079 Other and unspecified injuries of abdomen, lower back and pelvis 0.00202 46.52 15.069 GAS2L3 rs61748063 12:100624283:C:T 12 100624283 C T 12:101018061 0.969747 774 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other cataract 0.00159 0.6829 0.2162 UTP20 rs117476305 12:101367975:A:G 12 101367975 A G 12:101761753 0.977448 7215 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to use of other stimulants, including caffeine 0.000256 0.9821 0.2686 Later onset COPD 5.807e-05 2.875 0.715 MYBPC1 rs3817552 12:101651385:C:G 12 101651385 C G 12:102045163 0.997096 50161 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertensive Heart Disease 0.00086 0.1236 0.0371 Barret oesophagus 0.0003122 0.675 0.187 CHPT1 rs79716906 12:101723803:T:C 12 101723803 T C 12:102117581 0.993113 2901 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Adrenal gland (other cancers excluded from controls) 0.000347 1.4597 0.408 Other and unspecified urticaria 0.0005374 12.914 3.731 GNPTAB rs150841760 12:101747225:C:T 12 101747225 C T 12:102141003 0.953893 0.000519886 0 191 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Postpartum care and examination 6.1e-05 3.7597 0.9378 GNPTAB rs76889468 12:101764986:G:A 12 101764986 G A 12:102158764 0.999402 9620 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mucolipidosis, Type II;Mucolipidosis, Type III Alpha/Beta;not specified Disorders of lacrimal system 0.000139 0.248 0.0651 Other congenital malformations of face and neck 0.0006277 5.766 1.686 GNPTAB rs1209353188 12:101766121:AG:A 12 101766121 AG A 12:102159899 0.960391 837 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Migraine without aura 0.000437 1.1387 0.3238 GNPTAB rs117566084 12:101796743:C:T 12 101796743 C T 12:102190521 0.937485 370 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Single delivery by caesarean section 0.000103 1.5975 0.4115 PAH rs5030858 12:102840493:G:A 12 102840493 G A 12:103234271 0.993244 309 missense_variant recessive Pathogenic (likely)Pathogenic reviewed by expert panel Criteria_multSubmitter Other complications of surgical and medical care, not elsewhere classified 0.000652 4.0523 1.1887 PAH rs62516152 12:102855154:C:T 12 102855154 C T 12:103248932 0.99199 177 missense_variant recessive Likely pathogenic (likely)Pathogenic reviewed by expert panel Criteria_multSubmitter Phenylketonuria;not provided Autoimmune thyroiditis 0.000535 14.1686 4.0921 Hereditary retinal dystrophy 0.0005895 133.76 38.925 STAB2 rs190465521 12:103652577:A:G 12 103652577 A G 12:104046355 0.98162 231 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bacterial pneumonia, not elsewhere classified 0.000143 1.7399 0.4575 STAB2 rs149524008 12:103654668:G:T 12 103654668 G T 12:104048446 0.975703 10247 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Low back pain 0.00155 0.1431 0.0452 Other contact dermatitis 0.0008996 2.276 0.685 STAB2 rs116894406 12:103745202:G:A 12 103745202 G A 12:104138980 0.991031 2386 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries of head 0.000583 1.5207 0.4421 Malignant neoplasm of lip, oral cavity and pharynx 0.0005049 148.926 42.818 STAB2 rs150613004 12:103749085:G:A 12 103749085 G A 12:104142863 0.991476 2406 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 0.00198 0.7988 0.2582 6.275e-05 -1.18 0.295 STAB2 rs150301267 12:103750648:C:T 12 103750648 C T 12:104144426 0.979947 591 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast and lactation associated with childbirth 0.000168 10.4726 2.7833 Type 1 diabetes, strict definition, subgroup 1 6.225e-05 718.754 179.504 TXNRD1 rs201402862 12:104313269:G:A 12 104313269 G A 12:104707047 0.992166 1086 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of cornea 0.00101 1.5599 0.4743 0 3.633 0 KIAA1033 rs199927759 12:105126319:T:C 12 105126319 T C 12:105520097 0.948379 492 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of breast 0.000149 10.7732 2.8398 CKAP4 rs118008684 12:106239095:A:C 12 106239095 A C 12:106632873 0.993948 0.0137675 98 4960 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Kidney (other cancers excluded from controls) 8.2e-05 1.6362 0.4154 0.0003824 17.781 5.006 POLR3B rs144161033 12:106444465:A:T 12 106444465 A T 12:106838243 0.994721 0.0264462 294 9422 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pol III-related leukodystrophy Any death 5.4e-05 0.1811 0.0449 Spondyloarthritis 0.0003646 1.62 0.454 POLR3B rs17038460 12:106454636:A:G 12 106454636 A G 12:106848414 0.988016 14673 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pol III-related leukodystrophy;not specified Lupus erythematosus 0.000268 0.8612 0.2363 Injury of nerves at lower leg level 0.0003389 7.126 1.989 RFX4 rs17038766 12:106761353:T:G 12 106761353 T G 12:107155131 0.826218 85 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Single delivery by caesarean section 0.00127 3.6242 1.1249 FICD rs77241670 12:108518622:A:C 12 108518622 A C 12:108912399 0.973631 1323 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other anxiety disorders 0.000641 0.5384 0.1577 Other bursitis, not elsewhere classified 0.0007354 103.609 30.69 ISCU rs558084375 12:108562632:G:C 12 108562632 G C 12:108956408 0.991277 0.00631213 18 2301 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Other disorders of nervous system 1.46e-05 1.8101 0.4176 Haemorrhage in early pregnancy 0.0001056 8.358 2.155 ISCU rs10778647 12:108562641:T:G 12 108562641 T G 12:108956417 0.99785 0.854162 268344 45465 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter All-cause Heart Failure 4.09e-05 0.0742 0.0181 All-cause Heart Failure 2.665e-05 0.043 0.01 ISCU rs10778648 12:108562642:T:G 12 108562642 T G 12:108956418 0.99785 0.854162 268344 45465 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter All-cause Heart Failure 4.09e-05 0.0742 0.0181 All-cause Heart Failure 2.665e-05 0.043 0.01 ISCU rs2287555 12:108562657:C:T 12 108562657 C T 12:108956433 0.997242 77114 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Acute nasopharyngitis(common cold) 0.00168 -0.1148 0.0365 Abscess of external ear 0.0007529 -0.253 0.075 TMEM119 rs144109867 12:108591873:G:A 12 108591873 G A 12:108985649 0.960851 0.0193038 104 6988 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glaucoma 2.59e-06 0.3304 0.0703 Fourth [trochlear] nerve palsy 0.0002977 18.248 5.045 SELPLG rs63748999 12:108623874:GGAGTGGTCTGTGCCTCCGTGGGCACTGGTT:G 12 108623874 GGAGTGGTCTGTGCCTCCGTGGGCACTGGTT G 12:109017650 0.992246 57893 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supervision of high-risk pregnancy 0.000643 -0.0812 0.0238 Brachial plexus disorders 0.000379 -0.312 0.088 SSH1 rs140151008 12:108805056:G:A 12 108805056 G A 12:109198832 0.946482 2100 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unsepcified mononeuropathies, also in other diseases 0.000184 2.1639 0.5786 Other viral diseases 8.523e-05 9.933 2.528 USP30 rs145382338 12:109067525:C:A 12 109067525 C A 12:109505330 0.994846 11758 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the digestive system and abdomen 0.000229 -0.0807 0.0219 Calcaneal spur 9.546e-06 10.681 2.413 UNG rs199956941 12:109098493:C:T 12 109098493 C T 12:109536298 0.990028 1179 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to life-management difficulty 0.000385 1.4573 0.4105 0.0001301 19.755 5.163 ACACB rs113524436 12:109235643:A:T 12 109235643 A T 12:109673448 0.979289 3845 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pustulosis palmaris et plantaris 0.000528 1.293 0.373 Specific development disorders of speech and language 0.0001699 23.261 6.186 ACACB rs144673785 12:109246234:G:A 12 109246234 G A 12:109684039 0.927869 0.00220475 4 806 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diabetes, wide definition 9.95e-05 0.4807 0.1235 Small cell lung cancer 0.0003626 175.307 49.162 MYO1H rs200532551 12:109401121:G:T 12 109401121 G T 12:109838926 0.982813 336 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary ovarian failure 0.00162 8.4949 2.6954 MYO1H rs117442521 12:109407855:T:A 12 109407855 T A 12:109845660 0.979503 5363 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tuberculosis 0.00057 0.6785 0.1969 Diseases of the ear and mastoid process 0.000149 0.699 0.184 MYO1H rs183967344 12:109411909:C:T 12 109411909 C T 12:109849714 0.996086 1174 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of parathyroid gland 0.000327 0.9337 0.2599 0.0008572 86.216 25.862 MMAB rs9593 12:109557065:A:T 12 109557065 A T 12:109994870 0.999279 0.475301 83002 91618 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of lens 2.18e-09 0.0735 0.0123 Medication related adverse effects (Asthma/COPD) 5.078e-06 0.041 0.009 MMAB rs10774775 12:109573425:C:T 12 109573425 C T 12:110011230 0.998186 0.298562 32718 76970 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Senile cataract 1.16e-10 0.0924 0.0143 Carpal tunnel syndrome 2.098e-05 0.088 0.021 MVK rs7957619 12:109576074:G:A 12 109576074 G A 12:110013879 0.999694 42535 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma, unspecified (mode) 0.00036 0.0939 0.0263 Urticaria 0.0008358 0.205 0.061 MVK rs104895321 12:109591301:C:T 12 109591301 C T 12:110029106 0.87109 327 missense_variant both not provided not_provided no assertion provided none Other diseases of upper respiratory tract 0.00174 -0.456 0.1456 MVK rs28934897 12:109596515:G:A 12 109596515 G A 12:110034320 0.960459 333 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Neurological diseases 0.000126 0.4784 0.1248 TRPV4 rs55728855 12:109783719:C:T 12 109783719 C T 12:110221524 0.993633 3957 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brachyolmia;Charcot-Marie-Tooth disease type 2C;Charcot-Marie-Tooth disease, type 2;Distal spinal muscular atrophy, congenital nonprogressive;Metatrophic dysplasia;Scapuloperoneal spinal muscular atrophy;Spondylometaphyseal dysplasia;not provided;not specified Intracranial injury 0.000594 0.2825 0.0823 Other specified and unspecified personality disorders 0.001091 9.979 3.056 TRPV4 rs116035946 12:109783739:T:C 12 109783739 T C 12:110221544 0.976688 0.00346772 12 1262 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brachyolmia;Charcot-Marie-Tooth disease type 2C;Charcot-Marie-Tooth disease, type 2;Distal spinal muscular atrophy, congenital nonprogressive;Metatrophic dysplasia;Scapuloperoneal spinal muscular atrophy;Spondylometaphyseal dysplasia;not specified Other disorders of urethra and urinary system 9.82e-05 0.4727 0.1214 Bullous pemphigoid 0.001325 65.442 20.383 TRPV4 rs56177950 12:109792792:C:T 12 109792792 C T 12:110230597 0.988708 6272 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brachyolmia;Charcot-Marie-Tooth disease type 2C;Charcot-Marie-Tooth disease, type 2;Distal spinal muscular atrophy, congenital nonprogressive;Metatrophic dysplasia;Scapuloperoneal spinal muscular atrophy;Spondylometaphyseal dysplasia;not provided;not specified Other specified disorders of muscle 0.000172 1.164 0.3099 Soft tissue disorders 0.0002974 0.616 0.17 TRPV4 rs541606391 12:109793528:AG:A 12 109793528 AG A 12:110231333 0.991238 995 pLoF dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Intestinal infectious diseases 0.00144 -0.3465 0.1087 TRPV4 rs199624080 12:109814595:G:A 12 109814595 G A 12:110252400 0.850539 0.000457282 2 166 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Flat foot [pes planus] (acquired) 1.26e-05 7.7502 1.7751 TRPV4 rs3742030 12:109814742:G:A 12 109814742 G A 12:110252547 0.994719 16527 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brachyolmia;Charcot-Marie-Tooth disease type 2C;Charcot-Marie-Tooth disease, type 2;Distal spinal muscular atrophy, congenital nonprogressive;Metatrophic dysplasia;Scapuloperoneal spinal muscular atrophy;Sodium serum level quantitative trait locus 1;Spondylometaphyseal dysplasia;not provided;not specified Conjunctivitis 0.000102 0.1287 0.0331 5.414e-05 -0.234 0.058 ATP2A2 rs55984131 12:110296601:A:G 12 110296601 A G 12:110734406 0.999971 6344 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Keratosis follicularis;not specified Perforation of tympanic membrane 0.000353 0.5782 0.1618 Perforation of tympanic membrane 3.774e-05 4.862 1.18 ATP2A2 rs149024535 12:110346286:C:T 12 110346286 C T 12:110784091 0.996295 5352 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Keratosis follicularis Acute pancreatitis 0.000166 0.4785 0.1271 Benign neoplasm: Skin of scalp and neck 0.0006738 13.08 3.847 TCTN1 rs76843552 12:110614414:G:C 12 110614414 G C 12:111052219 0.999331 6349 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;not provided;not specified Perforation of tympanic membrane 0.000373 0.5748 0.1615 Perforation of tympanic membrane 5.011e-05 4.577 1.129 TCTN1 rs1179582623 12:110632544:GATA:G 12 110632544 GATA G 12:111070349 0.92972 277 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Severe non-proliferative background diabetic retinopathy 0.00066 7.0434 2.0681 TCTN1 rs75714509 12:110642292:A:G 12 110642292 A G 12:111080097 0.999893 6405 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Joubert syndrome;Joubert syndrome;Meckel-Gruber syndrome;not provided;not specified Perforation of tympanic membrane 0.000277 0.5866 0.1613 Perforation of tympanic membrane 4.079e-05 4.783 1.166 TCTN1 rs118096349 12:110645031:G:T 12 110645031 G T 12:111082836 0.989375 4299 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Joubert syndrome;Meckel-Gruber syndrome;not specified Benign neoplasm: Transverse colon 0.000231 0.9646 0.262 Puerperal sepsis 0.0006169 12.508 3.653 CUX2 rs201485891 12:111347874:G:A 12 111347874 G A 12:111785678 0.980111 339 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormal uterine and caginal bleeding 0.00175 1.2305 0.3931 NAA25 rs79907395 12:112043707:C:T 12 112043707 C T 12:112481511 0.998577 1858 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of breast, intraductal (other cancers excluded from controls) 0.000945 1.3392 0.405 Injury of other and unspecified intrathoracic organs 0.0001491 24.697 6.512 PTPN11 rs201226824 12:112477729:T:C 12 112477729 T C 12:112915533 0.952517 627 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified enthesopathies, not elsewhere classified 0.000111 2.3649 0.6118 OAS1 rs1131454 12:112911065:G:A 12 112911065 G A 12:113348870 0.990923 85443 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Epilepsy 0.000375 0.0788 0.0222 Epilepsy 0.000159 0.058 0.015 OAS3 rs115666428 12:112950793:G:A 12 112950793 G A 12:113388598 0.982893 2335 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transient ischemic attack 0.000111 0.4602 0.1191 Pyothorax 0.0002265 20.242 5.49 OAS3 rs45607836 12:112963407:G:T 12 112963407 G T 12:113401212 0.97071 0.0045946 12 1676 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mouth breathing 2.15e-05 0.6338 0.1492 Dislocation, sprain and strain of joints and ligaments of lumbar spine and pelvis 0.0006755 106.893 31.445 RASAL1 rs146551951 12:113127832:G:A 12 113127832 G A 12:113565637 0.93767 2166 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries of head 0.00034 1.7449 0.487 Other congenital malformations of face and neck 0.001118 68.708 21.082 RASAL1 rs200723951 12:113135398:A:G 12 113135398 A G 12:113573203 0.95944 621 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Generalized epilepsy, strict edfinition 0.00081 1.8945 0.5656 TPCN1 rs144613390 12:113293011:C:T 12 113293011 C T 12:113730816 0.99866 14421 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chondrocostal junction syndrome [Tietze] 0.00182 0.6673 0.214 Crohn's disease of large intestine 2.768e-05 3.079 0.735 TBX5 rs28730762 12:114366149:G:A 12 114366149 G A 12:114803954 0.94877 1437 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Pain and other conditions associated with female genital organs and menstrual cycle 2e-04 0.908 0.2442 Otalgia 0.002312 40.328 13.236 TBX5 rs147977741 12:114366320:C:T 12 114366320 C T 12:114804125 0.971829 174 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colon adenocarcinoma (other cancers excluded from controls) 0.000623 3.9686 1.16 TBX5 rs77357563 12:114399544:C:A 12 114399544 C A 12:114837349 0.981907 569 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Convergent concomitant strabismus 0.000137 3.3897 0.889 TBX5 rs147710408 12:114399559:T:C 12 114399559 T C 12:114837364 0.948774 359 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Haemorrhagic and haematological disorders of fetus and newborn 0.000443 10.0929 2.8729 TBX3 rs763473739 12:114672230:A:C 12 114672230 A C 12:115110035 0.836778 0.000925452 0 340 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified diabetes with multiple/unspecified complications 5.76e-05 7.6863 1.9109 MED13L rs147863200 12:115991442:T:C 12 115991442 T C 12:116429247 0.954795 1683 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transposition of the great arteries, dextro-looped 1;not provided;not specified Peripheral angiopathy 0.000371 3.8608 1.0845 Cervicalgia 0.0009123 9.291 2.802 MED13L rs139048741 12:116007593:T:G 12 116007593 T G 12:116445398 0.980379 2643 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transposition of the great arteries, dextro-looped 1 Wide developmental disorders 0.000546 2.104 0.6086 Autism spe 4.782e-05 32.704 8.043 MED13L rs144410580 12:116009130:T:C 12 116009130 T C 12:116446935 0.994423 6934 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transposition of the great arteries, dextro-looped 1;not provided Nonorganic sleeping disorders 0.000568 0.4441 0.1289 Disorders of mineral metabolism 0.0009169 4.968 1.499 FBXW8 rs36021180 12:116949660:A:G 12 116949660 A G 12:117387465 0.979794 306 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumoconiosis due to asbestos and other mineral fibres 0.000103 11.4701 2.9537 FBXW8 rs3741466 12:117027459:C:T 12 117027459 C T 12:117465264 0.965769 577 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amenorrhoea 0.00105 2.2578 0.6892 NOS1 rs9658445 12:117253695:C:T 12 117253695 C T 12:117691500 0.994642 2049 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other other unspecified disorders of the circulatory system 0.000518 2.0134 0.58 Sexual dysfunction 0.001988 46.531 15.049 NOS1 rs79487279 12:117268129:T:A 12 117268129 T A 12:117705934 0.993681 1156 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of skin appendages 0.00105 0.5539 0.1691 NOS1 rs41356652 12:117272441:C:T 12 117272441 C T 12:117710246 0.975436 879 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gestational [pregnancy-induced] hypertension 0.000154 1.4087 0.3722 Acute peritonitis 0.00154 57.606 18.19 NOS1 rs9658356 12:117286213:T:G 12 117286213 T G 12:117724018 0.994923 2632 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supplementary factors related to causes of morbidity and mortality classified elsewhere 0.00199 1.4724 0.4761 Secondary polycythaemia 0.002255 41.631 13.63 KSR2 rs56214831 12:117539745:C:T 12 117539745 C T 12:117977550 0.913019 1117 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Urehtritis and urethral syndrome 0.000293 4.264 1.1775 Colon adenocarcinoma 3.611e-05 45.087 10.914 WSB2 rs115911603 12:118042916:T:C 12 118042916 T C 12:118480721 0.974608 352 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other gastritis (incl. Duodenitis) 0.000616 1.5836 0.4624 PEBP1 rs1050625 12:118144672:C:T 12 118144672 C T 12:118582477 0.987211 2415 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lipoprotein metabolism and other lipidaemias 0.00195 0.2857 0.0922 Generalized epilepsy, mode (most common among epilepsy diagnosis) 0.0002475 32.437 8.851 RP1-127H14.3 rs11610278 12:119700736:C:T 12 119700736 C T 12:120138541 0.993794 0.0192875 128 6958 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perineal laceration during delivery 4.73e-07 0.7732 0.1535 Medication related adverse effects (Asthma/COPD) 0.0006572 0.641 0.188 CIT rs145731510 12:119728602:T:C 12 119728602 T C 12:120166407 0.990203 376 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spinal stenosis 0.000335 1.1103 0.3096 Convalescence 0.003073 31.376 10.599 CIT rs56193743 12:119876143:C:T 12 119876143 C T 12:120313947 0.982609 1450 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other obstructed labour 0.000916 2.0074 0.6055 Hypersensitivity pneumonitis due to organic dust 0.002545 37.542 12.44 ACADS rs1800556 12:120737875:C:T 12 120737875 C T 12:121175678 0.996 0.0611506 1372 21094 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Deficiency of butyryl-CoA dehydrogenase;not provided;not specified Exophthalmic conditions 2.82e-05 1.3098 0.3128 Malignant neoplasm of larynx 0.0008061 3.314 0.989 ACADS rs1799958 12:120738280:G:A 12 120738280 G A 12:121176083 0.999845 71068 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified diabetes with multiple/unspecified complications 0.000491 -0.3 0.0861 Disturbances of smell and taste 0.0001235 0.39 0.102 HNF1A rs1169288 12:120978847:A:C 12 120978847 A C 12:121416650 0.996877 0.373404 51256 85928 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 1.55e-14 0.0775 0.0101 Statin medication 6.949e-11 0.065 0.01 HNF1A rs1800574 12:120979061:C:T 12 120979061 C T 12:121416864 0.998343 0.0427069 722 14968 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maturity onset diabetes mellitus in young;Monogenic diabetes;not provided;not specified Other diabetes, wide definition 5.87e-10 0.1703 0.0275 Benign neoplasms (other cancers excluded from controls) 1.285e-05 0.303 0.069 HNF1A rs201934320 12:120989027:C:T 12 120989027 C T 12:121426830 0.959122 216 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with other specified/multiple/unspecified complications 0.000308 1.0746 0.2978 HNF1A rs56348580 12:120994314:G:C 12 120994314 G C 12:121432117 0.992391 0.28321 29462 74586 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes 2.88e-12 -0.0877 0.0126 Other diabetes, wide definition 9.143e-07 -0.073 0.015 HNF1A rs58371019 12:120996827:C:CTCATTCAT 12 120996827 C CTCATTCAT 12:121434630 0.957762 57474 LC both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol use disorder, Swedish definition 0.000177 -0.0776 0.0207 Chromosomal abnormalities, not elsewhere classified 6.825e-05 0.36 0.09 HNF1A rs201039488 12:120996922:C:CA 12 120996922 C CA 12:121434725 0.976459 9838 LC both not provided not_provided no assertion provided none Polyneuropathies and other disorders of the peripheral nervous system 0.000275 0.3482 0.0957 Amyloidosis 8.926e-05 10.962 2.798 HNF1A rs2464196 12:120997624:G:A 12 120997624 G A 12:121435427 0.999145 0.300181 33042 77241 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 2.73e-10 0.0669 0.0106 Statin medication 3.078e-08 0.066 0.012 HNF1A rs2464195 12:120997672:G:A 12 120997672 G A 12:121435475 0.998984 0.354742 46296 84032 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 7.6e-09 0.0587 0.0102 Statin medication 3.146e-07 0.053 0.01 HNF1A rs1169304 12:120999418:T:C 12 120999418 T C 12:121437221 0.997813 56433 missense_variant both not provided not_provided no assertion provided none Alcohol use disorder, Swedish definition 0.000318 -0.0747 0.0208 Polyhydramnios 0.0001366 -0.208 0.055 P2RX7 rs35933842 12:121133096:G:T 12 121133096 G T 12:121570899 0.991671 843 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disturbances of skin sensation 0.000783 0.9826 0.2926 P2RX7 rs146725537 12:121167605:T:C 12 121167605 T C 12:121605408 0.983947 0.000557993 2 203 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other inflammatory liver diseases 9.11e-05 6.2333 1.5929 P2RX7 rs28360457 12:121175426:G:A 12 121175426 G A 12:121613229 0.984162 4493 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atherosclerosis, excluding cerebral, coronary and PAD 0.000187 -0.3656 0.0978 Specific development disorders of speech and language 0.002163 6.466 2.108 P2RX7 rs28360460 12:121184747:G:A 12 121184747 G A 12:121622550 0.962364 581 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Temporomandibular joint disorders 0.000695 1.5025 0.443 P2RX4 rs200492184 12:121210171:G:T 12 121210171 G T 12:121647974 0.969271 4737 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dorsopathies 0.000468 0.1325 0.0379 Other noninfective gastroenteritis and colitis 0.0008832 3.157 0.949 KDM2B rs575373073 12:121580827:CTG:C 12 121580827 CTG C 12:122018732 0.986884 753 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of meninges 0.000212 3.1744 0.857 KDM2B rs191586330 12:121580856:T:C 12 121580856 T C 12:122018761 0.971559 2202 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol abuse counselling and surveillance 0.000402 4.2522 1.2016 Prurigo nodularis 0.0016 59.653 18.902 ORAI1 rs375895928 12:121626882:G:GT 12 121626882 G GT 12:122064788 0.964729 2268 pLoF both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supplementary factors related to causes of morbidity and mortality classified elsewhere 0.000352 1.879 0.5258 Other specified disorders of kidney and ureter 0.00176 52.666 16.837 ORAI1 rs3741596 12:121641389:A:G 12 121641389 A G 12:122079295 0.992622 2029 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immune dysfunction with T-cell inactivation due to calcium entry defect 1;Myopathy, tubular aggregate, 2;not specified Other benign neoplasms of connective and other soft tissue 0.000601 1.0186 0.2969 Maternal care for other conditions predominantly related to pregnancy 0.0002677 6.539 1.794 HPD rs36023382 12:121839985:C:A 12 121839985 C A 12:122277891 0.994388 4284 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency;4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency;4-Hydroxyphenylpyruvate dioxygenase deficiency;Hypertyrosinemia Organic, including symptomatic, mental disorders 0.000236 0.3182 0.0865 Deviated nasal septum 0.0001162 3.513 0.912 HPD rs137852868 12:121839998:G:C 12 121839998 G C 12:122277904 0.961623 0.000514443 0 189 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Rheumatic fever incl heart disease 5.08e-05 9.347 2.3068 HPD rs149081239 12:121849707:C:T 12 121849707 C T 12:122287613 0.96898 0.000930896 0 342 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pregnancy, childbirth and the puerperium 5.75e-05 -0.66 0.164 HPD rs1154510 12:121857429:T:C 12 121857429 T C 12:122295335 0.999954 61536 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ganglion 0.00151 -0.1014 0.0319 Convalescence 0.001 0.14 0.043 HPD rs35849100 12:121858702:A:C 12 121858702 A C 12:122296608 0.928384 687 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other bullous disorders 0.00108 4.45 1.3618 WDR66 rs77540055 12:121934277:G:A 12 121934277 G A 12:122372183 0.997105 9175 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Congenital malformations of the circulatory system 0.000193 0.4555 0.1222 0.0006318 1.918 0.561 WDR66 rs78910014 12:121949042:G:A 12 121949042 G A 12:122386948 0.997247 9235 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Congenital malformations of the circulatory system 0.000246 0.4458 0.1216 0.0008136 1.831 0.547 ZCCHC8 rs139379402 12:122473634:T:C 12 122473634 T C 12:122958181 0.925293 2947 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mood disorders 0.000295 0.243 0.0671 Other symptoms and signs involving the circulatory and respiratory systems 0.0001127 26.425 6.843 C12orf65 rs78651634 12:123253718:G:A 12 123253718 G A 12:123738265 0.985416 3431 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined oxidative phosphorylation deficiency 7;Spastic paraplegia;not provided;not specified Panic disorder 0.000373 0.6555 0.1842 Toxic liver disease 0.002877 35.927 12.054 SBNO1 rs61760909 12:123320714:G:A 12 123320714 G A 12:123805261 0.978059 3779 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic ischaemia of muscle 0.000515 2.4252 0.6983 Disorders of brain, other and unspecified 0.002188 48.114 15.705 SBNO1 rs114314586 12:123321537:T:C 12 123321537 T C 12:123806084 0.865965 485 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gestational [pregnancy-induced] hypertension 0.00058 1.9201 0.5581 5.832e-06 -5.69 1.255 GTF2H3 rs11572913 12:123633862:G:A 12 123633862 G A 12:124118409 0.97896 497 start_lost unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of plantar nerve 0.000323 2.9157 0.8109 TCTN2 rs201140519 12:123679225:C:T 12 123679225 C T 12:124163772 0.954298 392 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Foreign body on external eye 0.000384 2.1893 0.6166 TCTN2 rs79251326 12:123686870:G:A 12 123686870 G A 12:124171417 0.992738 5447 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Meckel syndrome type 8;Meckel-Gruber syndrome;not specified Dislocation, sprain and strain of joints and ligaments at neck level 0.000293 0.5403 0.1492 Toxic effect of other and unspecified substances 0.0001324 25.142 6.578 ATP6V0A2 rs138716143 12:123744269:G:T 12 123744269 G T 12:124228816 0.998715 843 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Type of accident 0.000492 5.5434 1.5908 Coxarthrosis [arthrosis of hip](FG) 2.99e-06 2.934 0.628 ATP6V0A2 rs17883456 12:123756959:C:T 12 123756959 C T 12:124241506 0.986714 14781 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter ALG9 congenital disorder of glycosylation;Cutis laxa, recessive;not specified Motor neuron disease (with DMD) 0.000205 1.0834 0.2918 Other conjunctival vascular disorders and cysts 0.0003883 4.086 1.152 ATP6V0A2 rs75279884 12:123758010:A:G 12 123758010 A G 12:124242557 0.979095 3018 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cutis laxa, recessive;not specified Mixed conductive and sensorineural hearing loss 0.000693 0.7312 0.2156 Neurotic, stress-related and somatoform disorders 0.0003291 2.551 0.71 DNAH10 rs11057353 12:123781140:T:C 12 123781140 T C 12:124265687 0.996067 0.671269 165534 81082 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 4.4e-05 0.0493 0.0121 Hypo-osmolality and hyponatraemia 0.0003864 -0.09 0.025 DNAH10 rs10846559 12:123789927:A:G 12 123789927 A G 12:124274474 0.998692 0.692001 175906 78327 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bronchiectasis 1.88e-05 -0.2318 0.0542 Bronchiectasis 0.0001393 -0.135 0.035 DNAH10 rs148503528 12:123813327:A:G 12 123813327 A G 12:124297874 0.995508 7006 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.000818 -0.2917 0.0872 Crohn's disease patients in KELA-register (KELA code 209, or 208 with ICD K50) 0.0008205 5.156 1.541 DNAH10 rs117037408 12:123813530:C:T 12 123813530 C T 12:124298077 0.993035 2532 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Patellar tendinitis 0.00121 2.5581 0.7907 Idiopathic pulmonary fibrosis (attempt to specificity) 0.0001195 20.89 5.43 DNAH10 rs183923487 12:123838513:C:T 12 123838513 C T 12:124323060 0.993079 10239 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Blepharochalasis 0.000206 0.2911 0.0784 Left bundle-branch block 0.001165 2.721 0.838 DNAH10 rs4930729 12:123841430:T:G 12 123841430 T G 12:124325977 0.990311 36412 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perineal laceration during delivery 0.000564 0.2117 0.0614 Crohn's disease of small interstine 0.0004427 -0.167 0.048 DNAH10 rs34934281 12:123845764:C:T 12 123845764 C T 12:124330311 0.990515 30769 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Rectum, anus and anal canal (other cancers excluded from controls) 0.000876 -0.1943 0.0584 Palmar fascial fibromatosis [Dupuytren] 0.0004245 0.436 0.124 DNAH10 rs75173589 12:123848820:G:A 12 123848820 G A 12:124333367 0.942652 649 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Failed attempted abortion 0.000398 8.8871 2.5097 Phobic anxiety disorders 0.002752 30.504 10.188 DNAH10 rs33935373 12:123853225:C:T 12 123853225 C T 12:124337772 0.979127 13548 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified trigeminal disorders 0.000616 0.9923 0.2898 Pre-eclampsia or eclampsia 0.0004401 0.882 0.251 DNAH10 rs200400425 12:123864689:G:C 12 123864689 G C 12:124349236 0.979554 0.00134463 2 492 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyroiditis, unspecified 4.3e-05 10.1795 2.4884 DNAH10 rs202063832 12:123917794:C:T 12 123917794 C T 12:124402341 0.963413 2103 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General examination and investigation of persons without complaint and reported diagnosis 0.000468 0.294 0.084 Diseases of peritoneum 0.0006578 12.541 3.681 DNAH10 rs182918679 12:123928562:T:C 12 123928562 T C 12:124413109 0.99273 0.00280085 0 1029 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute suppurative otitis media 3.76e-05 0.9682 0.2349 DHX37 rs148973591 12:124947836:A:G 12 124947836 A G 12:125432382 0.98843 1117 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Left bundle-branch block 0.000756 2.2274 0.6613 General examination and investigation of persons without complaint and reported diagnosis 0 3.474 0 TMEM132B rs16919359 12:125652514:C:T 12 125652514 C T 12:126137060 0.996604 73480 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chirrosis of liver, NAS 0.0017 0.2788 0.0889 Chirrosis of liver, NAS 2.621e-05 0.472 0.112 TMEM132D rs140762080 12:129074683:G:A 12 129074683 G A 12:129559228 0.985285 2535 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of breast 0.000366 0.3874 0.1087 Perforation of tympanic membrane 0.001758 7.956 2.543 TMEM132D rs144217964 12:129082021:T:C 12 129082021 T C 12:129566566 0.962247 0.00862304 32 3136 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism, levothyroxin purchases 7.16e-05 -0.3255 0.082 Disorders of continuity of bone 0.0006296 12.744 3.728 TMEM132D rs78136296 12:129700509:A:T 12 129700509 A T 12:130185054 0.984611 0.00446939 4 1638 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Achilles tendinitis 8.83e-05 1.3022 0.3321 Dislocation, sprain and strain of joints and ligaments of elbow 0.002676 33.554 11.175 MMP17 rs143543400 12:131838267:C:A 12 131838267 C A 12:132322812 0.988818 402 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other mental disorders due to brain damage and dysfunction and to physical disease 0.000371 2.8423 0.7984 MMP17 rs139162290 12:131849915:A:G 12 131849915 A G 12:132334460 0.95384 870 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of meninges 0.000122 3.1586 0.8222 ULK1 rs74749868 12:131914459:C:G 12 131914459 C G 12:132399004 0.964385 3547 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tongue abnormality 0.000473 1.101 0.315 Other follicular disorders 0.0007952 11.8 3.518 ULK1 rs148651967 12:131916002:C:G 12 131916002 C G 12:132400547 0.884277 336 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type of accident 0.000548 11.9794 3.4662 ULK1 rs55815560 12:131916513:C:T 12 131916513 C T 12:132401058 0.983113 313 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other appendicitis 0.000478 3.1115 0.8908 Urethral stricture 0.002413 34.598 11.403 PUS1 rs76655496 12:131932268:G:A 12 131932268 G A 12:132416813 0.99862 410 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign mammary dysplasia 0.000731 1.7424 0.5159 PUS1 rs149378338 12:131941961:C:T 12 131941961 C T 12:132426506 0.994689 3073 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Hypersensitivity pneumonitis due to organic dust 0.000279 2.4291 0.6684 Spontaneous rupture of synovium and tendon 0.001009 10.196 3.101 EP400 rs117023015 12:131960876:A:G 12 131960876 A G 12:132445421 0.946718 4017 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD-related co-morbidities 0.000212 0.1318 0.0356 Nonischemic cardiomyopathy 6.673e-05 11.894 2.983 EP400 rs141312270 12:131982270:C:T 12 131982270 C T 12:132466815 0.932271 176 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.000173 2.3955 0.638 EP400 rs145263930 12:131982290:C:A 12 131982290 C A 12:132466835 0.993714 0.00439318 20 1594 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dissocial personality disorder 8.1e-06 3.9073 0.8756 5.718e-05 35.322 8.777 EP400 rs148078602 12:131982291:C:T 12 131982291 C T 12:132466836 0.992852 0.00437957 20 1589 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dissocial personality disorder 8.27e-06 3.8973 0.8742 5.717e-05 35.323 8.778 EP400 rs117348148 12:132013036:G:A 12 132013036 G A 12:132497581 0.982476 1157 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unstable angina pectoris 0.000108 0.8419 0.2174 Psychiatric comorbidites (Asthma/COPD) 0 2.531 0 EP400 rs142712946 12:132013513:A:G 12 132013513 A G 12:132498058 0.991129 2400 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other problems related to primary support group, including family circumstances 0.000139 0.9268 0.2432 Ptosis of eyelid 0.0001185 27.021 7.02 EP400 rs140367312 12:132064719:C:T 12 132064719 C T 12:132549264 0.924171 2554 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pollen allergy 0.000623 0.6346 0.1855 Trochanteric bursitis 0.0003685 14.833 4.165 P2RX2 rs75585377 12:132619451:C:T 12 132619451 C T 12:133196037 0.981835 2910 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Diabetic retinopathy 0.000775 0.5229 0.1555 !!!Vapaa-ajan tapaturmat 0.0004642 154.07 44.012 P2RX2 rs143664462 12:132619476:G:A 12 132619476 G A 12:133196062 0.989559 293 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of bladder 0.000475 3.5366 1.0121 P2RX2 rs201447971 12:132619888:C:A 12 132619888 C A 12:133196474 0.993744 0.00528869 8 1935 pLoF dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pleural plaque 9.74e-05 1.3732 0.3524 Trigeminal neuralgia 0.0009248 88.217 26.632 POLE rs73155056 12:132624795:T:A 12 132624795 T A 12:133201381 0.999211 8610 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome;not provided;not specified Hyperprolactinaemia 0.00101 -0.7473 0.2272 Keratoconus 0.0001773 8.875 2.367 POLE rs5745066 12:132626230:C:T 12 132626230 C T 12:133202816 0.975944 10418 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome;not provided;not specified Haemmorrhoids and perianal venous thrombosis 0.000514 0.2769 0.0797 Acute renal failure 0.00029 1.952 0.538 POLE rs767749736 12:132632760:C:T 12 132632760 C T 12:133209346 0.922802 0.000152427 0 56 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other disorders of male genital organs 3.06e-05 29.5746 7.0939 POLE rs201001790 12:132639135:G:A 12 132639135 G A 12:133215721 0.991 509 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified mononeuropathies of upper limb 0.000164 5.6083 1.4879 POLE rs142508245 12:132643252:C:T 12 132643252 C T 12:133219838 0.814204 125 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinal vein occlusion (central or branch) 0.00218 11.6447 3.8004 POLE rs41561818 12:132643868:G:A 12 132643868 G A 12:133220454 0.992944 4043 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome;not provided;not specified Failed attempted abortion 0.000965 2.1396 0.6483 Acute mastoiditis 0.002132 44.896 14.618 POLE rs5744934 12:132643940:T:C 12 132643940 T C 12:133220526 0.992179 16856 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;not provided;not specified Other abnormal uterine and caginal bleeding 0.00107 -0.1683 0.0514 0.002158 1.518 0.495 POLE rs141619382 12:132649021:T:C 12 132649021 T C 12:133225607 0.967085 598 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Biomechanical lesions, not elsewhere classified 0.000602 4.1558 1.2113 POLE rs200398117 12:132649449:C:T 12 132649449 C T 12:133226035 0.984106 317 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Macular cyst 0.00043 13.1186 3.7259 POLE rs147692158 12:132660983:C:T 12 132660983 C T 12:133237569 0.847988 261 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Substance abuse (more controls excluded) 0.000302 1.3724 0.3798 POLE rs201115064 12:132664027:C:T 12 132664027 C T 12:133240613 0.846129 169 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cauda equina syndrome 0.00151 17.869 5.6319 POLE rs115225325 12:132668394:C:T 12 132668394 C T 12:133244980 0.93891 0.000155149 0 57 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of male genital organs 3.87e-05 27.8936 6.7781 POLE rs36120395 12:132668439:G:C 12 132668439 G C 12:133245025 0.879178 272 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Statin medication 0.000224 -0.6937 0.188 POLE rs5744799 12:132668446:A:T 12 132668446 A T 12:133245032 0.98208 2912 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome;not provided;not specified Diabetic retinopathy 0.000771 0.5229 0.1555 !!!Vapaa-ajan tapaturmat 0.000467 150.658 43.058 POLE rs61732929 12:132677388:C:T 12 132677388 C T 12:133253974 0.984866 1471 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome;not provided;not specified Inflammatory disease of cervix uteri 0.00117 1.2392 0.3816 Acute and subacute iridocyclitis 0.0002927 6.543 1.806 POLE rs5744751 12:132677409:G:A 12 132677409 G A 12:133253995 0.999089 0.110268 4578 35933 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyphaema and other vascular disorders of iris and ciliary body 3.6e-05 0.764 0.1849 Hyphaema and other vascular disorders of iris and ciliary body 0.0006184 1.466 0.428 POLE rs143626223 12:132681203:G:A 12 132681203 G A 12:133257789 0.98667 466 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Burn and corrosion of head and neck 0.00132 5.8039 1.8067 POLE rs34047482 12:132681251:C:A 12 132681251 C A 12:133257837 0.988976 3065 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colorectal cancer, susceptibility to, 12;Hereditary cancer-predisposing syndrome;not provided;not specified Endometriosis of intestine 0.00108 3.0241 0.9253 Behavioural syndromes associated with physiological disturbances and physical factors 0.0008554 4.221 1.266 POLE rs202220778 12:132687300:C:G 12 132687300 C G 12:133263886 0.958305 304 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Kela-cod for severe mental illness 0.00056 1.8908 0.548 PXMP2 rs529562240 12:132701283:A:AG 12 132701283 A AG 12:133277869 0.968136 0.0022728 2 833 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other ulcerative colitis 8.52e-05 2.9249 0.7444 ANKLE2 rs201330179 12:132734469:G:A 12 132734469 G A 12:133311055 0.983661 118 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitiligo 0.00065 26.5734 7.7933 ANKLE2 rs200911469 12:132755103:C:T 12 132755103 C T 12:133331689 0.920726 310 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of gallbladder, biliary tract and pancreas 0.000195 0.801 0.215 GOLGA3 rs145501010 12:132801879:G:A 12 132801879 G A 12:133378465 0.930096 0.0016767 0 616 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personal history of other diseases and conditions 9.75e-06 3.1267 0.707 ZMYM5 rs143318146 13:19852035:G:C 13 19852035 G C 13:20426175 0.988297 4579 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other melanin hyperpigmentation 0.000328 1.8698 0.5206 Congenital malformations of uterus and cervix 0.0001891 22.706 6.082 ZMYM2 rs35516773 13:19993526:G:C 13 19993526 G C 13:20567666 0.98023 2674 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of ear 0.000349 0.2441 0.0683 Sensorineural hearing loss 7.395e-06 2.989 0.667 GJA3 rs149933083 13:20142891:C:T 13 20142891 C T 13:20717030 0.962939 3474 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Zonular Pulverulent Cataract;Zonular pulverulent cataract 3 Behavioural syndromes associated with physiological disturbances and physical factors 0.000672 0.4324 0.1271 Atypical facial pain 0.0002413 19.867 5.411 GJB2 rs111033186 13:20189125:C:T 13 20189125 C T 13:20763264 0.98197 1092 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal recessive 1A;Nonsyndromic Hearing Loss, Dominant;not provided;not specified Volvulus 0.00112 3.5747 1.0971 Vitamin deficiency 0.0003959 173.681 49.024 GJB2 rs111033218 13:20189333:G:C 13 20189333 G C 13:20763472 0.893195 0.00072403 0 266 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dependent personality disorder 9.27e-05 10.6869 2.7339 GJB2 rs72474224 13:20189473:C:T 13 20189473 C T 13:20763612 0.931716 504 missense_variant both Pathogenic (likely)Pathogenic reviewed by expert panel Criteria_multSubmitter Deafness, X-linked 2;Deafness, autosomal dominant 3a;Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A;Hearing impairment;Hystrix-like ichthyosis with deafness;Keratitis-ichthyosis-deafness syndrome, autosomal dominant;Keratoderma palmoplantar deafness;Knuckle pads, deafness AND leukonychia syndrome;Mutilating keratoderma;Nonsyndromic hearing loss and deafness;not provided Transient global amnesia 0.000515 2.578 0.7424 Arthrosis 0 3.678 0 GJB2 rs35887622 13:20189481:A:G 13 20189481 A G 13:20763620 0.964565 8062 missense_variant both Pathogenic (likely)Pathogenic reviewed by expert panel Criteria_multSubmitter Deafness, autosomal dominant 3a;Deafness, autosomal recessive 1A;Hearing loss;Hystrix-like ichthyosis with deafness;Keratitis-Ichthyosis-Deafness Syndrome;Mutilating keratoderma;Nonsyndromic Hearing Loss, Dominant;Nonsyndromic Hearing Loss, Recessive;Nonsyndromic hearing loss and deafness;not provided;not specified Melanocytic naevi of upper limb, including shoulder (other cancers excluded from controls) 0.000443 1.3154 0.3744 Sensorineural hearing loss 1.564e-11 1.529 0.227 GJB2 rs398123814 13:20189546:AC:A 13 20189546 AC A 13:20763685 0.990104 0.01156 52 4195 pLoF both Pathogenic (likely)Pathogenic reviewed by expert panel Criteria_multSubmitter Other disorders of ear 9.29e-05 0.2149 0.055 Sensorineural hearing loss 2.859e-28 6.485 0.588 GJB6 rs200674715 13:20222874:T:C 13 20222874 T C 13:20797013 0.990211 1359 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Anoxic brain damage 0.000232 5.142 1.3967 Other arterial embolism and thrombosis 0.0008747 93.913 28.219 GJB6 rs111033338 13:20222886:A:T 13 20222886 A T 13:20797025 0.99376 2396 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal dominant 3b;Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1b;Hidrotic ectodermal dysplasia syndrome;not specified Pemphigoid 0.000687 2.5385 0.7478 4.251e-05 2.208 0.539 GJB6 rs193292569 13:20223123:C:T 13 20223123 C T 13:20797262 0.985477 6130 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of the genitourinary system 0.000359 0.5602 0.157 Obstructed labour due to maternal pelvic abnormality 4.337e-05 4.544 1.111 IFT88 rs2442455 13:20615802:G:A 13 20615802 G A 13:21189941 0.9974 38975 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with ketoacidosis 0.000341 0.4853 0.1355 0.001892 -0.159 0.051 IFT88 rs9509307 13:20631053:G:A 13 20631053 G A 13:21205192 0.998377 0.739545 201116 70584 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular disorders of the intestines 3.2e-05 -0.2916 0.0701 Vascular disorders of the intestines 2.821e-05 -0.183 0.044 IFT88 rs148732064 13:20641320:A:T 13 20641320 A T 13:21215459 0.921539 161 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of cardiac and vascular prosthetic devices, implants and grafts 0.000292 14.9905 4.1384 MICU2 rs145503945 13:21502942:T:A 13 21502942 T A 13:22077081 0.96427 276 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seborrhoeic dermatitis 0.000361 3.8812 1.088 MICU2 rs145410850 13:21502943:T:A 13 21502943 T A 13:22077082 0.978802 374 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kyphosis 0.000281 15.5289 4.2751 SGCG rs17314986 13:23250679:G:A 13 23250679 G A 13:23824818 0.996855 44179 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other noninflammatory disorders of uterus, except cervix 0.000121 -0.1321 0.0344 Biomechanical lesions, not elsewhere classified 0.0004859 0.674 0.193 SGCG rs1800354 13:23324525:A:G 13 23324525 A G 13:23898664 0.997468 39001 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other strabismus 0.000425 -0.1457 0.0414 Other strabismus 0.0002409 -0.084 0.023 SACS rs34382952 13:23330159:T:G 13 23330159 T G 13:23904298 0.955423 428 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of stomach and duodenum 0.000782 3.2515 0.968 SACS rs17078601 13:23332844:G:C 13 23332844 G C 13:23906983 0.998977 0.0801006 2408 27020 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic ataxia Charlevoix-Saguenay type;Spastic paraplegia;not provided;not specified Polyarthropathies 1.59e-05 -0.1181 0.0274 Pneumonia, organism unsepcified 0.002389 -0.155 0.051 SACS rs17078605 13:23333770:A:G 13 23333770 A G 13:23907909 0.999852 67047 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other melanin hyperpigmentation 0.00071 0.4013 0.1185 0.0008065 -0.048 0.014 SACS rs192610957 13:23334904:C:T 13 23334904 C T 13:23909043 0.99849 0.00695994 14 2543 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spastic ataxia Charlevoix-Saguenay type;not provided Hepatic failure, not elsewhere classified 7.3e-05 2.3186 0.5846 Other/unspecified cytomegaloviral diseases 0.001375 63.879 19.963 SACS rs111540787 13:23335537:A:C 13 23335537 A C 13:23909676 0.997387 0.00424891 6 1555 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spastic ataxia Charlevoix-Saguenay type;Spastic paraplegia;not provided;not specified Lichen sclerosus et atrophicus 2.36e-07 2.6042 0.5038 Other and unspecified iron deficiency 6.898e-06 24.832 5.522 SACS rs142869943 13:23336711:C:T 13 23336711 C T 13:23910850 0.995839 1477 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spastic ataxia Charlevoix-Saguenay type Melignant neoplasm of mesothelium and soft tissue 0.00247 1.9596 0.6473 Other/unspecified synovitis and tenosynovitis 0.002454 6.797 2.244 SACS rs146722795 13:23337095:G:T 13 23337095 G T 13:23911234 0.970318 0.0194209 164 6971 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spastic ataxia Charlevoix-Saguenay type;Spastic paraplegia;not provided Internar derangement of knee 2.7e-06 -0.2218 0.0473 Hereditary corneal dystrophies 0.001221 9.86 3.049 SACS rs147517201 13:23338508:C:T 13 23338508 C T 13:23912647 0.855491 39 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other diseases of the digestive system 0.000519 5.1493 1.4836 SACS rs147099630 13:23339410:T:C 13 23339410 T C 13:23913549 0.99618 988 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Abnormality of brain morphology;Spastic ataxia Charlevoix-Saguenay type;Spastic paraplegia;not specified Hyperhidrosis 0.000612 3.4497 1.0069 Sixth [abducent] nerve palsy 0.001545 58.399 18.445 SACS rs146451611 13:23339800:A:G 13 23339800 A G 13:23913939 0.997109 2120 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spastic ataxia Charlevoix-Saguenay type;not provided;not specified Intestinal adhesions without obstruction 0.000361 1.2506 0.3506 Ovarian cyst 0.0001683 3.108 0.826 SACS rs144267558 13:23340449:G:T 13 23340449 G T 13:23914588 0.967207 410 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypotension 0.000495 2.1101 0.6058 SACS rs142967124 13:23340893:C:A 13 23340893 C A 13:23915032 0.964422 0.00117042 2 428 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dependent personality disorder 8.55e-05 6.8616 1.7467 SACS rs17325713 13:23354532:C:T 13 23354532 C T 13:23928671 0.993398 16148 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic ataxia Charlevoix-Saguenay type;Spastic paraplegia;not provided;not specified Other strabismus 0.000297 0.2329 0.0644 Type 2 diabetes with ophthalmic complications 0.0002843 1.206 0.332 SACS rs61729954 13:23355239:G:A 13 23355239 G A 13:23929378 0.983357 198 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Excessive vomiting in pregnancy 0.000604 7.1246 2.0773 SACS rs377027736 13:23355531:T:C 13 23355531 T C 13:23929670 0.977307 529 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute suppurative otitis media 0.000307 1.1466 0.3177 Other sleepdisorders 0.001748 45.293 14.47 SACS rs116907814 13:23355802:A:C 13 23355802 A C 13:23929941 0.995328 3044 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Communicating hydrocephalus 0.00158 2.1541 0.6816 Residual foreign body in soft tissue 0.0002408 20.086 5.47 SACS rs2031640 13:23355916:A:T 13 23355916 A T 13:23930055 0.999658 50270 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other heart diseases 0.000798 -0.0461 0.0137 Hypertensive diseases (excluding secondary) 0.000322 -0.088 0.024 MIPEP rs150308123 13:23730445:C:T 13 23730445 C T 13:24304584 0.960282 259 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other noninfective disordersof lymphatic vessels and lymph nodes 0.000449 7.8326 2.2319 MIPEP rs73158528 13:23756612:G:A 13 23756612 G A 13:24330751 0.946811 452 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other symptoms and signs involving cognitive functions and awareness 0.000463 1.0846 0.3098 RNF17 rs9507413 13:24799496:A:G 13 24799496 A G 13:25373634 0.976367 1797 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 0.00049 0.7883 0.2261 Other/unspecified synovitis and tenosynovitis 0.0001483 23.076 6.082 CENPJ rs144251950 13:24883274:G:A 13 24883274 G A 13:25457412 0.942307 108 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of the musculoskeletal system, not elsewhere classified 0.00076 24.4377 7.2579 CENPJ rs201774037 13:24884018:G:T 13 24884018 G T 13:25458156 0.97477 923 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Primary Microcephaly, Recessive;Seckel syndrome Presbycusis 0.000235 1.6836 0.4578 Kela-cod for severe mental illness 7.182e-06 5.338 1.189 CENPJ rs41300592 13:24885667:T:C 13 24885667 T C 13:25459805 0.990746 307 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathies, Primary/intrinsic 0.000247 2.3975 0.6541 CENPJ rs766258888 13:24899466:T:C 13 24899466 T C 13:25473604 0.898543 152 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.00131 18.7169 5.8251 CENPJ rs17402892 13:24905403:A:C 13 24905403 A C 13:25479541 0.999342 0.132672 6490 42252 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Foreign body on external eye 3.33e-06 -0.2313 0.0497 Allergic conjunctivitis 0.0002762 0.165 0.045 CENPJ rs151299406 13:24905606:A:T 13 24905606 A T 13:25479744 0.941515 104 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Conjunctivitis 0.000602 1.5825 0.4613 CENPJ rs9511510 13:24912773:G:T 13 24912773 G T 13:25486911 0.999358 0.132563 6470 42232 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Foreign body on external eye 3.59e-06 -0.2306 0.0498 Allergic conjunctivitis 0.0003433 0.163 0.045 CENPJ rs116981543 13:24912958:T:C 13 24912958 T C 13:25487096 0.998058 2134 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary Microcephaly, Recessive;Seckel syndrome;not specified Other Chron's disease 0.00236 1.0951 0.3601 Cervical root disorders 0.0006772 114.336 33.642 CENPJ rs35498994 13:24912965:T:A 13 24912965 T A 13:25487103 0.818323 1888 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary Microcephaly, Recessive;Primary autosomal recessive microcephaly 6;Seckel syndrome;not specified Benign neoplasm: Conjunctiva 0.00239 2.3128 0.7617 Paraplegia, diplegia of upper limbs 0.00258 145.408 48.248 CENPJ rs35498994 13:24912965:T:C 13 24912965 T C 13:25487103 0.994531 57994 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Premature separation of placenta [abruptio placentae] 0.000396 0.4062 0.1147 Pain in joint 0.0009715 -0.095 0.029 ATP8A2 rs202073376 13:25469058:C:T 13 25469058 C T 13:26043196 0.925015 160 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Tobacco use 0.000387 13.3111 3.7511 ATP8A2 rs35540339 13:25699239:G:A 13 25699239 G A 13:26273377 0.985078 10352 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Other retinal disorders 0.000331 0.1715 0.0478 Benign neoplasm: Long bones of lower limb 0.0001424 5.395 1.418 RNF6 rs150137875 13:26214257:G:T 13 26214257 G T 13:26788394 0.993103 1253 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of synovium and tendon 0.000325 0.509 0.1416 Isolated proteinuria 0.0014 62.254 19.487 RNF6 rs149013479 13:26215314:T:C 13 26215314 T C 13:26789451 0.941714 595 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral infections characterized by skin and mucous membrane lesions 0.000884 1.0156 0.3054 WASF3 rs151322145 13:26681265:C:G 13 26681265 C G 13:27255402 0.984373 1091 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Palmar fascial fibromatosis [Dupuytren] 0.000111 1.2352 0.3196 MTIF3 rs140262959 13:27440036:T:C 13 27440036 T C 13:28014173 0.995307 3807 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided malignant neoplasm of female genital organs 0.000311 0.4797 0.133 Other disorders of Eustachian tube 8.173e-05 33.983 8.627 POLR1D rs118191175 13:27665862:A:G 13 27665862 A G 13:28239999 0.98077 3694 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of the musculoskeletal system and connective tissue 0.000264 0.6968 0.191 Other disorders of conjunctiva 2.738e-05 7.683 1.832 PDX1 rs192902098 13:27920235:C:A 13 27920235 C A 13:28494372 0.957569 460 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Migraine, single triptan purchase ok & required. ICD-code if available is included 0.00142 -0.785 0.246 PDX1 rs199644078 13:27924565:C:A 13 27924565 C A 13:28498702 0.97612 2614 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monogenic diabetes;not provided;not specified Benign neoplasm: other/unspecified salivary gland 0.000182 2.1035 0.5621 Congenital malformations of the nervous system 0.0004747 140.586 40.229 FLT3 rs35602083 13:28049450:C:T 13 28049450 C T 13:28623587 0.958375 5814 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Noninfective enteritis and colitis 0.000106 -0.2864 0.0739 Other deformities of toe(s) 0.007362 6.436 2.401 FLT3 rs1933437 13:28050157:G:A 13 28050157 G A 13:28624294 0.999912 87726 missense_variant unknown not provided not_provided no assertion provided none Other articular cartilage disorders 0.000258 -0.292 0.0799 0.0004886 0.022 0.006 FLT3 rs146030737 13:28052579:C:T 13 28052579 C T 13:28626716 0.979215 1575 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Congenital malformations of the respiratory system 0.00228 3.4662 1.1362 Gluteal tendinitis 0.0006346 115.383 33.773 FLT1 rs140861115 13:28311623:G:A 13 28311623 G A 13:28885760 0.960414 759 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of gait and mobility 0.00121 1.8676 0.5771 TEX26 rs9533168 13:30968931:G:T 13 30968931 G T 13:31543068 0.976024 2996 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other deformities of toe(s) 0.000625 1.5146 0.4428 Cushing syndrome 0.001485 61.386 19.318 B3GLCT rs80338851 13:31269278:G:A 13 31269278 G A 13:31843415 0.992006 353 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gonarthrosis [arthrosis of knee](FG) 0.00074 0.6858 0.2032 B3GLCT rs34830061 13:31274581:G:A 13 31274581 G A 13:31848718 0.989205 1501 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peters plus syndrome;not provided;not specified Depression 0.000162 0.3684 0.0977 Vascular syndromes of brain in cerebrovascular disorders 0.0001746 51.302 13.669 B3GLCT rs34638481 13:31317606:G:A 13 31317606 G A 13:31891743 0.992769 8281 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peters plus syndrome;not specified Perforation of tympanic membrane 0.000103 0.5606 0.1443 Fracture of skull and facial bones 0.0006511 1.669 0.49 B3GLCT rs1041073 13:31317609:G:A 13 31317609 G A 13:31891746 0.99787 74285 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behavioural disorders due to opioids 0.000595 0.2627 0.0765 Mental and behavioural disorders due to opioids 0.00126 0.158 0.049 RXFP2 rs121918303 13:31777398:A:C 13 31777398 A C 13:32351535 0.955327 531 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Alzheimer's disease (Early onset) 0.000227 4.364 1.1838 RXFP2 rs149405381 13:31797272:G:A 13 31797272 G A 13:32371409 0.982167 357 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-invasive ventilation 0.000126 7.4578 1.9455 FRY rs41292163 13:32194291:G:A 13 32194291 G A 13:32768428 0.983317 5338 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal blood-pressure reading, without diagnosis 0.000273 1.299 0.3569 Meniere disease 0.0003106 4.209 1.167 FRY rs138780336 13:32202467:G:A 13 32202467 G A 13:32776604 0.993681 15486 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Depression 0.00224 -0.0914 0.0299 Other disorders of amniotic fluid and membranes 0.001416 1.088 0.341 FRY rs61946739 13:32225938:G:A 13 32225938 G A 13:32800075 0.960251 708 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified visual disturbances 0.000579 2.6493 0.7698 Contusion of toe(s) without damage to nail 0.0005006 152.872 43.923 FRY rs193120945 13:32239736:A:G 13 32239736 A G 13:32813873 0.923954 147 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectropion of eyelid 0.00145 10.2712 3.2251 FRY rs192351218 13:32254323:A:G 13 32254323 A G 13:32828460 0.993163 1342 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nontoxic single thyroid nodule 0.000273 1.5384 0.4227 Drug-induced osteoporosis with pathological fracture 0.0003495 162.02 45.313 BRCA2 rs4987046 13:32319134:A:G 13 32319134 A G 13:32893271 0.996064 1105 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Epidural haemorrhage 0.000171 7.1017 1.8897 BRCA2 rs766173 13:32332343:A:C 13 32332343 A C 13:32906480 0.991521 5389 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Chronic iridocyclitis 0.000309 1.0047 0.2785 Lesion of radial nerve 0.001088 10.316 3.158 BRCA2 rs28897706 13:32332456:C:A 13 32332456 C A 13:32906593 0.993586 571 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Wide developmental disorders (more controls excluded) 0.000403 5.373 1.5185 BRCA2 rs144848 13:32332592:A:C 13 32332592 A C 13:32906729 0.99988 66029 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Other systemic involvement of connective tissue 0.00116 0.0978 0.0301 Abnormal findings on examination of other body fluids, substances and tissues, without diagnosis 0.000507 -0.091 0.026 BRCA2 rs28897708 13:32332992:T:C 13 32332992 T C 13:32907129 0.991501 0.00122759 0 451 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Artificial opening status 5.25e-05 6.9258 1.7125 BRCA2 rs28897710 13:32333270:A:G 13 32333270 A G 13:32907407 0.995097 2863 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified Other diseases of anus and rectum 0.00131 0.4411 0.1373 Carcinoma in situ of breast, other/unspecified 0.0006721 86.234 25.357 BRCA2 rs755777807 13:32337239:C:T 13 32337239 C T 13:32911376 0.806198 115 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Visual field defects 0.000774 6.5828 1.9581 BRCA2 rs1799944 13:32337326:A:G 13 32337326 A G 13:32911463 0.992195 5405 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast carcinoma;Breast-ovarian cancer, familial 2;Familial cancer of breast;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Chronic iridocyclitis 0.000323 0.9987 0.2777 Lesion of radial nerve 0.001089 10.313 3.157 BRCA2 rs80358600 13:32337870:C:T 13 32337870 C T 13:32912007 0.995411 4430 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Paroxysmal tachycardia 0.000419 -0.3975 0.1127 Melanocytic naevi (other cancers excluded from controls) 0.001511 2.676 0.843 BRCA2 rs28897727 13:32338613:G:T 13 32338613 G T 13:32912750 0.961609 0.0172678 104 6240 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Conduction disorders 8.09e-05 -0.4021 0.102 Glaucoma, exfoliation 8.089e-05 5.687 1.443 BRCA2 rs4987117 13:32340099:C:T 13 32340099 C T 13:32914236 0.997823 4577 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast-ovarian cancer, familial 2;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified Carcinoid syndrome 0.00042 2.2535 0.6389 Social disorders starting during childhood or adolecense 0.0006844 116.1 34.19 BRCA2 rs79538375 13:32340140:A:G 13 32340140 A G 13:32914277 0.969185 510 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Other obstructive and reflux uropathy 0.000413 2.1766 0.6163 BRCA2 rs80358881 13:32340810:C:A 13 32340810 C A 13:32914947 0.99116 0.0020115 0 739 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Rheumatoid arthritis 4.94e-05 1.0462 0.2578 BRCA2 rs55712212 13:32341176:G:T 13 32341176 G T 13:32915313 0.991531 4158 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not specified Disorders of orbit 0.000128 1.327 0.3465 Other and unspecified hydrocephalus 0.002425 39.856 13.143 BRCA2 rs1379054137 13:32354974:A:G 13 32354974 A G 13:32929111 0.844149 147 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dysplasia of cervi uteri 0.000666 2.3713 0.6968 BRCA2 rs28897744 13:32356536:C:T 13 32356536 C T 13:32930673 0.996281 399 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Psychiatric diseases 0.00223 -0.4154 0.1359 BRCA2 rs28897747 13:32363351:G:T 13 32363351 G T 13:32937488 0.941023 335 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 0.000258 0.5744 0.1572 BRCA2 rs28897749 13:32363384:G:A 13 32363384 G A 13:32937521 0.970661 595 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Postprocedural musculoskeletal disorders, not elsewhere classified 0.00143 2.8396 0.8907 BRCA2 rs11571747 13:32371035:A:C 13 32371035 A C 13:32945172 0.931965 0.00078119 0 287 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Secondary parkinsonism (more controls excluded) 7.61e-05 12.35 3.1217 BRCA2 rs150600452 13:32375396:A:G 13 32375396 A G 13:32949533 0.989333 5107 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast-ovarian cancer, familial 2 Chronic hepatitis NAS 0.000128 2.1341 0.5572 Loose body in joint 0.0004031 16.272 4.599 BRCA2 rs11571769 13:32379413:G:A 13 32379413 G A 13:32953550 0.962156 322 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Crushing injury of wrist and hand 0.00049 12.5699 3.6056 BRCA2 rs59004709 13:32379467:G:A 13 32379467 G A 13:32953604 0.944562 149 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Frostbite 0.00103 21.3326 6.4971 BRCA2 rs200210279 13:32398385:C:G 13 32398385 C G 13:32972522 0.978948 337 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiac murmurs and other cardiac sounds 0.00214 2.571 0.8373 BRCA2 rs11571833 13:32398489:A:T 13 32398489 A T 13:32972626 0.998671 0.00927902 30 3379 LC both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Actinic keratosis 7.14e-06 0.6471 0.1441 Osteopathies and chondropathies 5.636e-05 4.026 1 BRCA2 rs758307938 13:32398606:G:GTGAATTATA 13 32398606 G GTGAATTATA 13:32972743 0.921014 181 inframe_indel both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services in other circumstances 0.000252 0.9974 0.2725 BRCA2 rs730881599 13:32398608:C:CT 13 32398608 C CT 13:32972745 0.921014 181 LC both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Persons encountering health services in other circumstances 0.000252 0.9974 0.2725 BRCA2 rs1801426 13:32398747:A:G 13 32398747 A G 13:32972884 0.999132 0.00658704 24 2396 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast and/or ovarian cancer;Breast-ovarian cancer, familial 2;Familial cancer of breast;Fanconi anemia;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified Open wound of lower leg 2.08e-05 1.1224 0.2637 Mixed disorders of conduct and emotions 0.0002102 11.827 3.191 KL rs9536314 13:33054001:T:G 13 33054001 T G 13:33628138 0.999472 57874 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectum (other cancers excluded from controls) 0.00116 -0.1475 0.0454 Valvular operations 0.0008968 -0.062 0.019 KL rs9527025 13:33054056:G:C 13 33054056 G C 13:33628193 0.999436 57879 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectum (other cancers excluded from controls) 0.00117 -0.1474 0.0454 Valvular operations 0.0009761 -0.061 0.019 KL rs3752472 13:33055256:C:T 13 33055256 C T 13:33629393 0.984957 2993 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tumoral calcinosis, familial, hyperphosphatemic Asthma mixed form (mode) 0.00028 1.3509 0.3718 Malignant neoplasm of ovary 0.0004437 29.58 8.421 KL rs146235320 13:33061705:G:A 13 33061705 G A 13:33635842 0.998044 4891 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Tumoral calcinosis, familial, hyperphosphatemic Type 2 diabetes with other specified/multiple/unspecified complications 0.00035 0.1976 0.0553 Chronic gastritis 5.525e-05 3.102 0.769 NBEA rs189755961 13:35583901:A:G 13 35583901 A G 13:36158038 0.949583 349 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinal osteochondrosis 0.000969 9.8479 2.9849 SPG20 rs146398746 13:36335470:C:A 13 36335470 C A 13:36909607 0.999548 0.00804871 28 2929 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Troyer syndrome;not provided;not specified Helminthiases 7.53e-05 2.7158 0.686 Other secondary gonarthrosis 0.0001805 22.718 6.066 RFXAP rs193240312 13:36819767:T:C 13 36819767 T C 13:37393904 0.874338 1566 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bare lymphocyte syndrome 2 Other abnormal findings of blood chemistry 0.000146 3.5329 0.9303 Chronic suppurative otitis media 0.002386 37.573 12.37 SMAD9 rs149015682 13:36853668:G:C 13 36853668 G C 13:37427805 0.802762 176 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of thyroid gland 0.00112 8.6789 2.6641 SMAD9 rs78249575 13:36865752:C:T 13 36865752 C T 13:37439889 0.982939 395 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mixed conductive and sensorineural hearing loss 0.00178 2.0892 0.6685 SMAD9 rs111748421 13:36879625:A:G 13 36879625 A G 13:37453762 0.926341 1207 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary pulmonary hypertension;not provided;not specified Other arthrosis 0.000875 0.5065 0.1522 Convergence insufficiency and excess 0.0006283 121.458 35.523 EXOSC8 rs36027220 13:37009283:G:C 13 37009283 G C 13:37583420 0.992001 0.00334524 10 1219 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Pontocerebellar hypoplasia, type 1c;not provided;not specified Retinal breaks without detachment 1.07e-05 1.5906 0.3612 Myasthenia gravis 0.0007851 102.556 30.541 POSTN rs75157793 13:37569335:A:G 13 37569335 A G 13:38143472 0.989766 0.00419992 12 1531 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sleep disorders 8.65e-05 1.1963 0.3047 Idiopathic thrombocytopenic purpura 0.001569 55.03 17.406 FREM2 rs183560588 13:38687453:C:T 13 38687453 C T 13:39261590 0.811514 134 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of eye, brain and central nervous system (other cancers excluded from controls) 0.0021 5.0581 1.6448 FREM2 rs41292753 13:38689472:C:T 13 38689472 C T 13:39263609 0.977043 693 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disturbances of smell and taste 0.00215 2.9767 0.9698 FREM2 rs58363253 13:38689509:G:A 13 38689509 G A 13:39263646 0.929108 218 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Speech and linguistic disorders 0.000155 6.2772 1.6592 FREM2 rs201714905 13:38689524:G:A 13 38689524 G A 13:39263661 0.987335 653 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Personality disorders (more controls excluded) 0.00108 1.1026 0.3372 Benign neoplasm: Transverse colon 0.002136 42.89 13.968 FREM2 rs7327915 13:38689652:G:A 13 38689652 G A 13:39263789 0.930972 219 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Speech and linguistic disorders 0.000156 6.2698 1.658 FREM2 rs7329939 13:38689946:C:G 13 38689946 C G 13:39264083 0.930537 218 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Speech and linguistic disorders 0.000154 6.2808 1.6598 FREM2 rs2496425 13:38690553:T:C 13 38690553 T C 13:39264690 0.99685 79239 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schizophrenia or delusion 0.00151 -0.0834 0.0263 8.984e-06 0.721 0.162 FREM2 rs143044921 13:38691375:G:A 13 38691375 G A 13:39265512 0.956392 2006 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital diaphragmatic hernia;Cryptophthalmos syndrome Other and unspecified psoriasis 0.000919 1.5023 0.4533 Disorders of synovium and tendon in diseases classified elsewhere 0.001646 55.951 17.775 FREM2 rs1868463 13:38692347:G:A 13 38692347 G A 13:39266484 0.986336 7716 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cryptophthalmos syndrome;not specified Hallux rigidus 0.000124 0.4601 0.1199 Abnormal results of function studies 0.0005695 4.617 1.34 FREM2 rs9603422 13:38769685:C:T 13 38769685 C T 13:39343822 0.987737 0.0767336 2292 25899 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cryptophthalmos syndrome Other diseases of pleura 2.57e-05 0.1675 0.0398 Alzheimer's disease (Atypical or mixed) (more controls excluded) 9.297e-05 1.454 0.372 FREM2 rs9548505 13:38848487:C:T 13 38848487 C T 13:39422624 0.997722 0.0723459 2136 24443 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cryptophthalmos syndrome Benign neoplasms 4.81e-05 0.0664 0.0163 Secondary parkinsonism 0.0001215 1.977 0.515 FREM2 rs9548506 13:38850116:C:G 13 38850116 C G 13:39424253 0.997666 0.0722833 2132 24424 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cryptophthalmos syndrome Benign neoplasms (other cancers excluded from controls) 5.04e-05 0.0687 0.017 Secondary parkinsonism 0.0001212 1.978 0.515 FREM2 rs9548509 13:38856177:C:T 13 38856177 C T 13:39430314 0.986819 70065 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mouth breathing 0.000518 -0.0785 0.0226 Other sleepdisorders 0.0003496 -0.106 0.03 FREM2 rs116099212 13:38878873:G:A 13 38878873 G A 13:39453010 0.944986 1269 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Disorders of eyelid in diseases classified elsewhere 0.000361 2.781 0.7797 Hereditary ataxia 0.0005107 142.058 40.879 FREM2 rs114400765 13:38880315:C:T 13 38880315 C T 13:39454452 0.828189 123 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Meniere disease 0.000412 5.491 1.5544 COG6 rs3812882 13:39655754:G:A 13 39655754 G A 13:40229891 0.997257 0.364949 48962 85116 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins 5.08e-06 -0.0687 0.0151 Dementia due to Parkinsons disease 1.932e-05 0.431 0.101 COG6 rs3812883 13:39655820:T:A 13 39655820 T A 13:40229957 0.997287 0.364889 48956 85100 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins 5.3e-06 -0.0685 0.015 Dementia due to Parkinsons disease 1.875e-05 0.432 0.101 COG6 rs41286961 13:39719291:T:C 13 39719291 T C 13:40293428 0.99403 30677 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation;not specified Acute nephritic syndrome 0.000232 0.5658 0.1537 Other anxiety disorders 0.0001491 0.273 0.072 SLC25A15 rs17849654 13:40808575:A:T 13 40808575 A T 13:41382711 0.998845 90310 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic sinusitis 0.000274 -0.0676 0.0186 Other specified/unspecified hearing loss 5.241e-05 -0.188 0.046 VWA8 rs78161810 13:41685059:T:G 13 41685059 T G 13:42259195 0.992008 1154 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative colitis, NAS 0.00238 0.9412 0.3098 Congenital malformations of the musculoskeletal system, not elsewhere classified 0.0006413 119.968 35.145 VWA8 rs138075452 13:41811285:C:T 13 41811285 C T 13:42385421 0.997759 0.00284985 10 1037 missense_variant unknown Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria COPD-related respiratory insufficiency 6.85e-06 0.9366 0.2082 Other and unspecified mononeuropathies of lower limb 0.0004637 165.254 47.203 AKAP11 rs61752500 13:42301451:A:G 13 42301451 A G 13:42875587 0.985913 365 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the skin and subcutaneous tissue 0.00014 1.1073 0.2907 AKAP11 rs17063163 13:42301955:A:G 13 42301955 A G 13:42876091 0.969911 2532 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erythema intertrigo 0.0015 2.4627 0.7756 Benign neoplasm: Skin of ear and external auricular canal (other cancers excluded from controls) 5.898e-05 37.076 9.23 TNFSF11 rs200788562 13:42574383:A:G 13 42574383 A G 13:43148519 0.931241 1141 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Alcohol related diseases, tilastokeskus definition, death only 0.00098 1.7453 0.5295 Artificial opening status 0.0008101 76.392 22.808 TNFSF11 rs200250962 13:42574401:C:A 13 42574401 C A 13:43148537 0.954221 0.013566 86 4898 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteopetrosis Residual foreign body in soft tissue 5.26e-05 1.1953 0.2956 Pleural effusion 0.001934 3.764 1.214 TNFSF11 rs138818878 13:42574410:C:G 13 42574410 C G 13:43148546 0.969106 14309 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteopetrosis Chronic lower respiratory diseases 0.000365 0.0945 0.0265 Desensitization to allergens 0.0001825 2.663 0.712 TNFSF11 rs142756983 13:42574517:G:A 13 42574517 G A 13:43148653 0.959915 1019 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Osteopetrosis;not provided Other/unspecified dorsalgia 0.000204 0.7253 0.1953 Drug-induced osteoporosis with pathological fracture 0.0006001 132.214 38.529 LACC1 rs34414396 13:43881097:A:G 13 43881097 A G 13:44455233 0.994307 9168 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Subjective visual disturbances 0.00012 -0.3678 0.0956 Lack of expected normal physiological development 0.001345 8.95 2.791 LCP1 rs117014375 13:46158935:G:A 13 46158935 G A 13:46733070 0.925995 2734 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinal instabilities 0.000155 2.0173 0.5332 Other and unspecified injuries of thorax 0.003227 30.424 10.33 HTR2A rs6308 13:46834913:G:A 13 46834913 G A 13:47409048 0.994897 349 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adhesive capsulitis of shoulder 0.000633 1.9371 0.5669 SUCLA2 rs7320366 13:47973332:A:T 13 47973332 A T 13:48547467 0.999154 0.797859 233922 59202 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ovarian dysfunction 9.03e-05 0.272 0.0695 Anoxic brain damage 1.356e-05 -0.415 0.095 SUCLA2 rs142289138 13:47996878:G:A 13 47996878 G A 13:48571013 0.957104 758 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abscess of anal and rectal regions 0.000321 2.0038 0.557 NUDT15 rs116855232 13:48045719:C:T 13 48045719 C T 13:48619855 0.998495 6929 missense_variant dominant drug response drug response reviewed by expert panel Criteria_multSubmitter Thiopurines, poor metabolism of, 2;azathioprine response - Dosage, Toxicity/ADR;mercaptopurine response - Dosage, Toxicity/ADR Diseases of liver 0.000305 0.305 0.0845 Fracture of rib(s), sternum and thoracic spine 8.156e-05 2.436 0.618 MED4 rs146226547 13:48077193:A:T 13 48077193 A T 13:48651329 0.99269 5009 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorder of lipoprotein metabolism, unspecified 0.000241 0.634 0.1727 Open wound of abdomen, lower back and pelvis 0.0003746 16.459 4.627 RB1 rs183898408 13:48364952:C:T 13 48364952 C T 13:48939088 0.99025 216 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of eye and adnexa 0.000155 19.0583 5.0375 LPAR6 rs17071686 13:48411503:C:A 13 48411503 C A 13:48985639 0.991085 7739 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified types of non-Hodgkin lymphoma (other cancers excluded from controls) 0.00036 0.9279 0.2601 Other and unspecified types of non-Hodgkin lymphoma (other cancers excluded from controls) 0.0003188 7.154 1.987 CYSLTR2 rs143085034 13:48706965:T:G 13 48706965 T G 13:49281101 0.974398 2033 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Care involving use of rehabilitation procedures 0.000959 0.3553 0.1076 Rotator cuff syndrome 0.0003757 4.655 1.309 CYSLTR2 rs116932219 13:48707125:A:G 13 48707125 A G 13:49281261 0.964878 2236 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Liver 0.000655 2.7514 0.8074 Trochanteric bursitis 8.274e-05 9.838 2.499 CYSLTR2 rs41347648 13:48707418:A:G 13 48707418 A G 13:49281554 0.985823 1924 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Unspefcified behauvioural syndromes associated with physiological disturbances and physical factors +Phsyiological and behauvioural factors associated with disorders of diseases classified elsewhere 0.00106 2.6452 0.8079 Undefined dementia 0.0001818 17.149 4.582 CYSLTR2 rs138722135 13:48707649:T:A 13 48707649 T A 13:49281785 0.974389 2033 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Care involving use of rehabilitation procedures 0.000959 0.3553 0.1076 Rotator cuff syndrome 0.0003757 4.655 1.309 RCBTB1 rs138308390 13:49566688:T:G 13 49566688 T G 13:50140824 0.985628 5958 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gastrointestinal diseases 0.000125 -0.105 0.0274 Giant cell arteritis with polymyalgia rheumatica 0.0008602 11.51 3.454 ARL11 rs34301344 13:49630893:G:A 13 49630893 G A 13:50205029 0.989955 2200 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypermobility syndrome 0.00107 1.3816 0.4222 Secondary malignant neoplasm of other and unspecified sites (other cancers excluded from controls) 0.0001856 303.462 81.187 RNASEH2B rs144408326 13:50956394:G:T 13 50956394 G T 13:51530530 0.983507 434 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified injuries of lower leg 0.00159 3.2774 1.0379 RNASEH2B rs201190805 13:50956403:G:A 13 50956403 G A 13:51530539 0.977731 352 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other abnormalities of plasma proteins 0.000324 14.4934 4.0315 ATP7B rs60986317 13:51934853:G:A 13 51934853 G A 13:52508989 0.995169 257 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Manic episode 0.000479 4.9931 1.4298 ATP7B rs148399850 13:51937490:C:T 13 51937490 C T 13:52511626 0.995933 2585 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Wilson disease;not provided;not specified Crohn disease ( strict definition, require KELA, min 2 HDR) 0.00095 1.2796 0.3872 Other skin changes 0.00212 7.326 2.384 ATP7B rs199821556 13:51937493:C:T 13 51937493 C T 13:52511629 0.991498 383 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Wilson disease Death due to cardiac causes 0.00124 1.0824 0.3352 0.002832 28.593 9.577 ATP7B rs776280797 13:51939104:C:T 13 51939104 C T 13:52513240 0.879999 210 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinal vascular occlusion 0.00034 4.1804 1.1668 ATP7B rs7334118 13:51939130:T:C 13 51939130 T C 13:52513266 0.999279 923 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Postmenopausal bleeding 0.000116 0.8485 0.2201 ATP7B rs1801249 13:51941218:A:G 13 51941218 A G 13:52515354 0.999942 88379 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of cardiac and vascular prosthetic devices, implants and grafts 0.000188 -0.3929 0.1052 Visual disturbances and blindness 0.0007157 -0.047 0.014 ATP7B rs187200982 13:51942395:C:T 13 51942395 C T 13:52516531 0.990068 17765 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Wilson disease;not provided Chronic suppurative otitis media 0.000319 0.5591 0.1553 Glucoma-related operations 0.00164 2.011 0.639 ATP7B rs732774 13:51949672:C:T 13 51949672 C T 13:52523808 0.999926 88502 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of cardiac and vascular prosthetic devices, implants and grafts 0.000174 -0.3948 0.1052 Tubulo-interstitial nephritis, not spesified as acute or chronic 0.000446 -0.127 0.036 ATP7B rs1061472 13:51950352:T:C 13 51950352 T C 13:52524488 0.999935 88693 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of cardiac and vascular prosthetic devices, implants and grafts 0.000175 -0.3943 0.1051 Tubulo-interstitial nephritis, not spesified as acute or chronic 0.0006514 -0.124 0.036 ATP7B rs61733684 13:51958491:C:T 13 51958491 C T 13:52532627 0.973548 2144 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation of lens 0.00134 2.8821 0.8985 Other and unspecified paralytic syndromes 0.0006014 122.821 35.798 ATP7B rs138427376 13:51968544:A:G 13 51968544 A G 13:52542680 0.998764 4239 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Wilson disease;not provided;not specified Benign neoplasm: Other and unspecified parts of mouth (other cancers excluded from controls) 0.0019 1.0879 0.3503 Benign neoplasm: Peripheral nerves and autonomic nervous system (other cancers excluded from controls) 0.002605 37.622 12.496 ATP7B rs183044693 13:51970660:C:A 13 51970660 C A 13:52544796 0.994822 2899 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute appendicitis 0.000722 -0.25 0.0739 Status post-ami 0.0002508 15.246 4.164 ATP7B rs1801244 13:51970669:C:G 13 51970669 C G 13:52544805 0.99984 91460 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of cardiac and vascular prosthetic devices, implants and grafts 0.000749 -0.348 0.1032 Benign neoplasm of other and ill-defined parts of digestive system (other cancers excluded from controls) 0.001534 -0.087 0.027 ATP7B rs1801243 13:51974004:A:C 13 51974004 A C 13:52548140 0.999914 91337 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of cardiac and vascular prosthetic devices, implants and grafts 0.00112 -0.3367 0.1033 Benign neoplasm of other and ill-defined parts of digestive system (other cancers excluded from controls) 0.002661 -0.082 0.027 ATP7B rs184868522 13:51975122:A:G 13 51975122 A G 13:52549258 0.804125 5.98822e-05 0 22 start_lost recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 1.31e-05 55.2811 12.6819 ALG11 rs17480245 13:52024053:A:G 13 52024053 A G 13:52598189 0.999374 1246 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1P;not specified Otosclerosis 0.000585 1.3863 0.4032 Other diseases of upper respiratory tract 0 2.449 0 UTP14C rs3742289 13:52029058:G:T 13 52029058 G T 13:52603194 0.999332 0.692459 176296 78105 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes, wide definition 2.6e-05 -0.0666 0.0158 Sixth [abducent] nerve palsy 0.0003515 -0.21 0.059 UTP14C rs3742290 13:52029105:A:G 13 52029105 A G 13:52603241 0.998829 0.121572 5378 39286 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of binocular movement 7.81e-05 0.5862 0.1484 Use of eye-antiallergens (taken as indicator of allergic/atopic conjunctivitis) 0.0004802 -0.177 0.051 UTP14C rs73184339 13:52029312:A:G 13 52029312 A G 13:52603448 0.962361 355 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erectile dysfunction 0.000451 3.5333 1.0071 UTP14C rs144970453 13:52029543:A:G 13 52029543 A G 13:52603679 0.938776 286 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Peritonsillar abscess 0.000181 2.0935 0.5591 UTP14C rs141049018 13:52031018:C:G 13 52031018 C G 13:52605154 0.938774 0.00158688 2 581 LC unknown Uncertain significance VUS no assertion criteria provided no_Criteria Pleural effusion 7.2e-05 2.3336 0.5879 CKAP2 rs41292820 13:52473831:G:A 13 52473831 G A 13:53047966 0.988207 0.0120499 78 4349 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dissociative [conversion] disorders 5.95e-05 1.2789 0.3185 Pericarditis 0.0005027 14.636 4.207 DIAPH3 rs200654315 13:59774760:C:T 13 59774760 C T 13:60348894 0.946946 0.000574325 4 207 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sarcoidosis 7.98e-05 3.7833 0.959 Diabetes-related co-morbidities/complications (more controls excluded) 0 3.014 0 DIAPH3 rs201517886 13:59774761:G:A 13 59774761 G A 13:60348895 0.996518 0.00209043 4 764 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy, childbirth and the puerperium 3.26e-05 -0.4585 0.1104 Endocrine, nutritional and metabolic diseases 0 2.387 0 DIAPH3 rs35579086 13:59911785:A:G 13 59911785 A G 13:60485919 0.955871 542 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified local infections of skin and subcutaneous tissue 0.000566 2.7049 0.7846 DIAPH3 rs200018583 13:59970971:G:T 13 59970971 G T 13:60545105 0.989906 1437 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 0.000152 4.5789 1.2088 Third [oculomotor] nerve palsy 0.0009319 89.219 26.952 DIAPH3 rs150023947 13:59971024:G:A 13 59971024 G A 13:60545158 0.986895 479 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Toxic effect of ethanol 0.000352 3.8251 1.0705 DIAPH3 rs111260336 13:59971048:G:A 13 59971048 G A 13:60545182 0.97473 18506 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Rheumatoid arthritis 0.000977 -0.1653 0.0501 Desensitization to allergens 0.0003012 1.83 0.506 DIAPH3 rs36084898 13:59992510:T:C 13 59992510 T C 13:60566644 0.99889 23484 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Disorders of vitreous body and globe 0.000198 0.1448 0.0389 Endometriosis of pelvic peritoneum 0.0003363 0.591 0.165 DIAPH3 rs200345616 13:60163621:C:T 13 60163621 C T 13:60737755 0.980644 0.0124174 70 4492 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcer of oesophagus 7.28e-05 0.9715 0.2449 Other benign neoplasm of uterus: Other parts/unspecified 0.0001082 9.115 2.355 PIBF1 rs115330455 13:72783620:A:G 13 72783620 A G 13:73357758 0.992675 2413 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute otitis externa, noninfective 0.000114 3.1247 0.8096 Other complications of surgical and medical care, not elsewhere classified 0.0004235 14.536 4.124 PIBF1 rs115858628 13:72908609:C:A 13 72908609 C A 13:73482747 0.977073 812 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanoma in situ (other cancers excluded from controls) 0.00144 3.3538 1.0523 PIBF1 rs41286070 13:72998910:A:C 13 72998910 A C 13:73573048 0.985616 678 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Antepartum haemorrhage, not elsewhere classified 0.00035 2.5487 0.7128 Essential (haemorrhagic) thrombocythaemia 0.0004137 183.432 51.946 TBC1D4 rs557337 13:75286865:A:G 13 75286865 A G 13:75861001 0.998477 16031 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Maternal care for known or suspected abnormality of pelvic organs 0.000943 -0.2161 0.0653 Senile cataract 0.00115 0.356 0.11 TBC1D4 rs76851570 13:75288980:T:C 13 75288980 T C 13:75863116 0.888147 0.00626586 26 2276 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hypertrophic scar 5.13e-05 1.8257 0.4508 Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 0.001326 8.577 2.672 TBC1D4 rs9600455 13:75292148:G:A 13 75292148 G A 13:75866284 0.97852 25825 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Carcinoma in situ of breast, intraductal 0.000183 0.3885 0.1039 Abscess of external ear 7.082e-05 2.619 0.659 TBC1D4 rs1062087 13:75310080:C:T 13 75310080 C T 13:75884216 0.99421 52507 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Cervical disc disorders 0.000805 0.0892 0.0266 Open wound of wrist and hand 0.0001915 0.056 0.015 TBC1D4 rs149821147 13:75312867:T:C 13 75312867 T C 13:75887003 0.91561 2206 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diseases of oesophagus, stomach and duodenum 0.000121 0.2659 0.0692 Disorders of oesophagus in diseases classified elsewhere 0.0003481 183.73 51.37 TBC1D4 rs56223054 13:75326374:G:A 13 75326374 G A 13:75900510 0.892876 0.000914564 0 336 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified soft tissue disorders related to use, overuse and pressure 1.63e-05 9.0585 2.1015 TBC1D4 rs200446215 13:75362393:T:G 13 75362393 T G 13:75936529 0.883089 140 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lagophthalmos 0.000745 24.26 7.1935 TBC1D4 rs77685055 13:75481466:G:A 13 75481466 G A 13:76055602 0.98218 21873 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Hypertensive diseases (excluding secondary) 0.000571 0.0805 0.0234 Dislocation, sprain and strain of joints and ligaments at neck level 0.001673 0.667 0.212 LMO7 rs142994139 13:75823574:G:A 13 75823574 G A 13:76397710 0.990938 4438 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitamin B12 deficiency anaemia 0.00024 0.6666 0.1815 Toxic effects of substances chiefly nonmedicinal as to source 0.0007919 5.017 1.495 CLN5 rs201615354 13:76991953:T:C 13 76991953 T C 13:77566088 0.881058 769 start_lost recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specified/unspecified systemic involvement of connective tissue 0.000166 3.0296 0.8046 CLN5 rs77416795 13:76991955:C:T 13 76991955 C T 13:77566090 0.990613 34091 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of lacrimal system 0.000368 0.1237 0.0347 Polyuria 0.0006594 0.342 0.1 CLN5 rs200353554 13:76992012:C:T 13 76992012 C T 13:77566147 0.976539 2501 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ceroid lipofuscinosis neuronal 5;Neuronal ceroid lipofuscinosis;Seizures;not provided;not specified Chronic diseases of tonsils and adenoids 0.000356 0.2565 0.0718 Coronary revascularization (ANGIO or CABG) 0.0003329 2.565 0.715 CLN5 rs1409904698 13:76992142:G:GGGGCGC 13 76992142 G GGGGCGC 13:77566277 0.818957 62 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Follow-up examination after treatment for malignant neoplasms 0.000276 10.4711 2.8791 CLN5 rs138611001 13:77000471:C:A 13 77000471 C A 13:77574606 0.975492 2457 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ceroid lipofuscinosis neuronal 5;Neuronal ceroid lipofuscinosis;Seizures;not provided;not specified Ulcer of lower limb, not elsewhere classified 0.000693 0.9358 0.2759 8.543e-05 1.794 0.457 CLN5 rs1800209 13:77000848:A:G 13 77000848 A G 13:77574983 0.993122 32448 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ceroid lipofuscinosis neuronal 5;Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;Seizures;not provided;not specified Crohn's disease of small interstine 0.000106 0.3591 0.0926 Inflammatory bowel disease 6.143e-07 0.431 0.086 CLN5 rs1341468352 13:77000917:CAT:C 13 77000917 CAT C 13:77575052 0.969554 437 LC recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Headache 0.000103 0.8804 0.2267 MYCBP2 rs760826252 13:77326774:A:C 13 77326774 A C 13:77900909 0.870888 168 start_lost unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Universal eryhrodermia, KELA reimbursement 0.00113 20.1271 6.1841 EDNRB rs5352 13:77901095:C:T 13 77901095 C T 13:78475230 0.982881 7612 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hirschsprung Disease, Recessive;Hirschsprung disease 2;Waardenburg syndrome type 2A;Waardenburg syndrome type 4A;not specified Other and unspecified injuries of lower leg 0.000511 0.7154 0.2059 Superficial injury of thorax 8.201e-05 3.108 0.789 EDNRB rs1801710 13:77918405:C:T 13 77918405 C T 13:78492540 0.995435 3388 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hirschsprung Disease, Recessive;Hirschsprung disease 2;Waardenburg syndrome;not provided;not specified Single spontaneous delivery 0.000191 -0.2081 0.0558 Need for immunization against other single viral diseases 5.517e-05 38.984 9.667 EDNRB rs2070591 13:77918599:C:T 13 77918599 C T 13:78492734 0.963249 770 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hirschsprung Disease, Recessive;Hirschsprung disease 2;Waardenburg syndrome;not specified Short stature, not elsewhere classified 0.000642 4.7057 1.3786 Other lesions of median nerve 0.0007993 95.297 28.421 SLITRK1 rs145628951 13:83880520:A:C 13 83880520 A C 13:84454655 0.988489 742 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Connective and other soft tissue of head, face and neck (other cancers excluded from controls) 0.000796 4.9329 1.4707 Hyperprolactinaemia 0.0008734 94.707 28.454 SLITRK6 rs74591375 13:85794314:C:T 13 85794314 C T 13:86368449 0.969117 1561 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Diabetes insipidus 0.00145 4.206 1.3205 Ill-defined and unknown causes of mortality 0.001058 79.279 24.21 SLITRK6 rs12863734 13:85796436:G:A 13 85796436 G A 13:86370571 0.990249 5692 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Injury of nerves and spinal cord at neck level 0.00161 1.4214 0.4508 Vascular dementia (undefined) 0.0006227 8.103 2.368 GPC6 rs143872144 13:93545358:C:T 13 93545358 C T 13:94197611 0.984754 2762 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of liver and intrahepatic bile ducts (other cancers excluded from controls) 0.000155 2.2576 0.5969 Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.001669 2.382 0.758 GPC6 rs773575076 13:94306004:A:G 13 94306004 A G 13:94958258 0.834733 307 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Unspecified mental disorder 0.00132 1.497 0.4662 GPC6 rs1535692 13:94382495:G:A 13 94382495 G A 13:95034749 0.995362 72404 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bacterial pneumoniae 0.000177 0.0786 0.021 Palindromic rheumatism 0.0005503 0.696 0.202 ABCC4 rs11568644 13:95053126:G:A 13 95053126 G A 13:95705380 0.998936 6226 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of patella 0.000422 -0.3739 0.106 Benign neoplasm: Pituitary gland, craniopharyngeal duct (other cancers excluded from controls) 9.458e-05 10.577 2.709 ABCC4 rs139970608 13:95083230:T:C 13 95083230 T C 13:95735484 0.965986 2911 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of muscles 0.00138 0.7774 0.243 Other hearing loss 0.0004087 5.778 1.635 UGGT2 rs145358686 13:95854379:C:T 13 95854379 C T 13:96506633 0.996084 0.00554183 20 2016 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Family history of certain disabilities and chronic diseases leading to disablement 5.48e-06 2.7537 0.6058 Ovarian cyst 1.789e-06 3.678 0.77 UGGT2 rs148108950 13:96013443:G:A 13 96013443 G A 13:96665697 0.999143 0.022268 238 7943 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninflammatory disorders of vagina 4.24e-05 0.6587 0.1609 Residual foreign body in soft tissue 0.001622 4.103 1.302 OXGR1 rs565524916 13:96987625:GA:G 13 96987625 GA G 13:97639879 0.993488 8051 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Speech and linguistic disorders 0.000592 -0.5593 0.1628 Hyphaema and other vascular disorders of iris and ciliary body 0.001037 10.637 3.243 DOCK9 rs62620184 13:98902367:G:A 13 98902367 G A 13:99554621 0.998688 13906 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diplopia 0.000135 0.3884 0.1017 Abscess of Bartholin gland 0.0002741 4.499 1.237 GPR18 rs41279138 13:99255314:G:T 13 99255314 G T 13:99907568 0.894286 477 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other juvenile arthritis 0.00024 4.2645 1.161 PCCA rs146927771 13:100273210:C:G 13 100273210 C G 13:100925464 0.958573 0.000244973 0 90 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Angina pectoris 4.91e-06 2.3953 0.5243 PCCA rs35719359 13:100309902:A:G 13 100309902 A G 13:100962156 0.99755 31628 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified diabetes 0.00153 0.1501 0.0474 Mental retardation (more controls excluded) 0.001175 1.011 0.312 PCCA rs61749895 13:100368479:G:T 13 100368479 G T 13:101020733 0.953625 1138 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Propionyl-CoA carboxylase deficiency;not specified Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 0.0015 1.134 0.3572 Panic disorder 4.215e-05 39.186 9.568 PCCA rs142646074 13:100515544:G:C 13 100515544 G C 13:101167798 0.994619 1613 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Propionyl-CoA carboxylase deficiency Malnutrition 0.000427 4.5029 1.2783 Valvular operations 0.0001024 1.829 0.471 NALCN rs76776920 13:101110678:G:A 13 101110678 G A 13:101763029 0.966363 9368 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Arthrosis 0.000789 0.1128 0.0336 Urethral stricture 0.001477 2.634 0.829 FGF14 rs141304687 13:101916522:C:A 13 101916522 C A 13:102568872 0.992289 1235 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinocerebellar Ataxia, Dominant Conjunctivitis 0.00105 -0.3984 0.1216 Other diseases of appendix 0.000143 434.228 114.183 TPP2 rs200366836 13:102597159:G:A 13 102597159 G A 13:103249509 0.993827 3144 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of lower leg 0.000231 1.2355 0.3355 Adverse effects, not elsewhere classified 0.0006043 5.576 1.626 ERCC5 rs56255799 13:102858386:C:T 13 102858386 C T 13:103510736 0.991394 0.0017638 2 646 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecidied mood [affective] disorders 3.89e-05 2.6298 0.6392 ERCC5 rs1047769 13:102861594:A:G 13 102861594 A G 13:103513944 0.99663 0.0138464 62 5025 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Xeroderma pigmentosum;Xeroderma pigmentosum, group G;not specified Persons encountering health services for examination and investigation 4.8e-06 0.1363 0.0298 Carcinoma in situ of cervix uteri 0.0001147 28.851 7.48 ERCC5 rs4150313 13:102861601:A:G 13 102861601 A G 13:103513951 0.981016 0.00178558 2 654 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecidied mood [affective] disorders 4.28e-05 2.6009 0.6357 ERCC5 rs2227869 13:102862735:G:C 13 102862735 G C 13:103515085 0.996406 22393 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Xeroderma pigmentosum;Xeroderma pigmentosum, group G;not specified Non-small cell lung cancer (other cancers excluded from controls) 0.000193 0.3469 0.0931 Other bursopathies 0.001438 0.664 0.208 ERCC5 rs4150319 13:102862938:G:C 13 102862938 G C 13:103515288 0.984972 672 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary right heart disease 0.000795 3.8607 1.1509 ERCC5 rs2227870 13:102863029:C:A 13 102863029 C A 13:103515379 0.987781 3869 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Xeroderma pigmentosum;not specified Other disorders of choroid 0.00083 2.205 0.6596 Vocal cord dysfunction 0.0002324 18.782 5.102 ERCC5 rs4150342 13:102868215:A:G 13 102868215 A G 13:103520565 0.969597 2794 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Falls/tendenct to fall 0.000375 1 0.2811 Congenital malformations and deformations of the musculoskeletal system 0.0007464 11.494 3.409 ERCC5 rs17655 13:102875652:G:C 13 102875652 G C 13:103528002 0.998483 0.242044 21732 67192 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of gallbladder, biliary tract and pancreas 5.33e-06 -0.0637 0.014 Melanocytic naevi of upper limb, including shoulder 0.0002634 0.589 0.161 ERCC5 rs2227871 13:102875698:C:T 13 102875698 C T 13:103528048 0.991875 681 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other enthesopathies 0.00167 -0.7993 0.2543 Hypertensive diseases (excluding secondary) 0 2.074 0 SLC10A2 rs61966074 13:103049298:A:G 13 103049298 A G 13:103701648 0.982007 397 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other inflammatory liver diseases 0.000525 3.5518 1.0243 SLC10A2 rs71640248 13:103049322:A:G 13 103049322 A G 13:103701672 0.951641 3833 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck 0.00105 0.8842 0.2698 Other abnormal findings of blood chemistry 0.000161 36.273 9.613 SLC10A2 rs56398830 13:103049340:G:A 13 103049340 G A 13:103701690 0.994378 1914 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Mental and behavioural disorders due to sedatives or hypnotics 0.000543 1.1793 0.341 Adjustment and management of implanted device 0.001479 5.723 1.8 SLC10A2 rs72547505 13:103049423:G:A 13 103049423 G A 13:103701773 0.957093 0.000481779 0 177 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of lip, oral cavity and pharynx 7.58e-05 24.4451 6.1774 SLC10A2 rs188096 13:103052694:A:C 13 103052694 A C 13:103705044 0.999942 0.8851 287880 37295 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of liver 9.96e-05 -0.2109 0.0542 Other secondary gonarthrosis 0.0001763 -0.208 0.055 SLC10A2 rs55971546 13:103065958:C:T 13 103065958 C T 13:103718308 0.989574 0.0427151 714 14979 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Drug-induced hypoglycaemia without coma 6.66e-05 1.1439 0.2868 Mental and behavioural disorders due to cannabinoids 0.0002439 3.019 0.823 DAOA rs2391191 13:105467097:G:A 13 105467097 G A 13:106119446 0.999289 0.431685 68520 90076 missense_variant dominant not provided not_provided no assertion provided none Acohol-induced acute pancreatitis 1.26e-05 0.3394 0.0777 Impacted cerumen 0.0007227 -0.177 0.052 LIG4 rs1805388 13:108211243:G:A 13 108211243 G A 13:108863591 0.997593 72597 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Premature separation of placenta [abruptio placentae] 0.000246 0.3723 0.1016 Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.0004472 -0.12 0.034 LIG4 rs1805389 13:108211261:G:A 13 108211261 G A 13:108863609 0.993332 20156 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lig4 syndrome;Multiple myeloma, resistance to;Severe combined immunodeficiency with sensitivity to ionizing radiation;not specified Dementia in Alzheimer disease 0.00129 0.2501 0.0777 Injuries involving multiple body regions 0.0002816 2.447 0.674 MYO16 rs117665810 13:108883067:G:C 13 108883067 G C 13:109535415 0.98776 0.00121398 0 446 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seborrhoeic dermatitis 6.75e-05 3.3689 0.8454 MYO16 rs76952704 13:108898019:G:A 13 108898019 G A 13:109550367 0.971437 1636 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Specific personality disorders 0.000384 -0.6961 0.196 Benign neoplasm of mouth and pharynx 0.0001371 37.037 9.712 IRS2 rs1805097 13:109782884:C:T 13 109782884 C T 13:110435231 0.995927 82638 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Alzheimer's disease (undefined) (more controls excluded) 0.00014 -0.4925 0.1293 Obesity related asthma 0.0001806 0.113 0.03 IRS2 rs201499247 13:109783409:C:G 13 109783409 C G 13:110435756 0.992912 1150 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis,primary 0.000301 0.418 0.1157 IRS2 rs549588978 13:109783419:C:T 13 109783419 C T 13:110435766 0.953836 0.00283079 2 1038 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autoimmune diseases related-to ILD 4.11e-05 -0.5172 0.1261 COL4A1 rs376607450 13:110162250:C:T 13 110162250 C T 13:110814597 0.908873 0.000405566 0 149 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other/unspecified cytomegaloviral diseases 5.48e-05 25.842 6.4057 COL4A1 rs3742207 13:110166251:T:G 13 110166251 T G 13:110818598 0.998888 72249 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of muscle and tendon at wrist and hand level 0.000353 0.1399 0.0392 Complications of internal orthopaedic prosthetic devices, implants and grafts 0.0005411 0.143 0.041 COL4A1 rs41275090 13:110177911:C:T 13 110177911 C T 13:110830258 0.9487 1446 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Porencephalic cyst Other disorders of white blood cells 0.000222 2.2315 0.6044 0.0005774 -1.885 0.548 COL4A1 rs75711155 13:110201527:A:C 13 110201527 A C 13:110853874 0.87994 0.000977169 2 357 LC dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 4.02e-05 0.8871 0.216 COL4A1 rs34004222 13:110213999:G:A 13 110213999 G A 13:110866346 0.99175 2301 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;Brain small vessel disease with hemorrhage;Optic nerve hypoplasia;Porencephalic cyst;not specified Coronary angiopasty 0.000226 -0.4996 0.1355 Focal epilepsy 0.0001986 21.411 5.754 COL4A1 rs9515185 13:110307009:C:G 13 110307009 C G 13:110959356 0.979705 75008 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Obesity due to excess calories 0.000283 -0.0918 0.0253 Other papulosquamous disorders 0.00167 0.588 0.187 COL4A1 rs751749989 13:110307021:G:T 13 110307021 G T 13:110959368 0.93298 777 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Single delivery by caesarean section 0.00235 0.8256 0.2714 COL4A2 rs62621885 13:110430425:G:T 13 110430425 G T 13:111082772 0.886266 372 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other hearing loss 0.000557 1.5409 0.4464 COL4A2 rs7990383 13:110458888:G:A 13 110458888 G A 13:111111235 0.998618 0.460429 77936 91220 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Otosclerosis 4.57e-06 -0.2051 0.0447 Mental retardation (more controls excluded) 0.0003399 0.235 0.066 COL4A2 rs200735885 13:110465576:C:T 13 110465576 C T 13:111117923 0.99142 2131 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Optic nerve hypoplasia;Porencephalic cyst Barret oesophagus 0.000411 2.0998 0.5943 Fracture of femur 3.12e-05 15.266 3.666 COL4A2 rs3803230 13:110467049:G:C 13 110467049 G C 13:111119396 0.986131 23898 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Porencephalic cyst Diseases of peritoneum 0.000319 0.2926 0.0813 9.637e-05 1.305 0.335 COL4A2 rs78829338 13:110469223:A:G 13 110469223 A G 13:111121570 0.992466 3605 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Porencephalic cyst;not provided Other female pelvic inflammatory diseases 0.000881 0.5325 0.1601 Achilles tendinitis 0.0005023 13.635 3.919 COL4A2 rs9583500 13:110469273:C:T 13 110469273 C T 13:111121620 0.985842 56142 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter GI-bleeding 0.000127 0.1175 0.0307 Malnutrition 0.0006577 0.921 0.27 COL4A2 rs184812559 13:110489765:G:A 13 110489765 G A 13:111142112 0.997733 6652 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Porencephalic cyst Unspesified kidney failure 0.000336 0.7531 0.21 Dislocation, sprain and strain of joints and ligaments of lumbar spine and pelvis 0.0003685 17.341 4.869 COL4A2 rs117412802 13:110491254:A:G 13 110491254 A G 13:111143601 0.983343 0.0287924 324 10254 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hemorrhage, intracerebral, susceptibility to;Porencephalic cyst;not provided Coronary revascularization (ANGIO or CABG) 1.02e-06 0.2689 0.055 Crushing injury of wrist and hand 0.001247 9.73 3.014 COL4A2 rs45520539 13:110503903:G:A 13 110503903 G A 13:111156250 0.992746 15829 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Porencephalic cyst Cough 0.000256 -0.1671 0.0457 Other and unspecified dermatitis 0.0005751 0.45 0.131 CARS2 rs575601185 13:110641548:A:AT 13 110641548 A AT 13:111293895 0.962504 0.000849238 0 312 LC recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments at neck level 1.83e-05 3.2827 0.7662 CARS2 rs1043886 13:110641568:T:G 13 110641568 T G 13:111293915 0.994071 51113 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical observation and evaluation for suspected diseases and conditions 0.000253 0.0535 0.0146 Failed induction of labour 3.361e-06 0.824 0.177 CARS2 rs147216443 13:110642407:C:T 13 110642407 C T 13:111294754 0.98703 3439 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined oxidative phosphorylation deficiency 27;not specified Polycythaemia vera 0.000429 1.6927 0.4807 Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 0.001037 9.195 2.803 CARS2 rs146773721 13:110683059:C:T 13 110683059 C T 13:111335406 0.994388 11210 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined oxidative phosphorylation deficiency 27;not specified Alopecia areata 0.00173 0.8708 0.278 Maltreatment syndromes 0.001451 2.741 0.861 CARS2 rs72661692 13:110687754:T:A 13 110687754 T A 13:111340101 0.99851 19351 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Acute laryngitis and tracheitis 0.000133 0.2972 0.0778 Malignant neoplasm of pancreas (other cancers excluded from controls) 0.0007182 1.646 0.487 ARHGEF7 rs149212045 13:111217801:G:C 13 111217801 G C 13:111870148 0.969443 2244 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General examination and investigation of persons without complaint and reported diagnosis 0.000881 0.2799 0.0841 Viral hepatitis 9.033e-06 74.324 16.743 ATP11A rs143634322 13:112832972:T:G 13 112832972 T G 13:113487286 0.993891 2797 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Herpesviral keratitis and keratoconjunctivitis 0.000606 1.4347 0.4184 Dislocation, sprain and strain of joints and ligaments at neck level 0.0001356 9.216 2.415 MCF2L rs143965865 13:113066163:G:A 13 113066163 G A 13:113720477 0.989079 0.000914564 0 336 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormal findings in urine 2.04e-05 17.8956 4.2002 MCF2L rs117508840 13:113075053:A:G 13 113075053 A G 13:113729367 0.996706 4333 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acquired haemolytic anaemia 0.00117 1.6206 0.4991 Torsion of ovary, ovarian pedicle and fallobian tube 3.236e-05 44.756 10.769 F7 rs36208758 13:113110844:G:A 13 113110844 G A 13:113765158 0.944691 4288 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Factor VII deficiency Other and unspecified visual disturbances 0.000104 1.107 0.2852 Corneal ulcer 0.0008425 4.962 1.486 F7 rs6046 13:113118845:G:A 13 113118845 G A 13:113773159 0.991063 26134 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Factor VII deficiency;Factor X deficiency;Myocardial infarction, decreased susceptibility to;not specified Kela-code for behavioural disturbances in mental retardation 0.000784 0.8803 0.2621 Deficiency of other B group vitamins 0.001749 1.625 0.519 F10 rs61753266 13:113140972:G:A 13 113140972 G A 13:113795286 0.993752 6575 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Factor X deficiency;not specified DVT of lower extremities and pulmonary embolism 0.000121 -0.2761 0.0718 0.0002984 -0.555 0.154 GAS6 rs201605000 13:113832760:G:A 13 113832760 G A 13:114535733 0.938984 1085 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Finngen Rheumatological endpoints 0.000303 -0.3168 0.0877 Conjunctivitis (acute, non atopic) 0.0002539 14.468 3.955 GAS6 rs145586332 13:113835542:G:A 13 113835542 G A 13:114538515 0.926603 775 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypoglycaemia, other or unspecified 0.000581 2.3012 0.6689 Tuberculosis 0.00234 33.387 10.97 CHAMP1 rs535593712 13:114324359:TCTC:T 13 114324359 TCTC T 13:115089834 0.968892 423 inframe_indel dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chorioretinal inflammation 0.000361 5.9902 1.6793 CHAMP1 rs3764522 13:114325544:C:G 13 114325544 C G 13:115091019 0.993722 11932 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructed labour due to malposition and malpresentation of fetus 0.000403 0.2689 0.076 Personal history of malignant neoplasm 0.001076 4.756 1.455 PNP rs1049564 14:20472447:G:A 14 20472447 G A 14:20940606 0.996205 49977 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter !!!Vapaa-ajan tapaturmat 0.000196 0.6699 0.1799 All influenza 0.0001611 0.226 0.06 ANG rs121909541 14:20693772:A:G 14 20693772 A G 14:21161931 0.982632 427 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diseases of middle ear and mastoid 0.000939 0.7478 0.2261 ARHGEF40 rs61734981 14:21080754:G:A 14 21080754 G A 14:21548913 0.828052 82 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypopituitarism 0.000404 13.0085 3.6776 RPGRIP1 rs200510462 14:21294686:T:A 14 21294686 T A 14:21762845 0.96799 0.00086557 0 318 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Care involving use of rehabilitation procedures 4.78e-05 1.1635 0.2862 RPGRIP1 rs1040904 14:21301034:C:A 14 21301034 C A 14:21769193 0.994935 9218 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Recessive;Leber congenital amaurosis;not provided;not specified Hypertension, essential 0.000366 -0.1207 0.0339 Dorsopathies 0.0002108 0.393 0.106 RPGRIP1 rs6571751 14:21302571:A:G 14 21302571 A G 14:21770730 0.999857 90652 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Pituitary gland, craniopharyngeal duct (other cancers excluded from controls) 0.000268 0.2261 0.062 Mucosal proctocolitis 0.0002429 0.106 0.029 RPGRIP1 rs10151259 14:21321881:G:T 14 21321881 G T 14:21790040 0.998752 0.280521 28892 74168 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Pituitary gland, craniopharyngeal duct (other cancers excluded from controls) 6.66e-06 0.3123 0.0693 Intrahepatic Cholestasis of Pregnancy (ICP) 3.387e-05 0.294 0.071 RPGRIP1 rs147586703 14:21321995:C:T 14 21321995 C T 14:21790154 0.988995 0.00360926 8 1318 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cone-rod dystrophy 13;Leber congenital amaurosis 6;not provided Burn and corrosion of ankle and foot 2.6e-05 6.3313 1.5054 Other specified disorders of external ear 0.0004892 142.303 40.814 RPGRIP1 rs34067949 14:21324622:G:T 14 21324622 G T 14:21792781 0.985617 598 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Volvulus 0.000352 6.1057 1.7087 RPGRIP1 rs9322965 14:21324652:G:A 14 21324652 G A 14:21792811 0.98298 0.261614 24870 71244 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of lower leg 7.59e-05 -0.1326 0.0335 Idiopathic pulmonary fibrosis (attempt to specificity) 0.0002364 0.276 0.075 RPGRIP1 rs181758389 14:21326018:G:A 14 21326018 G A 14:21794177 0.945361 394 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypermobility syndrome 0.000474 4.3258 1.2378 RPGRIP1 rs3748361 14:21328625:G:C 14 21328625 G C 14:21796784 0.992402 0.407781 61418 88396 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Pituitary gland, craniopharyngeal duct (other cancers excluded from controls) 8.75e-05 0.247 0.063 Follow-up examination after treatment for conditions other than malignant neoplasms 0.00027 0.055 0.015 RPGRIP1 rs768759217 14:21351187:AAGG:A 14 21351187 AAGG A 14:21819346 0.935022 499 inframe_indel unknown not provided not_provided no assertion provided none Substance abuse 0.000122 0.8624 0.2245 CHD8 rs765016238 14:21386130:A:G 14 21386130 A G 14:21854289 0.941242 117 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified spondylopathies 0.000433 12.7942 3.6354 CHD8 rs149307240 14:21392628:C:T 14 21392628 C T 14:21860787 0.928958 0.00111599 2 408 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia due to Parkinsons disease 2.33e-05 11.0912 2.6216 CHD8 rs191366877 14:21409853:C:T 14 21409853 C T 14:21878012 0.968295 247 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maltreatment syndromes 0.00214 4.9127 1.6001 CHD8 rs10467770 14:21431472:C:T 14 21431472 C T 14:21899631 0.995082 68565 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Soft tissue disorders related to use, overuse and pressure 0.000381 -0.1063 0.0299 Injuries to the knee and lower leg 0.0002859 -0.054 0.015 SALL2 rs144885457 14:21525225:G:A 14 21525225 G A 14:21993359 0.856653 1877 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 0.000521 0.605 0.1744 Dysplasia of cervi uteri 0.0005411 14.7 4.249 OXA1L rs143046719 14:22771029:G:T 14 22771029 G T 14:23240238 0.964766 336 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of abdomen, lower back and pelvis 0.000237 2.7566 0.75 OXA1L rs148216086 14:22771504:T:TAGC 14 22771504 T TAGC 14:23240713 0.989414 64756 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erosion and ectropion of cervix uteri 0.000984 0.2822 0.0856 Visual field defects 0.0004902 0.274 0.078 SLC7A7 rs201550655 14:22773957:G:A 14 22773957 G A 14:23243166 0.967488 252 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Mycoses 0.000459 2.0643 0.5892 SLC7A7 rs199522527 14:22773962:T:A 14 22773962 T A 14:23243171 0.966012 241 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Mycoses 0.000312 2.1982 0.6097 SLC7A7 rs139415285 14:22773982:G:C 14 22773982 G C 14:23243191 0.996139 975 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Gout, FINNGEN 0.000395 1.0618 0.2997 SLC7A7 rs146582474 14:22775938:T:A 14 22775938 T A 14:23245147 0.923326 1236 pLoF recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Lysinuric protein intolerance All influenza (not pneumonia) 0.00064 1.026 0.3005 Anaemias 0 34.414 0 SLC7A7 rs11568438 14:22813127:G:A 14 22813127 G A 14:23282336 0.999318 8997 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lysinuric protein intolerance;not specified Eustachian salpingitis and obstruction 0.000344 0.5279 0.1475 Otosclerosis 0.001232 2.152 0.666 PSMB11 rs34457782 14:23042370:G:A 14 23042370 G A 14:23511579 0.941359 4921 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain (limb, back, neck, head abdominally) 0.000947 -0.1013 0.0306 Other malignant neoplasms of skin (=non-melanoma skin cancer) 0.0004614 1.479 0.422 PSMB11 rs1050589259 14:23042460:GC:G 14 23042460 GC G 14:23511669 0.988463 5773 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of muscles 0.000212 0.6431 0.1736 Other disorders of binocular vision 0.0007546 12.146 3.605 PSMB11 rs149885629 14:23042832:G:A 14 23042832 G A 14:23512041 0.967014 1586 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other CVD 0.000124 1.1386 0.2966 0.000293 3.463 0.956 CEBPE rs141903485 14:23118629:G:T 14 23118629 G T 14:23587838 0.954726 6877 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Specific granule deficiency Crohn disease 0.00089 -0.4645 0.1398 Other and unspecified diseases of blood and blood-forming organs 0.0008711 11.797 3.543 PABPN1 rs188436762 14:23321655:G:A 14 23321655 G A 14:23790864 0.985298 6338 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to medical facilities and other health care 0.000363 0.8475 0.2377 Background retinopathy and retinal vascular changes 7.313e-05 11.81 2.978 SLC22A17 rs146673692 14:23351954:G:A 14 23351954 G A 14:23821163 0.976352 9232 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of mouth and pharynx 0.000337 0.4584 0.1279 Sixth [abducent] nerve palsy 0.0003517 6.968 1.95 IL25 rs1124053 14:23375770:C:T 14 23375770 C T 14:23844979 0.901573 673 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis of knee 0.000415 7.6401 2.1642 IL25 rs148309201 14:23375867:G:A 14 23375867 G A 14:23845076 0.951779 389 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Femoral hernia, unilateral 0.00106 6.1238 1.8701 MYH6 rs201827489 14:23387585:G:A 14 23387585 G A 14:23856794 0.974423 245 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypertrophic cardiomyopathy 14;Hemiplegia;Migraine;Primary dilated cardiomyopathy Abnormal findings on diagnostic imaging of breast 0.000171 19.7219 5.2484 Gestational [pregnancy-induced] oedema and proteinuria without hypertension 0.0005934 111.411 32.438 MYH6 rs34935550 14:23389488:C:G 14 23389488 C G 14:23858697 0.849555 114 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of nerves at wrist and hand level 0.00042 12.1467 3.4438 MYH6 rs28730771 14:23390401:C:T 14 23390401 C T 14:23859610 0.969198 27525 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial septal defect;Cardiomyopathy;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;not specified Calcaneal spur 0.000129 0.9166 0.2394 0.0002711 0.436 0.12 MYH6 rs267606904 14:23392968:C:G 14 23392968 C G 14:23862177 0.961577 326 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypertrophic cardiomyopathy 14;Hemiplegia;Hypertrophic cardiomyopathy;Migraine;Primary dilated cardiomyopathy;not specified Other or unspecified ileus, impaction or obstruction 0.000309 2.2769 0.6312 Gestational [pregnancy-induced] oedema and proteinuria without hypertension 0.0005934 111.411 32.438 MYH6 rs143978652 14:23393437:C:A 14 23393437 C A 14:23862646 0.95965 0.000694089 0 255 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Convalescence 8.42e-05 4.9581 1.2609 MYH6 rs142992009 14:23398856:T:G 14 23398856 T G 14:23868065 0.98404 1040 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Presence of other devices 0.00178 0.9788 0.3132 MYH6 rs142027794 14:23404731:C:T 14 23404731 C T 14:23873940 0.979721 353 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute laryngitis and tracheitis 0.000906 1.952 0.5883 Disorders of lens 5.627e-06 3.025 0.666 MYH6 rs28711516 14:23407058:C:T 14 23407058 C T 14:23876267 0.986739 17707 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial septal defect;Cardiovascular phenotype;Dilated Cardiomyopathy, Dominant;Hypertrophic cardiomyopathy;not provided;not specified Benign neoplasm: Other/unspecified site 0.000317 0.9452 0.2625 Gastro-oesophageal reflux disease 0.0003981 0.372 0.105 MYH6 rs587782959 14:23407157:G:A 14 23407157 G A 14:23876366 0.91807 129 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Antenatal screening 0.00016 1.5881 0.4206 MYH7 rs3729823 14:23417200:G:C 14 23417200 G C 14:23886409 0.971746 961 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Suppurative and necrotic conditions of lower respiratory tract 0.00136 2.4618 0.7688 MYH7 rs199573700 14:23422309:T:C 14 23422309 T C 14:23891518 0.925257 272 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic hepatitis NAS 0.00102 10.1105 3.0785 MYH7 rs145532615 14:23423701:A:G 14 23423701 A G 14:23892910 0.913321 254 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Emotional disorders starting during childhood or adolecense (more controls excluded) 0.000737 6.4044 1.8974 ZFHX2 rs61977703 14:23524936:G:A 14 23524936 G A 14:23994145 0.99198 0.0228233 126 8259 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gestational [pregnancy-induced] oedema and proteinuria without hypertension 5.04e-05 1.1481 0.2832 7.692e-05 0.658 0.166 DHRS2 rs45599632 14:23639288:G:A 14 23639288 G A 14:24108497 0.805356 2102 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other cataract 0.000245 0.4951 0.135 Other bursitis of knee 0.0008961 77.025 23.191 DHRS4 rs1043650 14:23966355:C:T 14 23966355 C T 14:24435564 0.902323 1612 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other functional intestinal disroders 0.000573 -0.5265 0.1529 Counselling related to sexual attitude, behaviour and orientation 0.0001723 215.014 57.237 PCK2 rs61752842 14:24096930:C:G 14 24096930 C G 14:24566139 0.954008 184 pLoF recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Thyroiditis, unspecified 0.00042 16.6166 4.7111 PCK2 rs35618680 14:24103603:G:A 14 24103603 G A 14:24572812 0.996165 32389 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Mixed and other personality disorders 0.00018 -0.2603 0.0695 Pyogenic arthritis 0.0003429 0.715 0.2 PCK2 rs111723834 14:24103723:G:A 14 24103723 G A 14:24572932 0.985644 2325 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma and opportunit respiratory infection 0.000667 1.6917 0.4971 0.001015 82.888 25.221 PCK2 rs61737098 14:24103797:G:A 14 24103797 G A 14:24573006 0.994005 693 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hereditary ataxia 0.000407 8.049 2.2766 REC8 rs34075659 14:24172747:C:T 14 24172747 C T 14:24641956 0.988947 0.00563165 22 2047 missense_variant unknown Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Amenorrhoea 7.33e-05 1.3662 0.3446 Occlusion and stenosis of arteries, not leading to stroke 0.001557 57.205 18.081 IPO4 rs114902352 14:24188730:G:A 14 24188730 G A 14:24657936 0.825245 0.000413732 0 152 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute gastritis 9.06e-05 6.2123 1.587 TINF2 rs202093758 14:24242259:C:G 14 24242259 C G 14:24711465 0.978825 2683 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyskeratosis Congenita, Dominant;Dyskeratosis congenita;Revesz syndrome Other and unspecified anaemias 0.000185 0.4895 0.1309 Acute appendicitis 8.077e-05 3.438 0.872 TGM1 rs199735949 14:24254975:C:G 14 24254975 C G 14:24724181 0.884405 740 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of choroid 0.000722 6.8537 2.027 TGM1 rs142404759 14:24255450:T:C 14 24255450 T C 14:24724656 0.975839 2108 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autosomal recessive congenital ichthyosis 1;not provided Epilepsy 0.00024 0.5273 0.1436 Secondary hypertension 0.001488 8.191 2.578 TGM1 rs35312232 14:24255457:C:T 14 24255457 C T 14:24724663 0.994397 6215 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive congenital ichthyosis 1;not specified Cholelithiasis 0.000129 -0.196 0.0512 Diseases of arteries, arterioles and capillaries 1.919e-05 2.003 0.469 TGM1 rs121918721 14:24258646:C:A 14 24258646 C A 14:24727852 0.969682 0.000555271 0 204 missense_variant recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Hypertensive Renal Disease 9.7e-05 7.9533 2.0404 TGM1 rs121918731 14:24259769:G:C 14 24259769 G C 14:24728975 0.89226 242 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic conjunctivitis 0.00108 8.3419 2.5521 TGM1 rs41295338 14:24262228:G:T 14 24262228 G T 14:24731434 0.954299 2539 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal recessive congenital ichthyosis 1;not provided;not specified Suppurative and necrotic conditions of lower respiratory tract 0.000852 1.4537 0.4359 Pyothorax 0.0001357 24.703 6.474 TGM1 rs140542428 14:24262292:T:C 14 24262292 T C 14:24731498 0.878446 75 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteonecrosis 0.000195 16.4424 4.4133 LTB4R rs34645221 14:24315886:G:T 14 24315886 G T 14:24785092 0.979374 2060 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of respiratory system and intrathoracic organs (other cancers excluded from controls) 0.00117 0.7783 0.2397 Acute and subacute iridocyclitis 4.392e-05 11.502 2.815 RIPK3 rs114872465 14:24337408:G:A 14 24337408 G A 14:24806614 0.990878 718 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Oher diseases of blood and blood-forming organs 0.000821 2.7732 0.8289 NYNRIN rs145306004 14:24409715:A:C 14 24409715 A C 14:24878921 0.99256 3822 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute renal failure 0.000769 0.6261 0.1861 Fracture at wrist and hand level 0.001209 2.8 0.865 CMA1 rs5246 14:24507429:C:G 14 24507429 C G 14:24976635 0.975466 0.00924908 38 3360 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of alcohol 4.79e-05 2.0448 0.503 Disorders of porphyrin and bilirubin metabolism 0.002142 42.869 13.965 CTSG rs45567233 14:24574465:T:C 14 24574465 T C 14:25043671 0.999621 27274 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Contact with and exposure to communicable diseases 0.000163 0.331 0.0878 Lesion of ulnar nerve 0.0001923 0.651 0.175 GZMB rs74345106 14:24631185:G:T 14 24631185 G T 14:25100391 0.987745 4284 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical observation and evaluation for suspected diseases and conditions 0.000152 0.1909 0.0504 Other skin changes 0.003021 6.259 2.11 GZMB rs11539752 14:24632383:G:C 14 24632383 G C 14:25101589 0.999056 59053 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.000831 0.0471 0.0141 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.0001371 0.077 0.02 COCH rs1045644 14:30885890:C:G 14 30885890 C G 14:31355096 0.976405 84311 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute otitis externa, noninfective 0.000284 -0.3937 0.1085 Other disorders of breast and lactation associated with childbirth 0.0005673 -0.317 0.092 COCH rs61759484 14:30886105:T:G 14 30886105 T G 14:31355311 0.965101 691 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pathological/recurrent dislocation and subluxation of joint, not elsewhere classified 0.000419 2.0314 0.5758 COCH rs139503327 14:30886183:A:G 14 30886183 A G 14:31355389 0.994297 457 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 0.00021 0.9206 0.2484 NUBPL rs201430951 14:31599308:T:C 14 31599308 T C 14:32068514 0.817536 79 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services in circumstances related to reproduction 0.000459 -1.1715 0.3344 NUBPL rs61752327 14:31787811:T:C 14 31787811 T C 14:32257017 0.987609 1283 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mitochondrial complex I deficiency;not provided;not specified Cystic kidney disease 0.000399 2.4959 0.7049 Von Willebrand disease 0.0004519 167.415 47.727 NUBPL rs11558436 14:31787859:A:C 14 31787859 A C 14:32257065 0.953913 2813 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mitochondrial complex I deficiency;not provided Hyperfunction of pituitary gland 0.000677 1.2065 0.355 Other meningitis 0.0007292 105.366 31.189 AKAP6 rs35210906 14:32546325:A:G 14 32546325 A G 14:33015531 0.981772 6429 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other secondary coxarthrosis 0.00084 1.0751 0.322 Seropositive rheumatoid arthritis, strict definition 0.001014 4.756 1.447 AKAP6 rs34572259 14:32600736:G:A 14 32600736 G A 14:33069942 0.873287 354 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Severe diabetic background retinopathy 0.000367 5.7739 1.6208 Congenital malformations of cardiac septa 0.001933 66.814 21.551 PAX9 rs4904210 14:36666548:G:C 14 36666548 G C 14:37135753 0.992034 81106 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Undetermined asthma (more controls excluded) 0.000756 0.1444 0.0429 Glaucoma suspect 0.0002674 -0.104 0.029 SEC23A rs8018720 14:39086981:G:C 14 39086981 G C 14:39556185 0.998275 46416 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of cardiac and vascular prosthetic devices, implants and grafts 0.000203 0.541 0.1456 Complications of cardiac and vascular prosthetic devices, implants and grafts 0.0002423 0.301 0.082 SEC23A rs144765020 14:39091580:A:G 14 39091580 A G 14:39560784 0.998138 1629 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of eyelid in diseases classified elsewhere 0.00249 1.7646 0.5835 Abnormal findings on examination of blood, without diagnosis 0.0001276 8.323 2.173 PNN rs145307846 14:39181285:G:A 14 39181285 G A 14:39650489 0.996824 0.00751522 42 2719 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Iridocyclitis 2.76e-05 0.6973 0.1663 Benign neoplasm of other and unspecified sites (other cancers excluded from controls) 0.0001725 23.712 6.313 FANCM rs148017562 14:45136194:G:A 14 45136194 G A 14:45605397 0.969513 0.000773025 0 284 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Multiple delivery 3.54e-05 5.8007 1.4027 FANCM rs142007602 14:45136202:G:C 14 45136202 G C 14:45605405 0.987329 340 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Macular hole 0.00024 6.6022 1.7978 FANCM rs61746895 14:45136260:A:G 14 45136260 A G 14:45605463 0.996836 760 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter KELA_REIMBURSEMENT_202 0.000554 0.6412 0.1857 FANCM rs10138997 14:45137084:C:T 14 45137084 C T 14:45606287 0.996027 29535 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Hypertensive heart and/or renal disease 0.00113 -0.149 0.0458 Other enthesopathies 0.0002226 0.333 0.09 FANCM rs77374493 14:45137087:C:T 14 45137087 C T 14:45606290 0.995391 3903 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fanconi anemia;not specified Schizoaffective disorder 0.000452 -0.7179 0.2047 Other noninflammatory disorders of vulva and perineum 0.000348 6.404 1.791 FANCM rs368937236 14:45137107:A:C 14 45137107 A C 14:45606310 0.970801 226 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bacterial, viral and other infectious agents 0.00103 3.626 1.1051 FANCM rs45547534 14:45137184:A:G 14 45137184 A G 14:45606387 0.979528 2282 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Gonarthrosis,primary 0.000966 0.274 0.083 Episodal and paroxysmal disorders 0.0001283 2.436 0.636 FANCM rs144215747 14:45159275:C:G 14 45159275 C G 14:45628478 0.955102 241 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified nonorganic psychotic disorders 0.000532 2.0834 0.6014 FANCM rs61753893 14:45167125:A:G 14 45167125 A G 14:45636328 0.996893 0.00957843 36 3483 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fanconi anemia;not specified Other and unspecified trigeminal disorders 6.01e-05 2.5711 0.6408 Acute alcohol intoxication 0.0007581 4.983 1.48 FANCM rs1367580 14:45175386:G:T 14 45175386 G T 14:45644589 0.992784 39040 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes with peripheral circulatory complications 0.00078 -0.4274 0.1272 Other enthesopathies 0.0002476 0.246 0.067 FANCM rs148871932 14:45175503:A:G 14 45175503 A G 14:45644706 0.956026 544 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Macular hole 0.00234 3.4926 1.1475 Burn and corrosion confined to eye and adnexa 0.00074 110.785 32.832 FANCM rs45604036 14:45176512:A:G 14 45176512 A G 14:45645715 0.996415 17343 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Inflammatory disorders of male genital organs, not elsewhere classified 0.000917 0.9729 0.2935 Other symptoms and signs involving the circulatory and respiratory systems 0.0004401 1.829 0.52 FANCM rs199895244 14:45176838:G:A 14 45176838 G A 14:45646041 0.96664 679 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other special examinations and investigations of persons without complaint or reported diagnosis 0.00125 -0.3152 0.0977 Non-rheumatic valve diseases 4.005e-05 6.485 1.579 FANCM rs78211950 14:45181697:A:G 14 45181697 A G 14:45650900 0.993062 38069 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes with peripheral circulatory complications 0.00125 -0.4161 0.1289 Other enthesopathies 0.0004249 0.244 0.069 FANCM rs61746943 14:45188821:C:T 14 45188821 C T 14:45658024 0.992106 14785 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Other bacterial diseases 0.000685 0.1019 0.03 Tibial collateral bursitis [Pellegrini-Stieda] 0.0004328 6.552 1.862 FANCM rs147021911 14:45189123:C:T 14 45189123 C T 14:45658326 0.988434 3874 pLoF recessive Likely pathogenic, risk factor risk factor criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;PREMATURE OVARIAN FAILURE 15;SPERMATOGENIC FAILURE 28;not provided Malignant neoplasm, without specification of site (other cancers excluded from controls) 0.000365 1.5302 0.4293 Other erythematous conditions 0.0001111 29.636 7.668 FANCM rs143662421 14:45189246:A:G 14 45189246 A G 14:45658449 0.995917 2027 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fanconi anemia;not provided;not specified Type 2 diabetes without complications 0.000707 0.356 0.1051 Idiopathic urticaria 0.001498 60.763 19.137 FANCM rs3736772 14:45196265:C:G 14 45196265 C G 14:45665468 0.990975 39101 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot foot 0.00208 -0.6818 0.2214 Other enthesopathies 0.001488 0.211 0.067 FANCM rs45557033 14:45196458:A:G 14 45196458 A G 14:45665661 0.992272 17190 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Ulcerative enterocolitis 0.00155 0.5371 0.1697 Other symptoms and signs involving the circulatory and respiratory systems 8.79e-05 2.133 0.544 FANCM rs144567652 14:45198718:C:T 14 45198718 C T 14:45667921 0.986424 1019 pLoF recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Fanconi anemia;Malignant germ cell tumor of ovary;SPERMATOGENIC FAILURE 28 Alzheimer's disease (Atypical or mixed) (more controls excluded) 0.00049 1.972 0.5657 Cough 0.0004878 11.808 3.386 MIS18BP1 rs138267500 14:45242785:C:T 14 45242785 C T 14:45711988 0.957886 537 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other nutritional anaemias 0.00249 7.194 2.3788 Burn and corrosion confined to eye and adnexa 0.0006157 125.176 36.552 MGAT2 rs117536357 14:49622001:G:C 14 49622001 G C 14:50088719 0.944521 0.00046817 0 172 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Stenosis and insufficiency of lacrimal passages 3.66e-05 5.827 1.4116 DNAAF2 rs9989177 14:49625753:T:C 14 49625753 T C 14:50092471 0.999968 90134 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis 0.000321 0.0708 0.0197 Retinal detachment with retinal break 0.001577 0.088 0.028 DNAAF2 rs80237479 14:49625880:T:C 14 49625880 T C 14:50092598 0.99459 1658 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Haemorrhage from respiratory passages 0.000984 0.563 0.1709 Sixth [abducent] nerve palsy 0.0008996 92.308 27.802 DNAAF2 rs150737854 14:49633744:C:T 14 49633744 C T 14:50100462 0.97547 0.00782824 30 2846 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified Other medical care 9.28e-05 0.6751 0.1727 Leiomyoma of uterus (other cancers excluded from controls) 0.0003234 1.843 0.513 DNAAF2 rs202079418 14:49633745:A:T 14 49633745 A T 14:50100463 0.980303 0.00698172 42 2523 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia Other specified/unspecified dorsopathies 3.11e-05 2.1546 0.5172 Complications of genitourinary prosthetic devices, implants and grafts 4.142e-05 44.241 10.792 DNAAF2 rs549781788 14:49634818:C:G 14 49634818 C G 14:50101536 0.882743 258 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other gastritis (incl. Duodenitis) 0.000123 2.1531 0.5607 DNAAF2 rs2985684 14:49634964:C:G 14 49634964 C G 14:50101682 0.997541 64467 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of pericardium 0.00077 -0.3289 0.0978 Other diseases of pericardium 0.0003888 -0.209 0.059 POLE2 rs34000915 14:49650348:A:G 14 49650348 A G 14:50117066 0.99933 8176 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anxious personality disorder 0.000943 1.0941 0.3309 Abnormal serum enzyme levels 0.0001365 1.637 0.429 SOS2 rs146802994 14:50118513:A:G 14 50118513 A G 14:50585231 0.996769 724 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Noonan syndrome 9 Carcinoma in situ of skin of lower limb, including hip (other cancers excluded from controls) 0.000632 7.1509 2.0925 Erosion and ectropion of cervix uteri 0.004788 20.924 7.417 SOS2 rs61755579 14:50188589:C:T 14 50188589 C T 14:50655307 0.976563 6230 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Noonan syndrome 9;not provided Follow-up examination after treatment for conditions other than malignant neoplasms 0.000898 -0.2076 0.0625 Paranoid personality disorder 0.001332 8.982 2.799 SOS2 rs72681869 14:50188639:G:C 14 50188639 G C 14:50655357 0.882488 568 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Sigmoid colon 0.00052 1.9688 0.5673 SOS2 rs137961578 14:50188662:C:G 14 50188662 C G 14:50655380 0.982976 136 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Poisoning by medicine 0.000531 2.9354 0.8472 L2HGDH rs2275591 14:50312098:A:C 14 50312098 A C 14:50778816 0.999503 88092 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Small cell lung cancer 0.000775 -0.3925 0.1168 Lichen simplex chronicus and prurigo 0.0005835 -0.143 0.042 L2HGDH rs148241854 14:50312143:G:A 14 50312143 G A 14:50778861 0.978455 539 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ischaemic heart disease, wide definition 0.000642 0.529 0.155 NIN rs141405524 14:50729605:C:T 14 50729605 C T 14:51196323 0.95317 148 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Visual disturbances and blindness 0.0022 1.4837 0.4845 NIN rs200441923 14:50729689:G:T 14 50729689 G T 14:51196407 0.994509 3330 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degeneration of macula and posterior pole 0.000417 -0.4065 0.1152 Other contact dermatitis 3.321e-05 14.13 3.405 NIN rs2295847 14:50735593:G:C 14 50735593 G C 14:51202311 0.998157 43056 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pilonidal cyst 0.00144 -0.202 0.0634 Infections of genitourinary tract in pregnancy 0.0003192 0.659 0.183 NIN rs12717411 14:50739427:A:T 14 50739427 A T 14:51206145 0.98424 7097 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Ventral hernia 0.000181 -0.3809 0.1018 Labour and delivery complicated by intrapartum haemorrhage, not elsewhere classified 0.0007406 12.332 3.655 NIN rs61755995 14:50752631:G:A 14 50752631 G A 14:51219349 0.976489 689 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Other and unspecified injuries of lower leg 0.00026 3.0518 0.8355 Schizoid personality disorder 0.0004935 335.675 96.34 NIN rs41299193 14:50756742:T:A 14 50756742 T A 14:51223460 0.968478 681 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Manic episode 0.000198 3.0724 0.8254 NIN rs2073347 14:50757071:C:T 14 50757071 C T 14:51223789 0.996019 81050 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholangitis (primary sclerosing, PSC) 0.00185 0.2036 0.0654 Appendicitis, broad definition 0.00111 0.03 0.009 NIN rs12882191 14:50757656:T:G 14 50757656 T G 14:51224374 0.996199 81005 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholangitis (primary sclerosing, PSC) 0.00165 0.2059 0.0654 Appendicitis, broad definition 0.0009696 0.03 0.009 NIN rs2236316 14:50757699:G:C 14 50757699 G C 14:51224417 0.994852 0.208635 16096 60554 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria Cerebral palsy and other paralytic syndromes 5.17e-05 -0.1898 0.0469 Impacted cerumen 0.0005184 0.363 0.104 NIN rs78280523 14:50757833:A:T 14 50757833 A T 14:51224551 0.995252 1595 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Vestibular neuronitis 0.000252 1.4169 0.3871 0.0001188 4.248 1.104 NIN rs41313507 14:50758043:G:A 14 50758043 G A 14:51224761 0.965463 308 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other/unspecified synovitis and tenosynovitis 0.000677 2.549 0.75 NIN rs41299191 14:50758379:T:C 14 50758379 T C 14:51225097 0.981249 4198 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Alcohol abuse counselling and surveillance 0.000165 3.0176 0.801 Other/unspecified soft tissue disorders related to use, overuse and pressure 0.0007973 11.902 3.549 PYGL rs34313873 14:50905520:T:A 14 50905520 T A 14:51372238 0.994947 4674 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease, type VI;not specified Symptoms and signs involving the urinary system 0.00157 -0.1919 0.0607 Other and unspecidied mood [affective] disorders 0.0004251 15.688 4.452 PYGL rs35026927 14:50911799:C:G 14 50911799 C G 14:51378517 0.976009 0.0021231 4 776 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Glycogen storage disease, type VI;not provided;not specified Dermatitis and eczema 9.75e-05 0.5419 0.1391 Human immunodeficiency virus [HIV] disease 0.0001641 408.302 108.34 PYGL rs11356035 14:50911872:CT:C 14 50911872 CT C 14:51378590 0.99879 0.360352 47948 84441 pLoF recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bacterial meningitis 4.87e-05 -0.2856 0.0703 Malignant neoplasm of larynx 0.001441 0.402 0.126 PYGL rs144989341 14:50912167:G:A 14 50912167 G A 14:51378885 0.969714 187 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorder of external ear, unspecified 0.000956 9.958 3.0148 PYGL rs143759519 14:50915919:G:A 14 50915919 G A 14:51382637 0.948838 0.00371814 2 1364 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inguinal hernia 1.53e-05 0.4997 0.1156 PYGL rs946616 14:50921064:C:T 14 50921064 C T 14:51387782 0.99888 21397 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease, type VI;not provided;not specified Vasomotor rhinitis (mode) 0.00366 0.3181 0.1095 Drug-induced osteoporosis with pathological fracture 0.0003422 4.223 1.179 PYGL rs34096980 14:50924018:T:C 14 50924018 T C 14:51390736 0.98607 1204 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glycogen storage disease, type VI;not provided;not specified Other pulmonary heart/vessel disease 0.000544 2.6645 0.7705 0.0002595 3.527 0.965 NID2 rs150908602 14:52029681:T:C 14 52029681 T C 14:52496399 0.960923 0.00165493 2 606 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with other specified/multiple/unspecified complications 1.1e-05 0.7277 0.1655 NID2 rs111989036 14:52042883:C:T 14 52042883 C T 14:52509601 0.995682 1442 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other noninfective disordersof lymphatic vessels and lymph nodes 0.000716 2.8427 0.8402 Dry age-related macular degeneration (includes geographic atrophy) 0.004231 19.507 6.82 NID2 rs137941862 14:52053584:G:A 14 52053584 G A 14:52520302 0.981705 4832 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lens 0.000882 -0.1798 0.0541 Acute bronchiolitis 9.1e-05 9.438 2.412 PTGER2 rs111965614 14:52314795:T:G 14 52314795 T G 14:52781513 0.973837 514 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ovarian cyst 0.000239 0.8423 0.2293 DDHD1 rs140904345 14:53152762:T:TGCCGCC 14 53152762 T TGCCGCC 14:53619480 0.85674 58645 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormal immunological findings in serum 0.000121 -0.5475 0.1425 Other specified/unspecified inflammatory spondylopathies 0.0007057 -0.173 0.051 DDHD1 rs140904345 14:53152762:T:TGCCGCCGCC 14 53152762 T TGCCGCCGCC 14:53619480 0.98578 20303 inframe_indel recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Biomechanical lesions, not elsewhere classified 0.00093 0.4931 0.1489 Faecal incontinence 0.001161 1.032 0.318 DDHD1 rs117525276 14:53152782:C:G 14 53152782 C G 14:53619500 0.987108 18619 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Cardiac arrhytmias, COPD co-morbidities 0.000456 -0.0911 0.026 Male infertility 5.121e-05 2.735 0.675 DDHD1 rs61985140 14:53152963:C:T 14 53152963 C T 14:53619681 0.979856 0.0212037 212 7578 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 28, autosomal recessive;not specified Other eating disorders 5.1e-05 0.849 0.2096 Postmenopausal atrophic vaginitsi 8.54e-06 10.117 2.273 BMP4 rs17563 14:53950804:A:G 14 53950804 A G 14:54417522 0.998051 86907 stop_lost dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary angle-closure glaucoma 0.000126 0.2622 0.0684 Primary angle-closure glaucoma 0.0003153 0.174 0.048 BMP4 rs72680532 14:53951825:C:T 14 53951825 C T 14:54418543 0.956212 8486 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Dyspnoea 0.00111 0.1451 0.0445 Female infertility, tubal origin 0.0003363 4.404 1.228 CGRRF1 rs34839928 14:54531033:C:T 14 54531033 C T 14:54997751 0.932029 0.00446939 24 1618 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of forearm 9.26e-05 -0.5254 0.1344 Background diabetic retinopathy 0.0009881 15.948 4.842 GCH1 rs104894436 14:54845808:C:A 14 54845808 C A 14:55312526 0.908377 178 missense_variant both Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Other conjunctival vascular disorders and cysts 0.000216 14.9882 4.0519 GCH1 rs41298432 14:54902596:G:A 14 54902596 G A 14:55369314 0.966816 408 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontraumatic intracranial haemmorrhage 0.00024 2.1009 0.572 KTN1 rs137964512 14:55617996:A:G 14 55617996 A G 14:56084714 0.855892 92 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contracture of joint 0.00077 23.5256 6.9947 PELI2 rs117504135 14:56290386:G:A 14 56290386 G A 14:56757104 0.967065 5057 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Bronchus and lung (other cancers excluded from controls) 0.000659 2.4185 0.7101 Benign neoplasm of male genital organs 0.0005651 14.271 4.139 TMEM260 rs113277637 14:56625394:G:A 14 56625394 G A 14:57092112 0.992183 0.00372903 14 1356 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Impotence 5.7e-05 2.8455 0.707 Other or unspecified ileus, impaction or obstruction 0.001255 7.651 2.372 C14orf105 rs34960436 14:57480703:G:A 14 57480703 G A 14:57947421 0.997665 11262 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other special examinations and investigations of persons without complaint or reported diagnosis 0.000118 0.0926 0.0241 Abscess of lung 0.000107 10.355 2.673 ARID4A rs62621193 14:58365301:G:A 14 58365301 G A 14:58832019 0.997426 1735 pLoF unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Ankylosing hyperostosis [Forestier] 0.000657 4.0437 1.1868 Diverticular disease of intestine 0 11.757 0 KIAA0586 rs202124602 14:58428328:C:T 14 58428328 C T 14:58895046 0.971711 263 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unsepcified mononeuropathies, also in other diseases 0.000908 6.3783 1.9226 KIAA0586 rs555421894 14:58428357:T:TC 14 58428357 T TC 14:58895075 0.994026 303 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes, opthalmic co-morbidities 0.00177 5.1464 1.646 KIAA0586 rs534542684 14:58432438:AG:A 14 58432438 AG A 14:58899156 0.970238 0.00111871 0 411 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular diseases (excluding rheumatic etc) 1.68e-05 -0.5627 0.1308 KIAA0586 rs61735931 14:58442717:T:C 14 58442717 T C 14:58909435 0.993557 2487 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome 23;Short-rib thoracic dysplasia 14 with polydactyly;not provided Crohn disease ( strict definition, require KELA, min 2 HDR) 0.000266 1.4758 0.4047 Atrophic disorders of skin 0.0008895 10.754 3.236 KIAA0586 rs144456198 14:58450591:A:T 14 58450591 A T 14:58917309 0.918977 268 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gluteal tendinitis 0.00253 7.1678 2.3734 KIAA0586 rs77860620 14:58482672:G:A 14 58482672 G A 14:58949390 0.957925 228 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified local infections of skin and subcutaneous tissue 0.00226 3.6826 1.2058 KIAA0586 rs190271845 14:58488812:T:C 14 58488812 T C 14:58955530 0.99551 6693 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Joubert syndrome 23;Short-rib thoracic dysplasia 14 with polydactyly Emotional disorders and disorders of social functioning with onset specific to childhood 0.00126 0.7062 0.2189 Perforation of tympanic membrane 0.0004758 3.83 1.096 KIAA0586 rs201929144 14:58492265:A:G 14 58492265 A G 14:58958983 0.991989 213 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Excessive vomiting in pregnancy 0.00251 4.6465 1.5375 KIAA0586 rs45568037 14:58547845:G:A 14 58547845 G A 14:59014563 0.973781 6921 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Joubert syndrome 23;Short-rib thoracic dysplasia 14 with polydactyly Other acute viral hepatitis 0.000121 2.0315 0.5286 Infections of genitourinary tract in pregnancy 3.552e-05 9.066 2.193 DACT1 rs200977826 14:58646658:T:C 14 58646658 T C 14:59113376 0.965472 906 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications predominantly related to the puerperium 0.000366 1.3386 0.3756 Disorders of eyelid, lacrimal system and orbit 0.0007642 4.225 1.255 SIX6 rs146737847 14:60509783:G:A 14 60509783 G A 14:60976501 0.965273 1960 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cataract, microphthalmia and nystagmus;Microphthalmia syndromic 3;not provided Examination and encounter for administrative purposes 0.00129 3.6215 1.1256 Disorders of synovium and tendon 0.001253 3.211 0.995 SIX6 rs33912345 14:60509819:C:A 14 60509819 C A 14:60976537 0.998812 0.709283 185600 74982 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Normotensive glaucoma 1.18e-08 -0.3609 0.0633 Normotensive glaucoma 8.887e-08 -0.216 0.04 SIX6 rs45549246 14:60511125:T:G 14 60511125 T G 14:60977843 0.993799 2070 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cataract, microphthalmia and nystagmus Transport accidents 0.00241 2.5023 0.8247 Other vitreous opacities 0.0008763 93.567 28.119 TRMT5 rs114570574 14:60975158:G:A 14 60975158 G A 14:61441876 0.950426 158 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinal osteochondrosis 0.000116 24.8311 6.4429 Spinal osteochondrosis 0.0002589 273.648 74.905 TRMT5 rs45604437 14:60975636:G:A 14 60975636 G A 14:61442354 0.991069 1666 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Effects of foreign body entering through natural orifice 0.000245 0.7179 0.1957 Schizotypal disorder 0.0009608 86.568 26.219 TRMT5 rs115400838 14:60979429:T:A 14 60979429 T A 14:61446147 0.996209 5715 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of neck 0.000187 1.0324 0.2764 Other diseases of gallbladder 9.182e-05 10.551 2.698 PRKCH rs2230500 14:61457521:G:A 14 61457521 G A 14:61924239 0.996041 10133 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Cerebral infarction, susceptibility to Other headache syndromes 0.00231 0.1708 0.056 Malignant neoplasm of larynx 8.375e-05 11.265 2.864 HIF1A rs41508050 14:61738090:C:T 14 61738090 C T 14:62204808 0.924557 415 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Achalasia of cardia 0.000201 8.6334 2.322 HIF1A rs149348765 14:61738101:G:T 14 61738101 G T 14:62204819 0.843678 175 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Subacute thyroiditis 0.00126 8.8995 2.76 SYNE2 rs9944035 14:63981058:T:C 14 63981058 T C 14:64447776 0.996755 28499 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Maternal care for other conditions predominantly related to pregnancy 0.000357 -0.1876 0.0525 0.002081 0.391 0.127 SYNE2 rs192061494 14:63982666:C:T 14 63982666 C T 14:64449384 0.95599 161 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative colitis ( strict definition, require KELA) 0.00019 3.6105 0.9676 SYNE2 rs34449017 14:63991029:C:G 14 63991029 C G 14:64457747 0.98856 439 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified disorders of skin and subcutaneous tissue 0.000312 2.7068 0.7509 SYNE2 rs192128801 14:63997383:A:G 14 63997383 A G 14:64464101 0.986877 523 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Peroneal tendinitis 0.000952 9.9747 3.0188 SYNE2 rs17751301 14:64003110:C:T 14 64003110 C T 14:64469828 0.996318 16124 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;not specified Portal vein thrombosis 0.000193 1.3148 0.3527 Other special examinations and investigations of persons without complaint or reported diagnosis 0.0003417 -0.227 0.063 SYNE2 rs4902264 14:64024977:T:C 14 64024977 T C 14:64491695 0.993566 40251 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter malignant neoplasm of male genital organs 0.00144 -0.1091 0.0342 malignant neoplasm of male genital organs 0.001004 -0.062 0.019 SYNE2 rs201401811 14:64025240:C:T 14 64025240 C T 14:64491958 0.99613 950 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy False labour 0.00076 -0.6972 0.2071 Other disorders of choroid 0.0004309 176.008 49.996 SYNE2 rs772206760 14:64026664:A:G 14 64026664 A G 14:64493382 0.926858 225 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impingement syndrome of shoulder 0.000652 1.6543 0.4853 SYNE2 rs4027402 14:64030031:C:T 14 64030031 C T 14:64496749 0.993607 40282 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter malignant neoplasm of male genital organs 0.000945 -0.1131 0.0342 malignant neoplasm of male genital organs 0.0005554 -0.065 0.019 SYNE2 rs4027404 14:64031212:G:A 14 64031212 G A 14:64497930 0.994152 40283 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter malignant neoplasm of male genital organs 0.00123 -0.1106 0.0342 malignant neoplasm of male genital organs 0.0007661 -0.064 0.019 SYNE2 rs200842904 14:64031298:G:A 14 64031298 G A 14:64498016 0.975988 3330 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified DVT of lower extremities 0.000228 -0.4935 0.1339 Combined immunodeficiencies 4.377e-05 45.054 11.025 SYNE2 rs45590135 14:64031299:A:G 14 64031299 A G 14:64498017 0.978102 219 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ischaemic heart disease, wide definition 0.000242 0.9923 0.2703 SYNE2 rs4027405 14:64031319:G:A 14 64031319 G A 14:64498037 0.993599 25384 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maternal care for other conditions predominantly related to pregnancy 0.00107 0.1823 0.0557 Maternal care for other conditions predominantly related to pregnancy 0.001101 0.096 0.03 SYNE2 rs201406395 14:64049839:A:G 14 64049839 A G 14:64516557 0.997549 4291 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emery-Dreifuss muscular dystrophy 5, autosomal dominant Other melanin hyperpigmentation 0.000215 1.9918 0.5382 Ptosis of eyelid 0.002778 6.055 2.024 SYNE2 rs11628107 14:64051603:A:G 14 64051603 A G 14:64518321 0.998277 17304 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Synovial hypertrophy, not elsewhere classified 0.000167 1.2471 0.3313 Synovial hypertrophy, not elsewhere classified 4.945e-05 7.141 1.76 SYNE2 rs190582637 14:64051811:A:G 14 64051811 A G 14:64518529 0.993741 642 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Heartburn 0.00036 2.5534 0.7156 SYNE2 rs1890908 14:64052317:A:G 14 64052317 A G 14:64519035 0.998654 20851 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of kidney, except renal pelvis 0.00164 -0.3403 0.1081 Malignant neoplasm of kidney, except renal pelvis 0.00103 -0.186 0.057 SYNE2 rs182683822 14:64052674:A:C 14 64052674 A C 14:64519392 0.99689 1343 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy Occlusion and stenosis of arteries, not leading to stroke 0.000632 4.0656 1.1897 Other and unspecified tonssillitis 0.001542 6.805 2.149 SYNE2 rs3829767 14:64052737:A:G 14 64052737 A G 14:64519455 0.998919 42722 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.00121 -0.2458 0.076 Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.000575 -0.146 0.042 SYNE2 rs34843668 14:64052991:A:T 14 64052991 A T 14:64519709 0.998325 17301 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Synovial hypertrophy, not elsewhere classified 0.00017 1.2453 0.3312 Synovial hypertrophy, not elsewhere classified 5.125e-05 7.076 1.747 SYNE2 rs200742016 14:64053143:C:T 14 64053143 C T 14:64519861 0.988238 393 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acquired absence of organs, not elsewhere classified 0.000494 12.4493 3.5735 SYNE2 rs138689053 14:64053260:A:G 14 64053260 A G 14:64519978 0.948078 0.00577319 20 2101 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;not specified Persons encountering health services for specific procedures, not carried out 3.89e-05 2.2243 0.5407 Keratoconus 0.001588 52.708 16.69 SYNE2 rs11847087 14:64053302:A:G 14 64053302 A G 14:64520020 0.995719 9122 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Somatoform disorder 0.000186 -0.3837 0.1027 Fracture of neck 0.000106 5.798 1.496 SYNE2 rs8010911 14:64055956:G:C 14 64055956 G C 14:64522674 0.9991 42661 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.00114 -0.2471 0.076 Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.0005374 -0.146 0.042 SYNE2 rs8010699 14:64056125:A:G 14 64056125 A G 14:64522843 0.999223 42670 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.0012 -0.246 0.076 Malignant neoplasm of kidney, except renal pelvis (other cancers excluded from controls) 0.0005667 -0.146 0.042 SYNE2 rs201421128 14:64065437:G:T 14 64065437 G T 14:64532155 0.90779 143 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter ILD, hospital admissions 0.000313 5.0767 1.4085 SYNE2 rs35203186 14:64070780:A:C 14 64070780 A C 14:64537498 0.984186 14876 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Mental retardation (more controls excluded) 0.000682 0.6381 0.1879 Epiphora 0.0003011 4.371 1.209 SYNE2 rs144596211 14:64080605:G:C 14 64080605 G C 14:64547323 0.971709 0.000612432 0 225 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign mammary dysplasia 7.52e-05 2.8607 0.7225 SYNE2 rs138514054 14:64081575:G:C 14 64081575 G C 14:64548293 0.983517 151 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic sinusitis 0.00148 1.5651 0.4925 SYNE2 rs10137972 14:64091016:A:C 14 64091016 A C 14:64557734 0.983236 23654 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;not specified Chron's disease NAS 0.000727 -0.358 0.1059 Diffuse brain injury 0.0004498 1.411 0.402 SYNE2 rs10137972 14:64091016:A:G 14 64091016 A G 14:64557734 0.937538 0.00401211 12 1462 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;not specified Secondary malignant neoplasm of other and unspecified sites (other cancers excluded from controls) 2.04e-05 6.8197 1.6007 Other acute viral hepatitis 0.0005162 166.217 47.87 SYNE2 rs2792205 14:64093373:T:C 14 64093373 T C 14:64560091 0.999527 21102 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Bacterial, viral and other infectious agents 0.00147 0.2873 0.0903 Flat foot [pes planus] (acquired) 0.0005701 1.072 0.311 SYNE2 rs2781377 14:64093374:G:A 14 64093374 G A 14:64560092 0.999592 21120 pLoF dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Bacterial, viral and other infectious agents 0.00112 0.2944 0.0904 Flat foot [pes planus] (acquired) 0.0005559 1.077 0.312 SYNE2 rs17101661 14:64097962:G:A 14 64097962 G A 14:64564680 0.938732 0.00217209 4 794 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not provided;not specified Cerebral cysts 3.4e-05 3.8504 0.9289 Otherand unspecified haemorrhagic conditions 0.0002227 291.915 79.071 SYNE2 rs61747118 14:64113357:T:C 14 64113357 T C 14:64580075 0.995185 8720 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified KRA_PSY_EATING 0.000483 0.4919 0.1409 Arterial embolism and thrombosis of lower extremity artery 0.0002578 7.659 2.096 SYNE2 rs36021513 14:64122107:C:A 14 64122107 C A 14:64588825 0.996189 8716 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified KRA_PSY_EATING 0.000484 0.4916 0.1409 Arterial embolism and thrombosis of lower extremity artery 0.0002587 7.65 2.094 SYNE2 rs75568433 14:64130105:C:A 14 64130105 C A 14:64596823 0.997408 1966 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant Acute otitis externa, noninfective 0.000165 3.3173 0.8806 All influenza (not pneumonia) 0.0006806 12.149 3.576 SYNE2 rs17766354 14:64137874:C:G 14 64137874 C G 14:64604592 0.998684 15446 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not provided;not specified Other benign neoplasms of skin 0.000186 0.185 0.0495 Complications of surgical and medical care, not elsewhere classified 0.0001435 0.377 0.099 SYNE2 rs12881815 14:64137877:G:A 14 64137877 G A 14:64604595 0.986068 0.0440052 788 15379 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Portal vein thrombosis 4.02e-05 1.5182 0.3697 Cardiac arrest 1.085e-05 2.85 0.648 SYNE2 rs142274277 14:64142000:A:G 14 64142000 A G 14:64608718 0.994211 1938 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy conjunctival haemorrhage 0.00025 1.6273 0.4443 Undescended testicle 0.000166 393.891 104.598 SYNE2 rs149617373 14:64142030:A:G 14 64142030 A G 14:64608748 0.994069 309 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Progressive vascular leukoencephalopathy 0.0027 6.6266 2.2086 SYNE2 rs10151658 14:64146140:C:A 14 64146140 C A 14:64612858 0.995054 0.426119 67426 89125 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter with reimbursement 1.4e-09 -0.1276 0.0211 Atrial fibrillation and flutter with reimbursement 7.564e-07 -0.095 0.019 SYNE2 rs142660236 14:64158626:T:C 14 64158626 T C 14:64625344 0.998422 3631 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified DVT of lower extremities 0.000403 -0.4497 0.1271 Gonarthrosis, primary, with knee surgery 0.001168 2.002 0.617 SYNE2 rs138797058 14:64158680:A:G 14 64158680 A G 14:64625398 0.917322 0.000598822 0 220 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Syncope and collapse 8.5e-05 1.6763 0.4266 SYNE2 rs17179194 14:64167266:G:A 14 64167266 G A 14:64633984 0.990143 1431 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant Chromosomal abnormalities, not elsewhere classified 0.00224 3.6904 1.2074 Other and unspecified diseases of blood and blood-forming organs 0.0008527 93.766 28.115 SYNE2 rs117070973 14:64186428:T:C 14 64186428 T C 14:64653146 0.993005 0.0104576 50 3792 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not provided;not specified Other diabetes, wide definition 7.46e-05 0.2174 0.0549 Vascular dementia 0.001328 8.395 2.616 SYNE2 rs36215895 14:64210033:C:T 14 64210033 C T 14:64676751 0.990029 2295 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not provided;not specified Other appendicitis 0.000291 1.0596 0.2925 Carcinoma in situ of skin of lower limb, including hip 0.000284 253.756 69.916 SYNE2 rs141741640 14:64214272:C:T 14 64214272 C T 14:64680990 0.990581 458 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Normal-pressure hydrocephalus 0.0012 5.8983 1.821 SYNE2 rs150955173 14:64216260:C:T 14 64216260 C T 14:64682978 0.99109 3202 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Benign neoplasm: Connective and other soft tissue of head, face and neck 0.000262 2.2702 0.622 Faecal incontinence 0.0005654 12.581 3.649 SYNE2 rs45453691 14:64218494:A:G 14 64218494 A G 14:64685212 0.988285 1363 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant Ptosis of eyelid 0.000977 1.3703 0.4156 Other and unspecified diseases of blood and blood-forming organs 0.0002304 278.24 75.544 SYNE2 rs34820571 14:64220587:G:A 14 64220587 G A 14:64687305 0.993782 2664 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Contracture of joint 0.000166 3.3185 0.8813 Effects of other external causes 0.004339 24.523 8.597 SYNE2 rs35700578 14:64221672:C:T 14 64221672 C T 14:64688390 0.997057 0.00819025 34 2975 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Contracture of joint 9.27e-05 3.2424 0.8295 Other diseases of arteries and capillaries 0.001613 8.305 2.633 SYNE2 rs150172232 14:64223195:G:A 14 64223195 G A 14:64689913 0.996863 4173 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emery-Dreifuss muscular dystrophy;Emery-Dreifuss muscular dystrophy 5, autosomal dominant;not specified Trigeminal neuralgia 0.000285 1.0614 0.2925 Specific development disorders of speech and language 0.0002388 19.708 5.364 SYNE2 rs147848144 14:64225338:C:T 14 64225338 C T 14:64692056 0.984974 415 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other overlap syndromes 0.000811 6.5606 1.959 SYNE2 rs201554266 14:64225392:C:T 14 64225392 C T 14:64692110 0.95952 317 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vascular syndromes of brain in cerebrovascular disorders 0.00158 5.4271 1.7174 ESR2 rs78851986 14:64260740:T:C 14 64260740 T C 14:64727458 0.984992 434 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Senile cataract 0.000163 -0.7046 0.1869 Acute lymphadenitis 0.0008646 95.75 28.743 ESR2 rs750091675 14:64268903:CATT:C 14 64268903 CATT C 14:64735621 0.908712 63 inframe_indel dominant Uncertain significance VUS no assertion criteria provided no_Criteria Other and unspecified degenerative diseases of nervous system 0.000286 38.3118 10.5619 MTHFD1 rs151019303 14:64400804:C:T 14 64400804 C T 14:64867522 0.988084 209 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other assisted single delivery 0.000264 16.6858 4.573 MTHFD1 rs1950902 14:64415662:A:G 14 64415662 A G 14:64882380 0.980175 0.783303 225508 62268 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Speech and linguistic disorders 7.33e-05 0.2354 0.0594 Speech and linguistic disorders 0.0001106 0.137 0.036 MTHFD1 rs34181110 14:64425752:G:A 14 64425752 G A 14:64892470 0.909958 249 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of urinary and pelvic organs 0.000333 12.7286 3.547 MTHFD1 rs2236225 14:64442127:G:A 14 64442127 G A 14:64908845 0.999641 91115 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Loose body in joint 0.00177 -0.2685 0.0859 Frostbite 0.001498 -0.369 0.116 PLEKHG3 rs141719183 14:64738772:A:G 14 64738772 A G 14:65205490 0.992455 541 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Reactive arthropathies 0.000564 2.1883 0.6346 PLEKHG3 rs17180132 14:64743191:G:A 14 64743191 G A 14:65209909 0.959587 1588 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Substance abuse (more controls excluded) 0.000258 0.5136 0.1405 Suppurative otitis media, unspecified 0.00144 57.505 18.047 PLEKHG3 rs72724479 14:64743551:C:T 14 64743551 C T 14:65210269 0.956953 917 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postmenopausal bleeding 0.00176 0.733 0.2343 0.000715 109.509 32.363 SPTB rs146513976 14:64769114:C:T 14 64769114 C T 14:65235832 0.948043 333 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.00151 1.2688 0.3999 SPTB rs148337824 14:64771032:G:A 14 64771032 G A 14:65237750 0.979501 380 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (undefined) (more controls excluded) 0.000743 10.6923 3.1699 SPTB rs140648376 14:64775297:T:C 14 64775297 T C 14:65242015 0.858131 45 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Temporomandibular joint disorders 0.00172 5.1071 1.6293 SPTB rs17245552 14:64782334:C:G 14 64782334 C G 14:65249052 0.994043 12695 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Elliptocytosis;Spherocytosis, Dominant;not specified Ptosis of eyelid 0.000672 0.4165 0.1225 Benign neoplasm of colon, rectum, anus and anal canal (other cancers excluded from controls) 0.001824 0.56 0.18 SPTB rs17180350 14:64782348:C:T 14 64782348 C T 14:65249066 0.99362 26444 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Elliptocytosis;Spherocytosis, Dominant;not provided;not specified Presbycusis 0.000148 0.2917 0.0769 Non-allergic asthma 0.001045 0.449 0.137 SPTB rs10132778 14:64782435:T:C 14 64782435 T C 14:65249153 0.991789 9506 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Elliptocytosis;Spherocytosis, Dominant;not provided;not specified Diseases of the respiratory system 0.0021 -0.0652 0.0212 0.0004591 1.349 0.385 SPTB rs149186357 14:64785834:G:A 14 64785834 G A 14:65252552 0.995052 1936 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Oesophagus 0.000799 3.9085 1.1657 Malignant neoplasm of cervix uteri 0.0003719 15.151 4.257 SPTB rs77806 14:64786514:T:C 14 64786514 T C 14:65253232 0.996453 73894 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other anaemias 0.00193 0.0759 0.0245 Radial styloid tenosynovitis [de Quervain] 0.0003033 -0.282 0.078 SPTB rs146326769 14:64793144:C:T 14 64793144 C T 14:65259862 0.934042 174 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of knee 0.000335 1.3348 0.3721 SPTB rs229587 14:64796582:C:T 14 64796582 C T 14:65263300 0.999793 80846 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ocular pain 0.000278 0.2146 0.059 Use of antiglaucoma preparations and miotics 0.0001349 -0.203 0.053 SPTB rs138841945 14:64800859:G:A 14 64800859 G A 14:65267577 0.990927 447 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Personal history of certain other diseases 0.000981 9.9108 3.007 SPTB rs138437526 14:64823069:T:G 14 64823069 T G 14:65289787 0.968616 239 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other diseases of appendix 0.00336 12.006 4.0939 CHURC1 rs141194013 14:64924121:A:G 14 64924121 A G 14:65390839 0.997592 3268 start_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Invasive ventilation 0.00036 1.4098 0.3951 Panniculitis, unspecified 0.001522 59.934 18.904 MAX rs148339628 14:65084266:C:T 14 65084266 C T 14:65550984 0.984618 0.00161138 2 590 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inguinal hernia, bilateral 9.35e-05 2.4212 0.6197 MAX rs201743423 14:65102315:C:A 14 65102315 C A 14:65569033 0.919562 74 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyarthropathies 0.000406 2.1966 0.6212 GPHN rs150226537 14:66508553:C:G 14 66508553 C G 14:66975271 0.995039 172 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of oesophagus in diseases classified elsewhere 0.000195 17.1087 4.5921 GPHN rs117256383 14:66681169:G:T 14 66681169 G T 14:67147887 0.988201 2012 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Molybdenum cofactor deficiency, complementation group C;not provided Inguinal hernia, bilateral 0.00025 1.145 0.3126 0.0008034 9.893 2.952 GPHN rs41285470 14:66924264:A:G 14 66924264 A G 14:67390981 0.996275 4198 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Molybdenum cofactor deficiency, complementation group A;Molybdenum cofactor deficiency, complementation group C Specific personality disorders 0.00026 0.4267 0.1168 Other and unspecified vascular occlusions 6.792e-05 10.756 2.7 PLEKHH1 rs111462449 14:67587182:C:T 14 67587182 C T 14:68053899 0.993029 975 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Conjunctiva (other cancers excluded from controls) 0.000703 3.3594 0.9914 RDH12 rs17852293 14:67727014:G:A 14 67727014 G A 14:68193731 0.998344 47936 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acne 0.0017 -0.1998 0.0637 Injury of muscle and tendon at lower leg level 0.00141 -0.252 0.079 ZFYVE26 rs34373049 14:67752483:C:T 14 67752483 C T 14:68219200 0.972502 24754 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia;not specified Unspecified fall 0.000581 0.9324 0.271 Ocular pain 0.0003616 1.145 0.321 ZFYVE26 rs151166497 14:67754144:G:A 14 67754144 G A 14:68220861 0.994705 3046 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spastic paraplegia;Spastic paraplegia 15;not specified Invasive ventilation 0.000236 1.496 0.4068 Diseases of the ear and mastoid process 1.338e-05 2.19 0.503 ZFYVE26 rs139163400 14:67762745:A:G 14 67762745 A G 14:68229462 0.986371 1251 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;not specified Lagophthalmos 0.00046 5.6388 1.6097 Radial styloid tenosynovitis [de Quervain] 0.003117 31.068 10.51 ZFYVE26 rs34952009 14:67767816:C:A 14 67767816 C A 14:68234533 0.967488 6433 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;not specified Melanocytic naevi of upper limb, including shoulder 0.000284 1.536 0.4232 Thyrotoxicosis, other and/or unspecified 4.487e-05 3.379 0.828 ZFYVE26 rs3742883 14:67767822:T:C 14 67767822 T C 14:68234539 0.99868 3417 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other acquired deformities of musculoskeletal system and connective tissue 0.000987 -1.119 0.3397 Other acquired deformities of musculoskeletal system and connective tissue 0.001756 -0.53 0.169 ZFYVE26 rs61746722 14:67769603:C:T 14 67769603 C T 14:68236320 0.980792 2145 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;not provided;not specified Pilonidal cyst 0.000246 1.1118 0.3033 Vascular dementia (subcortical) 0.001812 50.784 16.28 ZFYVE26 rs2235967 14:67782782:C:T 14 67782782 C T 14:68249499 0.999433 75012 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Occupational exposure to risk-factors 0.00137 0.2961 0.0925 IBD patients in KELA-register 0.0002006 0.129 0.035 ZFYVE26 rs140756827 14:67783430:C:T 14 67783430 C T 14:68250147 0.98108 0.00135824 2 497 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Functional dyspepsia 1.77e-05 1.7006 0.3963 ZFYVE26 rs3742884 14:67785217:G:A 14 67785217 G A 14:68251934 0.999651 3600 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia;not provided;not specified Other acquired deformities of musculoskeletal system and connective tissue 0.00352 0.94 0.3221 Other acquired deformities of musculoskeletal system and connective tissue 0.0001468 25.779 6.79 ZFYVE26 rs3742885 14:67785274:G:A 14 67785274 G A 14:68251991 0.999725 3656 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia;not specified Other acquired deformities of musculoskeletal system and connective tissue 0.00413 0.9135 0.3185 Other acquired deformities of musculoskeletal system and connective tissue 0.0002526 20.176 5.513 ZFYVE26 rs761454264 14:67785908:TGGGAGA:T 14 67785908 TGGGAGA T 14:68252625 0.854912 0.000242251 0 89 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Femoral hernia 1.27e-05 17.2824 3.9593 ZFYVE26 rs112787369 14:67786135:A:T 14 67786135 A T 14:68252852 0.996443 13108 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia;Spastic paraplegia 15;not specified Drug-induced hypoglycaemia without coma 0.000269 1.1094 0.3045 Benign neoplasm: Skin of scalp and neck (other cancers excluded from controls) 0.0003696 4.143 1.163 ZFYVE26 rs116890187 14:67789467:C:G 14 67789467 C G 14:68256184 0.983593 1166 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;not provided;not specified Other nutritional anaemias 0.000498 5.4934 1.5777 Nephrotic syndrome 0.0004851 141.23 40.48 ZFYVE26 rs117367857 14:67789528:C:T 14 67789528 C T 14:68256245 0.958305 1008 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;not provided;not specified Sequelae of infectious and parasitic diseases 0.000466 1.6498 0.4714 Other specified/unspecified dorsopathies 0.0009745 81.147 24.607 ZFYVE26 rs17192170 14:67790635:T:A 14 67790635 T A 14:68257352 0.988711 46147 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nummular dermatitis 3e-04 -0.25 0.0691 Problems related to medical facilities and other health care 0.0008052 0.448 0.134 ZFYVE26 rs77129887 14:67798329:T:C 14 67798329 T C 14:68265046 0.990066 1374 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;not specified Disorders of psychological developtment 0.000714 1.1593 0.3426 Amyloidosis, other/unspecified 0.0004633 161.786 46.21 ZFYVE26 rs117228915 14:67798418:G:A 14 67798418 G A 14:68265135 0.994257 2213 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;not provided;not specified Pilonidal cyst 0.000188 1.1071 0.2965 Follicular lymphoma (other cancers excluded from controls) 0.001223 23.767 7.35 ZFYVE26 rs35512910 14:67805304:C:A 14 67805304 C A 14:68272021 0.815302 121 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Panniculitis, unspecified 0.000106 37.2391 9.6058 RAD51B rs28910275 14:67885955:A:G 14 67885955 A G 14:68352672 0.994089 17038 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inguinal hernia 0.000155 -0.1224 0.0323 5.129e-05 4.66 1.151 RAD51B rs61758785 14:68594511:G:A 14 68594511 G A 14:69061228 0.983065 1718 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.000135 0.6954 0.1822 0.0001154 2.978 0.772 RAD51B rs28908468 14:68594542:C:G 14 68594542 C G 14:69061259 0.985128 20459 missense_variant unknown drug response drug response no assertion criteria provided no_Criteria PARP Inhibitor response Other neurotic disorders 0.000801 -0.36 0.1074 Vascular syndromes of brain in cerebrovascular disorders 0.000736 1.415 0.419 ACTN1 rs752352598 14:68875043:G:A 14 68875043 G A 14:69341760 0.917125 151 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Procedures for purposes other than remedying health state 0.000177 11.9668 3.191 SLC10A1 rs111885789 14:69797034:G:A 14 69797034 G A 14:70263751 0.990311 507 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Circumscribed brain atrophy 0.000321 8.6366 2.4007 SMOC1 rs139737624 14:69952141:C:G 14 69952141 C G 14:70418858 0.999296 0.00163043 6 593 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Reactive arthropathies, FINNGEN 3.77e-05 2.9823 0.7237 Varicose veins of other sites 0.005032 21.069 7.511 SMOC1 rs143606483 14:69952268:C:T 14 69952268 C T 14:70418985 0.987711 480 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Respiratory tuberculosis 0.000206 3.6535 0.9844 Unspecified diabetes with multiple/unspecified complications 0.001271 62.039 19.252 SLC8A3 rs34816272 14:70167483:T:C 14 70167483 T C 14:70634200 0.995517 2361 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of nerves and spinal cord at neck level 0.000366 2.8732 0.8063 Hypertension 0.0002147 1.633 0.441 PCNX1 rs144799758 14:70977749:C:G 14 70977749 C G 14:71444466 0.98598 821 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of forces of labour 0.000365 1.5369 0.4312 PCNX1 rs34655198 14:70988600:G:A 14 70988600 G A 14:71455317 0.994913 529 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary malignant neoplasm of other and unspecified sites (other cancers excluded from controls) 0.000146 10.6766 2.8115 SIPA1L1 rs78621209 14:71587991:G:A 14 71587991 G A 14:72054708 0.986193 3908 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disorders of skin and subcutaneous tissue 0.000842 0.8746 0.2619 Injuries to the head 0.0001193 1.406 0.365 SIPA1L1 rs12884638 14:71588038:C:A 14 71588038 C A 14:72054755 0.994239 4148 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple myeloma and malignant plasma cell neoplasms 0.000291 1.2815 0.3537 Later onset COPD 3.113e-05 6.717 1.613 SIPA1L1 rs148958695 14:71588042:C:A 14 71588042 C A 14:72054759 0.996061 1271 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of the respiratory system 0.000754 3.9553 1.174 Other and unspecified nerve root and plexus disorders, also in other diseases 0.0008891 9.721 2.925 DCAF4 rs117449182 14:72954451:A:G 14 72954451 A G 14:73421159 0.978708 2480 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Decubitus ulcer and pressure area 0.000249 1.6603 0.4532 0.0003966 140.164 39.568 PSEN1 rs17125721 14:73206470:A:G 14 73206470 A G 14:73673178 0.998836 11815 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acne inversa, familial, 3;Alzheimer disease, type 3;Alzheimer's disease;Dilated Cardiomyopathy, Dominant;Early-Onset Familial Alzheimer Disease;Frontotemporal dementia;Pick's disease;not provided;not specified Arthrosis 0.000587 -0.1028 0.0299 Polycystic ovarian syndrome 0.003075 2.171 0.733 PAPLN rs61745771 14:73266577:G:A 14 73266577 G A 14:73733285 0.962672 3925 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other symptoms and signs involving general sensations and perceptions 0.000806 1.2953 0.3866 Contact with and exposure to communicable diseases 0.001386 8.817 2.757 COQ6 rs45496292 14:73955842:A:G 14 73955842 A G 14:74422545 0.992788 1622 stop_lost recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified vascular occlusions 0.000838 1.2428 0.3721 Hepatomegaly and splenomegaly, not elsewhere classified 0.0003105 219.38 60.831 COQ6 rs2074930 14:73961297:A:T 14 73961297 A T 14:74428000 0.999901 6800 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Myositis 0.000644 1.1948 0.3501 Examination and encounter for administrative purposes 0.0004903 15.047 4.316 COQ6 rs8500 14:73961742:G:A 14 73961742 G A 14:74428445 0.99996 91522 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Pituitary gland, craniopharyngeal duct 0.000212 0.23 0.0621 Other arrhytmias 0.000588 0.042 0.012 ALDH6A1 rs139579994 14:74068957:G:A 14 74068957 G A 14:74535660 0.987145 0.00263754 2 967 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Rectum/anal canal icd-9 (other cancers excluded from controls) 7.44e-05 7.5281 1.9002 VSX2 rs75395981 14:74260704:G:A 14 74260704 G A 14:74727407 0.996047 2991 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microphthalmia, isolated 2;Microphthalmia, isolated 6;VSX2-related Microphthalmia;not specified Type 2 diabetes, wide definition 0.000119 -0.31 0.0805 Other and unspecified nail disorders 0.00117 75.228 23.175 ABCD4 rs143288344 14:74286717:C:T 14 74286717 C T 14:74753420 0.990838 0.017325 120 6245 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE;not provided;not specified Postydysenteric arthropathy 9.87e-05 2.4065 0.618 Smoking 0.0001813 4.677 1.249 ABCD4 rs45568335 14:74290035:G:A 14 74290035 G A 14:74756738 0.992831 419 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.000532 12.1007 3.4929 ABCD4 rs3742801 14:74292303:C:T 14 74292303 C T 14:74759006 0.999928 79452 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system 0.00128 -0.38 0.118 Type 1 diabetes without complications 6.297e-05 0.118 0.029 ABCD4 rs35073715 14:74292356:G:C 14 74292356 G C 14:74759059 0.973478 5258 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE;not specified Ulcerative rectosigmoiditis 0.000529 0.7105 0.205 0.000325 6.27 1.744 ABCD4 rs4148077 14:74292774:C:T 14 74292774 C T 14:74759477 0.999523 79450 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes with coma 0.00133 0.1189 0.037 Type 1 diabetes without complications 6.238e-05 0.118 0.029 ABCD4 rs141868117 14:74293217:G:A 14 74293217 G A 14:74759920 0.974232 518 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute nephritic syndrome 0.000384 5.8456 1.6461 ABCD4 rs188205145 14:74296357:T:C 14 74296357 T C 14:74763060 0.983861 0.0051907 12 1895 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postydysenteric arthropathy 7.5e-05 5.2307 1.321 Male infertility 8.662e-05 28.371 7.228 ABCD4 rs2301345 14:74299649:A:G 14 74299649 A G 14:74766352 0.999042 79457 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes with coma 0.00145 0.118 0.037 Type 1 diabetes without complications 7.036e-05 0.117 0.029 VRTN rs45500395 14:74358253:C:A 14 74358253 C A 14:74824956 0.902439 0.000626041 8 222 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presence of other devices 5.41e-05 3.3988 0.8419 Persons encountering health services in other circumstances 0.0001434 1.338 0.352 NPC2 rs140130028 14:74480701:C:T 14 74480701 C T 14:74947404 0.981205 1154 pLoF recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Niemann-Pick disease type C2;not provided;not specified Tinnitus 0.00153 -0.7986 0.2519 Vertigo of central origin 0.000373 200.789 56.425 LTBP2 rs139932140 14:74503338:A:G 14 74503338 A G 14:74970041 0.993655 6795 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chron's disease NAS 0.00115 -0.6468 0.1989 Unspecified chronic bronchitis 0.0001436 9.323 2.452 LTBP2 rs117800773 14:74503992:C:T 14 74503992 C T 14:74970695 0.98111 488 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 0.000193 2.4278 0.6513 LTBP2 rs45468895 14:74508645:G:A 14 74508645 G A 14:74975348 0.953618 138 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast and lactation associated with childbirth 0.000313 20.7833 5.7661 Chronic sinusitis 0 7.57 0 LTBP2 rs61505039 14:74509749:C:T 14 74509749 C T 14:74976452 0.99447 6669 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary congenital glaucoma;Weill-Marchesani syndrome Chronic ulcer of skin, not elsewhere classified 0.00113 0.7456 0.2291 Undefined dementia 0.0001225 4.866 1.267 LTBP2 rs149991486 14:74510195:G:A 14 74510195 G A 14:74976898 0.975236 378 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis 0.000616 0.7249 0.2117 LTBP2 rs201591982 14:74522792:G:T 14 74522792 G T 14:74989495 0.998714 0.00163043 2 597 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Trochanteric bursitis 1.22e-05 2.6762 0.612 LTBP2 rs137854857 14:74551197:C:A 14 74551197 C A 14:75017900 0.983465 2196 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectopia lentis, isolated, autosomal dominant Melanocytic naevi of scalp and neck 0.00109 2.0718 0.6344 Chronic lower respiratory diseases 0.0001668 2.598 0.69 LTBP2 rs2304707 14:74555568:G:T 14 74555568 G T 14:75022271 0.993067 19441 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary congenital glaucoma;Weill-Marchesani syndrome;not specified Occlusion and stenosis of arteries, not leading to stroke 0.00123 0.8433 0.261 Chronic hepatitis, not elsewhere classified 2.247e-05 2.651 0.625 LTBP2 rs79886273 14:74611725:C:G 14 74611725 C G 14:75078428 0.989787 303 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Inguinal hernia 0.000948 0.814 0.2463 PROX2 rs78451431 14:74862615:T:C 14 74862615 T C 14:75329318 0.970417 5376 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes without complications 0.000752 0.3499 0.1038 Chlocystitis 0.0001306 4.465 1.167 PROX2 rs117853159 14:74863603:A:G 14 74863603 A G 14:75330306 0.954242 644 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Femoral hernia, unilateral 0.00114 3.8964 1.1976 EIF2B2 rs141355163 14:75003066:G:C 14 75003066 G C 14:75469769 0.977799 6819 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of intestine 0.00168 0.568 0.1808 Other and unspcified rosacea 0.001664 4.052 1.288 EIF2B2 rs150617429 14:75003646:C:T 14 75003646 C T 14:75470349 0.910123 29 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Female infertility, tubal origin 0.000528 26.5285 7.6533 MLH3 rs151133595 14:75042391:G:A 14 75042391 G A 14:75509094 0.901564 50 pLoF unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition, subgroup 1 0.000168 4.289 1.1399 MLH3 rs28757008 14:75042443:G:T 14 75042443 G T 14:75509146 0.99647 3778 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter MLH3-Related Lynch Syndrome Nephrotic syndrome 0.000208 1.5231 0.4106 Chronic rhinitsi, nasopharyngitis and pharyngitis 0.0006685 3.262 0.959 MLH3 rs17782839 14:75046760:A:G 14 75046760 A G 14:75513463 0.984484 2304 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lynch syndrome;MLH3-Related Lynch Syndrome Haemolytic anaemias 0.000167 2.4132 0.6411 Perichondritis of external ear 0.0004505 129.201 36.824 MLH3 rs17102999 14:75046831:G:A 14 75046831 G A 14:75513534 0.995637 4381 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lynch syndrome;MLH3-Related Lynch Syndrome;not specified Astigmatism 0.00066 1.0708 0.3144 Oedema, not elsewhere classified 0.0001204 3.381 0.879 MLH3 rs28756992 14:75047123:T:C 14 75047123 T C 14:75513826 0.987527 722 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lynch syndrome;MLH3-Related Lynch Syndrome Care involving use of rehabilitation procedures 0.00139 0.554 0.1733 Secondary right heart disease 0.0002954 166.522 46.01 MLH3 rs175080 14:75047125:G:A 14 75047125 G A 14:75513828 0.999696 91376 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adult-onset Still disease 0.000182 0.1078 0.0288 0.0003894 0.023 0.006 MLH3 rs61752722 14:75047231:T:C 14 75047231 T C 14:75513934 0.993244 0.00106155 2 388 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications predominantly related to the puerperium 1.63e-05 2.7757 0.6439 MLH3 rs28756990 14:75047435:C:A 14 75047435 C A 14:75514138 0.98751 721 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometrial carcinoma;Hereditary nonpolyposis colorectal cancer type 7;Lynch syndrome;MLH3-Related Lynch Syndrome Other disorders of fluid, electrolyte and acid-base balance 0.00156 0.9737 0.3079 Secondary right heart disease 0.0002954 166.522 46.01 MLH3 rs28756986 14:75047786:C:G 14 75047786 C G 14:75514489 0.991362 3516 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary nonpolyposis colorectal cancer type 7;MLH3-Related Lynch Syndrome Headache 0.00121 -0.2509 0.0775 Primary coxarthrosis, bilateral 0.00135 3.547 1.107 MLH3 rs28756982 14:75048398:C:T 14 75048398 C T 14:75515101 0.993709 11197 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lynch syndrome;MLH3-Related Lynch Syndrome Varicose veins 0.000782 -0.1394 0.0415 Other diseases of upper respiratory tract 0.0005879 -0.316 0.092 MLH3 rs61754769 14:75048422:T:C 14 75048422 T C 14:75515125 0.988898 937 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter MLH3-Related Lynch Syndrome Diabetic retinopathy 0.000578 0.4751 0.138 Guillain-Barre syndrome 0.0007073 115.307 34.047 MLH3 rs775001669 14:75048767:G:A 14 75048767 G A 14:75515470 0.955514 334 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Infections of the skin and subcutaneous tissue 0.000227 1.0745 0.2914 MLH3 rs28756981 14:75048965:T:G 14 75048965 T G 14:75515668 0.993408 8874 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lynch syndrome;MLH3-Related Lynch Syndrome;not specified Maternal care for other known or suspected fetal problems 0.000558 0.2994 0.0868 Oesophagitis 0.0002626 4.526 1.24 NEK9 rs143597394 14:75124193:C:T 14 75124193 C T 14:75590896 0.992538 746 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral infections characterized by skin and mucous membrane lesions 0.000193 0.9961 0.2672 FOS rs150427794 14:75280102:A:G 14 75280102 A G 14:75746805 0.982645 331 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructive hydrocephalus 0.000701 11.6248 3.4299 Abnormal findings on diagnostic imaging of breast 0.0001867 361.613 96.782 FOS rs138334429 14:75280809:G:C 14 75280809 G C 14:75747512 0.949553 0.0177877 134 6401 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes, definitions combined 8.41e-06 0.1988 0.0446 0.000174 0.931 0.248 FLVCR2 rs2287015 14:75579019:T:C 14 75579019 T C 14:76045362 0.99829 65872 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal epilepsy 0.00266 0.2309 0.0768 Spondylosis 0.002382 -0.086 0.028 FLVCR2 rs756068385 14:75579044:CCCCAGCGTCTCGGTCCAT:C 14 75579044 CCCCAGCGTCTCGGTCCAT C 14:76045387 0.812131 188 inframe_indel recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of skin of scalp and neck 0.00155 15.9811 5.0495 FLVCR2 rs45479302 14:75624635:C:T 14 75624635 C T 14:76090978 0.926385 1086 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple delivery 0.000139 2.4716 0.6488 Guillain-Barre syndrome 0.0003999 167.899 47.427 TTLL5 rs2303345 14:75690266:C:T 14 75690266 C T 14:76156609 0.997824 0.736918 199554 71181 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Long bones of lower limb (other cancers excluded from controls) 4.47e-05 -0.3615 0.0886 Elevated blood glucose level 0.0004069 -0.138 0.039 TTLL5 rs17849666 14:75707637:G:A 14 75707637 G A 14:76173980 0.997334 0.00207955 0 764 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Viral infections characterized by skin and mucous membrane lesions 2.42e-05 1.126 0.2667 TTLL5 rs146036604 14:75783181:A:C 14 75783181 A C 14:76249524 0.993494 0.00263482 6 962 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Acute laryngitis and tracheitis 3.74e-06 1.8161 0.3926 Diseases of the musculoskeletal system and connective tissue 0 1.539 0 TTLL5 rs142169707 14:75783435:G:A 14 75783435 G A 14:76249778 0.995137 0.00924635 36 3361 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital malformations of the nervous system 4.23e-05 2.7063 0.661 Melanocytic naevi of trunk (other cancers excluded from controls) 4.037e-05 13.01 3.169 TTLL5 rs1133834 14:75902201:T:C 14 75902201 T C 14:76368544 0.967664 44463 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Metabolic disorders 0.00124 0.056 0.0173 Disorders of mineral metabolism 3.237e-05 0.654 0.157 TGFB3 rs142047577 14:75980601:G:A 14 75980601 G A 14:76446944 0.97674 406 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified abdominal hernia 0.000782 4.9005 1.4588 TGFB3 rs201059075 14:75980701:C:T 14 75980701 C T 14:76447044 0.995829 1221 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Loeys-Dietz syndrome 4 Contracture of joint 0.00147 4.1655 1.3095 Disorders of eyelid in diseases classified elsewhere 0.000806 98.19 29.304 IFT43 rs17783366 14:76076661:G:A 14 76076661 G A 14:76543004 0.999395 0.319638 37926 79505 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cyst of kidney 6.76e-05 -0.2587 0.0649 Pericarditis 0.0004423 0.302 0.086 ESRRB rs61742642 14:76498312:C:T 14 76498312 C T 14:76964655 0.98552 19652 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Benign neoplasm: Connective and other soft tissue of head, face and neck (other cancers excluded from controls) 0.000288 0.8099 0.2234 Dizziness and giddiness 0.0004719 -0.317 0.091 ESRRB rs201714970 14:76498322:C:T 14 76498322 C T 14:76964665 0.937141 266 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the urinary system 0.00303 -0.7802 0.2631 ESRRB rs146351534 14:76498393:G:A 14 76498393 G A 14:76964736 0.99535 5297 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Chronic rhinitsi, nasopharyngitis and pharyngitis 0.000493 0.3304 0.0948 Other and unspecified erythematous conditions 0.0005401 14.441 4.174 ESRRB rs188462546 14:76499932:T:C 14 76499932 T C 14:76966275 0.928507 459 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not provided;not specified Torticollis 0.000804 6.8725 2.0507 0 1.814 0 POMT2 rs11625197 14:77279769:T:C 14 77279769 T C 14:77746112 0.99005 87534 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bursitis of shoulder 0.000932 -0.3093 0.0934 Malignant neoplasm of brain (other cancers excluded from controls) 0.0001761 0.279 0.074 POMT2 rs61990292 14:77279774:G:A 14 77279774 G A 14:77746117 0.984976 15597 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Anxious personality disorder 0.000386 0.9078 0.2558 Foreign body on external eye 0.0004474 1.156 0.329 POMT2 rs752214239 14:77279825:G:A 14 77279825 G A 14:77746168 0.908921 0.000762137 0 280 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Otosclerosis 1.35e-05 4.253 0.9773 POMT2 rs200762716 14:77284974:C:T 14 77284974 C T 14:77751317 0.991653 251 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Special screening examination for infectious and parasitic diseases 0.00144 1.3981 0.4387 POMT2 rs200204831 14:77299534:G:A 14 77299534 G A 14:77765877 0.800251 186 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hidradenitis suppurativa 0.00103 9.6244 2.9335 POMT2 rs151103906 14:77320450:C:G 14 77320450 C G 14:77786793 0.92925 653 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2;Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;Limb-girdle muscular dystrophy-dystroglycanopathy, type C2;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1;not provided Mixed hyperlipidaemia 0.000468 3.7494 1.0717 Dislocation, sprain and strain of joints and ligaments of head 0.001043 95.336 29.079 POMT2 rs780976004 14:77320549:G:A 14 77320549 G A 14:77786892 0.931912 542 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypo-osmolality and hyponatraemia 0.000554 1.9654 0.5691 VIPAS39 rs145453157 14:77428376:G:T 14 77428376 G T 14:77894719 0.971444 126 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Oesophagus (other cancers excluded from controls) 6e-04 27.7073 8.0739 AHSA1 rs61755658 14:77462685:T:C 14 77462685 T C 14:77929028 0.919059 778 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of Bartholin gland 0.000262 4.6322 1.269 SPTLC2 rs138652708 14:77512309:G:A 14 77512309 G A 14:77978652 0.988651 9949 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary sensory and autonomic neuropathy type IC;not provided Bicipital tendinitis 0.000233 0.7037 0.1912 Other and unspecified injuries of abdomen, lower back and pelvis 0.001281 9.628 2.99 SPTLC2 rs2072672 14:77521615:C:A 14 77521615 C A 14:77987958 0.988315 66540 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other infective otitis externa 0.0017 -0.2035 0.0649 Benign neoplasm: Rectum (other cancers excluded from controls) 0.001233 0.084 0.026 NRXN3 rs11626446 14:78243701:G:A 14 78243701 G A 14:78710044 0.996478 83285 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gestational [pregnancy-induced] oedema and proteinuria without hypertension 0.000692 -0.2762 0.0814 Benign neoplasm of male genital organs (other cancers excluded from controls) 0.0004862 0.377 0.108 CEP128 rs45488095 14:80792992:T:C 14 80792992 T C 14:81259336 0.991579 2533 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Motor neuron disease 0.000271 2.974 0.8167 Cushing syndrome 0.001132 76.55 23.515 TSHR rs61747482 14:80955786:G:C 14 80955786 G C 14:81422130 0.9629 2223 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital hypothyroidism;Hyperthyroidism, nonautoimmune;THYROTROPIN RECEPTOR POLYMORPHISM;not specified Congenital malformations of the nervous system 0.000282 3.1179 0.8586 Inguinal of femoral hernia, unilateral 0.0003548 193.264 54.112 TSHR rs2234919 14:80955834:C:A 14 80955834 C A 14:81422178 0.995823 18289 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital hypothyroidism;not specified Use of disulfiram, acamprosate or naltrexone 0.00025 0.3387 0.0925 Other crystal arthropathies 0.00201 3.806 1.232 TSHR rs3783941 14:81108661:C:A 14 81108661 C A 14:81575005 0.999105 81911 missense_variant both not provided not_provided no assertion provided none Glucoma-related operations 0.00149 0.249 0.0784 0.001056 0.14 0.043 TSHR rs1991517 14:81144239:G:C 14 81144239 G C 14:81610583 0.986183 46550 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormal uterine and caginal bleeding 0.000308 0.1146 0.0318 Other abnormal uterine and caginal bleeding 5.427e-05 0.072 0.018 FLRT2 rs137990800 14:85622688:A:G 14 85622688 A G 14:86089032 0.994437 1800 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicobrachial syndrome 0.000105 0.822 0.2119 Systemic atrophies primarly affecting the central nervous system 0.00176 51.16 16.356 GALC rs398607 14:87941544:A:G 14 87941544 A G 14:88407888 0.999954 91427 missense_variant recessive Benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oher diseases of blood and blood-forming organs 0.00067 0.2107 0.0619 Oher diseases of blood and blood-forming organs 3.093e-05 0.222 0.053 GALC rs74887188 14:87965625:T:C 14 87965625 T C 14:88431969 0.899034 154 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasms 0.00046 0.7589 0.2166 GALC rs34362748 14:87976368:C:T 14 87976368 C T 14:88442712 0.999903 0.166067 10300 50711 missense_variant recessive Benign/Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of genital organs 9.55e-06 0.2641 0.0597 MS-disease / Multiple Sclerosis 0.001746 0.341 0.109 GALC rs1805078 14:87984426:G:A 14 87984426 G A 14:88450770 0.999602 23848 missense_variant recessive Benign/Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Galactosylceramide beta-galactosidase deficiency;not specified Atopic dermatitis 0.000168 0.1519 0.0404 Open wound of head 0.0005557 0.326 0.095 GALC rs147313927 14:87986597:T:C 14 87986597 T C 14:88452941 0.99549 1133 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Galactosylceramide beta-galactosidase deficiency;not specified Gestational diabetes (for exclusion) 0.000249 0.8022 0.219 Vascular dementia 0.0004629 12.482 3.565 GALC rs111887056 14:87993104:C:G 14 87993104 C G 14:88459448 0.999364 0.163729 10018 50134 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of genital organs 3.32e-05 0.2487 0.0599 MS-disease / Multiple Sclerosis 0.00105 0.365 0.111 GALC rs373587692 14:87993124:G:C 14 87993124 G C 14:88459468 0.915565 0.000492667 0 181 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injury of other and unspecified intrathoracic organs 1.74e-05 8.5022 1.979 SPATA7 rs4904448 14:88385822:G:A 14 88385822 G A 14:88852166 0.995552 91333 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute epiglottitis 5e-04 0.3981 0.1144 Additional codes for the location of defect, injury or illness 0.001091 -0.191 0.058 SPATA7 rs202230167 14:88416836:T:A 14 88416836 T A 14:88883180 0.936606 230 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Middle ear, nasal cavity and accessory sinuses (other cancers excluded from controls) 0.000394 8.0903 2.2828 SPATA7 rs375371982 14:88431176:A:G 14 88431176 A G 14:88897520 0.944767 83 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at forearm level 0.000895 22.7246 6.8416 ZC3H14 rs45518831 14:88596758:C:T 14 88596758 C T 14:89063102 0.998284 5868 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other viral diseases 0.00126 0.343 0.1063 Other disorders of patella 0.0005425 2.584 0.747 EML5 rs139652502 14:88740517:G:A 14 88740517 G A 14:89206861 0.988285 0.0145677 68 5284 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chondromalacia 2.99e-05 1.4651 0.351 Benign neoplasm: Middle ear, nasal cavity and accessory sinuses (other cancers excluded from controls) 0.0006582 12.793 3.756 TTC8 rs150880478 14:88840883:A:G 14 88840883 A G 14:89307227 0.948565 346 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified immunodeficiencies with predominantly antibody defects 0.00011 11.4787 2.9673 TTC8 rs142938748 14:88872358:A:G 14 88872358 A G 14:89338702 0.995673 0.00998944 22 3648 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Malaise and fatigue 3.51e-08 0.5833 0.1058 Amenorrhoea 0.0003297 12.888 3.589 TTC8 rs140698625 14:88872432:C:T 14 88872432 C T 14:89338776 0.961996 529 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Degenerative macular diseases 0.000333 2.0154 0.5617 TTC8 rs199649536 14:88877325:C:T 14 88877325 C T 14:89343669 0.867351 111 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bicipital tendinitis 0.0012 9.1057 2.811 TDP1 rs28365054 14:89963514:G:A 14 89963514 G A 14:90429858 0.99526 4940 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autosomal recessive cerebellar ataxia Dementia in other diseases classified elsewhere 0.00245 0.8787 0.29 Autoimmune diseases related-to ILD 0.0002867 1.415 0.39 TDP1 rs201355368 14:90033208:A:G 14 90033208 A G 14:90499552 0.98434 0.0027573 2 1011 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behabioural disorders of puerperum, not classified elsewhere (more controls excluded) 7.71e-05 8.5374 2.1595 TTC7B rs140726085 14:90578192:G:T 14 90578192 G T 14:91044536 0.934234 732 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility, associated with anovulation 0.00189 2.1248 0.6839 GPR68 rs61745752 14:91234045:C:A 14 91234045 C A 14:91700389 0.995225 1198 LC recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postzoster neuralgia 0.000666 5.1141 1.5028 GPR68 rs61745750 14:91234061:T:A 14 91234061 T A 14:91700405 0.995082 1192 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postzoster neuralgia 0.000673 5.1193 1.5054 Disorders of eyelid in diseases classified elsewhere 0.00111 76.238 23.379 CCDC88C rs201940261 14:91272686:G:A 14 91272686 G A 14:91739030 0.910357 129 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lichen simplex chronicus and prurigo 0.000138 9.1158 2.392 CCDC88C rs45560241 14:91272732:G:C 14 91272732 G C 14:91739076 0.96327 0.0210023 168 7548 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Polymyalgia rheumatica 9.05e-05 0.6384 0.1631 Other and unspecified tonssillitis 0.0002205 1.509 0.408 CCDC88C rs941920 14:91272737:A:G 14 91272737 A G 14:91739081 0.994755 0.941985 325984 20090 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Premature rupture of membranes 6.35e-06 -0.3135 0.0694 Premature rupture of membranes 2.561e-06 -0.171 0.036 CCDC88C rs45542736 14:91272764:C:G 14 91272764 C G 14:91739108 0.992307 16350 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other (seronegative) rheumatoid arthritis, wide 0.00091 -0.2435 0.0734 Burn and corrosion of wrist and hand 0.0001564 2.874 0.76 CCDC88C rs142295786 14:91273461:C:T 14 91273461 C T 14:91739805 0.892308 147 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lichen simplex chronicus 0.000766 10.3433 3.0739 CCDC88C rs77154172 14:91273625:A:G 14 91273625 A G 14:91739969 0.997311 2300 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Open wound of abdomen, lower back and pelvis 0.00157 1.7865 0.565 1.558e-05 2.596 0.601 CCDC88C rs202217944 14:91289281:G:A 14 91289281 G A 14:91755625 0.95082 3685 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Other secondary gonarthrosis 5e-04 1.212 0.3482 0.0004331 -0.827 0.235 CCDC88C rs142539336 14:91297376:G:A 14 91297376 G A 14:91763720 0.963291 0.00263209 0 967 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperplasia of prostate 1.38e-05 0.7851 0.1806 CCDC88C rs1970911 14:91307150:G:A 14 91307150 G A 14:91773494 0.999205 51896 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arrhytmias 0.00032 -0.0747 0.0208 Acute appendicitis, no complications 0.001328 -0.101 0.032 CCDC88C rs78468999 14:91313938:C:G 14 91313938 C G 14:91780282 0.97767 1519 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and specified injuries of hip and thigh 0.00161 3.2683 1.0365 FBLN5 rs2498847 14:91877956:A:G 14 91877956 A G 14:92344300 0.99343 77445 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other follicular disorders 0.000367 -0.2225 0.0624 Erosion and ectropion of cervix uteri 0.0001479 -0.342 0.09 FBLN5 rs61734479 14:91936950:C:T 14 91936950 C T 14:92403294 0.95011 0.000773025 2 282 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of peritoneum 5.09e-05 4.0716 1.005 TRIP11 rs137938779 14:91969836:C:T 14 91969836 C T 14:92436180 0.962527 151 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of stomach 0.00119 5.8037 1.7906 TRIP11 rs148261539 14:91972807:G:T 14 91972807 G T 14:92439151 0.920876 256 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm of mouth and pharynx 0.00114 2.9628 0.9104 TRIP11 rs1051340 14:91974722:C:T 14 91974722 C T 14:92441066 0.999712 80331 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acne 0.000649 -0.1676 0.0491 Other diseases of upper respiratory tract 0.00126 0.032 0.01 TRIP11 rs145868557 14:91976152:C:A 14 91976152 C A 14:92442496 0.986588 0.00556088 20 2023 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Primary gonarthrosis, bilateral 4.99e-06 0.6215 0.1361 Short stature, not elsewhere classified 0.0001965 315.262 84.667 TRIP11 rs137974620 14:91993832:C:G 14 91993832 C G 14:92460176 0.992688 1668 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Ohter specific/unspecified arthritis 0.00138 0.6114 0.1912 0.0001052 2.695 0.695 TRIP11 rs80200454 14:91993883:C:T 14 91993883 C T 14:92460227 0.99916 5170 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Achondrogenesis;not specified Unspesified kidney failure 0.000528 0.8356 0.2411 Lesion of plantar nerve 0.0003483 6.859 1.918 TRIP11 rs35007347 14:91999405:C:T 14 91999405 C T 14:92465749 0.968766 4784 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Achondrogenesis;not specified Other strabismus 0.000697 -0.4029 0.1188 Meningitis 0.0001411 8.884 2.334 TRIP11 rs745372938 14:92004014:A:T 14 92004014 A T 14:92470358 0.927216 317 pLoF recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Problems related to social environment 0.000215 6.6623 1.8001 TRIP11 rs41301481 14:92004372:T:G 14 92004372 T G 14:92470716 0.98502 215 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Non-rheumatic valve diseases 0.000208 1.3318 0.3591 TRIP11 rs200045450 14:92005112:G:T 14 92005112 G T 14:92471456 0.931576 290 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Nystagmus and other irregular eye movements 0.00033 14.4733 4.0313 TRIP11 rs143524436 14:92005842:C:T 14 92005842 C T 14:92472186 0.998471 11447 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Achondrogenesis;not provided;not specified Diabetes, insuline treatment (Kela reimbursement) 0.00199 -0.099 0.032 Atypical mycobacterium lung infection 6.346e-05 12.457 3.115 TRIP11 rs59635749 14:92006072:G:C 14 92006072 G C 14:92472416 0.999157 5171 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Achondrogenesis;not specified Unspesified kidney failure 0.000536 0.8339 0.2409 Lesion of plantar nerve 0.000409 6.504 1.84 TRIP11 rs201567600 14:92025399:A:G 14 92025399 A G 14:92491743 0.922071 172 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter ILD differential diagnosis 0.00122 -0.5272 0.163 TRIP11 rs17127898 14:92039571:T:A 14 92039571 T A 14:92505915 0.995093 33977 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disturbances of skin sensation 0.000162 0.1668 0.0442 Concussion 1.137e-05 0.245 0.056 ATXN3 rs1048755 14:92082441:C:T 14 92082441 C T 14:92548785 0.999515 63330 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Systemic atrophies primarly affecting the central nervous system 0.000923 -0.2873 0.0867 Type 2 diabetes with coma 1.97e-05 0.244 0.057 ATXN3 rs16999141 14:92083242:G:A 14 92083242 G A 14:92549586 0.998024 89690 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Disturbances of skin sensation 0.000133 -0.1035 0.0271 Type 2 diabetes with coma 0.0001605 0.119 0.032 SLC24A4 rs142889151 14:92486772:C:T 14 92486772 C T 14:92953116 0.994941 3953 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of forces of labour 0.00179 0.5816 0.1863 Corns and callosities 0.001316 9.275 2.887 SLC24A4 rs4900130 14:92493596:G:A 14 92493596 G A 14:92959940 0.987167 0.0312095 406 11060 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perichondritis of external ear 2.85e-05 1.4859 0.355 Femoral hernia 0.0001506 3.614 0.954 LGMN rs145149674 14:92704688:T:C 14 92704688 T C 14:93171033 0.979349 527 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Circumscribed brain atrophy 0.000717 7.1476 2.1128 Circumscribed brain atrophy 0.0007107 98.149 28.992 GOLGA5 rs142273431 14:92811554:G:A 14 92811554 G A 14:93277899 0.914585 155 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aphakia 0.000118 19.1695 4.9789 SERPINA10 rs61754487 14:94288306:C:T 14 94288306 C T 14:94754643 0.996019 6454 pLoF unknown Uncertain significance VUS no assertion criteria provided no_Criteria Venous thrombosis, susceptibility to Tongue abnormality 0.000176 0.8601 0.2293 Other and unspecidied mood [affective] disorders 0.0003118 7.143 1.981 SERPINA6 rs113418909 14:94314305:A:T 14 94314305 A T 14:94780642 0.994762 904 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Corticosteroid-binding globulin deficiency;not provided Tuberculosis 0.000343 1.99 0.5558 Other diseases caused by chlamydiae 0.0004647 139.494 39.852 SERPINA1 rs1303 14:94378506:T:G 14 94378506 T G 14:94844843 0.997267 0.243672 21580 67942 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neuralgia and neuritis, unspecified 4.9e-05 -0.3028 0.0746 0.001678 -0.137 0.044 SERPINA1 rs121912712 14:94378547:C:T 14 94378547 C T 14:94844884 0.959324 651 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Alpha-1-antitrypsin deficiency;PI CHRISTCHURCH;not provided Presence of cardiac and vascular implants and grafts 0.00108 0.7574 0.2318 Neuralgia and neuritis, unspecified 0.000711 91.685 27.083 SERPINA1 rs28929474 14:94378610:C:T 14 94378610 C T 14:94844947 0.998563 0.0198482 154 7138 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alpha-1-antitrypsin deficiency;Alpha-1-antitrypsin deficiency;Alpha-1-antitrypsin deficiency;Chronic obstructive pulmonary disease;FRAXE;Inborn genetic diseases;PI Z;PI Z(AUGSBURG);PI Z(TUN);not provided Other metabolic disorders 5.89e-21 1.6323 0.1738 Other metabolic disorders 6.075e-34 17.346 1.428 SERPINA1 rs141620200 14:94379607:C:A 14 94379607 C A 14:94845944 0.958282 0.00169575 2 621 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of liver and intrahepatic bile ducts 6.66e-05 6.2529 1.5679 SERPINA1 rs17580 14:94380925:T:A 14 94380925 T A 14:94847262 0.980194 3316 missense_variant recessive Pathogenic, other Conflicting criteria provided, multiple submitters, no conflicts Path_Criteria_multSubmitter_confl Alpha-1-antitrypsin deficiency;Alpha-1-antitrypsin deficiency;Alpha-1-antitrypsin deficiency;Alpha-1-antitrypsin deficiency;Alpha-1-antitrypsin deficiency;Chronic obstructive pulmonary disease;PI S;not provided Urolithiasis 0.000241 -0.4476 0.1219 Congenital malformations of the respiratory system 0.001986 45.653 14.763 SERPINA1 rs28929470 14:94381049:G:A 14 94381049 G A 14:94847386 0.976475 0.000688645 2 251 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myeloproliferative diseases 8.22e-06 6.7825 1.5209 SERPINA1 rs6647 14:94381078:A:G 14 94381078 A G 14:94847415 0.999542 74851 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of lip, oral cavity and pharynx 0.000792 -0.5079 0.1514 Disorders of skin appendages 6.665e-06 -0.109 0.024 SERPINA1 rs709932 14:94382864:C:T 14 94382864 C T 14:94849201 0.984148 41416 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of anus and rectum 0.000501 0.1239 0.0356 Acute appendicitis, with complications 0.0003256 0.264 0.073 SERPINA3 rs4934 14:94614466:G:A 14 94614466 G A 14:95080803 0.988169 90532 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Soft tissue disorders related to use, overuse and pressure 0.00129 0.0848 0.0264 Olecranon bursitis 0.0003597 0.158 0.044 SERPINA3 rs79181968 14:94614477:C:T 14 94614477 C T 14:95080814 0.916629 2671 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Outcome of delivery 0.00073 0.4681 0.1386 Other disorders of conjunctiva 0.001407 8.815 2.761 GSC rs552249582 14:94769867:G:GCGC 14 94769867 G GCGC 14:95236204 0.99215 17441 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol abuse, main dg 0.000689 -0.2516 0.0741 Abnormal findings on diagnostic imaging of breast 0.001264 4.515 1.4 DICER1 rs149723645 14:95096019:A:G 14 95096019 A G 14:95562356 0.981915 442 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Open wound of lower leg 0.00285 1.897 0.6357 DICER1 rs145551486 14:95096029:A:C 14 95096029 A C 14:95562366 0.983822 645 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter DICER1-related pleuropulmonary blastoma cancer predisposition syndrome;Hereditary cancer-predisposing syndrome;Pleuropulmonary blastoma;not specified Universal eryhrodermia, KELA reimbursement 0.000387 8.6543 2.4385 Seborrhoeic dermatitis 0.002496 33.093 10.944 DICER1 rs1219156713 14:95096657:ATCC:A 14 95096657 ATCC A 14:95562994 0.818108 225 inframe_indel dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Ascending colon (other cancers excluded from controls) 5e-04 4.6842 1.3458 DICER1 rs147660793 14:95133400:G:A 14 95133400 G A 14:95599737 0.834561 83 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Premature separation of placenta [abruptio placentae] 0.00133 18.4727 5.754 CLMN rs118150470 14:95209454:C:T 14 95209454 C T 14:95675791 0.986923 368 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conjunctivitis 0.00382 -0.651 0.2251 GLRX5 rs71431696 14:95535293:C:T 14 95535293 C T 14:96001630 0.973273 1346 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Ascites 0.000201 2.1647 0.5823 Acute tubulo-interstitial nephritis 0.0004913 5.052 1.45 GLRX5 rs11628901 14:95544087:G:A 14 95544087 G A 14:96010424 0.99776 35488 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Transverse colon 0.00234 -0.2546 0.0836 Injuries to the neck 0.001104 0.31 0.095 ATG2B rs117507139 14:96332503:C:T 14 96332503 C T 14:96798840 0.980562 4925 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of ovary 0.000154 1.0103 0.2669 Hypermobility syndrome 0.001278 9.397 2.918 AK7 rs2275554 14:96404767:G:A 14 96404767 G A 14:96871104 0.994015 59448 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructed labour due to malposition and malpresentation of fetus 0.00079 -0.1158 0.0345 Conductive and sensorineural hearing loss 0.0001279 0.09 0.023 AK7 rs2369679 14:96456415:C:G 14 96456415 C G 14:96922752 0.995056 64966 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis, strict definition with reimbursement 0.000394 0.0963 0.0272 Ankylosing spondylitis, strict definition 0.0002077 -0.184 0.05 AK7 rs116298211 14:96486941:T:C 14 96486941 T C 14:96953278 0.988896 717 missense_variant recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Osteoporosis 0.000154 1.3511 0.3571 VRK1 rs1342007587 14:96860722:AAAC:A 14 96860722 AAAC A 14:97327059 0.80832 2119 inframe_indel recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease (Late onset) 0.000208 -0.836 0.2254 Synovial cyst of popliteal space [Baker] 0.0002868 16.698 4.604 DEGS2 rs140696950 14:100146860:G:A 14 100146860 G A 14:100613197 0.988536 1189 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.000184 5.3916 1.4415 0.000883 -3.345 1.006 WARS rs143974221 14:100369161:G:C 14 100369161 G C 14:100835498 0.993452 0.0125807 76 4546 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hard cardiovascular diseases 2.78e-05 0.2294 0.0547 Superficial injury of wrist and hand 2.166e-05 5.363 1.263 BEGAIN rs146033303 14:100539098:G:T 14 100539098 G T 14:101005435 0.953416 10644 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic conjunctivitis 0.00089 0.6753 0.2032 Gastrointestinal diseases 2.457e-05 0.351 0.083 BEGAIN rs35286207 14:100539225:C:T 14 100539225 C T 14:101005562 0.997121 0.00831274 46 3008 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unstable angina pectoris 5.72e-05 0.4952 0.1231 Osteomyelitis 8.917e-06 22.406 5.044 DLK1 rs2273607 14:100732089:G:A 14 100732089 G A 14:101198426 0.994999 0.0136885 100 4929 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hard cardiovascular diseases 1.87e-05 0.2241 0.0524 Systemic atrophies primarly affecting the central nervous system 8.533e-05 10.97 2.792 RTL1 rs61993318 14:100881145:C:T 14 100881145 C T 14:101347482 0.989027 0.00824469 24 3005 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other pleural conditions 3.17e-05 1.2417 0.2984 Systemic sclerosis 8.975e-06 92.764 20.89 RTL1 rs143429892 14:100881449:G:A 14 100881449 G A 14:101347786 0.968813 2803 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Valvular heart disease including rheumatic fever 0.00164 0.1815 0.0576 Benign neoplasm: Colon 0.0006383 5.002 1.465 RTL1 rs142029300 14:100883594:C:T 14 100883594 C T 14:101349931 0.954088 0.0156429 110 5637 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of psychological developtment 1.33e-05 0.7209 0.1655 Type 2 diabetes with ophthalmic complications 0.0002851 4.082 1.125 RTL1 rs186046088 14:100884674:T:G 14 100884674 T G 14:101351011 0.884843 287 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inguinal hernia 0.000479 0.9092 0.2603 DYNC1H1 rs200722698 14:102005129:G:A 14 102005129 G A 14:102471466 0.958369 257 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Lesion of plantar nerve 0.000277 4.8938 1.346 DYNC1H1 rs141525226 14:102015282:C:T 14 102015282 C T 14:102481619 0.993412 520 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Suppurative and unspecified otitis media 0.000895 0.8729 0.2628 Fourth [trochlear] nerve palsy 0.0002814 241.756 66.566 DYNC1H1 rs150888094 14:102015293:A:C 14 102015293 A C 14:102481630 0.946538 120 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Biomechanical lesions, not elsewhere classified 0.000549 12.0357 3.4829 DYNC1H1 rs141696238 14:102040310:C:T 14 102040310 C T 14:102506647 0.980368 16372 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, axonal, type 2O;Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not specified Burn and corrosion of ankle and foot 0.00123 0.9874 0.3055 Cauda equina syndrome 0.0009402 5.01 1.515 DYNC1H1 rs138428684 14:102041574:C:G 14 102041574 C G 14:102507911 0.9151 772 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, axonal, type 2O;History of neurodevelopmental disorder;not provided;not specified Other disorders of Eustachian tube 0.00101 4.5788 1.3923 Complications of other internal prosthetic devices, implants and grafts 0.001394 56.994 17.834 DYNC1H1 rs10129889 14:102041719:C:A 14 102041719 C A 14:102508056 0.999888 0.0930379 3278 30903 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;History of neurodevelopmental disorder;Intellectual Disability, Dominant;Spinocerebellar Ataxia, Dominant;not provided;not specified Fall on same level 6.94e-05 0.4827 0.1213 Fall on same level 0.0001588 1.114 0.295 TECPR2 rs11845676 14:102431867:G:A 14 102431867 G A 14:102898204 0.981401 0.00142084 0 522 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified anaemias 2.41e-06 1.6685 0.3539 TECPR2 rs2273906 14:102432026:C:T 14 102432026 C T 14:102898363 0.996013 13617 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 49, autosomal recessive;not specified Disorders of lipoprotein metabolism and other lipidaemias 0.00046 0.1357 0.0387 Circumscribed brain atrophy 0.0001115 5.743 1.486 TECPR2 rs118141823 14:102434619:C:T 14 102434619 C T 14:102900956 0.982328 5889 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 49, autosomal recessive;not specified Other and specified injuries of hip and thigh 0.000313 1.7624 0.4889 Abnormal findings on diagnostic imaging of other body structures 7.551e-05 6.273 1.585 TECPR2 rs10149146 14:102434864:A:G 14 102434864 A G 14:102901201 0.99753 61630 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other arthritis (FG) 3e-04 -0.1035 0.0286 Diabetic maculopathy 0.0005595 0.226 0.066 TECPR2 rs45467297 14:102434867:C:G 14 102434867 C G 14:102901204 0.980787 0.0312449 370 11109 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 49, autosomal recessive;not specified Mental retardation 9.22e-05 0.7462 0.1908 Acute renal failure 0.0005031 1.759 0.506 TECPR2 rs144147210 14:102445811:G:C 14 102445811 G C 14:102912148 0.993417 6644 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spastic paraplegia 49, autosomal recessive Other nutritional anaemias 0.000385 1.9663 0.5539 Alzheimer's disease, wide definition (more controls excluded) 0.0002614 1.522 0.417 TECPR2 rs62000389 14:102445813:C:A 14 102445813 C A 14:102912150 0.997147 4676 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 49, autosomal recessive;not specified Generalized anxiety disorder 0.000759 0.5468 0.1624 Hyperlipidaemia, other/unspecified 0.0001759 2.564 0.684 TECPR2 rs72700618 14:102449828:C:T 14 102449828 C T 14:102916165 0.955567 837 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 49, autosomal recessive;not specified Other disorders of kidney and ureter 0.000998 1.5673 0.4762 Maternal care for other known or suspected fetal problems 8.852e-06 4.957 1.115 AMN rs190222721 14:102929667:T:C 14 102929667 T C 14:103396004 0.978405 3951 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications following abortion and ectopic and molar pregnancy 0.000777 2.4853 0.7395 Congenital obstructive defects of renal pelvis and congenital malformations of ureter 3.483e-05 40.745 9.843 AMN rs146499374 14:102929723:A:G 14 102929723 A G 14:103396060 0.826962 0.00109149 4 397 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified vasculitis limited to skin 3.77e-05 10.7534 2.6093 AMN rs36040113 14:102930656:C:CGCCGGG 14 102930656 C CGCCGGG 14:103396993 0.97295 3881 inframe_indel recessive Uncertain significance VUS no assertion criteria provided no_Criteria Malignant neoplasm of oesophagus 0.000395 1.9618 0.5537 Other and/or unspecified nontoxic goitre 0.0003093 8.275 2.294 APOPT1 rs2274268 14:103563041:C:A 14 103563041 C A 14:104029378 0.912074 211 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deficiency of other B group vitamins 0.000907 10.0235 3.0212 APOPT1 rs2274268 14:103563041:C:G 14 103563041 C G 14:104029378 0.98832 0.296567 32740 76215 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for other conditions predominantly related to pregnancy 4.64e-05 -0.1311 0.0322 Monoarthritis, not elsewhere classified 0.0008788 0.274 0.082 APOPT1 rs2274267 14:103563112:G:A 14 103563112 G A 14:104029449 0.990434 0.309468 35354 78341 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemmorrhoids and perianal venous thrombosis 8.86e-05 -0.1145 0.0292 Somnolence, stupor and coma 0.0004656 0.269 0.077 XRCC3 rs861539 14:103699416:G:A 14 103699416 G A 14:104165753 0.999704 0.308739 35404 78023 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Maternal care for other conditions predominantly related to pregnancy 3.17e-05 -0.1315 0.0316 Osteoporosis with pathological fracture (FG) 0.0007952 0.243 0.072 PPP1R13B rs143920315 14:103741949:G:T 14 103741949 G T 14:104208286 0.954659 122 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified enthesopathies of lower limb, excluding foot 0.000118 10.3777 2.6947 PPP1R13B rs140395624 14:103754193:T:C 14 103754193 T C 14:104220530 0.945074 156 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified rheumatoid arthritis 0.000591 4.6661 1.3582 TDRD9 rs142035530 14:103966760:A:G 14 103966760 A G 14:104433097 0.884932 898 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Larynx (other cancers excluded from controls) 0.000837 3.6886 1.1043 Abnormal findings in secretions and smears from cervix uteri vagina vulva 0.0006767 10.676 3.141 INF2 rs181694819 14:104707849:C:T 14 104707849 C T 14:105174186 0.975231 0.00311932 4 1142 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal segmental glomerulosclerosis;not provided;not specified Other arterial embolism and thrombosis 1.74e-05 4.7182 1.0984 Problems related to negative life events in childhood 0.002091 39.471 12.828 INF2 rs142678449 14:104712847:G:A 14 104712847 G A 14:105179184 0.964828 2932 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, dominant intermediate E;Focal segmental glomerulosclerosis;Focal segmental glomerulosclerosis 5;not provided;not specified Childhood asthma (age<16) (more controls excluded) 0.000616 0.6351 0.1855 Other maternal disorders predominantly related to pregnancy 5.639e-05 2.664 0.662 INF2 rs199873407 14:104713279:C:T 14 104713279 C T 14:105179616 0.917478 1684 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, dominant intermediate E;Focal segmental glomerulosclerosis;Focal segmental glomerulosclerosis 5 Mood disorders (more controls excluded) 0.00014 0.3634 0.0954 Benign neoplasm: Connective and other soft tissue, unspecified (other cancers excluded from controls) 0.001096 74.868 22.932 INF2 rs200369827 14:104714296:G:A 14 104714296 G A 14:105180633 0.927445 0.000694089 0 255 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-allergic asthma 2.36e-05 3.2556 0.77 INF2 rs34251364 14:104714448:C:T 14 104714448 C T 14:105180785 0.990244 17916 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal segmental glomerulosclerosis;Focal segmental glomerulosclerosis 5;not specified Disturbances of smell and taste 0.000227 0.5951 0.1614 Other vitreous opacities 0.001587 2.043 0.647 ZBTB42 rs4983387 14:104801891:G:A 14 104801891 G A 14:105268228 0.988979 34356 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified psoriasis 0.000496 -0.3406 0.0978 Acute alcohol intoxication 0.0002943 0.081 0.022 CEP170B rs41304371 14:104883233:C:T 14 104883233 C T 14:105349570 0.963826 1214 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral infections of the central nervous system 0.000663 1.6852 0.495 AHNAK2 rs143110230 14:104955563:G:C 14 104955563 G C 14:105421900 0.981191 801 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of breast, intraductal 0.000885 2.3627 0.7106 JAG2 rs34728766 14:105143063:G:A 14 105143063 G A 14:105609400 0.961609 1927 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyrotoxicosis 0.000446 0.6622 0.1886 Retinal breaks without detachment 0.0001705 21.843 5.811 CRIP1 rs7824 14:105488350:G:T 14 105488350 G T 14:105954687 0.971589 0.0301099 238 10824 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-rheumatic valve diseases 9.3e-07 0.2666 0.0543 Nail disorders 8.286e-05 4.146 1.053 IGHM rs113762053 14:105855988:G:C 14 105855988 G C 14:106322093 0.889008 0.00111326 6 403 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other abnormal findings in urine 9.9e-05 9.5206 2.4455 Benign neoplasm: Short bones of upper limb 0.001649 136.189 43.273 MKRN3 rs191451278 15:23566348:G:A 15 23566348 G A 15:23811495 0.974395 3072 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected abnormality of pelvic organs 0.00029 0.5644 0.1557 Congenital malformations of the respiratory system 0.001825 50.03 16.049 MKRN3 rs201786270 15:23567239:C:G 15 23567239 C G 15:23812386 0.989106 0.0077738 50 2806 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anomalies of pupillary function 7.32e-05 3.2429 0.8178 Chalazion 0.0002606 7.45 2.04 MAGEL2 rs2233070 15:23644592:G:T 15 23644592 G T 15:23889739 0.991815 19448 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Duodenal ulcer 0.00081 -0.2896 0.0865 0.0006403 0.322 0.094 MAGEL2 rs138628273 15:23644726:G:C 15 23644726 G C 15:23889873 0.981892 2439 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Prader-Willi syndrome;Schaaf-yang syndrome;not provided;not specified Coronary artery bypass grafting 0.000255 0.5562 0.1521 Other diseases of urinary system 0.0004675 2.117 0.605 MAGEL2 rs146970674 15:23645462:C:G 15 23645462 C G 15:23890609 0.95511 229 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of binocular movement 0.000799 10.584 3.1565 NPAP1 rs199753715 15:24676003:C:T 15 24676003 C T 15:24921150 0.955853 891 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behavioural disorders (more controls excluded) 0.000223 5.2395 1.4194 NPAP1 rs34629208 15:24676906:G:T 15 24676906 G T 15:24922053 0.965645 1938 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Background retinopathy and retinal vascular changes 0.000713 2.5384 0.75 Pyogenic arthritis 0.0002752 35.705 9.816 NPAP1 rs142242477 15:24678973:C:T 15 24678973 C T 15:24924120 0.996486 6796 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other functional intestinal disroders 0.00051 0.249 0.0717 Malignant neoplasm of small intestine (other cancers excluded from controls) 0.0003491 17.536 4.904 UBE3A rs147145506 15:25371582:C:T 15 25371582 C T 15:25616729 0.973947 3414 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Angelman syndrome;History of neurodevelopmental disorder;not specified Coxarthrosis, primary, with hip surgery 0.00111 -0.3624 0.1112 Dermatitis and eczema 0.0007126 1.641 0.485 ATP10A rs116641809 15:25680137:C:T 15 25680137 C T 15:25925284 0.93938 1492 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of eyelid, including canthus 0.000885 1.0404 0.3129 Campylobacter enteritis 0.001115 73.4 22.516 ATP10A rs2076745 15:25681005:T:C 15 25681005 T C 15:25926152 0.945343 0.00160321 4 585 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol dependence 5.34e-05 1.1964 0.2961 Antenatal screening 0 4.157 0 ATP10A rs77410940 15:25694911:C:T 15 25694911 C T 15:25940058 0.99257 2018 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Helminthiases 0.000248 3.0614 0.8354 Chronic lymphocytic leukaemia 0.00076 108.416 32.2 ATP10A rs73361174 15:25695022:G:A 15 25695022 G A 15:25940169 0.882247 98 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disturbance of activity and attention 0.000532 11.6842 3.3728 ATP10A rs78266472 15:25781102:C:T 15 25781102 C T 15:26026249 0.981878 3442 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deforming dorsopathies 0.000167 0.4825 0.1282 Respiratory disorders in diseases classified elsewhere 0.001526 58.34 18.405 ATP10A rs140289242 15:25862799:C:G 15 25862799 C G 15:26107946 0.970521 702 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and unspecified sites (other cancers excluded from controls) 0.000966 3.7281 1.1296 Hypertensive diseases 0 2.188 0 GABRB3 rs25409 15:26773694:G:A 15 26773694 G A 15:27018841 0.923736 348 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epilepsy, childhood absence 5;Seizures;not specified Other keratitis 0.00067 2.8891 0.8494 Other surgical follow-up care 0.0004421 164.505 46.82 GABRG3 rs28399526 15:26977087:G:A 15 26977087 G A 15:27222234 0.984144 0.00378619 6 1385 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abdominal and pelvic pain 1.49e-05 0.2915 0.0673 Disorders of sclera, cornea, iris and ciliary body 0.0003711 8.939 2.511 OCA2 rs74653330 15:27983407:C:T 15 27983407 C T 15:28228553 0.998927 0.0441359 812 15403 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Tyrosinase-positive oculocutaneous albinism;not provided;not specified Skin changes due to chronic exposure to nonionizing radiation 5.48e-39 0.8508 0.0651 Skin changes due to chronic exposure to nonionizing radiation 1.744e-11 1.466 0.218 OCA2 rs121918166 15:27985101:C:T 15 27985101 C T 15:28230247 0.974971 342 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gonarthrosis,primary 0.000166 0.839 0.2228 OCA2 rs1800407 15:27985172:C:T 15 27985172 C T 15:28230318 0.980961 0.0451648 766 15827 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oculocutaneous albinism;Skin/hair/eye pigmentation, variation in, 1;not specified Actinic keratosis 4.46e-08 0.3475 0.0635 Dislocation, sprain and strain of joints and ligaments of head 0.0006222 2.6 0.76 OCA2 rs1800401 15:28014907:G:A 15 28014907 G A 15:28260053 0.988038 11155 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oculocutaneous albinism;Skin/hair/eye pigmentation, variation in, 1;not specified Allergic urticaria 0.000311 0.5083 0.141 Herpesviral keratitis and keratoconjunctivitis 0.001013 3.132 0.953 OCA2 rs33929465 15:28018408:G:A 15 28018408 G A 15:28263554 0.970646 159 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transplanted organ and tissue status 0.00199 3.8025 1.2302 HERC2 rs118112076 15:28229540:G:C 15 28229540 G C 15:28474686 0.959228 782 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the musculoskeletal system and connective tissue 0.000641 -0.2903 0.0851 HERC2 rs200864382 15:28233170:T:G 15 28233170 T G 15:28478316 0.805467 203 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Ectopic pregnancy 0.000171 3.5297 0.9393 APBA2 rs142678624 15:29054048:G:A 15 29054048 G A 15:29346251 0.833947 1526 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute bronchitis 0.000186 0.5985 0.1601 Third [oculomotor] nerve palsy 0.0004045 177.077 50.062 TJP1 rs2229517 15:29734378:T:C 15 29734378 T C 15:30026582 0.980632 2877 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Motor neuron disease (with DMD) 0.00016 2.892 0.7662 Symptoms and signs involving cognition, perception, emotional state and behaviour 0.0004775 2.316 0.663 GOLGA8J rs201797381 15:30093429:A:C 15 30093429 A C 15:30385632 0.875444 0.00880268 58 3176 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of cardiac and vascular prosthetic devices, implants and grafts 9.6e-05 2.6041 0.6676 Cervical root disorders 0.001871 42.877 13.787 FAN1 rs4779794 15:30905361:G:A 15 30905361 G A 15:31197564 0.994809 91145 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 0.000137 -0.0369 0.0097 Hypertensive Heart Disease 6.445e-05 -0.094 0.023 FAN1 rs150748572 15:30905381:G:A 15 30905381 G A 15:31197584 0.85775 355 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes insipidus 0.000487 11.4987 3.2968 FAN1 rs151322829 15:30905792:C:T 15 30905792 C T 15:31197995 0.92135 2196 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of lower limb, including hip 0.000708 2.327 0.6871 Diabetic maculopathy 0.0007998 27.224 8.12 FAN1 rs150393409 15:30910758:G:A 15 30910758 G A 15:31202961 0.996403 1665 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Interstitial nephritis, karyomegalic Thyroiditis, unspecified 0.00012 4.0233 1.0463 Optic atrophy 0.0005977 133.28 38.827 TRPM1 rs61734295 15:31001956:C:T 15 31001956 C T 15:31294159 0.998802 4499 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Stationary Night Blindness, Recessive Other spirochaetal diseases 0.000556 0.7582 0.2196 Fracture of lumbar spine and pelvis 0.0002012 4.678 1.258 TRPM1 rs12898290 15:31002140:A:T 15 31002140 A T 15:31294343 0.996954 22346 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Hypotension 0.000286 -0.2852 0.0786 Disorders of ocular muscles, binocular movement, accommodation and refraction 0.000133 0.402 0.105 TRPM1 rs3784587 15:31002370:G:A 15 31002370 G A 15:31294573 0.98819 2421 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Stationary Night Blindness, Recessive;not specified Depression medications 0.000208 0.2535 0.0683 Cardiovascular diseases (excluding rheumatic etc) 3.346e-05 -1.565 0.377 TRPM1 rs3784588 15:31002451:C:T 15 31002451 C T 15:31294654 0.997576 9840 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Anxiety disorders (more controls excluded) 0.000548 0.1447 0.0419 Lung diseases due to external agents 0.0003189 2.352 0.653 TRPM1 rs61734298 15:31002499:G:T 15 31002499 G T 15:31294702 0.978585 18432 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Pyogenic granuloma 0.000154 1.0405 0.2749 Acute posthaemorrhagic anaemia 0.001722 2.008 0.641 TRPM1 rs3784589 15:31002511:C:A 15 31002511 C A 15:31294714 0.997014 22348 LC recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Hypotension 0.000282 -0.2854 0.0786 Disorders of ocular muscles, binocular movement, accommodation and refraction 0.0002358 0.384 0.105 TRPM1 rs117855013 15:31002793:C:T 15 31002793 C T 15:31294996 0.96227 4075 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol-induced chronic pancreatitis 0.000344 1.0596 0.296 Alcohol-induced chronic pancreatitis 0.00122 9.163 2.833 TRPM1 rs17227996 15:31002948:T:G 15 31002948 T G 15:31295151 0.981436 0.0745397 2054 25331 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Stationary Night Blindness, Recessive Malignant neoplasm of meninges 5.82e-05 0.4928 0.1226 Actinic keratosis 0.0006391 0.427 0.125 TRPM1 rs182549235 15:31026219:C:G 15 31026219 C G 15:31318422 0.903657 521 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign mammary dysplasia 0.00043 1.8871 0.536 TRPM1 rs138944426 15:31040285:C:G 15 31040285 C G 15:31332488 0.951974 1405 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Stationary Night Blindness, Recessive;not specified Carcinoma in situ of skin of lower limb, including hip (other cancers excluded from controls) 0.000118 6.2604 1.6262 Problems related to certain psychosocial circumstances 0.003361 27.794 9.477 TRPM1 rs17815774 15:31042159:C:T 15 31042159 C T 15:31334362 0.963349 6015 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Abnormalities of forces of labour 0.000888 0.5377 0.1618 Maternal care related to the fetus and amniotic cavity and possible delivery problems 9.235e-06 2.012 0.454 TRPM1 rs141540242 15:31060546:G:T 15 31060546 G T 15:31352749 0.994518 2202 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Isolated proteinuria with specified morphological lesion 0.000517 2.1854 0.6295 Guttate psoriasis 0.0009456 88.034 26.627 TRPM1 rs138886378 15:31067145:G:A 15 31067145 G A 15:31359348 0.990842 2008 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Stationary Night Blindness, Recessive;Congenital stationary night blindness, type 1C;not provided Allergic purpura 0.00182 1.737 0.5571 Otosclerosis 0.0003593 14.235 3.989 TRPM1 rs2241493 15:31070149:C:T 15 31070149 C T 15:31362352 0.992719 61154 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of aortic and mitral valves 0.00159 0.3067 0.0971 Congenital malformations of aortic and mitral valves 0.0005878 0.2 0.058 TRPM1 rs4779816 15:31076920:A:G 15 31076920 A G 15:31369123 0.998594 0.810421 241428 56311 start_lost recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other orthopaedic follow-up care 1.48e-05 -0.2928 0.0676 Other orthopaedic follow-up care 0.0002485 -0.144 0.039 ARHGAP11A rs140472511 15:32629654:G:C 15 32629654 G C 15:32921855 0.901775 1466 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations of circulatory system 0.000988 2.9017 0.8809 Adhesive middle ear disease 0.0004979 169.348 48.637 ARHGAP11A rs555387669 15:32637142:CAT:C 15 32637142 CAT C 15:32929343 0.976491 544 pLoF unknown Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Inborn genetic diseases Other benign neoplasms of skin 0.000222 1.0655 0.2886 Brachial plexus disorders 0.002765 33.031 11.037 GREM1 rs111262341 15:32730793:C:G 15 32730793 C G 15:33022994 0.922206 214 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hammer toe(s) (acquired) 0.000477 2.4634 0.7052 FMN1 rs906030944 15:32798901:CCTT:C 15 32798901 CCTT C 15:33091102 0.986536 11632 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of wrist and hand 0.000363 0.1985 0.0557 Radiculopathy 0.0004319 1.256 0.357 FMN1 rs150962800 15:32968772:C:T 15 32968772 C T 15:33260973 0.988039 0.0147365 80 5334 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Cutaneous abscess, furuncle and carbuncle 6.73e-05 0.4708 0.1181 Bacterial, viral and other infectious agents 0.0004197 6.405 1.816 FMN1 rs117804335 15:32968984:G:A 15 32968984 G A 15:33261185 0.992525 13478 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Polymyalgia rheumatica 0.00197 -0.3582 0.1158 Benign neoplasm: Vagina 0.0003518 6.99 1.956 FMN1 rs77531455 15:32969087:G:A 15 32969087 G A 15:33261288 0.964829 1066 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Focal epilepsy 0.000662 2.5726 0.7555 FMN1 rs141655944 15:33067749:C:G 15 33067749 C G 15:33359950 0.996367 5760 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for specific procedures, not carried out 0.000294 1.0383 0.2868 Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.0004579 1.396 0.398 FMN1 rs149624435 15:33153237:G:A 15 33153237 G A 15:33445438 0.986362 0.0154877 94 5596 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyshidrosis [pompholyx] 3.13e-05 2.2447 0.5391 Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.0006478 19.638 5.758 RYR3 rs146838868 15:33579984:A:G 15 33579984 A G 15:33872185 0.994274 6263 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Labour and delivery complicated by umbilical cord complications 0.000544 0.9681 0.2799 0.0008347 11.516 3.447 RYR3 rs2229119 15:33629953:A:G 15 33629953 A G 15:33922154 0.995814 0.00730291 20 2663 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Abnormal blood-pressure reading, without diagnosis 6.48e-05 2.2015 0.5511 Other medical care 0.0001199 8.973 2.333 RYR3 rs41279210 15:33724099:G:A 15 33724099 G A 15:34016300 0.99197 404 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Non-allergic asthma (mode) (more controls excluded) 0.00028 1.6958 0.4668 RYR3 rs200294137 15:33731519:A:G 15 33731519 A G 15:34023720 0.984171 298 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Fracture at wrist and hand level 0.000968 1.328 0.4025 RYR3 rs41279214 15:33739987:C:G 15 33739987 C G 15:34032188 0.996912 1109 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary eosinophilia, not elsewhere classified 0.00102 4.5222 1.3763 RYR3 rs201914506 15:33750015:A:G 15 33750015 A G 15:34042216 0.993961 600 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Foreign body in ear 0.00131 5.8228 1.8118 Sequelae of injuries of neck and trunk 0.0004607 166.733 47.602 RYR3 rs61996335 15:33780327:C:G 15 33780327 C G 15:34072528 0.993643 1739 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Benign neoplasm: Other and unspecified parts of small intestine 0.000179 2.888 0.7707 Endometriosis 8.473e-06 3.785 0.85 RYR3 rs200830195 15:33785748:G:A 15 33785748 G A 15:34077949 0.996799 1726 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Urethral stricture 0.000406 1.8043 0.5103 RYR3 rs377341748 15:33785974:G:A 15 33785974 G A 15:34078175 0.94634 134 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Coronary artery bypass grafting 0.000126 2.9195 0.7613 RYR3 rs150028316 15:33801900:T:C 15 33801900 T C 15:34094101 0.964066 935 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Other disorders of fluid, electrolyte and acid-base balance 0.000842 0.9466 0.2835 Other/unspecified cytomegaloviral diseases 0.0003992 189.999 53.662 RYR3 rs146201205 15:33821528:A:G 15 33821528 A G 15:34113729 0.999619 3239 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Thyrotoxicosis, other and/or unspecified 0.00269 0.4979 0.1659 Dermatitis due to substances taken internally 0.0007923 11.637 3.468 RYR3 rs202181075 15:33835049:A:C 15 33835049 A C 15:34127250 0.996658 4707 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Universal eryhrodermia, KELA reimbursement 0.000379 2.5484 0.717 Other cataract 0.0006535 1.808 0.531 RYR3 rs201375567 15:33837819:G:A 15 33837819 G A 15:34130020 0.986462 0.000440951 0 162 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vascular disorders of the intestines 9.85e-05 7.7822 1.9984 RYR3 rs201791791 15:33841953:G:A 15 33841953 G A 15:34134154 0.990189 382 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of lipoprotein metabolism and other lipidaemias 0.000913 0.7871 0.2374 RYR3 rs182257230 15:33857882:G:A 15 33857882 G A 15:34150083 0.957102 5305 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Panniculitis affecting regions of neck and back 0.000119 1.1145 0.2896 Disorders of puberty 0.0001477 23.401 6.167 SLC12A6 rs140916001 15:34250979:C:G 15 34250979 C G 15:34543180 0.987331 0.00211221 10 766 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Andermann syndrome;not provided;not specified Seborrhoeic keratosis 8.57e-05 1.7159 0.4368 Angina pectoris 0.0006226 3.564 1.042 SLC12A6 rs150751809 15:34318585:G:A 15 34318585 G A 15:34610786 0.911027 191 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Acute appendicitis, no complications 0.00153 1.0817 0.3414 NOP10 rs146261631 15:34343040:C:G 15 34343040 C G 15:34635241 0.990203 0.0276356 318 9835 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyskeratosis Congenita, Recessive;Dyskeratosis congenita autosomal recessive 1;not provided;not specified Other and unspecified disorders of psychological development 8.66e-05 1.7055 0.4345 Other diseases of oesophagus 0.002087 1.881 0.611 NUTM1 rs73376010 15:34343662:G:C 15 34343662 G C 15:34635863 0.989533 37945 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectum 0.000127 0.2149 0.0561 Trochanteric bursitis 0.0007913 0.429 0.128 NUTM1 rs118111266 15:34356535:C:T 15 34356535 C T 15:34648736 0.962408 7222 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Campylobacter enteritis 0.000671 1.1237 0.3304 Perineal laceration during delivery 0.0004718 5.43 1.553 C15orf41 rs139465273 15:36645260:C:T 15 36645260 C T 15:36937461 0.953789 0.00169031 4 617 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiovascular diseases 6.32e-05 -0.4163 0.1041 Acute lymphadenitis 0.002661 35.241 11.73 C15orf41 rs3784678 15:36654102:C:G 15 36654102 C G 15:36946303 0.99888 0.43478 69462 90271 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Failed attempted abortion 4.08e-05 -0.5024 0.1225 Acne 0.0001049 0.162 0.042 RASGRP1 rs61759869 15:38501278:G:A 15 38501278 G A 15:38793479 0.995764 0.00158416 0 582 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammation of lacrimal passages (chronic) 8.27e-05 8.3685 2.1259 THBS1 rs2292305 15:39588621:A:G 15 39588621 A G 15:39880822 0.995505 34577 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other renal tubulo-interstitial diseases 0.000119 -0.5425 0.141 Arterial embolism and thrombosis 0.0001974 0.809 0.217 EIF2AK4 rs2291627 15:39967647:A:C 15 39967647 A C 15:40259848 0.996219 34281 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Obesity 0.000587 0.1066 0.031 Injuries to the shoulder and upper arm 0.001379 -0.142 0.044 EIF2AK4 rs2307105 15:39973598:A:G 15 39973598 A G 15:40265799 0.999651 33509 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cervicocranial syndrome 0.00029 -0.2586 0.0714 Other abnormal products of conception 0.0007175 0.066 0.02 EIF2AK4 rs200699205 15:39976797:G:GGACGAC 15 39976797 G GGACGAC 15:40268998 0.997121 0.0799645 2440 26938 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of skin (other cancers excluded from controls) 8.91e-05 -0.1247 0.0318 Carcinoma in situ of skin 5.879e-05 0.938 0.233 EIF2AK4 rs35602605 15:40016658:G:T 15 40016658 G T 15:40308859 0.984749 48519 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified disorders of synovium and tendon +Other specified/unspecified bursopathies 0.000192 -0.3079 0.0826 Crushing injury of wrist and hand 0.001152 1.038 0.319 BUB1B rs1801376 15:40185630:G:A 15 40185630 G A 15:40477831 0.999237 71639 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polycystic ovarian syndrome 0.000787 0.2528 0.0753 Polycystic ovarian syndrome 1.823e-05 0.203 0.047 BUB1B rs28989188 15:40196713:A:C 15 40196713 A C 15:40488914 0.972296 425 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pregnancy with abortive outcome 0.00175 -0.5698 0.1821 PLCB2 rs773846625 15:40292073:AC:A 15 40292073 AC A 15:40584274 0.996186 0.0147991 74 5363 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anankastic personality disorder 1.27e-05 1.5297 0.3504 Obesity 7.819e-05 2.369 0.6 IVD rs144418134 15:40415438:C:G 15 40415438 C G 15:40707637 0.984376 651 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Alopecia areata 0.000772 4.8499 1.4424 CASC5 rs7177192 15:40606445:G:C 15 40606445 G C 15:40898643 0.997743 0.831742 254172 51400 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic multinodular goitre 9.85e-05 0.1497 0.0384 Nontoxic multinodular goitre 8.358e-05 0.086 0.022 CASC5 rs8030491 15:40610853:G:A 15 40610853 G A 15:40903051 0.958813 5389 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 0.000455 0.5624 0.1604 Habit and impulse disorders 0.0004544 12.925 3.686 CASC5 rs12911738 15:40611486:A:G 15 40611486 A G 15:40903684 0.997684 0.831701 254152 51405 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic multinodular goitre 9.47e-05 0.1501 0.0384 Nontoxic multinodular goitre 8.072e-05 0.087 0.022 CASC5 rs113313996 15:40621478:A:G 15 40621478 A G 15:40913676 0.994437 330 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pathological/recurrent dislocation and subluxation of joint, not elsewhere classified 0.000155 3.3046 0.8735 CASC5 rs2412541 15:40621642:G:T 15 40621642 G T 15:40913840 0.997844 51362 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic multinodular goitre 0.000111 0.1486 0.0385 Nontoxic multinodular goitre 9.372e-05 0.086 0.022 CASC5 rs11858113 15:40621979:T:C 15 40621979 T C 15:40914177 0.9984 0.45695 76932 90946 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Rectum (other cancers excluded from controls) 1.81e-05 0.156 0.0364 0.0001345 -0.086 0.022 CASC5 rs33931006 15:40622633:C:G 15 40622633 C G 15:40914831 0.992555 4093 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Primary Microcephaly, Recessive;not specified Coronary angiopasty 0.00154 0.3109 0.0982 Injury of eye and orbit 0.001014 5.186 1.578 CASC5 rs8040502 15:40622992:A:G 15 40622992 A G 15:40915190 0.999878 0.831688 254110 51442 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nontoxic multinodular goitre 9.83e-05 0.1496 0.0384 Nontoxic multinodular goitre 8.338e-05 0.086 0.022 CASC5 rs17747633 15:40624039:A:G 15 40624039 A G 15:40916237 0.997433 0.375102 52068 85740 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Symptoms and signs involving cognition, perception, emotional state and behaviour 2.71e-05 0.0498 0.0119 Benign neoplasm: Peripheral nerves and autonomic nervous system 0.0001335 0.446 0.117 CASC5 rs16970911 15:40624603:A:G 15 40624603 A G 15:40916801 0.993076 41140 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension 0.000456 0.052 0.0148 Malignant neoplasm of small intestine (other cancers excluded from controls) 0.0003113 1.184 0.328 CASC5 rs183316447 15:40624883:G:A 15 40624883 G A 15:40917081 0.99434 0.0306842 374 10899 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary Microcephaly, Recessive Major coronary heart disease event excluding revascularizations 6.94e-05 0.1781 0.0448 Dorsopathies 0.0008747 0.325 0.098 CASC5 rs1466177135 15:40647074:GGTAAA:G 15 40647074 GGTAAA G 15:40939272 0.985964 0.00133374 0 490 pLoF unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other disorders of cornea 9.68e-05 3.1857 0.8172 SPINT1 rs142240169 15:40856790:G:A 15 40856790 G A 15:41148988 0.903633 0.0015651 8 567 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of thorax 4.23e-05 9.8292 2.4007 Chronic nephritic syndrome 0.002202 40.487 13.224 VPS18 rs34865655 15:40900641:G:A 15 40900641 G A 15:41192839 0.978987 0.00855771 32 3112 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Papulosquamous disorders 4.44e-05 0.478 0.1171 8.116e-05 2.205 0.56 DLL4 rs139491690 15:40932340:G:A 15 40932340 G A 15:41224538 0.985681 301 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supervision of high-risk pregnancy 0.00113 1.1426 0.3509 NDUFAF1 rs12900702 15:41387487:G:C 15 41387487 G C 15:41679685 0.987221 0.169186 10650 51507 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine 7.74e-05 -0.0981 0.0248 Ankylosing spondylitis 0.0004172 0.332 0.094 NDUFAF1 rs35227875 15:41396534:C:T 15 41396534 C T 15:41688732 0.996993 12976 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mitochondrial complex I deficiency;not provided;not specified Heart failure,strict 0.000387 -0.1577 0.0444 Open wound of wrist and hand 9.572e-05 0.793 0.203 NDUFAF1 rs200472799 15:41396845:G:C 15 41396845 G C 15:41689043 0.98505 1329 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mitochondrial complex I deficiency;not specified Hereditary corneal dystrophies 0.000128 3.9746 1.0375 Type 2 diabetes, wide definition 3.322e-05 4.859 1.171 NDUFAF1 rs3204853 15:41396968:C:A 15 41396968 C A 15:41689166 0.998683 76128 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes with ketoacidosis 0.000206 0.1849 0.0498 Renal tubulo-intestitial diseases 7.474e-05 0.064 0.016 NDUFAF1 rs1899 15:41397034:C:T 15 41397034 C T 15:41689232 0.998749 76122 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes with ketoacidosis 0.000206 0.1849 0.0498 Renal tubulo-intestitial diseases 6.957e-05 0.064 0.016 LTK rs148281714 15:41504154:C:A 15 41504154 C A 15:41796352 0.994786 2790 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinal breaks without detachment 0.000642 0.6961 0.2039 Hypermetropia 0.0001918 20.411 5.473 LTK rs148513655 15:41505523:G:T 15 41505523 G T 15:41797721 0.946611 0.0270722 320 9626 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of ankle and foot 4.27e-05 1.8666 0.4561 Shoulder lesions 0.0003539 0.621 0.174 MGA rs182187974 15:41669882:C:G 15 41669882 C G 15:41962080 0.994255 591 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psychiatric comorbidites (Asthma/COPD) 0.000927 -0.485 0.1464 MGA rs2695167 15:41736622:A:G 15 41736622 A G 15:42028820 0.982972 1568 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Any death 0.00113 -0.3567 0.1096 Gonarthrosis 0.0001027 3.061 0.788 MGA rs61757235 15:41749552:A:G 15 41749552 A G 15:42041750 0.979658 1881 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other neurological diseases 0.00224 0.3239 0.106 0.001175 -1.581 0.487 MGA rs199779997 15:41766760:A:C 15 41766760 A C 15:42058958 0.99759 1666 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Childhood asthma (age<16) 0.000298 0.841 0.2325 Erythema multiforme 0.001916 49.225 15.864 MAPKBP1 rs61729967 15:41812107:G:A 15 41812107 G A 15:42104305 0.926892 324 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter All-cause Heart Failure 0.000789 0.7623 0.2271 MAPKBP1 rs75869993 15:41814725:G:A 15 41814725 G A 15:42106923 0.943866 311 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Focal brain injury 0.00214 3.0474 0.9927 MAPKBP1 rs144329674 15:41819648:C:T 15 41819648 C T 15:42111846 0.983901 492 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degeneration of macula and posterior pole 0.000186 1.0838 0.29 Superficial injuries involving multiple body regions 0.0002892 250.633 69.144 MAPKBP1 rs201730244 15:41822021:G:A 15 41822021 G A 15:42114219 0.996804 469 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathies 0.000537 0.3896 0.1125 MAPKBP1 rs141214790 15:41823930:G:A 15 41823930 G A 15:42116128 0.987205 0.00066687 2 243 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other infective otitis externa 7.78e-05 6.4538 1.6334 SPTBN5 rs200163654 15:41856598:T:A 15 41856598 T A 15:42148796 0.955135 624 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Connective and other soft tissue of lower limb, including hip (other cancers excluded from controls) 0.000139 5.7466 1.5084 SPTBN5 rs139560192 15:41868553:C:T 15 41868553 C T 15:42160751 0.942261 1804 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Noninflammatory disorders of female genital tract 0.00118 -0.2234 0.0689 Other acute lower respiratory infections 0.0005103 4.863 1.399 SPTBN5 rs62002144 15:41892953:G:A 15 41892953 G A 15:42185151 0.99054 3381 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other neurological diseases 0.000837 0.2571 0.077 Cleft lip and cleft palate 0.003845 26.918 9.312 GANC rs145853612 15:42287751:G:A 15 42287751 G A 15:42579949 0.975708 1320 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Outcome of delivery 0.00077 0.6623 0.1969 0.0002372 2.794 0.76 GANC rs16973015 15:42292901:A:G 15 42292901 A G 15:42585099 0.906368 58 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute pharyngitis 0.00192 7.5425 2.4318 CAPN3 rs1801505 15:42384492:G:A 15 42384492 G A 15:42676690 0.985198 0.0271266 332 9634 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Limb-girdle muscular dystrophy, type 2A;not provided;not specified Other diseases of gallbladder 8.98e-05 0.8252 0.2107 Acute lymphadenitis 0.001443 2.554 0.802 CAPN3 rs1801449 15:42389001:G:A 15 42389001 G A 15:42681199 0.998808 30669 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Limb-Girdle Muscular Dystrophy, Recessive;Limb-girdle muscular dystrophy, type 2A;not provided;not specified Delirium, not induced by alcohol and other psychoactive substances 0.000168 -0.3053 0.0811 Diaphragmatic hernia 5.8e-05 0.353 0.088 CAPN3 rs2289293 15:42408354:G:A 15 42408354 G A 15:42700552 0.96662 0.00038379 0 141 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Weight loss 5.31e-05 9.268 2.2932 STARD9 rs148862329 15:42661174:A:G 15 42661174 A G 15:42953372 0.91033 126 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified reactive arthropathies 0.000179 8.9017 2.3758 STARD9 rs202074007 15:42674932:G:T 15 42674932 G T 15:42967130 0.979676 0.00261304 4 956 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis, primary 1.81e-05 0.7977 0.1861 Contraceptive management 0.0001185 19.782 5.139 STARD9 rs138121440 15:42682515:C:T 15 42682515 C T 15:42974713 0.989881 6844 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute and subacute iridocyclitis 0.000428 0.3858 0.1095 Acute peritonitis 0.001002 4.853 1.475 STARD9 rs775583719 15:42685477:A:AACCCCATT 15 42685477 A AACCCCATT 15:42977675 0.969007 182 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anankastic personality disorder 0.00129 8.9582 2.7832 STARD9 rs572122353 15:42689546:C:G 15 42689546 C G 15:42981744 0.958792 545 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Acute peritonitis 0.000595 3.1168 0.9076 STARD9 rs202077402 15:42689892:A:G 15 42689892 A G 15:42982090 0.957254 641 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving cognition, perception, emotional state and behaviour 0.000587 -0.4931 0.1435 STARD9 rs61732534 15:42693675:C:T 15 42693675 C T 15:42985873 0.987128 0.00139907 2 512 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute nephritic syndrome 2.67e-05 7.9683 1.8973 CDAN1 rs61746356 15:42726320:C:T 15 42726320 C T 15:43018518 0.979726 4987 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital dyserythropoietic anemia Chronic suppurative otitis media 0.000484 1.0705 0.3068 Hyperlipidaemia, other/unspecified 0.0008022 2.318 0.692 CDAN1 rs8023524 15:42728785:G:A 15 42728785 G A 15:43020983 0.998853 66029 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormalities of plasma proteins 0.000583 0.5586 0.1624 Non-rheumatic valve diseases 0.0001887 -0.107 0.029 CDAN1 rs61747153 15:42730963:C:T 15 42730963 C T 15:43023161 0.996125 256 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy 0.00394 2.2015 0.7636 CDAN1 rs139202766 15:42730965:G:C 15 42730965 G C 15:43023163 0.99122 1061 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital dyserythropoietic anemia STROKE 0.000331 -0.4868 0.1356 Tongue abnormality 0.0002565 301.041 82.35 CDAN1 rs12917189 15:42731284:T:C 15 42731284 T C 15:43023482 0.997266 70027 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rheumatoid arthritis 0.000151 0.0964 0.0254 Non-rheumatic valve diseases 0.0003307 -0.095 0.026 CDAN1 rs73410959 15:42736428:G:A 15 42736428 G A 15:43028626 0.986478 217 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Noninflammatory disorders of female genital tract 0.00198 -0.5871 0.1897 CDAN1 rs4265781 15:42736551:T:A 15 42736551 T A 15:43028749 0.998843 69664 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other/unspecified rheumatoid arthritis 0.000418 0.1508 0.0427 Non-rheumatic valve diseases 0.002536 -0.08 0.027 TTBK2 rs146279300 15:42746201:C:T 15 42746201 C T 15:43038399 0.996877 0.00220475 4 806 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Cerebral aneurysm, nonruptured 5.54e-06 3.1971 0.7037 Isolated proteinuria 0.0006308 120.398 35.225 TTBK2 rs34348991 15:42751995:G:A 15 42751995 G A 15:43044193 0.9723 496 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Essential (haemorrhagic) thrombocythaemia 0.000521 5.6538 1.6296 TTBK2 rs180791005 15:42752305:G:C 15 42752305 G C 15:43044503 0.99674 0.0017012 2 623 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fibrosis and chirrhosis of liver 7.85e-05 3.7172 0.9413 TTBK2 rs200124857 15:42775578:C:G 15 42775578 C G 15:43067776 0.893273 137 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specified and unspecified personality disorders 0.000353 4.4551 1.2469 TTBK2 rs56017612 15:42794687:T:C 15 42794687 T C 15:43086885 0.990282 223 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.0015 8.4211 2.6526 TTBK2 rs6493068 15:42878595:A:G 15 42878595 A G 15:43170793 0.99932 76173 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cystic kidney disease 0.000857 -0.2643 0.0793 Motor neuron disease (with DMD) 0.002424 0.424 0.14 UBR1 rs78948790 15:42958014:T:C 15 42958014 T C 15:43250212 0.985781 0.00612159 32 2217 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Benign neoplasm: Short bones of upper limb 9.66e-05 3.6455 0.935 Nonischemic cardiomyopathy 0.0008806 9.72 2.922 UBR1 rs3917223 15:42963993:T:C 15 42963993 T C 15:43256191 0.997998 25006 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Contusion of toe(s) without damage to nail 0.000111 0.804 0.208 Mixed disorders of conduct and emotions (more controls excluded) 0.0002008 2.561 0.689 UBR1 rs35069201 15:43024873:T:C 15 43024873 T C 15:43317071 0.989878 5167 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Ulcerative ileocolitis 0.0025 0.8306 0.2748 Other specified/unspecified spondylopathies 0.0009789 10.662 3.234 UBR1 rs139686505 15:43070800:C:A 15 43070800 C A 15:43362998 0.993462 4255 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary ataxia 0.000667 2.2872 0.6722 Other diseases of anus and rectum 0.0002277 2.402 0.652 EPB42 rs45495503 15:43206339:C:T 15 43206339 C T 15:43498537 0.988711 590 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Spherocytosis type 5 Corneal scars and opacities 0.00122 5.9081 1.8265 Frostbite 0.0005368 309.448 89.392 EPB42 rs116484797 15:43208280:C:T 15 43208280 C T 15:43500478 0.91543 56 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of iris and ciliary body 0.000447 30.893 8.8004 EPB42 rs149249456 15:43220737:C:T 15 43220737 C T 15:43512935 0.990439 3429 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified All influenza (not pneumonia) 0.000273 0.6286 0.1727 Enthesopathies of lower limb, excluding foot 1.072e-05 5.963 1.355 TGM5 rs35985214 15:43235621:T:C 15 43235621 T C 15:43527819 0.994407 5379 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Peeling skin syndrome Personality and behavioural disorders due to brain disease, damage and dysfunction 0.000271 1.7117 0.47 Benign neoplasm: Connective and other soft tissue of lower limb, including hip (other cancers excluded from controls) 0.0005566 14.583 4.225 TGM5 rs28756768 15:43239213:G:C 15 43239213 G C 15:43531411 0.998947 30247 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peeling skin syndrome Ulcer of lower limb, not elsewhere classified 0.000441 -0.2595 0.0738 Vasculitis limited to skin, not elsewhere classified 0.0015 1.4 0.441 TGM5 rs115677373 15:43252858:A:G 15 43252858 A G 15:43545056 0.995656 0.00120853 0 444 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Acute nephritic syndrome 1.1e-05 9.3837 2.1339 TGM5 rs112292549 15:43260151:C:A 15 43260151 C A 15:43552349 0.999571 1012 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inborn genetic diseases;Peeling skin syndrome;Peeling skin syndrome, acral type;not provided Status epilepticus 0.000211 3.1649 0.8541 Other eating disorders 0.0005927 133.028 38.728 TGM5 rs113463533 15:43260162:G:A 15 43260162 G A 15:43552360 0.992192 1084 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peeling skin syndrome;Peeling skin syndrome, acral type Status epilepticus 0.000356 2.8668 0.8028 Other eating disorders 0.0005927 133.026 38.727 TGM5 rs148913728 15:43260465:G:T 15 43260465 G T 15:43552663 0.998012 0.00250416 4 916 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis, primary 4.4e-05 0.7574 0.1854 Persons encountering health services in circumstances related to reproduction 0.001941 3.437 1.109 TUBGCP4 rs199517801 15:43401771:G:A 15 43401771 G A 15:43693969 0.960794 192 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Central retinal artery occlusion 0.000171 17.4488 4.6418 TP53BP1 rs141222111 15:43456764:G:A 15 43456764 G A 15:43748962 0.996883 1399 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dementia in other diseases classified elsewhere 0.0028 1.7142 0.5735 Other and unspecified injuries of shoulder and upper arm 0.0002412 294.311 80.161 TP53BP1 rs61751060 15:43477653:A:G 15 43477653 A G 15:43769851 0.980566 1396 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of puberty 0.000637 4.0628 1.1895 Allergic urticaria 0.000723 111.898 33.099 MAP1A rs202116613 15:43527046:C:G 15 43527046 C G 15:43819244 0.956253 399 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyarteritis nodosa and related conditions 0.000678 11.2032 3.2965 STRC rs74643365 15:43601535:C:T 15 43601535 C T 15:43893733 0.980252 21292 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diaphragmatic hernia 0.000107 0.1796 0.0464 Pleural plaque 0.0005687 0.964 0.28 STRC rs138763871 15:43601536:G:A 15 43601536 G A 15:43893734 0.99144 12570 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Brachial plexus disorders 0.000135 0.4822 0.1263 Entropion and trichiasis of eyelid 0.0002699 2.417 0.663 STRC rs2920780 15:43605301:T:C 15 43605301 T C 15:43897499 0.992566 15240 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Malignant neoplasm of corpus uteri 0.000369 0.4325 0.1214 Other and unspecified hydrocephalus 2.255e-06 9.118 1.928 CATSPER2 rs7169097 15:43632936:T:A 15 43632936 T A 15:43925134 0.991129 0.188281 13312 55860 pLoF unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postmenopausal osteoporosis with pathological fracture 3.61e-06 0.3979 0.0859 Postmenopausal osteoporosis with pathological fracture 3.621e-06 0.631 0.136 CATSPER2 rs8042868 15:43647444:C:T 15 43647444 C T 15:43939642 0.999114 14960 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Malignant neoplasm of corpus uteri 0.000586 0.41 0.1193 Other and unspecified hydrocephalus 1.648e-05 6.02 1.397 SPG11 rs201721414 15:44565975:C:T 15 44565975 C T 15:44858173 0.975149 231 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other enthesopathies 0.00128 1.4909 0.4629 SPG11 rs140824939 15:44572802:T:C 15 44572802 T C 15:44865000 0.974716 183 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Soft tissue disorders 0.000225 -0.7392 0.2004 SPG11 rs111347025 15:44615364:T:C 15 44615364 T C 15:44907562 0.992914 827 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 0.00143 2.8247 0.8856 SPG11 rs78183930 15:44626492:C:T 15 44626492 C T 15:44918690 0.996793 15695 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 11, autosomal recessive;not specified Bronchitis, not specified as acute or chronic 0.000498 0.336 0.0965 Mouth breathing 0.0004379 0.575 0.164 SPG11 rs79708848 15:44633542:A:C 15 44633542 A C 15:44925740 0.994318 6541 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia 11, autosomal recessive;not specified Other and unspecified corneal deformities and disorders 0.00044 1.1002 0.313 Type 1 diabetes with ophthalmic complications 0.0002399 2.275 0.619 SPG11 rs3759871 15:44651559:A:G 15 44651559 A G 15:44943757 0.999482 91442 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis of uterus 0.000927 0.1147 0.0346 Female genital prolapse 9.595e-05 0.063 0.016 SPG11 rs3759873 15:44651599:T:C 15 44651599 T C 15:44943797 0.997524 11665 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia 11, autosomal recessive;not specified Diseases of appendix 0.000141 -0.1346 0.0354 Entropion and trichiasis of eyelid 0.0008673 2.329 0.699 SPG11 rs77697105 15:44651839:C:T 15 44651839 C T 15:44944037 0.99082 15299 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 11, autosomal recessive;not specified Bronchitis, not specified as acute or chronic 0.00061 0.3361 0.0981 Mouth breathing 0.0001122 0.662 0.171 SPG11 rs80338868 15:44657156:C:T 15 44657156 C T 15:44949354 0.960214 0.00606443 12 2216 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 11, autosomal recessive;not provided;not specified Tubulo-interstitial nephritis, not spesified as acute or chronic 1.5e-05 1.5973 0.369 Stenosis and insufficiency of lacrimal passages 4.395e-06 39.386 8.578 DUOX2 rs201229193 15:45094160:T:C 15 45094160 T C 15:45386358 0.964208 627 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unsepcified mononeuropathies, also in other diseases 0.000449 4.4186 1.2591 DUOX2 rs269868 15:45099877:G:A 15 45099877 G A 15:45392075 0.994095 24264 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of optic nerve, not elsewhere classified 0.000586 -0.7187 0.2091 Iron deficiency anaemia 0.001048 -0.074 0.022 DUOX2 rs76343591 15:45100079:C:T 15 45100079 C T 15:45392277 0.98841 2115 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other articular cartilage disorders 0.00113 1.9023 0.5842 Sicca syndrome [Sjogren] 0.0001338 24.106 6.311 DUOX2 rs201263758 15:45100107:C:T 15 45100107 C T 15:45392305 0.991222 193 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Unspecified dementia 0.000112 4.5791 1.1857 DUOX2 rs61730030 15:45100816:G:C 15 45100816 G C 15:45393014 0.993558 19467 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Lack of expected normal physiological development 0.000691 0.6735 0.1985 Superficial injury of abdomen, lower back and pelvis 0.001378 0.787 0.246 DUOX2 rs530719719 15:45101227:TGAAC:T 15 45101227 TGAAC T 15:45393425 0.976979 3531 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital hypothyroidism;Inborn genetic diseases;Nongoitrous Euthyroid Hyperthyrotropinemia;not provided Lung transplantation 0.000576 0.8136 0.2363 Otherdisorders of bone 9.944e-05 5.574 1.432 DUOX2 rs138353181 15:45105795:C:T 15 45105795 C T 15:45397993 0.955671 1842 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Other malignant neoplasms of skin (=non-melanoma skin cancer) 0.000157 0.4722 0.1249 Acute peritonitis 0.002769 32.509 10.864 DUOX2 rs113400262 15:45106171:C:T 15 45106171 C T 15:45398369 0.995137 19598 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital hypothyroidism;not specified Lack of expected normal physiological development 0.000306 0.7126 0.1974 Superficial injury of abdomen, lower back and pelvis 0.001526 0.772 0.244 DUOX2 rs57659670 15:45106240:T:C 15 45106240 T C 15:45398438 0.994814 23537 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital hypothyroidism;not specified Tobacco use 0.00083 0.5871 0.1756 AION (anterior ischemic optic neuropathy) 0.0009437 2.356 0.712 DUOX2 rs139161034 15:45106552:C:T 15 45106552 C T 15:45398750 0.986902 1012 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Thyroid dyshormonogenesis 6;not specified Arthrosis 0.000251 -0.3688 0.1007 0.000119 1.156 0.3 DUOX2 rs151261408 15:45110685:G:C 15 45110685 G C 15:45402883 0.89983 0.00551188 8 2017 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Pollen allergy 9.23e-05 0.8497 0.2173 Acute pharyngitis 0.00211 8.344 2.714 DUOX2 rs2001616 15:45111868:G:A 15 45111868 G A 15:45404066 0.977782 27265 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter AION (anterior ischemic optic neuropathy) 0.000586 -0.6801 0.1978 Anaemias 0.001315 -0.061 0.019 GATM rs1288775 15:45369480:T:A 15 45369480 T A 15:45661678 0.999778 78655 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Colon, unspecified (other cancers excluded from controls) 0.000371 -0.113 0.0317 Other surgical follow-up care 0.0003734 0.378 0.106 SLC24A5 rs1426654 15:48134287:A:G 15 48134287 A G 15:48426484 0.969554 0.0113831 58 4124 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Skin/hair/eye pigmentation, variation in, 4 Actinic keratosis 2.7e-06 -0.6044 0.1288 Lateral epicondylitis 0.001531 4.022 1.269 SLC12A1 rs34819316 15:48208066:G:A 15 48208066 G A 15:48500263 0.920387 0.00212037 0 779 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of liver 8.61e-05 1.7082 0.435 SLC12A1 rs137893258 15:48267661:C:T 15 48267661 C T 15:48559858 0.960809 0.000969003 2 354 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrophic scar 9.73e-05 5.0502 1.2958 FBN1 rs202240409 15:48415623:G:A 15 48415623 G A 15:48707820 0.995242 319 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Foreign body in ear 0.00011 11.7945 3.0503 Dorsopathies 0 2.846 0 FBN1 rs199522781 15:48421596:C:T 15 48421596 C T 15:48713793 0.900738 146 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Portal vein thrombosis 0.00101 21.6941 6.5997 FBN1 rs140598 15:48487333:G:C 15 48487333 G C 15:48779530 0.990645 1260 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;FNB1 POLYMORPHISM;Marfan syndrome;Marfan syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysm and aortic dissection;not provided;not specified Dislocation, sprain and strain of joints and ligaments at neck level 0.000199 1.2161 0.3269 Benign neoplasm: Colon, unspecified 0.001517 8.245 2.6 FBN1 rs200381100 15:48489856:A:G 15 48489856 A G 15:48782053 0.924975 2160 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Marfan syndrome;not specified Aortic aneurysm 0.000717 0.7611 0.225 Sixth [abducent] nerve palsy 1.808e-05 63.018 14.698 FBN1 rs111801777 15:48489875:T:C 15 48489875 T C 15:48782072 0.942573 0.000566159 0 208 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Campylobacter enteritis 6.76e-05 12.2019 3.0622 FBN1 rs112287730 15:48489977:C:T 15 48489977 C T 15:48782174 0.968275 813 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Follicular lymphoma 0.000862 3.1555 0.947 CEP152 rs74553953 15:48755935:G:C 15 48755935 G C 15:49048132 0.992756 1353 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary Microcephaly, Recessive;Seckel syndrome;not provided;not specified Focal brain injury 0.00119 1.4536 0.4485 0 5.312 0 CEP152 rs201342438 15:48756370:A:G 15 48756370 A G 15:49048567 0.974955 0.000982612 0 361 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Scleritis and episcleritis 8.55e-05 5.0532 1.2863 CEP152 rs16961560 15:48756508:G:C 15 48756508 G C 15:49048705 0.980415 43347 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tubulo-interstitial nephritis, not spesified as acute or chronic 0.000191 0.2672 0.0716 Benign neoplasm: Ascending colon 0.0006889 0.428 0.126 CEP152 rs2289178 15:48762575:C:A 15 48762575 C A 15:49054772 0.98732 2083 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary Microcephaly, Recessive;Seckel syndrome;not specified Dislocation, sprain and strain of joints and ligaments at neck level 0.00015 0.9375 0.2473 Visual field defects 0.0004173 15.399 4.364 CEP152 rs188101277 15:48797497:C:T 15 48797497 C T 15:49089694 0.977599 1232 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary Microcephaly, Recessive;Seckel syndrome;not provided;not specified Other medical care 0.000857 0.8596 0.2578 Alcohol abuse, main dg 0.0006671 11.003 3.234 CEP152 rs2289181 15:48797978:G:A 15 48797978 G A 15:49090175 0.98067 0.00804599 26 2930 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary Microcephaly, Recessive;Seckel syndrome;not specified Fracture at wrist and hand level 3.74e-05 0.5191 0.1259 Bronchitis, not specified as acute or chronic 0.001291 8.973 2.788 CEP152 rs200227733 15:48798006:C:T 15 48798006 C T 15:49090203 0.972758 402 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Localized swelling, mass and lump of skin and subcutaneous tissue 0.000122 1.5022 0.391 HDC rs145672878 15:50242769:T:C 15 50242769 T C 15:50534966 0.900682 310 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dizziness and giddiness 0.000219 0.9458 0.2559 USP8 rs147742292 15:50465088:A:G 15 50465088 A G 15:50757285 0.994454 3791 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary spastic paraplegia Skin changes due to chronic exposure to nonionizing radiation 0.00119 0.4067 0.1255 Postpartum haemorrhage 2.048e-08 17.553 3.13 USP8 rs61751062 15:50471748:T:A 15 50471748 T A 15:50763945 0.98575 1706 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary spastic paraplegia Helminthiases 0.000244 3.5656 0.9718 Lagophthalmos 0.0003434 210.686 58.849 USP8 rs61733869 15:50477323:G:A 15 50477323 G A 15:50769520 0.99596 7122 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary spastic paraplegia Other or ill-defined heart diseases 0.00136 -0.7118 0.2222 Use of eye-antiallergens (taken as indicator of allergic/atopic conjunctivitis) 0.0008062 1.092 0.326 USP8 rs3743044 15:50481590:A:G 15 50481590 A G 15:50773787 0.999875 0.0328563 392 11679 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary spastic paraplegia Gonarthrosis 3.33e-05 0.1498 0.0361 Other retinal artery occlusion 0.0005021 6.161 1.771 TRPM7 rs8042919 15:50586433:G:A 15 50586433 G A 15:50878630 0.998924 0.0588642 1364 20262 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to Gonarthrosis 8.23e-05 0.1075 0.0273 Other disorders of patella 0.0001652 0.663 0.176 TRPM7 rs55681028 15:50605008:A:T 15 50605008 A T 15:50897205 0.990715 0.00398489 2 1462 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of hip and thigh 9.84e-05 3.1827 0.8172 AP4E1 rs2306331 15:50925164:T:C 15 50925164 T C 15:51217361 0.99995 90609 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.000546 -0.4727 0.1367 Other and unspecified myopathies 0.0001384 0.17 0.045 AP4E1 rs148817957 15:50948119:A:C 15 50948119 A C 15:51240316 0.998078 256 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypokalaemia 0.000112 4.7613 1.2324 TNFAIP8L3 rs150980610 15:51105005:C:G 15 51105005 C G 15:51397202 0.980645 2098 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal scars and opacities 0.000184 3.2434 0.8671 Other respiratory disorders and diseases 0.0003527 14.561 4.075 CYP19A1 rs700519 15:51215771:G:A 15 51215771 G A 15:51507968 0.999858 15265 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aromatase deficiency;not specified General examination and investigation of persons without complaint and reported diagnosis 0.00138 -0.1026 0.0321 Motor disorders (more controls excluded) 0.001341 3.763 1.173 CYP19A1 rs28757184 15:51222375:G:A 15 51222375 G A 15:51514572 0.993168 5078 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aromatase deficiency Alcohol related diseases, tilastokeskus definition, death only 0.000473 0.776 0.222 Other facial nerve disorders 0.0002046 22.427 6.04 CYP19A1 rs201842322 15:51222502:G:A 15 51222502 G A 15:51514699 0.997396 1456 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries of lower limb 0.000167 1.3264 0.3524 Colitis, primary sclerosing, strict definition 0.0003727 199.408 56.034 GLDN rs186935606 15:51341953:C:T 15 51341953 C T 15:51634150 0.975933 0.00983157 42 3570 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Intracranial trauma 5.6e-06 -0.3481 0.0767 Neuromuscular dysfuntion of bladder 0.001023 10.236 3.117 DMXL2 rs146972389 15:51481060:C:T 15 51481060 C T 15:51773257 0.993318 670 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspefcified behauvioural syndromes associated with physiological disturbances and physical factors +Phsyiological and behauvioural factors associated with disorders of diseases classified elsewhere 5e-04 5.5555 1.5961 Pulmonary heart disease 0.000621 11.255 3.289 DMXL2 rs148062616 15:51481130:A:T 15 51481130 A T 15:51773327 0.993716 6809 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Family history of certain disabilities and chronic diseases leading to disablement 0.000186 1.1187 0.2993 Alogoneurodystrophy 0.0001486 9.12 2.404 DMXL2 rs35349640 15:51498782:T:C 15 51498782 T C 15:51790979 0.984102 2126 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adult respiratory distress syndrome 0.000289 4.2641 1.1762 Disorders of optic nerve and visual pathways 0.0001797 21.799 5.819 DMXL2 rs143033674 15:51499037:G:A 15 51499037 G A 15:51791234 0.989418 0.000775747 2 283 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Panic disorder 5.98e-06 3.3481 0.7395 DMXL2 rs75378828 15:51622523:G:C 15 51622523 G C 15:51914720 0.991793 5754 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified injuries of lower leg 0.000667 -0.8222 0.2416 0.0001082 -3.708 0.958 GNB5 rs41277710 15:52184655:C:T 15 52184655 C T 15:52476852 0.994395 558 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hearing loss 0.000119 1.376 0.3576 MYO5A rs199675131 15:52314142:G:A 15 52314142 G A 15:52606339 0.994904 2579 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other inflammation of eyelid 0.00159 0.8638 0.2735 Lichen sclerosus et atrophicus 0.0006454 11.909 3.491 MYO5A rs61731219 15:52343197:T:A 15 52343197 T A 15:52635394 0.994029 31863 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nystagmus and other irregular eye movements 0.000191 0.8735 0.2341 Primary angle-closure glaucoma 0.0001502 1.051 0.277 MYO5A rs1058219 15:52351367:G:A 15 52351367 G A 15:52643564 0.997281 41625 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fistulae involving female genital tract 0.000392 0.6058 0.1709 Fracture of rib(s), sternum and thoracic spine 0.0001581 0.268 0.071 MYO5A rs16964944 15:52384195:A:G 15 52384195 A G 15:52676392 0.973407 310 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Use of antiglaucoma preparations and miotics 0.000474 3.5629 1.0195 WDR72 rs16966320 15:53615709:A:C 15 53615709 A C 15:53907906 0.999947 18531 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amelogenesis Imperfecta, Recessive Macular pucker 0.000369 -0.3824 0.1074 Coxarthrosis, primary, with hip surgery 0.0001373 0.591 0.155 WDR72 rs17730281 15:53615751:G:A 15 53615751 G A 15:53907948 0.999958 70221 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Degenerative macular diseases 0.00012 -0.1728 0.0449 Other CVD 0.0001394 -0.189 0.049 WDR72 rs60404950 15:53615865:T:C 15 53615865 T C 15:53908062 0.999336 18366 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amelogenesis Imperfecta, Recessive Macular pucker 0.000323 -0.3879 0.1079 Rotator cuff syndrome 0.0001188 0.418 0.109 WDR72 rs551225 15:53710894:G:A 15 53710894 G A 15:54003091 0.999741 83822 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other encephalitis 0.000216 -0.3461 0.0936 Trochanteric bursitis 0.0009971 0.143 0.044 DYX1C1 rs77641439 15:55430674:G:C 15 55430674 G C 15:55722872 0.996158 20811 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: other/unspecified salivary gland (other cancers excluded from controls) 0.000185 0.6653 0.1779 Benign neoplasm: Vulva (other cancers excluded from controls) 1.401e-05 3.454 0.795 DYX1C1 rs57809907 15:55430684:C:A 15 55430684 C A 15:55722882 0.999166 28175 LC unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyslexia 1;not specified Osteopathies and chondropathies 0.000923 -0.1033 0.0312 Other arterial embolism and thrombosis 6.752e-05 1.903 0.478 DYX1C1 rs17819126 15:55497712:C:T 15 55497712 C T 15:55789910 0.986454 0.0564771 1266 19483 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Glaucoma suspect 2.53e-05 -0.2301 0.0546 Tinnitus 0.0004008 0.63 0.178 DYX1C1 rs143493699 15:55498326:G:A 15 55498326 G A 15:55790524 0.938679 200 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.000147 0.9696 0.2554 PRTG rs149494002 15:55672580:C:G 15 55672580 C G 15:55964778 0.992556 0.0146984 88 5312 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 9.4e-05 0.8994 0.2303 Intracerebral haemmorrhage 0.0001506 4.999 1.319 NEDD4 rs140499972 15:55834252:T:C 15 55834252 T C 15:56126450 0.967116 1273 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of lip (other cancers excluded from controls) 0.000452 4.442 1.2664 Dissection of aorta 0.0005483 335.405 97.051 NEDD4 rs61754989 15:55852431:G:A 15 55852431 G A 15:56144629 0.967983 2379 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis 0.00122 0.3911 0.1209 Dermatitis herpetiformis 0.001532 57.508 18.149 NEDD4 rs200302839 15:55869581:C:G 15 55869581 C G 15:56161779 0.964066 0.00774658 30 2816 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinal vascular disorders 1.86e-05 1.0714 0.2503 Chronic lymphocytic leukaemia 0.001464 61.919 19.461 NEDD4 rs111308798 15:55916624:C:G 15 55916624 C G 15:56208822 0.989237 1293 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension 0.000725 0.2834 0.0839 Other joint disorders 0 1.865 0 TCF12 rs12442879 15:57232784:G:A 15 57232784 G A 15:57524982 0.999045 14008 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Statin medication 0.000456 0.087 0.0248 Communicating hydrocephalus 4.923e-05 7.171 1.766 POLR2M rs113738650 15:57714656:G:A 15 57714656 G A 15:58006854 0.981836 156 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cystic kidney disease 0.000174 10.1155 2.6947 LIPC rs6078 15:58541794:G:A 15 58541794 G A 15:58833993 0.981893 19064 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hepatic lipase deficiency Malaise and fatigue 0.000825 -0.1501 0.0449 Type 1 diabetes with peripheral circulatory complications 0.0001683 2.708 0.72 LIPC rs6083 15:58545811:A:G 15 58545811 A G 15:58838010 0.992651 91711 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kyphosis 0.000834 -0.4649 0.1391 Ovarian cyst 0.0002783 -0.053 0.015 LIPC rs121912502 15:58548387:C:T 15 58548387 C T 15:58840586 0.952723 264 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Viral pneumonia (unknown virus, not influenza) 0.000101 8.2784 2.129 LIPC rs3829462 15:58560880:C:A 15 58560880 C A 15:58853079 0.999232 17256 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis 0.000768 0.16 0.0476 Communicating hydrocephalus 0.001112 -0.448 0.137 LIPC rs113298164 15:58563549:C:T 15 58563549 C T 15:58855748 0.99846 5839 missense_variant both Pathogenic/Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Hepatic lipase deficiency Diverticular disease of intestine 0.000194 -0.2267 0.0608 Invasive ventilation 0.0008629 11.435 3.432 CCNB2 rs35033821 15:59107670:G:A 15 59107670 G A 15:59399869 0.991279 1523 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other symptoms and signs involving the digestive system and abdomen 0.000613 0.9015 0.2632 Allergic urticaria 0.002349 38.262 12.577 MYO1E rs139049058 15:59205401:G:T 15 59205401 G T 15:59497600 0.97261 452 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Viral hepatitis 0.000656 3.0829 0.9047 Hypertensive diseases 0 2.181 0 MYO1E rs140447165 15:59205423:G:C 15 59205423 G C 15:59497622 0.974049 6406 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Coronary atherosclerosis 0.000245 -0.1938 0.0528 0.002633 -0.741 0.246 GCNT3 rs139614046 15:59618689:C:T 15 59618689 C T 15:59910888 0.992461 3606 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicalgia 0.000177 0.5364 0.143 Other specified congenital malformation syndromes affecting multiple systems 0.001689 53.701 17.101 ICE2 rs141469235 15:60466706:T:C 15 60466706 T C 15:60758905 0.905952 193 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy examination and test 0.000106 2.3359 0.6026 Congenital malformations of aortic and mitral valves 0.0001918 343.308 92.051 VPS13C rs115819951 15:61854543:T:C 15 61854543 T C 15:62146742 0.977703 0.00217209 8 790 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of middle ear and respiratory system 6.88e-06 3.2836 0.7301 Acute and subacute iridocyclitis 0.0002662 15.557 4.267 VPS13C rs115741196 15:61882694:G:C 15 61882694 G C 15:62174893 0.899887 202 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiac murmurs and other cardiac sounds 0.000146 5.5952 1.4731 VPS13C rs115869241 15:61911844:G:A 15 61911844 G A 15:62204043 0.985431 0.00162771 0 598 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behavioural disorders 8.5e-05 6.0988 1.552 VPS13C rs72747885 15:61915712:A:G 15 61915712 A G 15:62207911 0.986734 1782 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic pulmonary fibrosis (attempt to specificity) 0.000698 1.4836 0.4376 VPS13C rs139993005 15:61920571:T:C 15 61920571 T C 15:62212770 0.956987 693 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of labour and delivery 0.000371 0.5442 0.1529 Inflammatory diseases of prostate (prostatitis) 0.0001243 10.873 2.833 VPS13C rs75341202 15:61927138:G:A 15 61927138 G A 15:62219337 0.992076 2808 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign mammary dysplasia 0.000717 0.6017 0.1778 Personality and behavioural disorders due to brain disease, damage and dysfunction 0.00252 37.435 12.392 VPS13C rs114089496 15:61945803:G:A 15 61945803 G A 15:62238002 0.942859 0.00108605 0 399 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified haematuria 3.1e-05 1.5686 0.3765 VPS13C rs140338178 15:61954471:T:G 15 61954471 T G 15:62246670 0.990533 1462 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of urinary organs 0.000642 0.9793 0.2869 0.0003924 1.602 0.452 VPS13C rs146460562 15:61969413:T:C 15 61969413 T C 15:62261612 0.970838 0.00532135 26 1929 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma/COPD (KELA code 203) 3.22e-05 0.378 0.0909 Congenital malformations of the musculoskeletal system, not elsewhere classified 0.001074 77.621 23.735 VPS13C rs143639809 15:61991096:T:C 15 61991096 T C 15:62283295 0.99807 0.007997 34 2904 pLoF recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations of the digestive system 4.56e-05 1.929 0.4731 Benign neoplasm: Conjunctiva (other cancers excluded from controls) 8.945e-05 32.078 8.188 VPS13C rs150832196 15:62023783:T:C 15 62023783 T C 15:62315982 0.998648 2598 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dependent personality disorder 0.00191 1.7097 0.5509 Crushing injury of wrist and hand 0.0008271 100.692 30.115 TLN2 rs147117916 15:62763673:C:T 15 62763673 C T 15:63055872 0.9942 5069 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (Early onset) (more controls excluded) 0.0012 0.8869 0.2739 Lagophthalmos 9.003e-05 32.968 8.419 TLN2 rs138463845 15:62819579:G:A 15 62819579 G A 15:63111778 0.988074 623 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mucosal proctocolitis 0.000295 1.9099 0.5276 TPM1 rs144045691 15:63071092:A:G 15 63071092 A G 15:63363291 0.991837 2255 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary familial hypertrophic cardiomyopathy;not specified Hypertension 0.000124 -0.2434 0.0634 Other neurotic disorders 8.526e-05 30.627 7.795 CA12 rs148438059 15:63327234:C:T 15 63327234 C T 15:63619433 0.843201 56 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Ulcer of oesophagus 0.000237 14.7829 4.0215 HERC1 rs200742146 15:63643504:C:T 15 63643504 C T 15:63935703 0.976405 0.0012548 4 457 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of endocrine gland 4.28e-05 3.6046 0.8809 Other/unspecified seropositiverheumatoid arthritis 0.00255 35.088 11.629 HERC1 rs80032429 15:63658650:C:A 15 63658650 C A 15:63950849 0.979929 0.00148617 4 542 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility 1.74e-05 1.3457 0.3132 Other/unspecified seropositiverheumatoid arthritis 0.00255 35.088 11.629 HERC1 rs112791137 15:63678139:C:T 15 63678139 C T 15:63970338 0.992327 664 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Cranial nerves (other cancers excluded from controls) 0.000351 4.6862 1.311 HERC1 rs80203202 15:63725486:C:T 15 63725486 C T 15:64017685 0.998275 0.000745806 0 274 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other pleural conditions 7.11e-05 5.1766 1.3031 DAPK2 rs117564318 15:63983644:C:T 15 63983644 C T 15:64275843 0.975819 4288 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified mononeuropathies of upper limb 0.00119 1.2382 0.382 Postmenopausal bleeding 0.0007988 2.062 0.615 DAPK2 rs145090475 15:63983668:C:T 15 63983668 C T 15:64275867 0.929239 580 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of glucose regulation and pancreatic internal secretion 0.000132 2.545 0.6656 ZNF609 rs151216141 15:64499843:G:T 15 64499843 G T 15:64792042 0.981252 694 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Memory loss 0.00138 1.8317 0.5727 Complications of cardiac and vascular prosthetic devices, implants and grafts 0.0002335 284.252 77.248 MTFMT rs188461284 15:65020251:A:T 15 65020251 A T 15:65312589 0.997188 8002 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Traumatic subarachnoid haemorrhage 0.000931 1.0207 0.3083 Hereditary retinal dystrophy 1.944e-05 18.15 4.249 MTFMT rs188718836 15:65029442:A:T 15 65029442 A T 15:65321780 0.974374 5249 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria Combined oxidative phosphorylation deficiency 15;not provided Other disorders of eye and adnexa 0.0011 0.5248 0.1608 Other skin changes 3.446e-05 7.572 1.828 MTFMT rs199599204 15:65029598:G:A 15 65029598 G A 15:65321936 0.961641 4657 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Disorders of muscles 0.000601 0.671 0.1956 Intussusception 0.0001962 22.286 5.985 MTFMT rs2946655 15:65029600:A:G 15 65029600 A G 15:65321938 0.984087 25177 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Other disorders of thyroid 0.000464 0.8469 0.2419 Blepharochalasis 0.0003843 0.465 0.131 KBTBD13 rs766815771 15:65076822:C:T 15 65076822 C T 15:65369160 0.967202 573 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nemaline Myopathy, Dominant Acute upper respiratory infections 0.000895 0.3941 0.1186 Complications of the puerperium, not elsewhere classified 0.002334 38.137 12.528 KBTBD13 rs138484272 15:65076904:G:A 15 65076904 G A 15:65369242 0.963635 252 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain in joint 0.000617 1.0777 0.3148 KBTBD13 rs202004658 15:65077003:A:T 15 65077003 A T 15:65369341 0.977355 2442 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nemaline Myopathy, Dominant;Nemaline myopathy 6;not specified Melanocytic naevi of upper limb, including shoulder 0.000222 2.8166 0.7627 Secondary malignant neoplasm of other and unspecified sites 0.001112 76.609 23.496 KBTBD13 rs2919358 15:65077057:C:T 15 65077057 C T 15:65369395 0.995335 0.393391 57212 87315 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of the respiratory system 9.6e-05 -0.4723 0.1211 Unspecified lump in breast 0.0001369 0.122 0.032 KBTBD13 rs567309902 15:65077146:G:A 15 65077146 G A 15:65369484 0.824633 153 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of middle ear and mastoid 0.000171 1.5839 0.4214 KBTBD13 rs201466173 15:65077176:G:A 15 65077176 G A 15:65369514 0.863015 182 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services for specific procedures, not carried out 0.00022 9.7667 2.643 KBTBD13 rs200549195 15:65077557:C:T 15 65077557 C T 15:65369895 0.875908 0.000193256 0 71 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of breast, intraductal 8.24e-05 14.2227 3.6122 KBTBD13 rs146917406 15:65077609:G:A 15 65077609 G A 15:65369947 0.958278 7223 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nemaline Myopathy, Dominant;Nemaline myopathy 6;not specified Counselling related to sexual attitude, behaviour and orientation 0.00151 1.4394 0.4537 Chorioretinal inflammation 0.001665 8.254 2.625 CILP rs2073711 15:65201874:A:G 15 65201874 A G 15:65494212 0.993971 89468 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Habitual aborter 0.000201 -0.4032 0.1084 Parkinson's disease 0.0003542 0.098 0.027 SLC24A1 rs3743171 15:65624189:A:T 15 65624189 A T 15:65916527 0.999726 71462 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute appendicitis, no complications 0.000303 -0.0615 0.017 Ulcerative proctitis 0.001703 0.246 0.078 SLC24A1 rs34363823 15:65625011:G:C 15 65625011 G C 15:65917349 0.97695 551 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Stationary Night Blindness, Recessive;not specified Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.0018 1.5772 0.5053 Synovial hypertrophy, not elsewhere classified 0.0005374 156.205 45.128 SLC24A1 rs35571449 15:65625017:T:G 15 65625017 T G 15:65917355 0.997882 10580 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Stationary Night Blindness, Recessive;not specified Lesion of radial nerve 0.00132 0.6606 0.2057 Other specified disorders of external ear 0.0007767 5.267 1.567 SLC24A1 rs191146484 15:65645642:C:T 15 65645642 C T 15:65937980 0.996069 4517 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Other obstructed labour 0.0015 0.9252 0.2915 Benign neoplasm: Long bones of lower limb 0.0007187 12.603 3.726 SLC24A1 rs146253044 15:65650913:T:C 15 65650913 T C 15:65943251 0.963214 303 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertensive Renal Disease 0.000178 7.0881 1.8907 SLC24A1 rs12148277 15:65654797:C:A 15 65654797 C A 15:65947135 0.97704 19429 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Manic episode 0.000421 0.5192 0.1472 Pneumonia due to other infectious organisms, not elsewhere classified 0.0001044 3.091 0.797 SLC24A1 rs62014379 15:65654811:T:G 15 65654811 T G 15:65947149 0.997815 10551 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Lesion of radial nerve 0.00125 0.6654 0.2061 Other specified disorders of external ear 0.0007706 5.278 1.569 SMAD6 rs188799901 15:66703319:G:A 15 66703319 G A 15:66995657 0.933023 5320 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Loeys-Dietz syndrome 3 Somnolence, stupor and coma 0.000295 1.0461 0.289 Unstable angina pectoris 0.0005325 2.304 0.665 SMAD3 rs1065080 15:67164997:A:G 15 67164997 A G 15:67457335 0.996745 44161 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Follow-up care involving plastic surgery 0.00027 0.3242 0.089 Follow-up care involving plastic surgery 0.0005935 0.172 0.05 SMAD3 rs35874463 15:67165360:A:G 15 67165360 A G 15:67457698 0.986191 14096 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Loeys-Dietz syndrome;Thoracic aortic aneurysm and aortic dissection;not provided;not specified IBD patients in KELA-register 0.000494 0.2387 0.0685 Other puerperal infections 0.0004693 2.434 0.696 AAGAB rs7173826 15:67236036:T:G 15 67236036 T G 15:67528374 0.997802 0.351661 45418 83778 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Any gastric operation 2.3e-05 -0.0328 0.0078 0.0003745 -0.029 0.008 AAGAB rs186662479 15:67236440:A:T 15 67236440 A T 15:67528778 0.990438 2357 start_lost dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of rectovaginal septum and vagina 0.000739 0.9755 0.2891 Postzoster neuralgia 0.0006455 123.216 36.115 IQCH rs754328443 15:67388870:T:C 15 67388870 T C 15:67681208 0.99012 803 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Papulosquamous disorders 0.000295 0.8371 0.2313 CALML4 rs772664987 15:68194022:TC:T 15 68194022 TC T 15:68486360 0.911467 205 LC unknown not provided not_provided no assertion provided none Other inflammation of vagina/vulva 0.00229 7.1578 2.3468 CLN6 rs143578698 15:68208153:C:G 15 68208153 C G 15:68500491 0.960844 1031 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Adult neuronal ceroid lipofuscinosis;Ceroid lipofuscinosis neuronal 6;Neuronal ceroid lipofuscinosis;Seizures;not provided;not specified Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.000613 4.1267 1.2046 Other extrapyramidal and movement disorders+ in other diseases 0.000761 106.303 31.576 CLN6 rs149692285 15:68211667:G:A 15 68211667 G A 15:68504005 0.982483 8076 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ceroid lipofuscinosis neuronal 6;Neuronal ceroid lipofuscinosis;not provided;not specified Pervasive developmental disorders excl. Autism + Asperger 0.00049 1.8285 0.5245 Other endocrine disorders 2.815e-05 7.844 1.873 CLN6 rs112239768 15:68229551:C:T 15 68229551 C T 15:68521889 0.959449 2050 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ceroid lipofuscinosis neuronal 6;Neuronal ceroid lipofuscinosis;Seizures;not provided;not specified Vulvovaginal ulceration/inflammation in other diseases 0.000967 1.5887 0.4814 Adhesive middle ear disease 0.0005848 120.959 35.177 ITGA11 rs61729760 15:68320339:G:A 15 68320339 G A 15:68612677 0.98703 286 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Haemorrhage in early pregnancy 0.00204 1.8349 0.5949 UACA rs78821209 15:70669310:T:G 15 70669310 T G 15:70961649 0.992013 685 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other lesions of median nerve 0.00014 4.6207 1.2137 Schizotypal disorder 0.0004791 154.524 44.249 MYO9A rs142345927 15:71830301:C:T 15 71830301 C T 15:72122642 0.934421 154 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disturbance of activity and attention 0.000553 7.1153 2.0601 MYO9A rs201969917 15:71898845:G:A 15 71898845 G A 15:72191186 0.991109 0.00287979 4 1054 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified necrotizing vasculopathies 5.59e-06 8.2447 1.8155 MYO9A rs147624856 15:71994482:T:A 15 71994482 T A 15:72286823 0.963035 161 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of thorax 0.000383 13.6448 3.8418 MYO9A rs2929516 15:72046082:G:A 15 72046082 G A 15:72338423 0.996434 581 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of breast 0.0018 8.1065 2.5974 Gonarthrosis,primary 0 2.858 0 GRAMD2 rs556977354 15:72163644:ACTGT:A 15 72163644 ACTGT A 15:72455985 0.994038 784 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (multiple infarctations) 0.00115 4.2473 1.3067 Disorders of lens 6.17e-06 2.582 0.571 HEXA rs1800431 15:72346551:T:C 15 72346551 T C 15:72638892 0.998702 598 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on diagnostic imaging of breast 0.00193 -7.8966 2.5466 Abnormal findings on diagnostic imaging of breast 0.001744 -4.007 1.28 HEXA rs1184375573 15:72349147:TAAG:T 15 72349147 TAAG T 15:72641488 0.894423 141 inframe_indel recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Trigger finger 0.000309 4.715 1.3071 HEXA rs121907970 15:72350584:G:A 15 72350584 G A 15:72642925 0.939427 235 missense_variant recessive Conflicting interpretations of pathogenicity, other Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Prepatellar bursitis 0.00136 5.6572 1.766 BBS4 rs151164191 15:72695189:C:T 15 72695189 C T 15:72987530 0.992049 3176 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bardet-Biedl syndrome Faecal incontinence 0.000813 0.9079 0.2711 Melanocytic naevi of lower limb, including hip (other cancers excluded from controls) 3.733e-05 46.413 11.256 BBS4 rs75295839 15:72709760:A:G 15 72709760 A G 15:73002101 0.996365 1349 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bardet-Biedl syndrome;Bardet-Biedl syndrome 1;not provided;not specified malignant neoplasm of male genital organs 0.000389 0.6083 0.1715 Ulcerative proctitis 0.001936 46.472 14.991 BBS4 rs2277598 15:72735137:T:C 15 72735137 T C 15:73027478 0.999976 0.66279 161402 82099 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of the respiratory system 5.24e-05 0.029 0.0072 Other diseases of upper respiratory tract 1.194e-05 0.027 0.006 HCN4 rs200507617 15:73322516:C:G 15 73322516 C G 15:73614857 0.994441 0.00449933 10 1643 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Brugada syndrome 8;Cardiovascular phenotype;not provided;not specified Peptic ulcer 4.48e-05 5.7061 1.3982 Vitamin deficiency 0.002025 45.567 14.763 HCN4 rs140402087 15:73322743:G:A 15 73322743 G A 15:73615084 0.958482 2061 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brugada syndrome 8;Cardiovascular phenotype;not specified Specific personality disorders 0.00074 0.5339 0.1582 Additional codes for the location of defect, injury or illness 0.001571 52.168 16.502 HCN4 rs142735148 15:73322756:T:C 15 73322756 T C 15:73615097 0.984427 1155 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brugada syndrome 8;Cardiovascular phenotype;not specified Injuries to the abdomen, lower back, lumbar spine and pelvis 0.000727 0.6726 0.199 Other diseases of upper respiratory tract 0 3.636 0 HCN4 rs199798661 15:73323115:G:A 15 73323115 G A 15:73615456 0.889557 870 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Brugada syndrome 8 Disturbances of skin sensation 0.00042 1.1447 0.3245 Other intracranial haemorrhages 6.346e-05 501.352 125.351 HCN4 rs148398509 15:73323445:G:C 15 73323445 G C 15:73615786 0.952534 2203 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Brugada syndrome 8;Cardiovascular phenotype;Left ventricular noncompaction;Sick sinus syndrome 2, autosomal dominant;not provided;not specified Blepharochalasis 0.000381 0.6168 0.1736 Other and unspecified local infections of skin and subcutaneous tissue 0.0009934 10.528 3.198 HCN4 rs201143364 15:73323628:G:A 15 73323628 G A 15:73615969 0.849484 512 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services in other circumstances 0.000162 1.1573 0.3068 HCN4 rs200395062 15:73323673:C:T 15 73323673 C T 15:73616014 0.834149 0.00068048 2 248 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of wrist and hand 8.91e-05 2.8905 0.7376 HCN4 rs62641689 15:73323818:C:T 15 73323818 C T 15:73616159 0.992164 1740 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Brugada syndrome 8;Cardiovascular phenotype;Sudden cardiac death;not provided;not specified Oedema, not elsewhere classified 0.000746 0.642 0.1904 Hypothermia 0.002433 39.917 13.167 HCN4 rs138714806 15:73325332:C:G 15 73325332 C G 15:73617673 0.981712 454 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Brugada syndrome 8;Cardiovascular phenotype;not specified Visual field defects 0.000821 2.8062 0.8388 Contracture of joint 0.0004151 179.373 50.81 HCN4 rs151004999 15:73343504:C:T 15 73343504 C T 15:73635845 0.986297 0.00159232 6 579 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Brugada syndrome 8 Adjustment and management of implanted device 8.03e-05 2.0588 0.5221 Arthropod-borne viral fevers and viral haemorrhagic fevers 9.374e-05 26.396 6.757 HCN4 rs143090627 15:73368164:C:T 15 73368164 C T 15:73660505 0.985482 10125 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;not specified Dystonia 0.00054 0.6313 0.1824 Temporomandibular joint disorders 0.0002749 1.679 0.462 LOXL1 rs1048661 15:73927205:G:T 15 73927205 G T 15:74219546 0.998416 0.314662 36626 78977 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Glaucoma, exfoliation 8.71e-41 -0.6363 0.0476 Glaucoma, exfoliation 7.597e-13 -0.388 0.054 LOXL1 rs3825942 15:73927241:G:A 15 73927241 G A 15:74219582 0.998932 0.169233 10454 51720 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Glaucoma, exfoliation 1.08e-52 -0.9598 0.0628 Glaucoma, exfoliation 7.169e-06 -0.437 0.097 PML rs150969738 15:74035757:G:A 15 74035757 G A 15:74328098 0.991528 425 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Other and unspecified parts of mouth (other cancers excluded from controls) 0.000127 5.7248 1.4942 Erythema multiforme 0.000542 143.587 41.51 PML rs743580 15:74035775:A:G 15 74035775 A G 15:74328116 0.999222 0.561183 115980 90192 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of rib(s), sternum and thoracic spine 1.03e-05 -0.1148 0.026 Glaucoma, exfoliation 0.00019 -0.122 0.033 PML rs743581 15:74035800:G:T 15 74035800 G T 15:74328141 0.998502 88501 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute pancreatitis 0.000182 0.1151 0.0307 Retention of urine 0.0003342 0.082 0.023 STRA6 rs150687411 15:74180127:C:T 15 74180127 C T 15:74472468 0.962916 109 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other pleural conditions 0.000897 6.3665 1.917 STRA6 rs145614612 15:74180181:C:T 15 74180181 C T 15:74472522 0.987144 0.00728113 16 2659 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Microphthalmia syndromic 9;Syndromic Microphthalmia, Recessive Acute gastritis 3.39e-05 1.2496 0.3014 Ovarian cyst 3.018e-05 3.913 0.938 STRA6 rs736118 15:74181398:C:T 15 74181398 C T 15:74473739 0.996299 35486 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia in other diseases classified elsewhere 0.00121 0.3373 0.1042 0.0005959 0.457 0.133 STRA6 rs150814749 15:74183933:C:T 15 74183933 C T 15:74476274 0.954771 0.00700622 16 2558 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Microphthalmia syndromic 9;Syndromic Microphthalmia, Recessive;not specified Symptoms and signs involving the digestive system and abdomen 5.37e-05 0.1927 0.0477 4.365e-05 48.915 11.968 STRA6 rs118203962 15:74189244:T:G 15 74189244 T G 15:74481585 0.908942 120 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Pleural plaque 0.000717 5.3432 1.5794 CCDC33 rs77396610 15:74332736:C:T 15 74332736 C T 15:74625077 0.99839 1210 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autoimmune thyroiditis 0.000618 4.098 1.197 CYP11A1 rs6161 15:74343027:C:T 15 74343027 C T 15:74635368 0.995098 1275 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl not provided Non-allergic asthma 0.000647 0.9334 0.2736 Symptoms and signs involving the skin and subcutaneous tissue 0.000917 4.258 1.285 CYP11A1 rs143879080 15:74343968:T:G 15 74343968 T G 15:74636309 0.992276 713 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Connective and other soft tissue, unspecified 0.000411 8.174 2.3136 Unspecified chronic bronchitis 0.0008179 91.367 27.301 CYP11A1 rs58174009 15:74345134:C:T 15 74345134 C T 15:74637475 0.997902 228 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyshidrosis [pompholyx] 0.000421 13.4363 3.8098 CYP11A1 rs143655263 15:74367351:C:T 15 74367351 C T 15:74659692 0.986254 532 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Adrenal Insufficiency;not provided Disorders of sclera, cornea, iris and ciliary body 0.00136 0.7364 0.2299 Osteoporosis 0.005167 19.877 7.108 UBL7 rs200579468 15:74458798:G:C 15 74458798 G C 15:74751139 0.928796 356 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of eye, ear, face and neck 0.000212 4.0055 1.0815 EDC3 rs144174126 15:74635499:G:T 15 74635499 G T 15:74927840 0.992595 639 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of wrist and hand 0.000238 5.0637 1.3781 EDC3 rs139450223 15:74675016:G:C 15 74675016 G C 15:74967357 0.992622 644 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of wrist and hand 0.000244 5.039 1.3736 CYP1A1 rs41279188 15:74720638:G:T 15 74720638 G T 15:75012979 0.994701 1496 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of forces of labour 0.000448 1.1264 0.3209 Benign neoplasm: Transverse colon 0.0002004 21.952 5.903 CYP1A1 rs145198866 15:74720710:C:T 15 74720710 C T 15:75013051 0.956182 1958 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified necrotizing vasculopathies 0.000141 4.1897 1.1009 Benign neoplasm: Short bones of upper limb 0.0008577 97.835 29.349 MPI rs104894489 15:74893306:G:A 15 74893306 G A 15:75185647 0.929592 193 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other arterial embolism and thrombosis 0.00067 9.5862 2.8182 MPI rs7495739 15:74893329:A:G 15 74893329 A G 15:75185670 0.999719 0.440145 71430 90274 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of other and unspecified sites 3.34e-05 -0.3166 0.0763 Cholelithiasis 0.0001938 -0.044 0.012 MPI rs139866632 15:74897074:T:C 15 74897074 T C 15:75189415 0.993345 606 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes, opthalmic co-morbidities 0.000392 3.7436 1.0558 Injury of muscle and tendon at ankle and foot level 0.0002844 253.499 69.851 MPI rs117089191 15:74897148:C:T 15 74897148 C T 15:75189489 0.98967 1783 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;Congenital disorder of glycosylation type 1B;not provided;not specified Contact with and exposure to communicable diseases 0.000489 1.3216 0.379 Other disorders of ear 0.0001477 2.142 0.565 MPI rs116933453 15:74897215:C:T 15 74897215 C T 15:75189556 0.946143 156 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Lactose intolerance, other/unspecified 0.00111 9.362 2.8706 COX5A rs200367305 15:74937941:G:C 15 74937941 G C 15:75230282 0.915919 449 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary right heart disease 0.000383 6.1674 1.7367 NEIL1 rs556576971 15:75349215:G:GC 15 75349215 G GC 15:75641556 0.982976 1579 LC unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Lung diseases due to external agents 0.000114 1.2198 0.3161 Injury of nerves at forearm level 0.0003615 186.32 52.239 NEIL1 rs5745908 15:75349341:T:C 15 75349341 T C 15:75641682 0.98963 0.00212037 2 777 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of spleen 6.61e-05 8.9246 2.2367 SIN3A rs61761938 15:75411664:G:A 15 75411664 G A 15:75704005 0.985611 360 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified dermatitis 0.000472 0.9957 0.2848 CSPG4 rs143855050 15:75682381:C:T 15 75682381 C T 15:75974722 0.933654 212 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified and unspecified disorders of eye and adnexa 0.00138 6.0443 1.8901 ETFA rs140169311 15:76286400:G:C 15 76286400 G C 15:76578741 0.961788 976 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myeloid leukaemia (other cancers excluded from controls) 0.000295 4.833 1.3351 ETFA rs1801591 15:76286421:G:A 15 76286421 G A 15:76578762 0.999126 39359 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Beningn neoplasm: Meninges, unspecified (other cancers excluded from controls) 0.000185 -0.658 0.176 Respiratory distress of newborn 0.0003755 2.12 0.596 SCAPER rs199940124 15:76376206:T:C 15 76376206 T C 15:76668547 0.978195 387 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the respiratory system 0.000638 0.3559 0.1042 SCAPER rs201103561 15:76381467:C:T 15 76381467 C T 15:76673808 0.994046 0.0145949 64 5298 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glaucoma, exfoliation 5.27e-05 0.7348 0.1817 1.269e-05 3.742 0.857 SCAPER rs138813553 15:76381587:G:C 15 76381587 G C 15:76673928 0.994755 660 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteomyelitis 0.00102 2.6641 0.8106 Mild mental retardation 0.0002623 264.152 72.371 SCAPER rs184003295 15:76621818:T:A 15 76621818 T A 15:76914159 0.974166 2745 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to lifestyle 0.000245 1.0475 0.2856 Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.0008001 11.441 3.412 PSTPIP1 rs376128040 15:77018148:T:G 15 77018148 T G 15:77310489 0.950497 427 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified follicular disorders 0.000225 6.6245 1.7959 PSTPIP1 rs34936469 15:77032393:C:T 15 77032393 C T 15:77324734 0.997498 6416 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of skin of trunk 0.000279 1.8066 0.4972 Neurotic, stress-related and somatoform disorders 4.642e-05 1.101 0.27 PSTPIP1 rs11858480 15:77032938:C:T 15 77032938 C T 15:77325279 0.996244 0.0300581 368 10675 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pyogenic arthritis, pyoderma gangrenosum and acne;not specified Secondary uncertain malignant neoplasm (other cancers excluded from controls) 1.34e-05 0.5171 0.1188 Prolonged pregnancy 0.001133 1.749 0.537 PSTPIP1 rs201582038 15:77035518:C:T 15 77035518 C T 15:77327859 0.92546 182 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal epilepsy 0.000502 5.4117 1.5551 TBC1D2B rs138988358 15:78003423:T:C 15 78003423 T C 15:78295765 0.983772 521 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter False labour 0.000376 0.9953 0.2799 Gonarthrosis,primary 0 2.878 0 CIB2 rs200546031 15:78105758:T:G 15 78105758 T G 15:78398100 0.996088 997 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of great arteries 0.000981 3.6226 1.0991 CIB2 rs200697103 15:78109270:C:T 15 78109270 C T 15:78401612 0.979868 937 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oesophagitis 0.00172 2.107 0.6721 CIB2 rs77370542 15:78109278:C:T 15 78109278 C T 15:78401620 0.993262 14806 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Retention of urine 0.000822 0.204 0.061 Vascular diseases of the intestine 0.001244 2.906 0.9 IDH3A rs61752770 15:78161708:T:A 15 78161708 T A 15:78454050 0.94546 211 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi, other sites/unspecified 0.00106 5.923 1.8087 DNAJA4 rs760480186 15:78266242:CAT:C 15 78266242 CAT C 15:78558584 0.997259 12555 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Prolonged pregnancy 0.000862 0.3422 0.1027 Other and/or unspecified nontoxic goitre 0.0007822 1.922 0.572 CHRNA5 rs16969968 15:78590583:G:A 15 78590583 G A 15:78882925 0.999947 0.330531 40346 81087 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter COPD (mode) 2.33e-20 0.2317 0.0251 COPD, early/later onset 7.589e-12 0.169 0.025 ADAMTS7 rs2127898 15:78790778:G:A 15 78790778 G A 15:79083120 0.998281 0.366991 49614 85214 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coronary revascularization (ANGIO or CABG) 9.07e-13 0.1358 0.019 Coronary revascularization (ANGIO or CABG) 4.982e-07 0.095 0.019 ADAMTS7 rs3825807 15:78796769:A:G 15 78796769 A G 15:79089111 0.993652 0.346846 44336 83091 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Ischaemic heart disease, wide definition 5.42e-10 -0.0784 0.0126 COPD (mode) 4.899e-05 0.104 0.026 RASGRF1 rs113161554 15:79003850:C:T 15 79003850 C T 15:79296192 0.98397 459 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma and opportunit respiratory infection 0.00184 4.0395 1.2969 Somatoform disorder 0.0008681 10.815 3.247 RASGRF1 rs145347876 15:79004044:C:T 15 79004044 C T 15:79296386 0.972758 0.0235228 276 8366 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glaucoma, exfoliation 3.48e-05 0.6068 0.1466 3.936e-05 -0.411 0.1 FAH rs80338899 15:80173093:G:A 15 80173093 G A 15:80465435 0.96627 484 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lung diseases due to external agents 0.000374 2.1371 0.6006 FAH rs11555096 15:80180184:C:T 15 80180184 C T 15:80472526 0.994752 0.0256976 258 9183 missense_variant recessive Benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fumarylacetoacetase pseudodeficiency;Tyrosinemia type I;not provided Other neurological diseases 7.46e-05 0.1882 0.0475 Other neurological diseases 3.221e-05 0.978 0.235 ARNT2 rs150257520 15:80574180:T:C 15 80574180 T C 15:80866521 0.997368 1560 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Iridocyclitis in diseases classified elsewhere 0.00164 3.2721 1.0391 Foreign body on external eye 0.0004746 13.756 3.936 ARNT2 rs145379118 15:80580504:G:T 15 80580504 G T 15:80872845 0.942422 834 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (multiple infarctations) 0.000431 5.7314 1.6281 0.000269 245.649 67.422 CEMIP rs144349326 15:80895880:C:G 15 80895880 C G 15:81188221 0.926505 548 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Early onset COPD 0.000614 1.3351 0.3898 Inguinal hernia 1.086e-05 3.833 0.871 CEMIP rs12441101 15:80925683:A:G 15 80925683 A G 15:81218024 0.950163 393 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autoimmune diseases related-to ILD 0.000349 0.7126 0.1993 CEMIP rs151273972 15:80937969:G:A 15 80937969 G A 15:81230310 0.967788 0.00058249 0 214 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hydrocephalus 6.99e-05 8.6799 2.1827 CEMIP rs140790232 15:80942263:C:T 15 80942263 C T 15:81234604 0.959669 302 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Meralgia paraesthetica 0.000696 7.038 2.0754 Meralgia paraesthetica 0.0002013 313.284 84.277 CEMIP rs1019442643 15:80948905:TGAA:T 15 80948905 TGAA T 15:81241246 0.933314 1349 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Helminthiases 0.000519 3.9429 1.136 Fracture of neck 0.002419 68.599 22.615 TMC3 rs150843673 15:81332588:G:T 15 81332588 G T 15:81624929 0.972057 1086 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Malignant neoplasm of larynx (other cancers excluded from controls) 0.000575 5.3148 1.5436 Non-small cell lung cancer, squamous 0.0001534 381.304 100.729 EFL1 rs72749527 15:82138804:C:T 15 82138804 C T 15:82431145 0.999596 10253 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of optic nerve and visual pathways 0.00202 -0.4252 0.1378 Trigger finger 0.0009172 1.85 0.558 EFL1 rs72749532 15:82151813:G:T 15 82151813 G T 15:82444154 0.999582 10128 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for other known or suspected fetal problems 0.00158 -0.2595 0.0821 Trigger finger 0.0009831 1.82 0.552 EFL1 rs200845475 15:82152128:T:C 15 82152128 T C 15:82444469 0.987612 0.00127658 4 465 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified tonssillitis 3.93e-05 1.2929 0.3145 Depression 0 3.828 0 WHAMM rs139061517 15:82830720:C:T 15 82830720 C T 15:83499472 0.990785 0.0085931 34 3123 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified chronic bronchitis 2.55e-05 1.9644 0.4666 Other abnormalities of plasma proteins 0.002032 45.458 14.733 HOMER2 rs79448007 15:82851230:T:C 15 82851230 T C 15:83519982 0.996582 6590 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other general symptoms and signs 0.000344 1.0402 0.2906 Tibial collateral bursitis [Pellegrini-Stieda] 0.0002205 21.959 5.944 ADAMTSL3 rs35633782 15:84031356:C:T 15 84031356 C T 15:84700108 0.990094 0.0165084 126 5939 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of genital organs 2.72e-05 0.7706 0.1837 Thyroiditis, unspecified 0.0004444 15.758 4.487 ADAMTSL3 rs62026486 15:84036992:G:A 15 84036992 G A 15:84705744 0.978373 0.00168487 0 619 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arterial embolism and thrombosis 6.46e-05 3.8237 0.957 WDR73 rs760394400 15:84643645:ACTTGGCTCCGTGTTCCAT:A 15 84643645 ACTTGGCTCCGTGTTCCAT A 15:85186876 0.992425 60641 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of wrist and hand 0.000449 0.3481 0.0992 Acute upper respiratory infections of multiple and unspecified sites 0.000186 0.083 0.022 ZNF592 rs61737677 15:84783724:G:A 15 84783724 G A 15:85326955 0.99179 334 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other articular cartilage disorders 0.000889 6.4267 1.9337 ZNF592 rs8182086 15:84798628:G:A 15 84798628 G A 15:85341859 0.999 65345 missense_variant unknown Benign/Likely benign (likely)Benign no assertion criteria provided no_Criteria Fitting and adjustment of other devices 0.00129 0.0995 0.0309 Superficial injury of hip and thigh 0.0001292 0.235 0.061 ZNF592 rs145238866 15:84798759:C:T 15 84798759 C T 15:85341990 0.995486 0.00403116 8 1473 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of lateral popliteal nerve 5.93e-05 2.5858 0.644 Benign neoplasm: Lip (other cancers excluded from controls) 0.00161 56.254 17.835 ALPK3 rs28431354 15:84817040:A:G 15 84817040 A G 15:85360271 0.987921 0.00122486 2 448 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of synovium and tendon in diseases classified elsewhere 6.82e-05 8.7977 2.2092 ALPK3 rs145993158 15:84823344:G:A 15 84823344 G A 15:85366575 0.99738 5800 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Childhood asthma (age<16) 0.000231 0.4757 0.1292 Degenerative macular diseases 0.0003847 4.6 1.296 ALPK3 rs34407151 15:84839076:G:A 15 84839076 G A 15:85382307 0.98347 2945 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Obesity due to excess calories 0.000213 0.4798 0.1296 Ovarian dysfunction 0.0002024 19.125 5.147 ALPK3 rs3803403 15:84839914:C:G 15 84839914 C G 15:85383145 0.995342 69028 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endocrine, nutritional and metabolic diseases 0.000555 0.0324 0.0094 Disorders of lens 0.0003891 0.063 0.018 ALPK3 rs3803405 15:84840409:G:A 15 84840409 G A 15:85383640 0.995143 68926 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other secondary gonarthrosis 0.000484 0.2593 0.0743 Disorders of lens 0.0004829 0.062 0.018 ALPK3 rs55702300 15:84840478:A:G 15 84840478 A G 15:85383709 0.990642 12381 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Internar derangement of knee 0.00168 0.1097 0.0349 Other and unspecified diseases of blood and blood-forming organs 0.001016 4.858 1.478 ALPK3 rs199986476 15:84840615:C:A 15 84840615 C A 15:85383846 0.993894 7817 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Bullous pemphigoid 0.00178 1.2615 0.4037 Other congenital malformations of the digestive system 0.0007317 5.266 1.559 ALPK3 rs306197 15:84858028:C:T 15 84858028 C T 15:85401259 0.992466 0.73451 198434 71416 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lens 3.18e-05 0.0579 0.0139 Disorders of lens 5.752e-06 0.04 0.009 ALPK3 rs55752937 15:84858366:C:T 15 84858366 C T 15:85401597 0.981483 324 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other articular cartilage disorders 0.000646 7.0453 2.0651 ALPK3 rs34775428 15:84859874:C:A 15 84859874 C A 15:85403105 0.991093 5312 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Disorders resulting from impaired renal tubular function 0.000171 1.4945 0.3977 Noninflammatory disorders of female genital tract 0.001031 -0.559 0.17 ALPK3 rs187316 15:84862764:T:C 15 84862764 T C 15:85405995 0.992896 0.298605 32706 76998 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Cardiac arrhytmias, COPD co-morbidities 2.12e-05 0.0546 0.0128 0.0002493 0.077 0.021 ALPK3 rs36002219 15:84868350:C:T 15 84868350 C T 15:85411581 0.996991 4374 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Disorders of vitreous body and globe 0.00024 -0.3315 0.0903 Prurigo nodularis 0.0001868 23.328 6.244 SLC28A1 rs139484056 15:84924040:T:C 15 84924040 T C 15:85467271 0.985967 379 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Other and unspecified myopathies 0.000243 3.6163 0.9855 SLC28A1 rs2242047 15:84935465:C:T 15 84935465 C T 15:85478696 0.993101 4333 missense_variant unknown Affects association no assertion criteria provided no_Criteria Acute pancreatitis 0.000914 0.4631 0.1397 Benign neoplasm: Brain, supratentorial 0.0001426 26.791 7.043 AKAP13 rs114705815 15:85580539:A:T 15 85580539 A T 15:86123770 0.962386 2522 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of urinary organs 0.000468 0.7543 0.2156 Symptoms and signs involving the urinary system 0.001393 1.96 0.613 ACAN rs199701329 15:88838822:G:A 15 88838822 G A 15:89382053 0.988458 2598 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Anankastic personality disorder 0.000545 1.8015 0.521 Other assisted single delivery 0.0007501 108.204 32.102 ACAN rs34949187 15:88843421:G:A 15 88843421 G A 15:89386652 0.9812 40641 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of liver and intrahepatic bile ducts 0.000124 0.5123 0.1335 Schizophrenia 0.0003095 0.355 0.098 ACAN rs181736584 15:88845819:T:C 15 88845819 T C 15:89389050 0.968012 0.0184328 136 6636 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Undefined dementia 8.29e-06 0.7113 0.1596 Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.0006466 12.707 3.725 ACAN rs2882676 15:88857108:A:C 15 88857108 A C 15:89400339 0.99926 88844 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Colon (other cancers excluded from controls) 0.000204 -0.0769 0.0207 Benign neoplasm: Colon (other cancers excluded from controls) 0.0001862 -0.057 0.015 ACAN rs200762388 15:88858152:G:A 15 88858152 G A 15:89401383 0.99038 0.00297506 0 1093 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other complications of labour and delivery, not elsewhere classified 6.36e-06 2.682 0.5941 RLBP1 rs142244640 15:89211882:A:C 15 89211882 A C 15:89755113 0.867291 68 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spontaneous rupture of synovium and tendon 0.00123 8.955 2.7708 RLBP1 rs56307321 15:89217111:TGGCCTC:T 15 89217111 TGGCCTC T 15:89760342 0.987002 8282 LC both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonorganic sleeping disorders (more controls excluded) 0.000413 0.4732 0.134 Combined immunodeficiencies 0.0002382 20.887 5.684 FANCI rs62020347 15:89260719:C:T 15 89260719 C T 15:89803950 0.997076 0.0315416 426 11162 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Other disorders of veins 5.05e-05 0.2546 0.0628 0.002136 0.223 0.073 FANCI rs17803620 15:89260812:C:T 15 89260812 C T 15:89804043 0.998521 0.451297 74914 90887 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of gallbladder, biliary tract and pancreas 6.79e-05 0.048 0.0121 Disorders of gallbladder, biliary tract and pancreas 0.001028 0.035 0.011 FANCI rs149243307 15:89260841:G:A 15 89260841 G A 15:89804072 0.946918 601 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fanconi anemia Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck 0.000176 2.9038 0.7742 Postprocedural disorders of nervous system 0.001277 65.278 20.266 FANCI rs144908351 15:89281825:A:G 15 89281825 A G 15:89825056 0.981689 493 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Alzheimer's disease (Early onset) 0.000327 3.9503 1.0994 FANCI rs117125761 15:89285210:C:T 15 89285210 C T 15:89828441 0.99896 6181 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not provided;not specified Other and unspecified degenerative diseases of nervous system 0.000206 1.6822 0.4533 Disorders of synovium and tendon in diseases classified elsewhere 0.0003846 16.861 4.749 FANCI rs139814895 15:89292706:A:G 15 89292706 A G 15:89835937 0.999691 0.0217672 206 7791 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fanconi anemia;not provided Coronary artery bypass grafting 8.92e-08 -0.4631 0.0866 Autoimmune thyroiditis 0.0007559 12.416 3.686 FANCI rs2283432 15:89292997:G:C 15 89292997 G C 15:89836228 0.998933 0.452666 75354 90950 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of gallbladder, biliary tract and pancreas 3.29e-05 0.05 0.012 Disorders of gallbladder, biliary tract and pancreas 0.0004149 0.037 0.011 FANCI rs118031800 15:89295062:A:C 15 89295062 A C 15:89838293 0.999247 0.0215903 202 7730 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fanconi anemia;not provided Coronary artery bypass grafting 1.64e-07 -0.4554 0.087 Autoimmune thyroiditis 0.0007424 12.517 3.711 FANCI rs35875311 15:89295087:A:T 15 89295087 A T 15:89838318 0.988034 32966 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Postmenopausal atrophic vaginitsi 0.000157 0.4426 0.1171 Spondylopathies (FG) 0.001415 0.417 0.131 POLG rs3087374 15:89316763:C:A 15 89316763 C A 15:89859994 0.998964 0.139618 7264 44030 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Substance abuse 3.94e-05 0.0944 0.023 Acute alcohol intoxication 5.834e-05 0.302 0.075 POLG rs2307441 15:89318595:T:C 15 89318595 T C 15:89861826 0.9931 0.0325079 408 11535 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Fanconi anemia;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Mitochondrial DNA depletion syndrome 4B, MNGIE type;Mitochondrial diseases;Progressive sclerosing poliodystrophy;Progressive sclerosing poliodystrophy;Seizures;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;not provided;not specified Hypertensive heart and/or renal disease 2.21e-05 0.3117 0.0735 Coronary angiopasty 0.0002343 0.837 0.228 POLG rs41549716 15:89321842:T:C 15 89321842 T C 15:89865073 0.997482 6100 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Progressive sclerosing poliodystrophy;Seizures;not provided;not specified Other and unspecified degenerative diseases of nervous system 0.000195 1.6967 0.4555 Disorders of synovium and tendon in diseases classified elsewhere 0.0004787 15.25 4.367 POLG rs113994097 15:89323426:C:G 15 89323426 C G 15:89866657 0.995644 0.00527235 10 1927 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Charcot-Marie-Tooth disease;Mitochondrial diseases;Myoclonic epilepsy myopathy sensory ataxia;POLG-Related Spectrum Disorders;Progressive sclerosing poliodystrophy;Seizures;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;not provided;not specified Immunodeficiencies 2.21e-05 2.221 0.5234 Other and unspecified degenerative diseases of nervous system 3.928e-07 339.03 66.838 POLG rs121918054 15:89323460:C:G 15 89323460 C G 15:89866691 0.945852 92 missense_variant both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Obsessive-compulsive disorder 0.000808 8.2201 2.4537 POLG rs185645212 15:89323504:C:T 15 89323504 C T 15:89866735 0.996079 2671 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Progressive sclerosing poliodystrophy;not provided Other disorders of breast 0.0011 0.8068 0.2472 Kela-code for behavioural disturbances in mental retardation 0.003287 28.858 9.817 POLG rs113994096 15:89325639:G:A 15 89325639 G A 15:89868870 0.959434 286 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Other bacterial diseases 0.000442 0.7516 0.2139 POLG rs61752783 15:89326947:C:A 15 89326947 C A 15:89870178 0.980241 0.00466537 6 1708 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Camptocormia;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Mitochondrial DNA depletion syndrome 4B, MNGIE type;Mitochondrial diseases;Progressive sclerosing poliodystrophy;Progressive sclerosing poliodystrophy;Seizures;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;not provided;not specified Hallux valgus (acquired) 3.42e-05 0.62 0.1496 Chrystal arthropathies, rheuma endpoint 0.0005342 138.386 39.962 POLG rs145843073 15:89327198:T:C 15 89327198 T C 15:89870429 0.991833 331 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl conjunctival degenerations and deposits 0.000365 8.3239 2.3354 POLG rs145289229 15:89328532:G:C 15 89328532 G C 15:89871763 0.961443 2253 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Mitochondrial DNA depletion syndrome 1 (MNGIE type);Mitochondrial DNA depletion syndrome 4B, MNGIE type;Progressive sclerosing poliodystrophy;Progressive sclerosing poliodystrophy;Seizures;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;not provided;not specified Diseases of oesophagus, stomach and duodenum 0.000196 -0.2593 0.0696 Other maternal disorders predominantly related to pregnancy 0.002374 2.054 0.676 POLG rs61752784 15:89330133:C:G 15 89330133 C G 15:89873364 0.995523 1497 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;Cerebellar ataxia infantile with progressive external ophthalmoplegia;Mitochondrial DNA depletion syndrome 4B, MNGIE type;POLG-Related disorder;Progressive sclerosing poliodystrophy;Progressive sclerosing poliodystrophy;Seizures;Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;not provided;not specified Complications of cardiac and vascular prosthetic devices, implants and grafts 0.00176 3.1985 1.0227 Injury of nerves at wrist and hand level 0.001561 57.961 18.325 POLG rs113994094 15:89330184:G:A 15 89330184 G A 15:89873415 0.958953 298 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Malignant neoplasm of stomach (other cancers excluded from controls) 0.000481 4.3128 1.2354 POLG rs774459114 15:89333726:G:A 15 89333726 G A 15:89876957 0.96814 986 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic iridocyclitis 0.000898 2.3908 0.72 KIF7 rs150248985 15:89628507:G:A 15 89628507 G A 15:90171738 0.994393 860 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acrocallosal syndrome, Schinzel type;not specified Benign neoplasm: Descending colon (other cancers excluded from controls) 0.000588 2.7645 0.8043 Ovarian cyst 5.398e-06 3.392 0.746 KIF7 rs142032413 15:89629547:G:C 15 89629547 G C 15:90172778 0.979894 0.0424701 664 14939 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acrocallosal syndrome, Schinzel type;Hydrolethalus syndrome 2;not specified Nerve, nerve root and plexus disorders 9.15e-05 0.1141 0.0292 Endovascular or surgical operations to intracerebral aneurysms 0.0005536 2.156 0.624 KIF7 rs12900805 15:89631593:C:T 15 89631593 C T 15:90174824 0.999956 87815 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Symptoms and signs involving cognition, perception, emotional state and behaviour 0.000784 0.0397 0.0118 Symptoms and signs involving cognition, perception, emotional state and behaviour 0.0008302 0.028 0.008 KIF7 rs138410949 15:89631625:T:C 15 89631625 T C 15:90174856 0.983761 0.00146439 12 526 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Acrocallosal syndrome, Schinzel type;not provided;not specified Abscess of external ear 4.88e-05 10.6814 2.6299 Ulcer of oesophagus 0.0003486 15.522 4.34 KIF7 rs3803530 15:89632842:C:A 15 89632842 C A 15:90176073 0.999772 87717 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory disease of uterus 0.000755 0.12 0.0356 Symptoms and signs involving cognition, perception, emotional state and behaviour 0.0007306 0.028 0.008 KIF7 rs138354681 15:89633777:T:C 15 89633777 T C 15:90177008 0.985596 0.00145078 4 529 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cyst of Bartholin Gland 4.58e-06 5.67 1.2371 KIF7 rs149814240 15:89645930:C:T 15 89645930 C T 15:90189161 0.994231 6747 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Myasthenia gravis 0.00026 1.5881 0.4348 Other benign neoplasms of uterus (other cancers excluded from controls) 8.078e-05 9.789 2.483 KIF7 rs191721354 15:89649309:C:CA 15 89649309 C CA 15:90192540 0.890107 223 pLoF recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Other special examinations and investigations of persons without complaint or reported diagnosis 0.00023 0.6439 0.1748 KIF7 rs8179065 15:89652777:C:T 15 89652777 C T 15:90196008 0.994414 67293 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specific joint derangements/joint disorders 0.000246 0.0602 0.0164 0.0001153 0.189 0.049 PLIN1 rs8179071 15:89667102:G:A 15 89667102 G A 15:90210333 0.913573 0.00353849 12 1288 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monogenic diabetes;not specified Maternal care for other known or suspected fetal problems 4.79e-05 1.0577 0.2602 Diabetes, opthalmic co-morbidities 4.011e-05 47.443 11.552 PLIN1 rs6496589 15:89669998:G:C 15 89669998 G C 15:90213229 0.999279 0.956283 336050 15277 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Secondary uncertain malignant neoplasm 7.34e-05 -0.3912 0.0987 Secondary uncertain malignant neoplasm 0.0001963 -0.19 0.051 PLIN1 rs111663599 15:89670112:C:A 15 89670112 C A 15:90213343 0.992781 0.0523425 1066 18164 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Monogenic diabetes Other disorders of skin and subcutaneous tissue 3.58e-05 0.1469 0.0355 Idiopathic gout 6.147e-06 2.297 0.508 ANPEP rs144282919 15:89803917:G:C 15 89803917 G C 15:90347148 0.993741 0.00215032 8 782 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Manic episode 6.71e-05 3.6247 0.9093 Infections of the skin and subcutaneous tissue 8.865e-05 8.063 2.057 ANPEP rs146926671 15:89805203:G:T 15 89805203 G T 15:90348434 0.991092 0.00215032 8 782 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Manic episode 6.38e-05 3.6455 0.9118 Infections of the skin and subcutaneous tissue 9.639e-05 8.184 2.099 IDH2 rs118053940 15:90084321:G:A 15 90084321 G A 15:90627553 0.848149 681 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peptic ulcer 0.000208 9.9293 2.677 IDH2 rs118101777 15:90087472:C:T 15 90087472 C T 15:90630704 0.989185 2306 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Persistent mood disorders 0.0017 0.5339 0.1701 Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck 0.004416 22.13 7.774 BLM rs144706057 15:90747403:T:C 15 90747403 T C 15:91290633 0.97346 229 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Isolated proteinuria with specified morphological lesion 0.000116 12.0113 3.1156 BLM rs200364297 15:90754938:G:A 15 90754938 G A 15:91298168 0.957604 229 LC recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of continuity of bone 0.000939 4.6898 1.4176 BLM rs12720097 15:90763011:G:A 15 90763011 G A 15:91306241 0.97194 1130 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bloom syndrome;Hereditary cancer-predisposing syndrome;not specified Fall on same level 0.00112 2.6062 0.8 Injury of muscle and tendon at forearm level 0.001017 80.168 24.397 BLM rs146077918 15:90765340:C:T 15 90765340 C T 15:91308570 0.899564 161 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Complications of labour and delivery 0.000353 1.2027 0.3366 BLM rs149754073 15:90769187:C:A 15 90769187 C A 15:91312417 0.991409 2240 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bloom syndrome;Hereditary cancer-predisposing syndrome;not provided Benign neoplasm of other and unspecified female genital organs (other cancers excluded from controls) 0.000113 1.721 0.4458 Arthropod-borne viral fevers and viral haemorrhagic fevers 0.0004885 14.543 4.171 BLM rs2227935 15:90782869:C:T 15 90782869 C T 15:91326099 0.996273 31680 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Enterocolitis due to Clostridium difficile 0.000886 -0.2488 0.0748 Alergic contact dermatitis 2.933e-05 0.593 0.142 BLM rs7167216 15:90811291:G:A 15 90811291 G A 15:91354521 0.999326 40450 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Otalgia 0.000334 0.3115 0.0868 Alergic contact dermatitis 4.187e-05 0.424 0.103 UNC45A rs146010728 15:90948653:G:T 15 90948653 G T 15:91491883 0.969431 269 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain and other conditions associated with female genital organs and menstrual cycle 0.000629 2.0851 0.6099 PRC1 rs12911192 15:90970444:T:C 15 90970444 T C 15:91513674 0.998436 23130 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Familial cancer of breast Type 1 diabetes, wide definition, subgroup 2 0.000202 0.7948 0.2139 Disorders of conjunctiva 0.001333 0.229 0.071 VPS33B rs11073964 15:91000531:C:T 15 91000531 C T 15:91543761 0.997259 0.414777 63654 88730 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endocrine, nutritional and metabolic diseases 6.81e-08 0.0445 0.0082 Endocrine, nutritional and metabolic diseases 1.358e-05 0.033 0.008 VPS33B rs139709507 15:91002181:C:T 15 91002181 C T 15:91545411 0.987986 557 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Follow-up examination after treatment for conditions other than malignant neoplasms 0.000381 0.7162 0.2016 VPS33B rs145070485 15:91005059:C:T 15 91005059 C T 15:91548289 0.99223 3837 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified disorders of bone/cartilage 0.000522 1.4681 0.4232 Injuries to the wrist and hand 0.0005292 1.136 0.328 VPS33B rs149121639 15:91005077:A:G 15 91005077 A G 15:91548307 0.997414 2523 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome;not specified Persons encountering health services for specific procedures and health care 0.000104 -0.2669 0.0687 Melanoma in situ (other cancers excluded from controls) 1.748e-05 65.689 15.295 VPS33B rs145303578 15:91005780:C:T 15 91005780 C T 15:91549010 0.994722 902 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome;not provided Toxic effect of ethanol 0.00239 1.7833 0.5871 Endocrine, nutritional and metabolic diseases 0 1.727 0 CHD2 rs117844037 15:92939634:A:G 15 92939634 A G 15:93482864 0.923937 893 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, childhood-onset;History of neurodevelopmental disorder;not specified Keratoconus 0.000283 4.6807 1.2895 Unspecified diabetes without complications 0.0002299 19.015 5.162 CHD2 rs61756301 15:93002258:T:A 15 93002258 T A 15:93545488 0.994466 6561 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, childhood-onset;History of neurodevelopmental disorder;not specified Other disorders of choroid 0.000254 1.8308 0.5005 Certain zoonotic bacterial diseases 0.0006787 13.018 3.831 CHD2 rs56227200 15:93014724:G:C 15 93014724 G C 15:93557954 0.975404 13351 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, childhood-onset;History of neurodevelopmental disorder;not provided;not specified Desensitization to allergens 0.000586 0.5673 0.165 Subarachnoid haemmorrhage 0.001738 1.598 0.51 MCTP2 rs149133063 15:94298405:G:A 15 94298405 G A 15:94841634 0.993955 0.00306488 6 1120 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tinnitus 8.66e-05 1.0685 0.2722 Multiple myeloma and malignant plasma cell neoplasms 0.0004533 159.856 45.582 MCTP2 rs77311454 15:94356159:G:A 15 94356159 G A 15:94899388 0.971829 0.000759415 0 279 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with ketoacidosis 4.02e-05 10.1711 2.4769 MCTP2 rs140648009 15:94367792:G:C 15 94367792 G C 15:94911021 0.982163 2629 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital iodine-deficiency syndrome/hypothyroidism 0.000489 2.0955 0.601 Bronchiectasis 6.781e-05 32.886 8.255 ARRDC4 rs146146673 15:97965937:G:C 15 97965937 G C 15:98509167 0.968847 1265 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Descending colon 0.000423 2.3246 0.6593 Hard cardiovascular diseases 0.0001398 3.593 0.944 IGF1R rs34516635 15:98908747:G:A 15 98908747 G A 15:99451976 0.994845 0.00259671 0 954 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cervicobrachial syndrome 7.92e-06 1.3866 0.3104 IGF1R rs117440569 15:98908773:A:G 15 98908773 A G 15:99452002 0.986514 408 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Heartburn 0.00184 2.6665 0.8559 IGF1R rs45506098 15:98916049:C:T 15 98916049 C T 15:99459278 0.962404 4294 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Lagophthalmos 0.000632 2.5663 0.7509 Personal history of risk-factors, not elsewhere classified 0.0001802 22.33 5.962 IGF1R rs56294552 15:98916085:G:T 15 98916085 G T 15:99459314 0.937646 2247 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Insulin-like growth factor 1 resistance to;not specified Other special examinations and investigations of persons without complaint or reported diagnosis 0.000706 -0.1862 0.055 Vertigo of central origin 0.001327 59.473 18.527 IGF1R rs143193096 15:98916098:G:A 15 98916098 G A 15:99459327 0.906024 277 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter AION (anterior ischemic optic neuropathy) 0.00134 8.8272 2.7528 IGF1R rs143940675 15:98957407:C:T 15 98957407 C T 15:99500636 0.984036 649 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Postzoster neuralgia 0.000251 9.23 2.5213 SYNM rs192270232 15:99131061:G:A 15 99131061 G A 15:99671266 0.910963 296 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hammer toe(s) (acquired) 0.000193 2.4124 0.6471 SYNM rs137888307 15:99131992:C:T 15 99131992 C T 15:99672197 0.911634 0.00350311 6 1281 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intermittent heterotropia 8.25e-05 2.3492 0.5967 Other facial nerve disorders 0.0004687 122.363 34.98 SYNM rs35238587 15:99132765:G:A 15 99132765 G A 15:99672970 0.964926 734 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis of hip 0.000228 6.3221 1.7153 MEF2A rs111748677 15:99712688:A:G 15 99712688 A G 15:100252893 0.909298 0.00134191 8 485 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diabetes, wide definition 4.87e-05 0.6695 0.1648 0 3.58 0 ADAMTS17 rs2573652 15:99974409:T:C 15 99974409 T C 15:100514614 0.997163 69060 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disease of Bartholin gland 0.000587 0.2774 0.0807 Other and unspecified disease of Bartholin gland 0.0005441 0.173 0.05 ADAMTS17 rs143817747 15:100054042:G:A 15 100054042 G A 15:100594247 0.997407 3974 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of forces of labour 0.000335 0.6897 0.1923 Hypopituitarism 0.0005939 13.409 3.904 ADAMTS17 rs28567966 15:100152640:A:G 15 100152640 A G 15:100692845 0.995836 0.104957 4104 34456 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Weill-Marchesani-like syndrome Special screening examination for infectious and parasitic diseases 8.8e-05 0.1356 0.0346 COPD-related respiratory insufficiency 0.0006847 -0.231 0.068 ADAMTS17 rs72755233 15:100152748:G:A 15 100152748 G A 15:100692953 0.970272 0.11686 5064 37869 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carpal tunnel syndrome 6.92e-06 0.1179 0.0262 Generalized epilepsy, strict edfinition 0.0002045 0.53 0.143 ADAMTS17 rs140930935 15:100155214:A:G 15 100155214 A G 15:100695419 0.968476 187 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fibrosis and chirrhosis of liver 0.000161 7.1416 1.8926 ADAMTS17 rs7496668 15:100281371:G:A 15 100281371 G A 15:100821576 0.998967 81857 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lactose intolerance, other/unspecified 0.000309 0.3114 0.0863 Pilonidal cyst 0.001646 0.153 0.049 CERS3 rs148139207 15:100490927:C:T 15 100490927 C T 15:101031132 0.971849 770 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified diabetes without complications 0.00107 1.6798 0.5134 4.153e-05 1.855 0.453 LINS1 rs8451 15:100569472:C:A 15 100569472 C A 15:101109677 0.99513 88997 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conductive and sensorineural hearing loss 0.000527 0.0462 0.0133 Disorders related to short gestation and low birth weight, not elsewhere classified 0.0003756 0.383 0.108 LINS1 rs12157 15:100569589:C:G 15 100569589 C G 15:101109794 0.995234 88985 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonorganic sleeping disorders (more controls excluded) 0.000713 0.1336 0.0395 Disorders related to short gestation and low birth weight, not elsewhere classified 0.0003765 0.383 0.108 LINS1 rs141855950 15:100569699:T:C 15 100569699 T C 15:101109904 0.933968 564 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glomerular diseases 0.000163 1.3378 0.3549 LINS1 rs12915007 15:100569891:T:C 15 100569891 T C 15:101110096 0.998157 9313 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General examination and investigation of persons without complaint and reported diagnosis 0.000606 -0.1396 0.0407 Osteopathies and chondropathies 0.0004611 0.935 0.267 LINS1 rs2411837 15:100570097:C:G 15 100570097 C G 15:101110302 0.994545 87155 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothermia 0.00154 -0.3512 0.1109 Metatarsalgia 0.0007508 -0.157 0.046 LINS1 rs11247226 15:100580758:T:C 15 100580758 T C 15:101120963 0.992454 89001 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conductive and sensorineural hearing loss 0.00051 0.0463 0.0133 Disorders related to short gestation and low birth weight, not elsewhere classified 0.0003597 0.385 0.108 ALDH1A3 rs1130737 15:100879950:A:G 15 100879950 A G 15:101420155 0.931003 463 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microphthalmia, isolated 8;not provided Open wound of ankle and foot 0.000224 2.8752 0.7792 Anomalies of pupillary function 0.001269 65.331 20.271 ALDH1A3 rs3803430 15:100905610:A:G 15 100905610 A G 15:101445815 0.983234 14786 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Lesion of radial nerve 0.000353 0.6188 0.1732 Fracture of neck 0.001568 2.031 0.642 LRRK1 rs113989128 15:100989306:A:G 15 100989306 A G 15:101529511 0.99311 1139 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postpartum haemorrhage 0.000237 1.0139 0.2758 LRRK1 rs55739947 15:101010802:C:A 15 101010802 C A 15:101551007 0.988064 0.0120635 68 4364 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nontoxic single thyroid nodule 3.5e-05 0.9945 0.2403 0.002056 -3.572 1.159 LRRK1 rs55798315 15:101021070:C:T 15 101021070 C T 15:101561275 0.948892 1625 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Juvenile osteochondrosis 0.00162 1.9466 0.6176 Other and unspecified mononeuropathies of upper limb 0.001114 74.208 22.763 LRRK1 rs141102052 15:101024824:G:A 15 101024824 G A 15:101565029 0.807803 0.00103705 4 377 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified disorders of vestibular function 5.24e-05 7.8046 1.9295 LRRK1 rs34876840 15:101065824:C:A 15 101065824 C A 15:101606029 0.989861 1605 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of stomach and duodenum 0.000802 1.5268 0.4555 Primary coxarthrosis, bilateral 0.000287 14.76 4.07 LRRK1 rs41525944 15:101065985:C:T 15 101065985 C T 15:101606190 0.964652 3030 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn's disease of small interstine 0.000668 1.0756 0.3161 Hallux valgus (acquired) 0.001561 3.593 1.136 CHSY1 rs148193087 15:101178472:A:G 15 101178472 A G 15:101718677 0.983242 0.000721308 2 263 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oesophagitis 7.89e-05 6.3412 1.6063 CHSY1 rs74752435 15:101178745:T:C 15 101178745 T C 15:101718950 0.998546 9307 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Temtamy preaxial brachydactyly syndrome !!!Vapaa-ajan tapaturmat 0.000169 1.7277 0.4593 Radiation-related disorders of the skin and subcutaneous tissue 0.0001644 1.414 0.375 PCSK6 rs34631529 15:101305277:G:A 15 101305277 G A 15:101845482 0.989268 1824 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of ovaries, fallopian tubes and broad ligaments 0.00126 1.5035 0.4661 Abnormal findings in nipple discharge synovial fluid wound secretions 0.0004437 165.972 47.25 PCSK6 rs149680467 15:101313475:G:A 15 101313475 G A 15:101853680 0.946152 604 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of other B group vitamins 0.00037 5.8971 1.6561 PCSK6 rs45482895 15:101318331:C:T 15 101318331 C T 15:101858536 0.971594 0.00810043 30 2946 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General symptoms and signs 8.88e-06 0.214 0.0482 Persons encountering health services in other circumstances 0.000656 5.087 1.493 NPRL3 rs11558704 16:93226:C:A 16 93226 C A 16:143224 0.954408 2351 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy, familial focal, with variable foci 3 Keratitis 0.000681 0.4735 0.1394 Conductive hearing loss, unspecified 0.0003466 16.352 4.571 NPRL3 rs73478320 16:110604:T:G 16 110604 T G 16:160602 0.949134 10481 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy, familial focal, with variable foci 3 Other specified/unspecified inflammatory spondylopathies 0.000857 0.6512 0.1953 Oesophageal varices 0.001117 4.408 1.352 NPRL3 rs75187722 16:130530:G:A 16 130530 G A 16:180529 0.994503 10301 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy, familial focal, with variable foci 3 Malignant neoplasm of corpus uteri 0.000214 0.546 0.1475 Continuous positive airway pressure 0.000384 1.537 0.433 AXIN1 rs34015754 16:288189:C:T 16 288189 C T 16:338189 0.997077 12036 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of abdomen, lower back and pelvis 0.000266 0.376 0.1031 Moderate visual impairment, binocular 7.279e-05 5.54 1.397 AXIN1 rs146947903 16:298021:G:C 16 298021 G C 16:348021 0.955987 3273 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to use of other stimulants, including caffeine 0.000665 1.5151 0.4452 Anisometropia and aniseikonia 0.0006526 18.63 5.465 PIGQ rs200914759 16:574115:C:T 16 574115 C T 16:624115 0.845253 120 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other conjunctival vascular disorders and cysts 0.000215 18.9172 5.1119 PIGQ rs111753944 16:574424:C:T 16 574424 C T 16:624424 0.98007 0.0039495 2 1449 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other melanin hyperpigmentation 8.62e-05 4.2506 1.0826 PIGQ rs199735408 16:575973:G:A 16 575973 G A 16:625973 0.916028 0.000887345 0 326 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm (other cancers excluded from controls) 9.3e-06 1.9624 0.4427 PIGQ rs150887807 16:578832:G:A 16 578832 G A 16:628832 0.872535 249 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism,other/unspecified 0.000116 0.9455 0.2453 PIGQ rs202031540 16:579119:G:T 16 579119 G T 16:629119 0.98899 0.00433329 6 1586 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epilepsy Malnutrition 9.06e-05 5.029 1.2848 Lagophthalmos 0.000335 218.602 60.949 STUB1 rs148553428 16:681318:G:A 16 681318 G A 16:731318 0.958559 610 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of blood and blood-forming organs 0.000562 1.3843 0.4013 Nonalcoholic fatty liver disease 0.001826 49.57 15.902 STUB1 rs146251364 16:681512:A:C 16 681512 A C 16:731512 0.826724 386 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Postprocedural musculoskeletal disorders, not elsewhere classified 0.00042 4.253 1.2057 Non-small cell lung cancer 0.0002855 243.557 67.131 CCDC78 rs186738044 16:724494:C:T 16 724494 C T 16:774494 0.967538 8411 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myopathy, centronuclear, 4 Respiratory tuberculosis 0.00061 0.6267 0.1829 Respiratory tuberculosis 0.0001751 3.472 0.925 CCDC78 rs2071950 16:724692:A:G 16 724692 A G 16:774692 0.995278 87098 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.000829 0.0455 0.0136 0.000108 -0.036 0.009 CCDC78 rs142136104 16:724734:T:G 16 724734 T G 16:774734 0.947302 6327 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myopathy, centronuclear, 4;not specified Other congenital malformations of circulatory system 0.000543 1.3512 0.3906 Other and unspecified disorders of vitreous body 0.001246 1.715 0.531 CCDC78 rs138669350 16:725236:C:T 16 725236 C T 16:775236 0.981439 4001 pLoF dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myopathy, centronuclear, 4;not provided;not specified Injury of nerves and spinal cord at neck level 0.00132 1.8291 0.5695 Benign mammary dysplasia 2.543e-05 5.131 1.219 CCDC78 rs148705181 16:725293:C:A 16 725293 C A 16:775293 0.923261 129 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Ovarian dysfunction 0.00106 6.0254 1.8402 NARFL rs137994770 16:730575:C:T 16 730575 C T 16:780575 0.960315 1062 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of breast, intraductal 0.000727 2.0274 0.6 NARFL rs201910077 16:737218:C:T 16 737218 C T 16:787218 0.98765 1528 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of heart beat 0.000262 0.6527 0.1788 Lagophthalmos 0.0003355 216.625 60.404 MSLN rs150425699 16:768452:G:A 16 768452 G A 16:818452 0.983671 2551 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Small intestine (other cancers excluded from controls) 0.00208 1.3784 0.4477 Presence of other functional implants 0.0003429 3.587 1.002 MSLN rs74953641 16:768698:G:A 16 768698 G A 16:818698 0.952909 4052 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Keratoconus 0.000264 1.8265 0.5007 Systemic lupus erythematosus, unspecified 0.00015 27.304 7.202 LMF1 rs138205062 16:869948:G:A 16 869948 G A 16:919948 0.860911 81 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other appendicitis 0.000432 7.7469 2.2011 LMF1 rs192224688 16:893047:C:T 16 893047 C T 16:943047 0.962393 6839 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of other sites/unspecified 0.000493 0.5556 0.1595 Dissection of aorta 3.951e-06 11.378 2.466 CACNA1H rs60593994 16:1195509:G:C 16 1195509 G C 16:1245509 0.981359 2165 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, childhood absence 6;Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy Testicular hypofunction 0.000193 3.2341 0.8674 Other pleural conditions 0.0003999 14.571 4.116 CACNA1H rs36117280 16:1200389:A:G 16 1200389 A G 16:1250389 0.994014 0.162147 9618 49953 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Guttate psoriasis 3.91e-05 0.6967 0.1694 Other/unspecified synovitis and tenosynovitis 0.0003434 0.298 0.083 CACNA1H rs59650398 16:1200446:G:A 16 1200446 G A 16:1250446 0.950037 6345 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy Pain in thoracic spine 0.000379 0.4936 0.1389 Cervicalgia 0.0002535 2.482 0.678 CACNA1H rs765665281 16:1201903:C:T 16 1201903 C T 16:1251903 0.943109 0.000598822 2 218 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of thyroid, IBD co-morbidities 1.38e-05 3.5054 0.8065 CACNA1H rs9924241 16:1202114:C:T 16 1202114 C T 16:1252114 0.973106 6023 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided;not specified Heartburn 0.000343 0.7102 0.1984 Autonomic disorders 0.0007279 14.226 4.21 CACNA1H rs60734921 16:1202303:C:T 16 1202303 C T 16:1252303 0.866685 52 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 2 diabetes, strict (exclude DM1) 0.000713 1.6948 0.5008 CACNA1H rs61734410 16:1202369:C:T 16 1202369 C T 16:1252369 0.978456 80957 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to negative life events in childhood 0.00103 -0.3591 0.1094 Other disorders of binocular movement 6.582e-05 0.458 0.115 CACNA1H rs4984636 16:1202441:T:C 16 1202441 T C 16:1252441 0.995853 79343 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia in other diseases classified elsewhere 0.000136 -0.2628 0.0689 Type 2 diabetes with coma 8.907e-05 0.159 0.041 CACNA1H rs145376050 16:1204064:C:T 16 1204064 C T 16:1254064 0.961341 855 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided Other bursitis of knee 0.000286 6.6345 1.829 2.545e-07 5.143 0.998 CACNA1H rs60534546 16:1204345:G:T 16 1204345 G T 16:1254345 0.950681 317 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified effects of external causes 0.00395 1.3467 0.4673 CACNA1H rs28365117 16:1204361:A:T 16 1204361 A T 16:1254361 0.979615 1193 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided Impingement syndrome of shoulder 0.000522 0.713 0.2055 0 2.962 0 CACNA1H rs3751664 16:1204369:C:T 16 1204369 C T 16:1254369 0.969199 0.10606 4424 34541 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, childhood absence 6;not provided;not specified Spondyloarthritis 9.1e-05 -0.1999 0.0511 Hyperkinetic disorders (more controls excluded) 0.0003927 0.836 0.236 CACNA1H rs58173258 16:1206126:G:A 16 1206126 G A 16:1256126 0.920803 172 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Any mental disorder, or suicide (or attempt), or psychic disorders complicating pregnancy, partum or puerperum or nerve system disorders 0.000555 -0.7349 0.2128 CACNA1H rs59052554 16:1206259:C:T 16 1206259 C T 16:1256259 0.84811 158 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Death due to cardiac causes 0.000429 2.0207 0.5738 CACNA1H rs41292285 16:1208033:G:T 16 1208033 G T 16:1258033 0.885626 439 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided Cerebral palsy 0.000883 6.5557 1.9715 Other strabismus 0.0007696 30.094 8.947 CACNA1H rs201352768 16:1210449:G:A 16 1210449 G A 16:1260449 0.98315 343 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Vagina 0.000119 12.1015 3.1453 Benign neoplasm: other/unspecified salivary gland 0.0006068 126.484 36.891 CACNA1H rs755817927 16:1211508:G:A 16 1211508 G A 16:1261508 0.979675 816 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy Benign lipomatous neoplasm of other sites/unspecified (other cancers excluded from controls) 0.000425 1.7184 0.4876 Interstitial lung disease endpoints 0 3.808 0 CACNA1H rs59286323 16:1213819:C:T 16 1213819 C T 16:1263819 0.925854 1392 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided;not specified Malignant neoplasm of stomach 0.00097 2.056 0.6232 Unstable angina pectoris 1.242e-07 -9.852 1.863 CACNA1H rs148651456 16:1215315:G:A 16 1215315 G A 16:1265315 0.980366 2445 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not provided Fracture of forearm 0.000272 0.3848 0.1057 Malaise and fatigue 1.705e-05 6.478 1.506 CACNA1H rs58124832 16:1218376:G:A 16 1218376 G A 16:1268376 0.994779 0.0549637 1222 18971 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma (mode) 9.72e-06 -0.1284 0.029 Concussion 0.0007123 0.344 0.101 CACNA1H rs72552054 16:1218979:C:T 16 1218979 C T 16:1268979 0.982739 7272 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified Ingrowing nail 0.000718 0.728 0.2152 Paralytic ileus 0.003988 5.474 1.901 CACNA1H rs3751886 16:1219003:A:G 16 1219003 A G 16:1269003 0.990176 3967 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy;not specified Post-traumatic wound infection, not elsewhere classified 0.000599 1.9115 0.557 Alcohol dependence 4.121e-06 6.245 1.356 CACNA1H rs72552056 16:1219095:C:T 16 1219095 C T 16:1269095 0.995814 0.0556659 1256 19195 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma (more controls excluded) 1.73e-05 -0.1222 0.0284 Trigger finger 0.0006058 0.875 0.255 CACNA1H rs1054644 16:1220111:G:A 16 1220111 G A 16:1270111 0.995465 35281 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Chronic nephritic syndrome 0.000571 0.3251 0.0944 0.0003471 -0.102 0.028 CACNA1H rs1054645 16:1220162:G:A 16 1220162 G A 16:1270162 0.996298 79645 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sleep disorders 0.00127 0.1222 0.0379 Complications following abortion and ectopic and molar pregnancy 0.0004422 0.321 0.091 CACNA1H rs59487037 16:1220350:G:A 16 1220350 G A 16:1270350 0.969516 0.00409376 6 1498 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Cranial nerves 8.33e-05 3.2894 0.836 Pulmonary oedema 0.0007452 107.33 31.826 CACNA1H rs200675829 16:1220449:C:T 16 1220449 C T 16:1270449 0.838915 105 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia in other diseases classified elsewhere 0.00173 7.9501 2.5382 CACNA1H rs376919826 16:1220803:G:A 16 1220803 G A 16:1270803 0.916978 259 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Connective and other soft tissue of head, face and neck (other cancers excluded from controls) 0.000454 10.5304 3.0032 CACNA1H rs58535913 16:1220866:A:G 16 1220866 A G 16:1270866 0.969098 3911 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperaldosteronism, familial, type IV;Idiopathic generalized epilepsy Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 0.001 0.3762 0.1144 Chlocystitis 0.0007801 5.006 1.49 TPSG1 rs117001332 16:1221910:G:T 16 1221910 G T 16:1271910 0.979066 259 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contraceptive management 0.000251 1.0848 0.2963 TPSD1 rs142998820 16:1258332:G:A 16 1258332 G A 16:1308333 0.969023 1850 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the shoulder and upper arm 0.000382 0.3369 0.0948 0.0008862 8.043 2.419 CLCN7 rs11860968 16:1446612:T:C 16 1446612 T C 16:1496613 0.994728 22150 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteopetrosis;not specified Acute and transient psychotic disorders 0.00111 -0.2502 0.0767 Rheumatic fever incl heart disease 0.0008177 1.387 0.415 CLCN7 rs12926089 16:1452856:C:T 16 1452856 C T 16:1502857 0.996116 22546 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteopetrosis;Osteopetrosis autosomal recessive 4;not specified Crohn disease 0.000561 -0.2604 0.0755 Epilepsy 0.0004947 0.413 0.119 TELO2 rs140903666 16:1494312:G:A 16 1494312 G A 16:1544313 0.957321 91 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Larynx 0.000262 20.6201 5.6482 Divergent concomitant strabismus 0.002001 43.633 14.12 TELO2 rs144863771 16:1494313:C:A 16 1494313 C A 16:1544314 0.951736 83 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Larynx 0.000284 21.4161 5.9011 Divergent concomitant strabismus 0.002001 43.633 14.12 TELO2 rs141647559 16:1495588:T:C 16 1495588 T C 16:1545589 0.838651 0.00115954 4 422 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seropositive rheumatoid arthritis, strict definition 2.76e-05 4.391 1.0474 TELO2 rs563480879 16:1497364:A:G 16 1497364 A G 16:1547365 0.947059 1080 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteomyelitis 0.000634 2.1738 0.6362 ILD Co-morbidites, CVD and metabolic diseases 3.756e-05 -1.36 0.33 TELO2 rs118041797 16:1500112:G:A 16 1500112 G A 16:1550113 0.949914 630 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of cardiac septa 0.000319 3.0461 0.8463 TELO2 rs146401595 16:1502979:C:T 16 1502979 C T 16:1552980 0.988871 1121 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn disease ( strict definition, all UC cases excluded) 0.00136 2.2218 0.6939 Benign neoplasm: Connective and other soft tissue, unspecified 0.0002783 228.952 62.99 IFT140 rs201065562 16:1510952:C:T 16 1510952 C T 16:1560953 0.956634 328 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other general symptoms and signs 0.000331 6.0617 1.6887 IFT140 rs35823417 16:1519928:C:G 16 1519928 C G 16:1569929 0.961018 536 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fourth [trochlear] nerve palsy 0.000273 6.7505 1.8548 IFT140 rs2235638 16:1523889:G:A 16 1523889 G A 16:1573890 0.983917 10477 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not specified Fistulae involving female genital tract 0.000673 1.1899 0.3499 Fissure and fistula of anal and rectal regions 0.001208 1.047 0.323 IFT140 rs200876696 16:1526627:C:T 16 1526627 C T 16:1576628 0.987583 0.0271348 328 9641 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Metatarsalgia 5.63e-05 0.5974 0.1483 Other neurotic disorders 0.0009742 2.442 0.74 IFT140 rs202189990 16:1526635:G:A 16 1526635 G A 16:1576636 0.971113 2878 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia Other articular cartilage disorders 0.00012 1.9237 0.5003 Perineal laceration during delivery 0.0002329 16.721 4.543 IFT140 rs11648609 16:1566200:C:T 16 1566200 C T 16:1616201 0.996384 7984 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not specified Other and unspecified visual disturbances 0.000496 0.6799 0.1952 Other diseases of intestines 0.001291 0.455 0.141 IFT140 rs150903791 16:1571518:A:T 16 1571518 A T 16:1621519 0.952398 0.0134054 70 4855 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not specified Gluteal tendinitis 3.73e-05 1.977 0.4795 Examination and encounter for administrative purposes 0.004421 23.779 8.354 IFT140 rs139619013 16:1584240:T:C 16 1584240 T C 16:1634241 0.989438 350 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not specified Benign neoplasm: Adrenal gland (other cancers excluded from controls) 0.00103 4.6445 1.4146 Cyst of kidney 0.002862 33.955 11.386 IFT140 rs34762152 16:1584384:C:T 16 1584384 C T 16:1634385 0.999643 17569 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not specified Other or ill-defined heart diseases 0.000794 0.4651 0.1386 Calculus of kidney and ureter 0.0001705 0.721 0.192 IFT140 rs4786350 16:1587999:C:G 16 1587999 C G 16:1638000 0.988289 38785 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 0.000439 -0.2079 0.0592 Abnormal findings on diagnostic imaging of lung 0.0003958 0.218 0.062 IFT140 rs141993139 16:1589657:C:T 16 1589657 C T 16:1639658 0.934689 443 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm of major salivary glands 0.000197 3.0582 0.8214 IFT140 rs146128830 16:1602417:C:T 16 1602417 C T 16:1652418 0.998049 4706 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia;not specified Asthma (mode) 0.000522 -0.2022 0.0583 Kela-code for behavioural disturbances in mental retardation 0.001814 51.612 16.547 IFT140 rs145267929 16:1607245:G:C 16 1607245 G C 16:1657246 0.930562 174 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Crohn disease ( strict definition, all UC cases excluded) 0.00499 5.4039 1.9245 NME3 rs552834368 16:1771515:G:A 16 1771515 G A 16:1821516 0.891393 0.00137729 0 506 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paroxysmal tachycardia 8.31e-05 1.4783 0.3757 MRPS34 rs11552431 16:1773023:G:T 16 1773023 G T 16:1823024 0.992723 0.151839 8576 47208 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of conjunctiva 6.85e-05 -0.0743 0.0187 Childhood allergy (age < 16) 0.001668 0.253 0.081 EME2 rs61753375 16:1775981:C:T 16 1775981 C T 16:1825982 0.949914 2296 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Guillain-Barre syndrome 0.000634 2.9373 0.8597 Umbilical hernia 7.427e-05 9.497 2.397 NUBP2 rs111886912 16:1787990:C:T 16 1787990 C T 16:1837991 0.987219 4108 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified follicular disorders 0.000742 1.3645 0.4045 0.0005591 3.269 0.947 IGFALS rs182305760 16:1790982:C:T 16 1790982 C T 16:1840983 0.961241 874 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at lower leg level 0.000287 1.394 0.3844 Congenital musculoskeletal deformities of head, face, spine and chest 0.0003865 177.595 50.039 IGFALS rs35706152 16:1791558:G:A 16 1791558 G A 16:1841559 0.975502 1688 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic hypoglycemia 0.000258 0.7458 0.2041 Somnolence, stupor and coma 0.001136 74.77 22.975 IGFALS rs3751893 16:1792208:A:G 16 1792208 A G 16:1842209 0.994625 72175 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 0.000113 0.1661 0.043 Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 1.009e-05 0.12 0.027 MEIOB rs62617828 16:1853267:C:T 16 1853267 C T 16:1903268 0.965215 2137 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Occlusion and stenosis of arteries, not leading to stroke 0.000473 3.5149 1.0055 COPD related to chronic (opportunist) infections 0.001082 72.281 22.115 RPL3L rs140116056 16:1945588:C:T 16 1945588 C T 16:1995589 0.968386 252 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified enthesopathies of lower limb, excluding foot 0.000274 4.9661 1.3649 RPL3L rs147972626 16:1947063:G:A 16 1947063 G A 16:1997064 0.985314 0.0128475 78 4642 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atrial fibrillation and flutter with reimbursement 1.74e-11 0.6055 0.09 Atrial fibrillation and flutter with reimbursement 3.467e-05 1.47 0.355 RPL3L rs141796888 16:1947283:C:T 16 1947283 C T 16:1997284 0.933225 0.036158 506 12778 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other pleural conditions 5.36e-05 0.5572 0.1379 Other and unspecified injuries of lower leg 6.307e-05 3.419 0.855 GFER rs1046502 16:1985867:C:T 16 1985867 C T 16:2035868 0.995072 41832 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Meniscus derangement 0.000359 0.0799 0.0224 Chron's disease NAS 0.0001282 0.604 0.158 GFER rs36041021 16:1985906:T:C 16 1985906 T C 16:2035907 0.996459 0.144648 7680 45462 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Dementia due to Parkinsons disease 8.6e-05 0.5315 0.1353 Type 2 diabetes without complications 0.001311 -0.127 0.04 NTHL1 rs150766139 16:2046238:G:A 16 2046238 G A 16:2096239 0.993686 1552 pLoF recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Familial adenomatous polyposis 3;not provided Other bacterial diseases 0.000958 0.307 0.093 Leiomyoma of uterus 0 4.188 0 TSC2 rs137853994 16:2053391:A:T 16 2053391 A T 16:2103392 0.949074 613 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not specified Other enthesopathies 0.00122 0.935 0.2892 Seropositive rheumatoid arthritis, strict definition 0.001716 48.872 15.587 TSC2 rs45517103 16:2053484:C:T 16 2053484 C T 16:2103485 0.949193 0.0105093 46 3815 missense_variant dominant not provided not_provided no assertion provided none Tuberous sclerosis syndrome;not specified Fracture of lower leg, including ankle 5.73e-06 -0.3667 0.0808 Personal history of other diseases and conditions 0.001575 8.78 2.778 TSC2 rs766547457 16:2056753:G:A 16 2056753 G A 16:2106754 0.958269 251 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Focal brain injury 0.000479 4.3136 1.2353 TSC2 rs367963898 16:2060734:A:G 16 2060734 A G 16:2110735 0.938135 0.000492667 0 181 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute renal failure 9.93e-05 4.2816 1.1 TSC2 rs150195368 16:2060764:C:T 16 2060764 C T 16:2110765 0.980543 444 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Focal cortical dysplasia type II;Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;not specified Communicating hydrocephalus 0.000325 8.8409 2.4598 Persons encountering health services in other circumstances 0 6.724 0 TSC2 rs1800725 16:2060794:G:A 16 2060794 G A 16:2110795 0.9656 2764 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;not specified Bronchitis, not specified as acute or chronic 0.000162 0.9267 0.2457 Use of eye-antiallergens (taken as indicator of allergic/atopic conjunctivitis) 1.78e-05 4.476 1.043 TSC2 rs202187148 16:2062531:C:T 16 2062531 C T 16:2112532 0.945355 281 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Convalescence 0.00169 4.0968 1.3048 TSC2 rs45517171 16:2062997:A:G 16 2062997 A G 16:2112998 0.894707 0.000606988 0 223 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter ILD-related co-morbidities 1.27e-05 0.6798 0.1557 TSC2 rs1800729 16:2070486:G:A 16 2070486 G A 16:2120487 0.969786 242 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;not specified Type 1 diabetes, strict definition, subgroup 1 0.00101 4.2451 1.2915 Divergent concomitant strabismus 0.001978 44.679 14.443 TSC2 rs45517203 16:2070558:G:A 16 2070558 G A 16:2120559 0.985788 648 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;not specified Nutritional anaemias 0.00258 -0.7037 0.2335 Diseases of oesophagus, stomach and duodenum 5.254e-06 2.513 0.552 TSC2 rs45509392 16:2071609:G:A 16 2071609 G A 16:2121610 0.995706 688 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other congenital malformations of skin 0.00108 3.0273 0.9264 TSC2 rs397515223 16:2071810:A:C 16 2071810 A C 16:2121811 0.881147 797 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Drug-induced osteoporosis with pathological fracture 0.000421 8.0585 2.2849 TSC2 rs45517319 16:2083700:G:A 16 2083700 G A 16:2133701 0.947433 0.00260215 2 954 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of eyelid 2.85e-05 0.8726 0.2085 TSC2 rs45517323 16:2083797:G:A 16 2083797 G A 16:2133798 0.986322 0.0100275 30 3654 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;not specified Other diseases of the digestive system 1.59e-05 0.5433 0.1259 Alcohol dependence 0.0004693 3.239 0.926 TSC2 rs45517328 16:2084327:C:T 16 2084327 C T 16:2134328 0.95665 182 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormal spermatozoa 0.00213 4.8296 1.5725 TSC2 rs45474795 16:2084507:G:T 16 2084507 G T 16:2134508 0.99023 3912 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autism spectrum disorder;Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;not specified Hydronephrosis 0.000221 0.8107 0.2195 0.001486 1.123 0.354 TSC2 rs747613240 16:2084967:C:T 16 2084967 C T 16:2134968 0.967784 192 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Duodenal ulcer 0.00146 3.2783 1.0303 TSC2 rs1381384796 16:2084980:CCTT:C 16 2084980 CCTT C 16:2134981 0.964447 1847 inframe_indel dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Endometriosis of uterus 0.000435 0.8768 0.2492 Acute lymphadenitis 0.0001232 26.31 6.852 TSC2 rs45517387 16:2087923:TCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:T 16 2087923 TCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG T 16:2137924 0.911044 297 pLoF dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tuberous sclerosis syndrome Non-small cell lung cancer (other cancers excluded from controls) 0.000573 3.4667 1.0065 Polyarthropathies 1.311e-05 3.036 0.697 TSC2 rs45517419 16:2088545:G:A 16 2088545 G A 16:2138546 0.995018 2521 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Tuberous sclerosis 2;Tuberous sclerosis syndrome;not provided;not specified Sleep disorders 0.000909 0.7126 0.2148 Polymyalgia rheumatica 0.0016 6.257 1.983 PKD1 rs114251396 16:2089813:G:A 16 2089813 G A 16:2139814 0.98985 0.0143445 86 5184 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 1 diabetes with ophthalmic complications 9.3e-05 -0.5676 0.1452 Hypermetropia 0.0002068 7.994 2.155 PKD1 rs148478410 16:2090293:C:T 16 2090293 C T 16:2140294 0.976103 0.00551461 22 2004 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polycystic kidney disease, adult type;not provided;not specified Thyroiditis, unspecified 2.5e-05 3.997 0.9482 Carcinoma in situ of skin 0.001937 6.807 2.196 PKD1 rs3209986 16:2090553:G:A 16 2090553 G A 16:2140554 0.992624 0.140938 7322 44457 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sequelae of injuries of head 4.76e-05 0.3717 0.0914 Benign neoplasm of middle ear and respiratory system (other cancers excluded from controls) 0.0001031 0.555 0.143 PKD1 rs10960 16:2090679:T:C 16 2090679 T C 16:2140680 0.987607 63000 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coxarthrosis, 0.000122 -0.0842 0.0219 Benign neoplasm: Bronchus and lung 0.0005468 0.923 0.267 PKD1 rs34197769 16:2094175:G:A 16 2094175 G A 16:2144176 0.992117 0.141031 7394 44419 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sequelae of injuries of head 4.54e-05 0.3725 0.0913 Benign neoplasm of middle ear and respiratory system (other cancers excluded from controls) 0.0001256 0.544 0.142 PKD1 rs141946034 16:2094179:G:C 16 2094179 G C 16:2144180 0.884772 1018 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Kela-code for behavioural disturbances in mental retardation 0.000192 8.8714 2.3789 Haemorrhage from respiratory passages 0.0009631 5.349 1.62 PKD1 rs45478794 16:2094181:G:A 16 2094181 G A 16:2144182 0.960613 2309 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polycystic kidney disease, adult type;not provided;not specified Lumbosacral root disorders, not elsewhere classified 0.00101 2.3479 0.7143 Superficial injury of hip and thigh 0.0003768 15.205 4.276 PKD1 rs140189010 16:2097420:C:T 16 2097420 C T 16:2147421 0.924753 532 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Type 2 diabetes with coma 0.000307 1.9485 0.5398 Cholelithiasis, broad definition with cholecystitis 0 4.176 0 PKD1 rs148812376 16:2099955:G:A 16 2099955 G A 16:2149956 0.84632 166 missense_variant dominant Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Wegener granulomatosis 0.000135 18.8854 4.9488 PKD1 rs139945204 16:2100465:T:A 16 2100465 T A 16:2150466 0.914177 422 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of skin of upper limb, including shoulder 0.00058 12.0127 3.4911 PKD1 rs9925969 16:2102386:A:G 16 2102386 A G 16:2152387 0.986425 0.179263 11892 53967 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Reactive arthropathies 3.62e-05 -0.2287 0.0554 Death due to cardiac causes 0.002873 -0.124 0.042 PKD1 rs147788838 16:2103344:C:T 16 2103344 C T 16:2153345 0.849698 232 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Small cell lung cancer (other cancers excluded from controls) 0.00314 12.0842 4.0915 PKD1 rs149151043 16:2103617:C:T 16 2103617 C T 16:2153618 0.928981 5938 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other intracranial haemorrhages 0.000163 1.617 0.4288 Retinal breaks without detachment 3.254e-05 4.645 1.118 PKD1 rs144979397 16:2103764:G:A 16 2103764 G A 16:2153765 0.93148 741 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Polycystic kidney disease, adult type;not provided Endometriosis of intestine 0.000376 8.2261 2.3131 Ulcerative colitis 0.0007727 11.771 3.501 PKD1 rs199700485 16:2104530:G:T 16 2104530 G T 16:2154531 0.915178 168 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of vestibular function (Vertigo) 0.0011 1.6314 0.5 PKD1 rs147350387 16:2104536:G:A 16 2104536 G A 16:2154537 0.970684 0.0160648 98 5804 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other benign neoplasms of skin (other cancers excluded from controls) 8.99e-05 0.3298 0.0842 Other embolism and thrombosis 0.001287 3.955 1.229 PKD1 rs200509641 16:2104548:G:A 16 2104548 G A 16:2154549 0.934915 899 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lung diseases due to external agents 0.000429 1.5207 0.4318 PKD1 rs144557371 16:2104639:G:A 16 2104639 G A 16:2154640 0.962226 10445 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Acute alcohol intoxication 0.00083 -0.2478 0.0741 Dermatitis and eczema 6.248e-05 0.595 0.149 PKD1 rs200037070 16:2106158:G:A 16 2106158 G A 16:2156159 0.929352 1934 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Endometriosis of ovary 0.000475 0.7361 0.2107 Benign neoplasm: Middle ear, nasal cavity and accessory sinuses 0.00143 52.448 16.449 PKD1 rs376283361 16:2106458:G:A 16 2106458 G A 16:2156459 0.949102 1082 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperechogenic kidneys;Narrow chest;Polycystic kidney dysplasia;Talipes equinovarus;not provided;not specified Emotionally unstable personality disorder 0.000806 1.1165 0.3332 Pulmonary oedema 0.00034 209.452 58.462 PKD1 rs189277711 16:2108021:G:A 16 2108021 G A 16:2158022 0.947749 11612 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Urticaria 0.00149 -0.2081 0.0655 Desensitization to allergens 6.867e-05 4.127 1.037 PKD1 rs140869992 16:2108569:G:A 16 2108569 G A 16:2158570 0.912114 1649 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other intracranial haemorrhages 0.000267 3.07 0.8422 Benign neoplasm: Skin of upper limb, including shoulder 0.001567 54.136 17.121 PKD1 rs146096401 16:2108671:G:A 16 2108671 G A 16:2158672 0.978587 6276 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Sudden idiopathic hearing loss 0.00128 0.5551 0.1724 Presbycusis 0.0004669 3.521 1.006 PKD1 rs145217118 16:2108679:C:T 16 2108679 C T 16:2158680 0.98187 4291 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Extrapyramidal and movement disorders 0.00118 -0.3545 0.1093 Ventral hernia 9.797e-05 5.262 1.351 PKD1 rs144137200 16:2109556:C:T 16 2109556 C T 16:2159557 0.915351 450 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Erectile dysfunction 0.00034 3.2041 0.8942 PKD1 rs148164067 16:2110621:C:T 16 2110621 C T 16:2160622 0.988723 3500 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Strabismus 0.000228 0.4687 0.1272 4.136e-05 -3.255 0.794 PKD1 rs140980374 16:2110903:C:T 16 2110903 C T 16:2160904 0.95002 701 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of digestive organs 0.00069 0.892 0.2628 PKD1 rs116092985 16:2110972:A:G 16 2110972 A G 16:2160973 0.976018 0.0691803 1850 23566 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Injuries to the shoulder and upper arm 4.09e-05 0.1081 0.0264 Polyhydramnios 0.0009216 1.421 0.429 PKD1 rs143690392 16:2111149:G:A 16 2111149 G A 16:2161150 0.958179 1438 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Disorders of muscles 0.00207 1.127 0.3659 Spinal osteochondrosis 0.000424 158.77 45.045 PKD1 rs150710956 16:2111488:C:A 16 2111488 C A 16:2161489 0.963541 209 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Kidney (other cancers excluded from controls) 0.0014 8.5868 2.6876 PKD1 rs146887330 16:2111665:G:A 16 2111665 G A 16:2161666 0.961057 10544 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polycystic kidney disease, adult type;not provided;not specified Other diseases of appendix 0.000971 1.3514 0.4097 Labour and delivery complicated by fetal stress [distress] 0.0001783 1.568 0.418 PKD1 rs141625744 16:2111851:G:C 16 2111851 G C 16:2161852 0.928938 268 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lack of expected normal physiological development 0.000274 14.043 3.8596 PKD1 rs2549677 16:2112360:A:G 16 2112360 A G 16:2162361 0.975847 0.0691939 1850 23571 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polycystic kidney disease, adult type;not provided;not specified Injuries to the shoulder and upper arm 4.29e-05 0.1078 0.0264 Polyhydramnios 0.0009344 1.419 0.429 PKD1 rs550769703 16:2116900:G:A 16 2116900 G A 16:2166901 0.942734 241 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Excessive, freguent and irrelgular menstruation 0.000819 1.0403 0.3109 PKD1 rs765067070 16:2117875:G:C 16 2117875 G C 16:2167876 0.923098 384 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diseases of male genital organs 0.00231 -0.5796 0.1902 Interstitial lung disease endpoints 0 3.976 0 PKD1 rs199476099 16:2118021:C:A 16 2118021 C A 16:2168022 0.950581 2085 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Polycystic kidney disease, adult type;not provided Contracture of joint 0.000211 3.8265 1.0326 Other specific arthropathies 0.001121 74.418 22.84 CASKIN1 rs200142871 16:2181272:C:T 16 2181272 C T 16:2231273 0.92711 0.00161682 2 592 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Convergent concomitant strabismus 1.11e-05 3.916 0.8911 ECI1 rs145543160 16:2244548:C:T 16 2244548 C T 16:2294549 0.93365 0.00239801 8 873 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute otitis externa, noninfective 9.69e-05 5.8922 1.5115 Acute laryngitis and tracheitis 8.934e-05 20.015 5.109 ABCA3 rs146709251 16:2279070:G:A 16 2279070 G A 16:2329071 0.976531 5256 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other headache syndromes 0.000219 -0.2985 0.0808 Pleural effusion 1.312e-05 6.822 1.565 ABCA3 rs143929832 16:2295695:G:A 16 2295695 G A 16:2345696 0.972163 192 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute posthaemorrhagic anaemia 0.00142 8.5862 2.6906 ABCA3 rs45592239 16:2295708:G:A 16 2295708 G A 16:2345709 0.890121 203 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mixed specific developmental disorders 0.000473 16.4321 4.7011 ABCA3 rs148671332 16:2297467:G:A 16 2297467 G A 16:2347468 0.915029 214 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Postpartum haemorrhage 0.000821 2.2176 0.6629 ABCA3 rs141621969 16:2300114:G:T 16 2300114 G T 16:2350115 0.957232 211 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of digestive organs (other cancers excluded from controls) 0.001 1.8237 0.5543 ABCA3 rs149989682 16:2317763:T:A 16 2317763 T A 16:2367764 0.928268 373 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vaginitis/vulvovaginitis/vulvitis/abscess of vulva 0.000482 2.2177 0.6353 ABCA3 rs117603931 16:2319591:C:T 16 2319591 C T 16:2369592 0.984009 2430 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Presbycusis 0.000517 0.9596 0.2764 Malignant neoplasm, without specification of site (other cancers excluded from controls) 0.002001 45.232 14.638 ABCA3 rs143008553 16:2319615:C:T 16 2319615 C T 16:2369616 0.952709 843 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pulmonary Surfactant Metabolism Dysfunction, Recessive;not specified Other specified/unspecified bacterial intestinal infections 0.000122 2.556 0.6654 3.595e-05 -1.992 0.482 ABCA3 rs142977595 16:2324480:T:C 16 2324480 T C 16:2374481 0.987136 584 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the hip and thigh 0.000798 0.8577 0.2558 CCNF rs146438723 16:2448977:G:A 16 2448977 G A 16:2498978 0.959333 267 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 0.000286 1.9046 0.5251 CCNF rs118131564 16:2455489:T:A 16 2455489 T A 16:2505490 0.988998 14177 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectum, anus and anal canal 0.00111 -0.2831 0.0868 Cervical root disorders 0.000103 10.527 2.711 CCNF rs61755288 16:2456799:G:A 16 2456799 G A 16:2506800 0.979206 8686 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Femoral hernia, unilateral 0.000574 0.9694 0.2815 0.001358 -0.578 0.18 TBC1D24 rs202162520 16:2496317:C:T 16 2496317 C T 16:2546318 0.974687 475 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Osteoporosis with pathological fracture (FG) 0.000913 3.2343 0.9753 TBC1D24 rs72768728 16:2497033:C:G 16 2497033 C G 16:2547034 0.97406 488 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injury of muscle and tendon at wrist and hand level 0.000212 2.158 0.5826 TBC1D24 rs377448015 16:2500376:G:A 16 2500376 G A 16:2550377 0.870544 121 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Habitual aborter 0.00151 17.2812 5.4453 SRRM2 rs150235008 16:2760468:C:T 16 2760468 C T 16:2810469 0.920418 517 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Care involving dialysis 0.000182 2.8037 0.7491 Loose body in joint 0.0007131 113.771 33.615 SRRM2 rs12185191 16:2763095:C:G 16 2763095 C G 16:2813096 0.986189 2726 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy, childbirth and the puerperium 0.000543 -0.1977 0.0572 Intussusception 0.002323 40.883 13.424 SRRM2 rs72768765 16:2763635:G:C 16 2763635 G C 16:2813636 0.981087 0.00120581 4 439 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spontaneous rupture of synovium and tendon 8.21e-05 3.2858 0.8344 Pyogenic granuloma 0.0004527 164.604 46.932 SRRM2 rs72768766 16:2763951:C:G 16 2763951 C G 16:2813952 0.871205 828 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for examination and investigation 0.000526 -0.258 0.0744 Olecranon bursitis 0.002283 62.922 20.625 SRRM2 rs140421601 16:2764949:C:T 16 2764949 C T 16:2814950 0.99327 2094 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other articular cartilage disorders 0.000809 2.0228 0.6039 Other viral diseases 2.157e-05 15.364 3.617 SRRM2 rs138447860 16:2766518:G:A 16 2766518 G A 16:2816519 0.959644 484 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonitis due to solids and liquids 0.000166 3.7281 0.9898 SRRM2 rs117133016 16:2766626:G:C 16 2766626 G C 16:2816627 0.931315 0.006979 24 2540 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other complications of surgical and medical care, not elsewhere classified 9.54e-05 1.3595 0.3484 Other complications of surgical and medical care, not elsewhere classified 4.283e-06 25.254 5.494 IL32 rs145687578 16:3067606:G:A 16 3067606 G A 16:3117607 0.972931 3081 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Panniculitis, unspecified 0.000473 3.1372 0.8975 Counselling related to sexual attitude, behaviour and orientation 0.002069 43.147 14.008 IL32 rs141583132 16:3068238:C:T 16 3068238 C T 16:3118239 0.904453 421 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatitis and eczema 0.000153 -0.7903 0.2088 ZSCAN10 rs201495311 16:3089998:G:T 16 3089998 G T 16:3139999 0.96392 872 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nystagmus and other irregular eye movements 0.000551 6.9319 2.0065 Benign neoplasm: Parotid gland 0.001759 46.097 14.736 OR1F1 rs142486394 16:3204293:G:A 16 3204293 G A 16:3254293 0.990712 2680 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Hirschsprung disease 1 Anorexia (incl.atypical) 0.000659 1.0239 0.3006 Unspecified jaundice 6.48e-05 35.936 8.996 MEFV rs104895171 16:3243241:G:C 16 3243241 G C 16:3293241 0.988136 0.000909121 4 330 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial Mediterranean fever;not provided Acute epiglottitis 2.91e-05 17.3929 4.1606 Persons encountering health services in other circumstances 0 6.724 0 MEFV rs104895192 16:3243338:G:A 16 3243338 G A 16:3293338 0.992387 0.00556632 18 2027 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial Mediterranean fever Other and unspecified corneal deformities and disorders 5.94e-05 2.5879 0.6445 Mixed hyperlipidaemia 0.002142 44.091 14.363 MEFV rs104895094 16:3243403:T:C 16 3243403 T C 16:3293403 0.970324 6958 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Abnormality of the dentition;Cachexia;Familial Mediterranean fever;Familial Mediterranean fever;Familial mediterranean fever, autosomal dominant;Familial mediterranean fever, autosomal dominant;Inborn genetic diseases;Intermittent diarrhea;Peripheral neuropathy;Syncope;Urticaria;not provided;not specified Inflammatory bowel disease, strict (require KELA) 0.000709 -0.3515 0.1038 Myocardial infarction, strict 0.0005532 1.46 0.423 MEFV rs11466045 16:3243880:A:G 16 3243880 A G 16:3293880 0.987369 7504 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Familial Mediterranean fever;not provided;not specified Atrial fibrillation and flutter with reimbursement 0.000608 -0.2504 0.0731 Primary gonarthrosis, bilateral 5.495e-05 1.47 0.364 MEFV rs1231122 16:3243888:C:T 16 3243888 C T 16:3293888 0.999172 90546 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Total colectomy operation 0.000287 -0.2595 0.0715 Other gastritis (incl. Duodenitis) 0.0009264 -0.077 0.023 MEFV rs1231123 16:3243922:A:T 16 3243922 A T 16:3293922 0.999106 90538 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Total colectomy operation 0.000287 -0.2595 0.0715 Other gastritis (incl. Duodenitis) 0.0009419 -0.077 0.023 MEFV rs11466024 16:3249468:C:T 16 3249468 C T 16:3299468 0.990358 0.0144534 84 5226 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Familial Mediterranean fever;not provided;not specified Speech disturbances, not elsewhere classified 4.71e-05 0.9478 0.2329 All influenza 2.012e-05 3.923 0.92 MEFV rs11466023 16:3249586:G:A 16 3249586 G A 16:3299586 0.989715 0.0144371 86 5218 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Familial Mediterranean fever;not provided;not specified Speech disturbances, not elsewhere classified 4.71e-05 0.9477 0.2329 All influenza 2.76e-05 3.702 0.883 MEFV rs75977701 16:3254158:C:T 16 3254158 C T 16:3304158 0.988125 8070 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Familial Mediterranean fever;not provided;not specified Special screening examination for neoplasms 0.00104 0.7637 0.2329 Other cataract 0.002383 0.972 0.32 MEFV rs224222 16:3254463:C:T 16 3254463 C T 16:3304463 0.992859 81275 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Occlusion and stenosis of arteries, not leading to stroke 0.000806 0.419 0.1251 0.001753 0.111 0.036 MEFV rs104895179 16:3254482:C:A 16 3254482 C A 16:3304482 0.966174 347 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Adrenocortical insufficiency 0.00102 6.1945 1.8857 MEFV rs3743930 16:3254626:C:G 16 3254626 C G 16:3304626 0.92833 710 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Other and unspecified dermatitis 0.00109 0.6463 0.1979 SLX4 rs111738042 16:3582346:T:C 16 3582346 T C 16:3632347 0.974099 3206 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not provided;not specified Female infertility, associated with anovulation 0.00036 1.0351 0.2901 Other/unspecified disorders of vestibular function 7.115e-05 33.627 8.465 SLX4 rs77021998 16:3584860:G:A 16 3584860 G A 16:3634861 0.99454 1551 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not provided;not specified Status post-ami 0.000539 1.2947 0.3741 Congenital malformations of uterus and cervix 0.0006072 121.043 35.306 SLX4 rs141567438 16:3589377:T:A 16 3589377 T A 16:3639378 0.979066 0.000770303 0 283 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other enthesopathies 8.62e-05 1.7649 0.4495 SLX4 rs140051968 16:3589614:T:C 16 3589614 T C 16:3639615 0.996238 4621 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Haemorrhage, not elsewhere classified 0.000666 1.4986 0.4404 Injuries to the ankle and foot 0.002151 1.246 0.406 SLX4 rs112596894 16:3589770:G:T 16 3589770 G T 16:3639771 0.981886 3544 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Nontoxic single thyroid nodule 0.000643 0.861 0.2523 Psoriasis (vulgaris), strict definition 2.996e-05 50.75 12.159 SLX4 rs149011965 16:3589781:G:A 16 3589781 G A 16:3639782 0.995312 5607 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fanconi anemia Gonarthrosis [arthrosis of knee](FG) 0.000633 -0.1772 0.0518 Acute upper respiratory infections 0.0007343 0.869 0.257 SLX4 rs3810813 16:3589826:G:A 16 3589826 G A 16:3639827 0.992651 21954 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Type 2 diabetes without complications 0.000736 0.1086 0.0322 0.0002925 1.809 0.499 SLX4 rs3827530 16:3589976:G:A 16 3589976 G A 16:3639977 0.999461 0.0800788 2496 26924 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Hypothyroidism and >3 levothyroxin purchases 6.67e-05 -0.1105 0.0277 Amenorrhoea 0.0002787 0.845 0.232 SLX4 rs714181 16:3590273:G:A 16 3590273 G A 16:3640274 0.998728 30382 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism and >3 levothyroxin purchases 0.000821 -0.0874 0.0261 Amenorrhoea 6.297e-05 0.839 0.21 SLX4 rs78637028 16:3590783:G:A 16 3590783 G A 16:3640784 0.999325 0.0798175 2494 26830 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Hypothyroidism and >3 levothyroxin purchases 6.45e-05 -0.1109 0.0278 Amenorrhoea 0.0002788 0.844 0.232 SLX4 rs59939128 16:3590784:C:T 16 3590784 C T 16:3640785 0.999295 0.079823 2494 26832 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Hypothyroidism and >3 levothyroxin purchases 6.3e-05 -0.1111 0.0278 Amenorrhoea 0.0002788 0.844 0.232 SLX4 rs140600202 16:3591279:C:T 16 3591279 C T 16:3641280 0.985582 267 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Heartburn 0.000114 4.7358 1.2276 SLX4 rs77985244 16:3595606:A:G 16 3595606 A G 16:3645607 0.999286 0.0795426 2494 26729 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Hypothyroidism and >3 levothyroxin purchases 6.89e-05 -0.1106 0.0278 Amenorrhoea 0.0002819 0.843 0.232 SLX4 rs74319927 16:3597691:A:C 16 3597691 A C 16:3647692 0.999282 0.0797604 2492 26811 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Hypothyroidism and >3 levothyroxin purchases 5.81e-05 -0.1116 0.0278 Amenorrhoea 0.0002819 0.843 0.232 SLX4 rs113490934 16:3600986:T:C 16 3600986 T C 16:3650987 0.999422 0.0797495 2492 26807 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Hypothyroidism and >3 levothyroxin purchases 5.59e-05 -0.1119 0.0278 Amenorrhoea 0.000282 0.843 0.232 SLX4 rs138615800 16:3606524:C:T 16 3606524 C T 16:3656525 0.996095 0.00750161 44 2712 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not provided;not specified Von Willebrand disease 4.39e-05 4.2397 1.0377 Protozoal diseases 4.57e-05 44.594 10.939 SLX4 rs79842542 16:3606624:G:A 16 3606624 G A 16:3656625 0.999532 0.0797604 2490 26813 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Hypothyroidism and >3 levothyroxin purchases 4.7e-05 -0.113 0.0278 Amenorrhoea 0.0007516 0.769 0.228 SLX4 rs144832924 16:3608880:G:A 16 3608880 G A 16:3658881 0.985742 1450 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fanconi anemia Burns and corrosions of multiple and unspecified body regions 0.00139 2.8049 0.8774 Excessive vomiting in pregnancy 0.0008832 94.283 28.353 DNASE1 rs1053874 16:3657746:G:A 16 3657746 G A 16:3707747 0.999255 77225 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Chronic hepatitis, not elsewhere classified 0.000514 -0.2817 0.0811 Injury of nerves at wrist and hand level 8.669e-05 0.342 0.087 TRAP1 rs2791 16:3658169:C:T 16 3658169 C T 16:3708170 0.996992 12076 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria not provided Inguinal or femoral hernia, bilateral 0.00036 0.4218 0.1182 Tubulo-interstitial nephritis, not spesified as acute or chronic 0.0004176 2.274 0.645 TRAP1 rs144787542 16:3664437:C:T 16 3664437 C T 16:3714438 0.947658 4190 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Procreative management 0.000184 0.4568 0.1221 Other disorders of patella 8.153e-05 4.494 1.141 TRAP1 rs61756351 16:3666024:A:T 16 3666024 A T 16:3716025 0.948309 1006 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria not provided Femoral hernia 0.00103 2.1783 0.6634 CR(E)ST syndrome 0.000196 311.062 83.527 TRAP1 rs1136948 16:3671772:G:C 16 3671772 G C 16:3721773 0.992314 46407 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Injury of muscle and tendon at wrist and hand level 0.000729 -0.1661 0.0492 Other neurological diseases 1.984e-05 0.153 0.036 TRAP1 rs145715008 16:3674364:C:T 16 3674364 C T 16:3724365 0.985931 219 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Other abnormal immunological findings in serum 0.000538 13.4808 3.8948 0.0004197 177.452 50.307 TRAP1 rs13926 16:3674464:G:C 16 3674464 G C 16:3724465 0.997977 91504 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Systemic lupus erythematosus, unspecified 0.000309 -0.2817 0.0781 Other specified/unspecified bacterial intestinal infections 0.001501 -0.138 0.044 TRAP1 rs113476582 16:3676093:T:C 16 3676093 T C 16:3726094 0.99441 6727 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Tuberculosis 0.0015 0.56 0.1764 Atopic dermatitis, strict definition 0.001387 2.045 0.64 TRAP1 rs737260 16:3717472:G:A 16 3717472 G A 16:3767473 0.966472 24902 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria not provided Extrapyramidal and movement disorders 0.000597 -0.1582 0.0461 Diseases of the musculoskeletal system and connective tissue 1.337e-05 -0.16 0.037 CREBBP rs139688311 16:3728362:C:T 16 3728362 C T 16:3778363 0.972956 1045 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;not provided;not specified Disorders of lacrimal system and orbit in diseases classified elsewhere 0.000575 3.4809 1.011 Benign neoplasm: Colon (other cancers excluded from controls) 2.474e-10 7.933 1.253 CREBBP rs112906840 16:3729114:T:C 16 3729114 T C 16:3779115 0.939186 3318 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;not specified Other symptoms and signs involving the digestive system and abdomen 0.000892 0.5744 0.1729 Benign neoplasm: Stomach 5.585e-05 21.278 5.28 CREBBP rs559294915 16:3729300:A:G 16 3729300 A G 16:3779301 0.932485 0.00149978 4 547 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Sacroiliitis, not elsewhere classified 4.33e-05 4.8836 1.1943 Dorsalgia 0 5.22 0 CREBBP rs61753380 16:3769293:C:T 16 3769293 C T 16:3819294 0.892025 408 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-small cell lung cancer (other cancers excluded from controls) 0.000793 3.0214 0.9005 CREBBP rs143247685 16:3770722:T:C 16 3770722 T C 16:3820723 0.99311 3402 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Rubinstein-Taybi syndrome 1;not provided;not specified Other and unspecified diseases of blood and blood-forming organs 0.000766 2.0203 0.6004 Tongue abnormality 0.0002868 18.59 5.125 CREBBP rs61753381 16:3781229:G:T 16 3781229 G T 16:3831230 0.8564 439 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of the skin and subcutaneous tissue 0.000346 -0.4511 0.126 CREBBP rs146538907 16:3850637:G:A 16 3850637 G A 16:3900638 0.971774 406 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other shoulder lesions 0.00109 3.0272 0.9271 CREBBP rs55790011 16:3850712:G:C 16 3850712 G C 16:3900713 0.932656 386 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of nervous system 0.0023 3.4859 1.1433 ADCY9 rs144065949 16:4007514:G:A 16 4007514 G A 16:4057515 0.984976 1053 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylolisthesis/Spondylolysis 0.000227 1.1783 0.3196 Benign neoplasm: Colon (other cancers excluded from controls) 2.478e-10 7.933 1.254 ADCY9 rs52791170 16:4113753:T:G 16 4113753 T G 16:4163754 0.916551 0.00206866 4 756 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Reactive arthropathies, FINNGEN 3.37e-05 2.7658 0.667 GLIS2 rs72766563 16:4333397:G:T 16 4333397 G T 16:4383398 0.990931 18745 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;not specified Postmenopausal osteoporosis with pathological fracture 0.00121 0.4793 0.148 Other and unspecified diseases of blood and blood-forming organs 0.000882 3.217 0.967 GLIS2 rs140544340 16:4336959:C:T 16 4336959 C T 16:4386960 0.884263 156 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic urticaria 0.000959 16.3102 4.9391 GLIS2 rs8057701 16:4337423:A:G 16 4337423 A G 16:4387424 0.976673 7609 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;not specified Benign neoplasm: Colon 0.000441 -0.244 0.0694 Special screening examination for other diseases and disorders 0.0002179 3.144 0.85 C16orf96 rs185475621 16:4575930:C:T 16 4575930 C T 16:4625931 0.957838 4941 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emotional disorders starting during childhood or adolecense 0.00066 0.9362 0.2749 Mixed hyperlipidaemia 0.0004668 14.124 4.037 ANKS3 rs62036061 16:4724821:A:C 16 4724821 A C 16:4774822 0.988665 503 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Torsion of testis 0.000333 5.9421 1.6561 ROGDI rs138409264 16:4797823:C:T 16 4797823 C T 16:4847824 0.994226 4522 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Kohlschutter's syndrome;not provided Alcoholic liver disease 0.000561 0.6942 0.2012 Chronic gastritis 0.0004165 3.613 1.024 ROGDI rs150687774 16:4798578:G:A 16 4798578 G A 16:4848579 0.97373 1545 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Kohlschutter's syndrome;not provided Abnormal blood-pressure reading, without diagnosis 0.00127 2.2566 0.7003 Benign neoplasm: Colon (other cancers excluded from controls) 4.12e-09 8.826 1.501 ROGDI rs114103417 16:4798682:G:A 16 4798682 G A 16:4848683 0.954042 2464 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kohlschutter's syndrome;not specified Tongue abnormality 0.000393 1.4053 0.3964 Other and unspecified injuries of thorax 0.001432 62.642 19.649 PPL rs12446946 16:4885060:C:G 16 4885060 C G 16:4935061 0.97453 2046 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diverticular disease of intestine 0.000141 -0.3948 0.1037 Secondary malignant neoplasm of other and unspecified sites (other cancers excluded from controls) 0.001851 49.628 15.941 PPL rs143980531 16:4902486:T:G 16 4902486 T G 16:4952487 0.968863 454 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecidied mood [affective] disorders 0.000155 3.1361 0.8291 NAGPA rs7188856 16:5025632:G:A 16 5025632 G A 16:5075633 0.992527 90641 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Speech and linguistic disorders (more controls excluded) 0.000369 -0.1876 0.0527 Other and unspecified dermatitis 0.0002959 0.052 0.014 ALG1 rs145474820 16:5072040:C:A 16 5072040 C A 16:5122041 0.947987 194 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postprocedural musculoskeletal disorders, not elsewhere classified 0.00122 5.8762 1.8167 ALG1 rs17849848 16:5078816:G:A 16 5078816 G A 16:5128817 0.971504 27604 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation type 1K;not specified Carcinoma in situ of skin of lower limb, including hip (other cancers excluded from controls) 0.00105 0.8054 0.2459 Other and/or unspecified nontoxic goitre 0.0002953 0.763 0.211 ALG1 rs201975029 16:5078843:G:A 16 5078843 G A 16:5128844 0.873881 667 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Endovascular or surgical operations to intracerebral aneurysms 0.000249 3.4026 0.9289 ALG1 rs9745522 16:5084773:T:A 16 5084773 T A 16:5134774 0.971807 39471 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Prepatellar bursitis 0.000581 -0.3431 0.0997 4.298e-05 0.411 0.101 ABAT rs1731017 16:8746097:A:G 16 8746097 A G 16:8839954 0.993136 84231 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melanocytic naevi of trunk (other cancers excluded from controls) 0.000288 0.1665 0.0459 Hypokalaemia 0.0002867 0.118 0.033 ABAT rs149271402 16:8768230:T:C 16 8768230 T C 16:8862087 0.977813 1237 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Gamma-aminobutyric acid transaminase deficiency;not specified Hypertensive diseases 0.000152 -0.3303 0.0872 Postydysenteric arthropathy 0.0001678 397.013 105.502 TMEM186 rs147436106 16:8797614:T:C 16 8797614 T C 16:8891471 0.98985 6336 start_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative proctitis 0.000746 -0.7325 0.2172 Spermatocele 0.0009276 4.654 1.405 PMM2 rs201556985 16:8801822:C:G 16 8801822 C G 16:8895679 0.995598 542 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;not provided;not specified Nonorganic sleeping disorders (more controls excluded) 0.000825 1.8646 0.5576 Divergent concomitant strabismus 0.003275 29.065 9.884 PMM2 rs28936415 16:8811153:G:A 16 8811153 G A 16:8905010 0.998016 2533 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other neurotic disorders 0.00153 1.0164 0.3206 PMM2 rs34258285 16:8813057:A:C 16 8813057 A C 16:8906914 0.997283 0.0495879 1004 17214 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carbohydrate-deficient glycoprotein syndrome type I;Congenital disorder of glycosylation;not specified Other disorders of fluid, electrolyte and acid-base balance 6.87e-05 0.2415 0.0607 Dissociative [conversion] disorders 0.0002841 1.958 0.539 GRIN2A rs61758995 16:9764316:G:T 16 9764316 G T 16:9858173 0.983089 1297 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, focal, with speech disorder and with or without mental retardation;History of neurodevelopmental disorder;not provided;not specified Statin medication 0.000292 -0.2948 0.0814 Synovial hypertrophy, not elsewhere classified 0.0006411 123.12 36.068 GRIN2A rs138809301 16:9764354:T:C 16 9764354 T C 16:9858211 0.974669 145 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of ankle and foot 0.000538 5.334 1.5411 GRIN2A rs61731465 16:9764645:C:G 16 9764645 C G 16:9858502 0.995191 0.00420264 10 1534 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, focal, with speech disorder and with or without mental retardation;History of neurodevelopmental disorder;not provided;not specified Other prurigo 8.34e-06 7.6944 1.7267 Other surgical follow-up care 0.001181 73.817 22.759 GRIN2A rs139795367 16:9764692:C:A 16 9764692 C A 16:9858549 0.988801 1080 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, focal, with speech disorder and with or without mental retardation;not specified Hypo-osmolality and hyponatraemia 0.000107 1.3516 0.3489 0 2.683 0 GRIN2A rs78631453 16:9938544:G:A 16 9938544 G A 16:10032401 0.950512 118 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Panic disorder 0.00076 4.8253 1.4331 GRIN2A rs146839931 16:10180329:T:G 16 10180329 T G 16:10274186 0.965761 486 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter CR(E)ST syndrome 0.00304 6.7226 2.2684 CIITA rs2229317 16:10895362:C:G 16 10895362 C G 16:10989219 0.980013 7708 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bare lymphocyte syndrome 2 Other arterial embolism and thrombosis 0.000293 1.203 0.3322 Presence of other functional implants 0.0001427 1.414 0.372 CIITA rs149253747 16:10895755:G:A 16 10895755 G A 16:10989612 0.946937 194 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter In situ neoplasms (other cancers excluded from controls) 0.000661 2.5117 0.7376 CIITA rs141202424 16:10906953:C:G 16 10906953 C G 16:11000810 0.988865 3691 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyroiditis, unspecified 0.00061 2.1379 0.6238 Epidural haemorrhage 0.002571 38.416 12.742 CIITA rs4774 16:10906991:G:C 16 10906991 G C 16:11000848 0.997005 68097 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter ILD, hospital admissions 1, main diag only 0.000132 -0.1813 0.0474 Headache 5.026e-05 -0.09 0.022 CIITA rs78108426 16:10907564:C:A 16 10907564 C A 16:11001421 0.980888 2169 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bare lymphocyte syndrome 2;not specified Dissocial personality disorder 0.00153 2.1334 0.6732 Drug-induced osteoporosis with pathological fracture 0.0003916 185.342 52.272 CIITA rs13330686 16:10907834:C:T 16 10907834 C T 16:11001691 0.988704 24147 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bare lymphocyte syndrome 2;not specified Psychiatric diseases 0.00104 -0.0576 0.0176 Other overlap syndromes 0.0008277 2.265 0.677 CIITA rs13336804 16:10907837:T:C 16 10907837 T C 16:11001694 0.988988 24163 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bare lymphocyte syndrome 2;not specified Psychiatric diseases 0.00111 -0.0573 0.0176 Other overlap syndromes 0.0008282 2.264 0.677 CLEC16A rs74163614 16:11020313:C:T 16 11020313 C T 16:11114170 0.965338 0.00979074 36 3561 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aphakia 4.42e-05 2.6391 0.6462 Abnormal findings on antenatal screening of mother 0.0005887 11.75 3.419 CLEC16A rs72650687 16:11166421:G:A 16 11166421 G A 16:11260278 0.974849 95 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Valvular heart disease including rheumatic fever 0.00134 -1.0705 0.3337 CLEC16A rs72650689 16:11178473:G:A 16 11178473 G A 16:11272330 0.935456 1223 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma/COPD (KELA code 203) 0.00148 0.3791 0.1193 Congenital malformations of the respiratory system 0.0007541 105.896 31.431 SOCS1 rs11549428 16:11254849:C:G 16 11254849 C G 16:11348706 0.929055 883 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol use disorder, Swedish definition 0.00074 0.5924 0.1756 LITAF rs149712652 16:11549538:G:A 16 11549538 G A 16:11643394 0.89637 0.000960837 0 353 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myeloid leukaemia 2.25e-05 11.7608 2.7747 LITAF rs61617938 16:11551770:T:C 16 11551770 T C 16:11645626 0.847509 227 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteoporosis 0.00196 1.9607 0.6332 LITAF rs57456743 16:11551773:G:A 16 11551773 G A 16:11645629 0.847409 227 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteoporosis 0.00196 1.9605 0.6332 LITAF rs4280262 16:11553636:T:C 16 11553636 T C 16:11647492 0.983982 58903 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholangitis (primary sclerosing, PSC) 0.000637 0.2624 0.0768 Isolated proteinuria with specified morphological lesion 0.0005803 0.542 0.158 LITAF rs3743582 16:11556469:G:A 16 11556469 G A 16:11650325 0.999963 0.424897 66572 89530 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of other and unspecified parts of face (other cancers excluded from controls) 7.96e-05 -0.155 0.0393 Post-traumatic stress disorder 0.0004952 0.165 0.047 LITAF rs200702853 16:11556699:G:A 16 11556699 G A 16:11650555 0.829945 456 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of meninges 0.000458 4.2402 1.2101 TXNDC11 rs79362431 16:11687885:G:C 16 11687885 G C 16:11781741 0.963118 751 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other general symptoms and signs 0.00194 3.1157 1.0053 ERCC4 rs61760160 16:13920181:C:T 16 13920181 C T 16:14014038 0.931399 181 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Early onset COPD 0.000193 2.86 0.7673 ERCC4 rs1800067 16:13935176:G:A 16 13935176 G A 16:14029033 0.996652 14221 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Xeroderma pigmentosum;not specified Vitreous bleeding (caused by prolif. dmrp when together with H36.03*) 0.000471 -0.4079 0.1166 Other and unspecified visual disturbances 5.331e-05 2.76 0.683 ERCC4 rs2020955 16:13944802:T:C 16 13944802 T C 16:14038659 0.95284 235 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular pucker 0.000278 3.9777 1.0943 ERCC4 rs1800124 16:13948220:A:G 16 13948220 A G 16:14042077 0.988746 7162 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cockayne syndrome;Fanconi anemia, complementation group Q;Hereditary cancer-predisposing syndrome;Xeroderma pigmentosum, group F;not provided;not specified Hypertension complicating pregnancy, childbirth, and the puerperium 0.00133 0.2236 0.0697 Superficial injuries involving multiple body regions 0.000568 14.064 4.081 MKL2 rs113935526 16:14245640:T:C 16 14245640 T C 16:14339497 0.928017 0.00356571 8 1302 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autoimmune thyroiditis 4.62e-05 4.7352 1.1623 !Aliquae complicationes praecoces traumatis 7.218e-06 75.628 16.854 MKL2 rs201311229 16:14247199:T:C 16 14247199 T C 16:14341056 0.988823 0.00872647 36 3170 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Faecal incontinence 3.24e-05 1.1814 0.2842 Other medical care 0.0004786 5.973 1.71 PARN rs35722504 16:14447062:C:T 16 14447062 C T 16:14540919 0.967503 0.00254772 6 930 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4;not specified Carcinoma in situ of breast 8.63e-05 2.4678 0.6285 Other diseases of arteries and capillaries 0.002079 44.9 14.584 PARN rs201782700 16:14555675:G:C 16 14555675 G C 16:14649532 0.970838 170 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypertensive diseases (excluding secondary) 0.00224 0.7932 0.2595 RRN3 rs151006368 16:15091329:C:T 16 15091329 C T 16:15185186 0.973505 3861 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperfunction of pituitary gland 0.000193 1.15 0.3085 Benign neoplasm of other and ill-defined parts of digestive system 0.0008513 4.886 1.465 NDE1 rs113493697 16:15691192:C:T 16 15691192 C T 16:15785049 0.965504 2994 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Benign neoplasm of middle ear and respiratory system 0.000634 1.0418 0.3049 Undescended testicle 0.0006458 113.618 33.303 NDE1 rs17283846 16:15696750:C:T 16 15696750 C T 16:15790607 0.992445 11183 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lissencephaly, Recessive;not specified Presbyopia 0.000496 0.7342 0.2108 Other and unspecified disorders involving the immune mechanism, not elsewhere classified 0.001741 4.012 1.281 MYH11 rs113964173 16:15715019:C:G 16 15715019 C G 16:15808876 0.986212 2095 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;not provided;not specified Hydrocephalus 0.000654 1.5817 0.4641 Autism spe (more controls excluded) 0.0003999 159.529 45.063 MYH11 rs138206921 16:15715060:C:T 16 15715060 C T 16:15808917 0.95102 664 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Lactose intolerance, other/unspecified 0.00142 3.758 1.1779 MYH11 rs201960644 16:15717308:G:A 16 15717308 G A 16:15811165 0.998201 1597 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not specified Femoral hernia, unilateral 0.000453 2.4682 0.7038 Pleural plaque 0.0001034 6.595 1.699 MYH11 rs111854563 16:15720957:G:A 16 15720957 G A 16:15814814 0.9878 612 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;Thoracic aortic aneurysm and aortic dissection;not provided;not specified Polyarthropathies 0.00012 0.6777 0.1762 Injury of nerves and spinal cord at neck level 0.0006179 124.167 36.268 MYH11 rs137934837 16:15721026:C:T 16 15721026 C T 16:15814883 0.866256 0.000470892 2 171 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diabetes, varying definitions 4.14e-05 1.0613 0.2589 MYH11 rs150033906 16:15724790:G:C 16 15724790 G C 16:15818647 0.993562 0.00394678 8 1442 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;not specified Chronic suppurative otitis media 3.91e-05 2.7446 0.6674 Other symptoms and signs involving cognitive functions and awareness 0.0002683 16.835 4.62 MYH11 rs16967510 16:15724985:A:G 16 15724985 A G 16:15818842 0.999479 7248 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aortic aneurysm, familial thoracic 4;Cardiovascular phenotype;Lissencephaly, Recessive;Thoracic aortic aneurysm and aortic dissection;not provided;not specified Other disorders of bone density and structure 0.00115 1.0559 0.3248 Coxarthrosis, 0.001165 1.119 0.345 MYH11 rs16967494 16:15727006:C:T 16 15727006 C T 16:15820863 0.999334 70692 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ischaemic heart disease, wide definition 0.000205 0.0509 0.0137 Ischaemic heart disease, wide definition 0.0003334 0.061 0.017 MYH11 rs200315340 16:15737546:C:T 16 15737546 C T 16:15831403 0.988238 0.00756149 32 2746 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thoracic aortic aneurysm and aortic dissection Leiomyoma of uterus (other cancers excluded from controls) 9.81e-06 0.3698 0.0836 Other diseases of oesophagus 0.001319 8.972 2.794 MYH11 rs201991156 16:15750325:C:T 16 15750325 C T 16:15844182 0.977593 0.00801877 34 2912 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Thoracic aortic aneurysm and aortic dissection;not specified Leiomyoma of uterus (other cancers excluded from controls) 1.92e-05 0.3518 0.0823 Other diseases of oesophagus 0.001077 9.816 3.002 MYH11 rs111936548 16:15756358:T:C 16 15756358 T C 16:15850215 0.954652 0.0015025 0 552 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autism spe (more controls excluded) 5.13e-05 7.9842 1.9715 MYH11 rs150759461 16:15778831:G:A 16 15778831 G A 16:15872688 0.994015 1468 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Altered myosin contractile function;Aortic aneurysm, familial thoracic 4;Connective tissue disorder;Inborn genetic diseases;Loeys-Dietz syndrome;not specified Labour and delivery complicated by umbilical cord complications 0.000285 2.6741 0.7369 0 2.95 0 MYH11 rs766315580 16:15798682:C:T 16 15798682 C T 16:15892539 0.836285 194 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myocardial infarction 0.00142 1.2772 0.4002 ABCC1 rs60782127 16:16048222:G:T 16 16048222 G T 16:16142079 0.991958 4585 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Vitreous haemorrhage 0.000204 0.7667 0.2064 Vitreous haemorrhage 7.208e-06 10.708 2.386 ABCC1 rs4148356 16:16083418:G:A 16 16083418 G A 16:16177275 0.999 6858 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Familial cancer of breast Type 1 diabetes with peripheral circulatory complications 0.000705 1.067 0.3149 Certain zoonotic bacterial diseases 1.623e-05 19.315 4.48 ABCC6 rs2238472 16:16157742:C:T 16 16157742 C T 16:16251599 0.999787 82289 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peripheral artery disease 0.000391 -0.0786 0.0222 0.0002485 -0.148 0.041 ABCC6 rs375983928 16:16161455:CAG:C 16 16161455 CAG C 16:16255312 0.90403 129 pLoF both Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (Late onset) 0.000422 5.028 1.426 ABCC6 rs72653706 16:16163078:G:A 16 16163078 G A 16:16256935 0.983548 0.00243884 0 896 pLoF both Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecidied mood [affective] disorders 4.31e-05 2.429 0.5939 ABCC6 rs41278174 16:16165739:G:A 16 16165739 G A 16:16259596 0.997495 11671 missense_variant both Conflicting interpretations of pathogenicity Conflicting no assertion criteria provided no_Criteria Pseudoxanthoma elasticum Type 1 diabetes with other specified/multiple/unspecified complications 0.000722 -0.2851 0.0843 Other medical care 0.0004091 1.244 0.352 ABCC6 rs61340537 16:16169805:G:T 16 16169805 G T 16:16263662 0.985903 11047 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pseudoxanthoma elasticum;not specified Postydysenteric arthropathy 0.0021 1.2829 0.417 Diabetes mellitus in pregnancy 0.0008616 0.922 0.277 ABCC6 rs61731973 16:16173290:G:A 16 16173290 G A 16:16267147 0.836236 81 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of orbit 0.000258 15.0586 4.1212 ABCC6 rs115379860 16:16175949:G:T 16 16175949 G T 16:16269806 0.970265 556 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis,primary 0.000575 0.5859 0.1702 Disorders of brain, other and unspecified 0.0002047 340.576 91.722 ABCC6 rs59593133 16:16182435:T:C 16 16182435 T C 16:16276292 0.997815 691 missense_variant both Benign (likely)Benign no assertion criteria provided no_Criteria Femoral hernia, unilateral 0.00157 4.1077 1.299 ABCC6 rs58073789 16:16182488:C:T 16 16182488 C T 16:16276345 0.998996 723 missense_variant both Benign (likely)Benign no assertion criteria provided no_Criteria Non-small cell lung cancer, adenocarcinoma (other cancers excluded from controls) 0.00183 2.668 0.8559 ABCC6 rs8058694 16:16185006:G:T 16 16185006 G T 16:16278863 0.999732 91043 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contraceptive management 0.00102 -0.0494 0.015 Systemic sclerosis 0.0005526 -0.286 0.083 ABCC6 rs12931472 16:16187150:A:G 16 16187150 A G 16:16281007 0.99973 91175 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contraceptive management 0.000164 -0.0567 0.015 Other orthopaedic follow-up care 0.0007527 0.154 0.046 ABCC6 rs72653762 16:16202006:T:C 16 16202006 T C 16:16295863 0.961627 1841 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Pseudoxanthoma elasticum;not provided;not specified Gonarthrosis,primary 0.000333 -0.3346 0.0933 Other extrapyramidal and movement disorders+ in other diseases 0.0006751 15.738 4.63 ABCC6 rs72657698 16:16208729:T:C 16 16208729 T C 16:16302586 0.933615 0.0494028 952 17198 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Pseudoxanthoma elasticum;not provided Other disorders of eyelid 9.36e-05 -0.1935 0.0495 Allergic conjunctivitis 0.0002917 -0.477 0.132 XYLT1 rs146414934 16:17138377:G:A 16 17138377 G A 16:17232234 0.955188 230 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conjunctivitis (acute, non atopic) 0.000163 2.1785 0.5779 XYLT1 rs36098987 16:17198347:G:A 16 17198347 G A 16:17292204 0.987929 0.00114593 2 419 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Achalasia of cardia 2.64e-05 11.0184 2.6221 XYLT1 rs61758388 16:17470454:C:A 16 17470454 C A 16:17564311 0.966778 0.00958387 62 3459 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peritonsillar abscess 5.04e-05 0.5738 0.1415 Mixed disorders of conduct and emotions (more controls excluded) 0.0024 39.175 12.905 SMG1 rs137863609 16:18863720:C:A 16 18863720 C A 16:18875042 0.938365 11646 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supervision of high-risk pregnancy 0.00117 -0.1731 0.0533 Benign neoplasm: Short bones of upper limb (other cancers excluded from controls) 8.197e-05 8.921 2.265 SMG1 rs190057031 16:18926008:T:C 16 18926008 T C 16:18937330 0.928786 0.00402299 14 1464 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Impingement syndrome of shoulder 2.54e-06 0.9396 0.1997 Portal vein thrombosis 0.0005889 115.895 33.723 COQ7 rs138730205 16:19071978:G:C 16 19071978 G C 16:19083300 0.958794 10754 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of adrenal gland 0.000284 -0.8278 0.2281 Injury of intra-abdominal organs 0.001128 4.675 1.436 COQ7 rs11074359 16:19073976:C:T 16 19073976 C T 16:19085298 0.996644 80923 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitreous bleeding (caused by prolif. dmrp when together with H36.03*) 0.000851 -0.1603 0.048 Other complications of labour and delivery, not elsewhere classified 0.0001766 0.134 0.036 CCP110 rs3751821 16:19536181:C:T 16 19536181 C T 16:19547503 0.999807 23417 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm of ovary (other cancers excluded from controls) 0.000437 0.2083 0.0592 Maternal care for known or suspected abnormality of pelvic organs 8.898e-05 0.589 0.15 CCP110 rs226891 16:19536425:C:G 16 19536425 C G 16:19547747 0.996251 31826 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psoriasis 0.000861 0.144 0.0432 Visual impairment including blindness (binocular or monocular) 0.001003 0.165 0.05 CCP110 rs7190666 16:19536794:G:A 16 19536794 G A 16:19548116 0.999692 38279 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postprocedural disorders of nervous system 0.000378 -0.2785 0.0783 Injury of nerves at lower leg level 5.455e-05 2.285 0.566 CCP110 rs78180055 16:19537348:C:T 16 19537348 C T 16:19548670 0.994886 5189 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiac murmurs and other cardiac sounds 0.000148 0.72 0.1897 Other congenital malformations of circulatory system 0.0004715 15.468 4.424 IQCK rs146166275 16:19718307:A:C 16 19718307 A C 16:19729629 0.984805 1938 start_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Kidney 0.000432 2.4854 0.7062 Kela-code for behavioural disturbances in mental retardation 0.0008693 94.066 28.25 IQCK rs149444739 16:19764081:A:C 16 19764081 A C 16:19775403 0.973986 2109 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to cannabinoids 0.000175 2.1872 0.5828 Female infertility, cervigal, vaginal, other or unspecified origin 0.0004785 4.848 1.388 UMOD rs143583842 16:20341262:G:A 16 20341262 G A 16:20352584 0.989874 345 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormalities of breathing 0.00219 -0.5876 0.1918 UMOD rs55772253 16:20341296:C:A 16 20341296 C A 16:20352618 0.994766 4231 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial juvenile gout;Medullary cystic kidney disease 2;Uromodulin-associated kidney disease;not specified Non-small cell lung cancer, squamous (other cancers excluded from controls) 0.000227 1.6789 0.4554 Other and unspecified visual disturbances 0.0007254 12.245 3.623 UMOD rs764637746 16:20350750:TC:T 16 20350750 TC T 16:20362072 0.986799 923 pLoF dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Uromodulin-associated kidney disease Hepatomegaly and splenomegaly, not elsewhere classified 0.000605 7.2391 2.111 Dysphagia 0.0005759 11.028 3.203 UMOD rs75645968 16:20350784:A:G 16 20350784 A G 16:20362106 0.996618 2165 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Uromodulin-associated kidney disease;not specified Acute pharyngitis 0.000657 0.8119 0.2383 Sequelae of injuries of head 0.0001991 22.265 5.985 UMOD rs79245268 16:20350793:C:T 16 20350793 C T 16:20362115 0.987752 668 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes with coma 0.000394 1.4119 0.3984 ACSM5 rs12931877 16:20429755:A:G 16 20429755 A G 16:20441077 0.99621 30436 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute upper respiratory infections of multiple and unspecified sites 0.0012 -0.0723 0.0223 Malignant neoplasm of bladder (other cancers excluded from controls) 0.0002788 0.798 0.22 ACSM5 rs148243446 16:20431024:A:C 16 20431024 A C 16:20442346 0.851029 284 missense_variant unknown not provided not_provided no assertion provided none Mesothelioma 0.000298 15.8158 4.3721 DNAH3 rs147732992 16:20952510:C:T 16 20952510 C T 16:20963832 0.935983 455 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fever of other and unknown origin 0.00111 -0.8801 0.2699 DNAH3 rs34121503 16:20959254:G:T 16 20959254 G T 16:20970576 0.987679 367 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hepatic failure, not elsewhere classified 0.000193 6.899 1.8504 DNAH3 rs111539520 16:20963418:C:T 16 20963418 C T 16:20974740 0.985854 0.0135361 110 4863 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Medical abortion 4.36e-05 0.3024 0.074 Other reactioin to severe stress, and adjustment disorders 0.000708 1.588 0.469 DNAH3 rs330150 16:21039887:G:C 16 21039887 G C 16:21051209 0.999308 29809 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Pituitary gland, craniopharyngeal duct 0.000256 0.4064 0.1111 Conductive and sensorineural hearing loss 2.209e-05 0.221 0.052 OTOA rs78970023 16:21678558:T:A 16 21678558 T A 16:21689879 0.988134 4944 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Open wound of shoulder and upper arm 0.00357 1.4869 0.5103 Hypertensive Renal Disease 0.0006513 12.437 3.648 OTOA rs142850013 16:21687618:G:C 16 21687618 G C 16:21698939 0.930835 0.000819297 0 301 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of thorax 1.02e-05 12.9973 2.9456 OTOA rs150415498 16:21716940:G:A 16 21716940 G A 16:21728261 0.98415 2087 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Cystic kidney disease 0.00045 1.8797 0.5357 Other general symptoms and signs 0.001088 85.545 26.188 UQCRC2 rs4850 16:21965441:G:A 16 21965441 G A 16:21976762 0.987372 20409 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Neuromuscular dysfuntion of bladder 0.000228 0.3693 0.1002 0.0004217 3.998 1.134 UQCRC2 rs146974535 16:21972109:A:C 16 21972109 A C 16:21983430 0.963583 360 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crushing injury of wrist and hand 0.000945 9.9515 3.0096 UQCRC2 rs7282 16:21983090:G:A 16 21983090 G A 16:21994411 0.995181 24297 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Benign neoplasm: Anus and anal canal 0.000237 0.618 0.1681 Benign neoplasm: Liver/bile ducts 0.0002913 2.43 0.671 SCNN1G rs5738 16:23189642:G:A 16 23189642 G A 16:23200963 0.980005 405 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Episcleritis 0.000534 4.2305 1.2215 SCNN1G rs144653364 16:23214768:T:C 16 23214768 T C 16:23226089 0.953927 0.00264843 8 965 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bronchiectasis with or without elevated sweat chloride 3;LIDDLE SYNDROME 2;Pseudohypoaldosteronism type 1 autosomal recessive;not provided Other specified disorders of external ear 8.6e-05 3.7164 0.9464 Biomechanical lesions, not elsewhere classified 0.001348 63.683 19.867 SCNN1G rs148985177 16:23215108:A:G 16 23215108 A G 16:23226429 0.982866 281 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contracture of joint 0.000588 11.7786 3.4268 SCNN1B rs35731153 16:23348844:C:G 16 23348844 C G 16:23360165 0.994384 1635 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Bronchiectasis with or without elevated sweat chloride 1;not provided;not specified Helminthiases 0.000207 3.6366 0.98 Other meningitis 9.804e-07 240.123 49.05 SCNN1B rs139310448 16:23352955:C:T 16 23352955 C T 16:23364276 0.962447 322 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified diseases of blood and blood-forming organs 0.00021 10.1586 2.7408 SCNN1B rs61759926 16:23380643:G:A 16 23380643 G A 16:23391964 0.986119 3052 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bronchiectasis with or without elevated sweat chloride 1;Pseudohypoaldosteronism type 1 autosomal recessive;Pseudoprimary hyperaldosteronism;not specified Diabetes insipidus 0.000185 3.2305 0.8641 Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 7.148e-05 32.288 8.13 COG7 rs16940094 16:23398119:G:A 16 23398119 G A 16:23409440 0.994889 9092 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation;not specified Unspecified abortion 0.0029 0.5504 0.1848 Other diseases of anus and rectum 0.0005895 1.449 0.422 COG7 rs143639857 16:23403779:C:T 16 23403779 C T 16:23415100 0.981916 1651 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary coxarthrosis, bilateral 0.000141 0.7778 0.2043 Torticollis 0.0005669 138.058 40.052 EARS2 rs75133940 16:23525210:C:T 16 23525210 C T 16:23536531 0.961799 41612 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, strict (exclude DM2) 0.00169 0.1531 0.0488 Tibial collateral bursitis [Pellegrini-Stieda] 0.0004566 1.562 0.446 EARS2 rs6497671 16:23525363:T:C 16 23525363 T C 16:23536684 0.997473 61776 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Residual foreign body in soft tissue 0.000342 0.2684 0.0749 Residual foreign body in soft tissue 0.0002551 0.164 0.045 EARS2 rs113722817 16:23557328:T:C 16 23557328 T C 16:23568649 0.978287 0.00184818 4 675 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postydysenteric arthropathy 1.5e-05 12.2546 2.8307 PALB2 rs45551636 16:23622972:C:T 16 23622972 C T 16:23634293 0.998995 6245 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial cancer of breast;Fanconi anemia;Hereditary cancer-predisposing syndrome;Pancreatic cancer 3;not provided;not specified Hypothyroidism,other/unspecified 0.000809 -0.1563 0.0467 Acute mastoiditis 9.934e-05 31.925 8.202 PALB2 rs45624036 16:23624049:C:T 16 23624049 C T 16:23635370 0.987679 0.0129073 64 4678 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial cancer of breast;Hereditary cancer-predisposing syndrome;Pancreatic cancer 3;not provided;not specified Monoarthritis, not elsewhere classified 9.79e-05 1.2067 0.3097 Symptoms and signs involving speech and voice 4.645e-05 4.485 1.101 PALB2 rs45532440 16:23630140:C:G 16 23630140 C G 16:23641461 0.999046 6876 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial cancer of breast;Fanconi anemia;Hereditary cancer-predisposing syndrome;Pancreatic cancer 3;not specified Hypothyroidism,other/unspecified 0.000485 -0.1556 0.0446 Acute mastoiditis 0.0001384 27.419 7.195 PALB2 rs152451 16:23634870:T:C 16 23634870 T C 16:23646191 0.997766 30680 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial cancer of breast;Fanconi anemia;Hereditary cancer-predisposing syndrome;not provided;not specified Convalescence 0.00124 0.3308 0.1025 Crohn disease ( strict definition, require KELA, min 2 HDR) 0.0006627 0.896 0.263 PALB2 rs180177102 16:23634953:CA:C 16 23634953 CA C 16:23646274 0.914047 0.00139362 0 512 pLoF dominant Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of breast (other cancers excluded from controls) 4.89e-21 3.1716 0.337 PALB2 rs45494092 16:23635536:A:G 16 23635536 A G 16:23646857 0.984115 15030 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial cancer of breast;Hereditary cancer-predisposing syndrome;Pancreatic cancer 3;not provided;not specified Other congenital malformations of skin 0.000534 0.5729 0.1654 Other disorders of pigmentation 0.0001251 3.038 0.792 PALB2 rs202241382 16:23635546:A:C 16 23635546 A C 16:23646867 0.989051 1852 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial cancer of breast;Fanconi anemia;Hereditary cancer-predisposing syndrome;not provided Peripheral artery operations in Hilmo 0.000318 1.1568 0.3213 Myalgia 0.0007881 10.392 3.096 PALB2 rs61756147 16:23636248:G:A 16 23636248 G A 16:23647569 0.919353 91 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other/unspecified disorders of vestibular function 0.000213 17.2798 4.6665 TNRC6A rs150912811 16:24791251:A:G 16 24791251 A G 16:24802572 0.991326 460 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Duodenal ulcer 0.00017 2.6154 0.6955 KDM8 rs117905412 16:27210412:A:G 16 27210412 A G 16:27221733 0.984638 4124 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of the genitourinary system 0.000661 0.6388 0.1876 Infections of genitourinary tract in pregnancy 0.0002135 19.751 5.335 IL4R rs1805010 16:27344882:A:G 16 27344882 A G 16:27356203 0.997257 0.373679 51988 85297 missense_variant dominant Pathogenic, protective protective no assertion criteria provided no_Criteria Asthma/COPD (KELA code 203) 1.29e-06 0.0647 0.0134 Childhood asthma (age<16) 0.0001325 0.126 0.033 IL4R rs55988941 16:27358957:G:A 16 27358957 G A 16:27370278 0.998265 0.00792895 56 2857 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Femoral hernia, unilateral 5.63e-05 2.2548 0.5598 Fissure and fistula of anal and rectal regions 0.001791 2.499 0.8 IL4R rs6413500 16:27362512:C:T 16 27362512 C T 16:27373833 0.944129 0.00256132 0 941 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 9.88e-05 7.9636 2.0453 IL4R rs1805015 16:27362859:T:C 16 27362859 T C 16:27374180 0.998747 44119 missense_variant dominant protective protective no assertion criteria provided no_Criteria Paroxysmal tachycardia 0.000349 -0.1277 0.0357 Tinnitus 5.134e-05 0.291 0.072 IL4R rs1801275 16:27363079:A:G 16 27363079 A G 16:27374400 0.996513 58779 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Paroxysmal tachycardia 0.000569 -0.1064 0.0309 Diffuse large B-cell lymphoma 0.0006954 0.702 0.207 IL4R rs1805014 16:27363708:T:C 16 27363708 T C 16:27375029 0.983025 700 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Colon, unspecified (other cancers excluded from controls) 0.000236 1.3455 0.3659 IL21R rs137946070 16:27434434:C:T 16 27434434 C T 16:27445755 0.896248 749 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other arthritis (FG) 0.00111 0.9051 0.2776 IL21R rs52822694 16:27446045:G:A 16 27446045 G A 16:27457366 0.963266 1031 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter IL21R immunodeficiency;not specified Idiopathic urticaria 0.000472 5.1028 1.4595 Pain, not elsewhere classified 0.0001451 21.571 5.678 KIAA0556 rs139603388 16:27749769:G:T 16 27749769 G T 16:27761090 0.986881 400 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Myocarditis 0.000643 4.0602 1.1897 Superficial injury of neck 0.0002254 245.572 66.574 KIAA0556 rs55953014 16:27761500:C:T 16 27761500 C T 16:27772821 0.973139 0.0108659 24 3968 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of upper respiratory tract 1.02e-05 -0.186 0.0422 Postzoster neuralgia 0.001332 65.829 20.515 KIAA0556 rs61730241 16:27766412:G:A 16 27766412 G A 16:27777733 0.938285 3764 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic gastritis 0.000689 0.3797 0.1119 Pollen allergy 0.0001456 4.15 1.093 CLN3 rs77595156 16:28477622:T:C 16 28477622 T C 16:28488943 0.991305 20923 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive;Seizures;not provided;not specified Bronchitis 0.000734 0.0747 0.0221 Background diabetic retinopathy 0.0006053 0.785 0.229 SH2B1 rs190981290 16:28873537:C:T 16 28873537 C T 16:28884858 0.898622 0.00205233 6 748 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified disorders of psychological development 3.97e-05 10.9728 2.6703 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.0005347 144.815 41.821 ATP2A1 rs185041245 16:28894901:A:G 16 28894901 A G 16:28906222 0.983796 1017 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Brody myopathy Type 2 diabetes, wide definition 0.000126 -0.5336 0.1392 MS-disease / Multiple Sclerosis 1.163e-05 52.824 12.048 ATP2A1 rs2071341 16:28902389:G:T 16 28902389 G T 16:28913710 0.876439 211 LC recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the abdomen, lower back, lumbar spine and pelvis 0.000235 2.215 0.6022 CD19 rs146795664 16:28932950:T:G 16 28932950 T G 16:28944271 0.993178 508 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mixed and other personality disorders 3e-04 2.3643 0.6539 CD19 rs2904880 16:28933075:C:G 16 28933075 C G 16:28944396 0.998086 78747 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Stenosis and insufficiency of lacrimal passages 0.000333 -0.1699 0.0473 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.000389 -0.034 0.009 CD19 rs34763945 16:28938730:G:A 16 28938730 G A 16:28950051 0.995929 22282 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Common Variable Immune Deficiency, Recessive;not provided;not specified Lesion of sciatic nerve 0.000878 0.3871 0.1163 Acute nasopharyngitis(common cold) 0.001784 0.599 0.192 LAT rs41292396 16:28986216:C:T 16 28986216 C T 16:28997537 0.983221 2178 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of male genital organs 0.00162 -0.2554 0.081 Iridocyclitis in diseases classified elsewhere 0.0003393 197.958 55.245 SPN rs2229654 16:29664005:A:G 16 29664005 A G 16:29675326 0.978076 1964 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of corpus uteri 0.000586 1.2482 0.363 Chlocystitis 0.0006901 99.435 29.302 ZG16 rs200571875 16:29779608:GGTCCGA:G 16 29779608 GGTCCGA G 16:29790929 0.95948 623 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pterygium 0.00013 5.7506 1.5032 KIF22 rs149860938 16:29799685:C:T 16 29799685 C T 16:29811006 0.994647 910 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Total colectomy operation 0.000512 3.0597 0.8807 Hypothyroidism,other/unspecified 0 4.039 0 KIF22 rs146561986 16:29804916:G:A 16 29804916 G A 16:29816237 0.930803 74 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified types of non-Hodgkin lymphoma (other cancers excluded from controls) 0.00185 15.7819 5.0693 PRRT2 rs140383655 16:29813121:G:A 16 29813121 G A 16:29824442 0.918184 0.00053894 0 198 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertensive Renal Disease 4.22e-05 9.8202 2.398 PRRT2 rs79182085 16:29813466:C:G 16 29813466 C G 16:29824787 0.960732 1026 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dystonia 10;History of neurodevelopmental disorder;not provided;not specified Carcinoma in situ of breast, other/unspecified 0.000152 7.2092 1.9033 Other diseases of liver 2.402e-05 49.086 11.621 PRRT2 rs76335820 16:29813701:C:T 16 29813701 C T 16:29825022 0.967059 4535 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dystonia 10;not specified Achalasia of cardia 0.000774 1.6934 0.5037 Preterm labour and delivery 0.00114 2.798 0.86 MVP rs71389430 16:29836833:G:C 16 29836833 G C 16:29848154 0.984164 799 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders related to short gestation and low birth weight, not elsewhere classified 0.000177 5.8441 1.5587 Colon adenocarcinoma 0.001477 58.729 18.472 SEZ6L2 rs117448844 16:29887700:C:T 16 29887700 C T 16:29899021 0.93865 91 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dry age-related macular degeneration (includes geographic atrophy) 0.000745 4.6546 1.3801 SEZ6L2 rs184056093 16:29897064:G:A 16 29897064 G A 16:29908385 0.948405 3078 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes with peripheral circulatory complications 0.00205 1.4992 0.4863 Abnormal findings in secretions and smears from cervix uteri vagina vulva 0.0004057 3.703 1.047 DOC2A rs202062683 16:30006215:G:C 16 30006215 G C 16:30017536 0.822015 542 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility 0.00057 1.064 0.3088 DOC2A rs1140239 16:30010081:C:T 16 30010081 C T 16:30021402 0.997375 0.373311 51506 85644 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma/COPD (KELA code 203) 3.75e-05 0.0551 0.0134 Asthma/COPD (KELA code 203) 0.0001541 0.05 0.013 ALDOA rs142759891 16:30069634:G:A 16 30069634 G A 16:30080955 0.950899 93 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments of head 0.000841 10.3446 3.0981 ALDOA rs2071390 16:30070046:G:T 16 30070046 G T 16:30081367 0.989798 0.245228 22376 67718 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nerve, nerve root and plexus disorders 6.79e-05 -0.0545 0.0137 Divergent concomitant strabismus 0.0005163 0.23 0.066 ALDOA rs138824667 16:30070156:G:A 16 30070156 G A 16:30081477 0.988195 0.00719131 22 2620 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter HNSHA due to aldolase A deficiency;not specified Autism spe 4.85e-05 2.8543 0.7025 Torticollis 0.001676 54.906 17.473 TBX6 rs201231713 16:30088569:C:T 16 30088569 C T 16:30099890 0.987745 1509 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peritonsillar abscess 0.000324 0.7769 0.2161 TBX6 rs56098093 16:30089080:C:T 16 30089080 C T 16:30100401 0.974228 4092 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing hyperostosis [Forestier] 0.00147 2.1896 0.6886 Other specified/unspecified necrotizing vasculopathies 0.003454 29.588 10.119 MAPK3 rs55859133 16:30116944:C:T 16 30116944 C T 16:30128265 0.998627 2850 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diverticular disease of intestine 0.00144 -0.2742 0.086 Presbycusis 0.002124 6.631 2.158 CORO1A rs150857828 16:30188392:C:A 16 30188392 C A 16:30199713 0.99258 0.00226464 4 828 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 8 Psoriatic and enteropathic arthropathies 2.79e-05 2.0529 0.4899 Psychiatric diseases 0 2.801 0 CORO1A rs35967690 16:30188484:G:A 16 30188484 G A 16:30199805 0.997529 2874 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Diverticular disease of intestine 0.00202 -0.2649 0.0858 Other disorders of breast and lactation associated with childbirth 0.001867 47.44 15.251 SRCAP rs187562954 16:30709702:C:T 16 30709702 C T 16:30721023 0.918625 551 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Convergent concomitant strabismus 0.00072 2.7747 0.8205 SRCAP rs149248373 16:30721237:C:A 16 30721237 C A 16:30732558 0.978532 0.00701166 22 2554 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Floating-Harbor syndrome;not provided;not specified Diseases of the musculoskeletal system and connective tissue 8.39e-06 -0.2041 0.0458 Congenital musculoskeletal deformities of head, face, spine and chest 0.000882 93.484 28.109 SRCAP rs143519723 16:30721323:C:T 16 30721323 C T 16:30732644 0.969411 659 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injuries involving multiple body regions 0.000322 6.0713 1.6878 SRCAP rs117804715 16:30724027:C:G 16 30724027 C G 16:30735348 0.991161 597 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disturbance of activity and attention 0.0026 2.4202 0.8038 SRCAP rs117480926 16:30729012:A:G 16 30729012 A G 16:30740333 0.991706 3396 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Floating-Harbor syndrome;not specified Extreme obesity with alveolar hypoventilation 0.000421 1.7026 0.4828 Retinoschisis and retinal cysts 0.0001116 29.477 7.629 SRCAP rs149217909 16:30738795:C:T 16 30738795 C T 16:30750116 0.908907 146 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pustulosis palmaris et plantaris 0.00143 8.4074 2.6374 SRCAP rs369935740 16:30739293:A:G 16 30739293 A G 16:30750614 0.982605 584 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of spinal cord 0.0011 4.4823 1.3738 PHKG2 rs138416154 16:30751601:C:T 16 30751601 C T 16:30762922 0.985294 5385 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glycogen phosphorylase kinase deficiency;Glycogen storage disease IXc;not specified Later onset COPD 0.000198 -0.4893 0.1315 Nonorganic sleeping disorders 0.0004424 3.64 1.036 ZNF629 rs201347043 16:30784153:T:A 16 30784153 T A 16:30795474 0.997786 2414 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectum, anus and anal canal 0.000233 0.7976 0.2167 Complications of other internal prosthetic devices, implants and grafts 4.148e-05 41.943 10.232 FBXL19 rs61738491 16:30947160:G:A 16 30947160 G A 16:30958481 0.93765 969 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postprocedural disorders of nervous system 0.00115 1.8501 0.5691 Benign neoplasm: Pancreas 0.0004181 174.732 49.522 HSD3B7 rs9938550 16:30987821:A:G 16 30987821 A G 16:30999142 0.99921 0.645614 153726 83465 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic lower respiratory diseases 1.88e-06 -0.0519 0.0109 Chronic lower respiratory diseases 8.013e-05 -0.03 0.007 HSD3B7 rs34212827 16:30988113:T:C 16 30988113 T C 16:30999434 0.987146 360 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Depression medications 0.00135 0.5579 0.1741 VKORC1 rs2884737 16:31094233:A:C 16 31094233 A C 16:31105554 0.99095 62007 LC dominant drug response drug response reviewed by expert panel Criteria_multSubmitter Migraine with aura 0.000236 0.1238 0.0337 Other disorders involving the immune mechanism, not elsewhere classified 3.483e-05 0.638 0.154 BCKDK rs199965337 16:31112274:C:T 16 31112274 C T 16:31123595 0.966658 0.000566159 0 208 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Normal-pressure hydrocephalus 4.39e-05 14.5677 3.5652 PRSS8 rs148529565 16:31135476:C:T 16 31135476 C T 16:31146797 0.819785 359 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility 0.000553 1.3186 0.3818 ITGAM rs41321249 16:31330103:C:A 16 31330103 C A 16:31341424 0.997047 8052 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Plantar fascial fibromatosis 4e-04 0.5111 0.1444 Unspecified dementia 0.0003263 2.847 0.792 ARMC5 rs201768837 16:31459852:G:A 16 31459852 G A 16:31471173 0.951875 1149 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed and other personality disorders 0.000615 1.4629 0.4271 Other and unspecified vasculitis limited to skin 0.0004192 163.288 46.287 ARMC5 rs141923065 16:31462770:A:G 16 31462770 A G 16:31474091 0.861689 627 pLoF dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vestibular neuronitis 0.000443 2.3708 0.6749 Psychiatric diseases 0 3.201 0 ARMC5 rs200115942 16:31464699:C:T 16 31464699 C T 16:31476020 0.956479 373 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system (other cancers excluded from controls) 0.000117 11.1792 2.9026 SLC5A2 rs149525864 16:31490211:G:T 16 31490211 G T 16:31501532 0.998946 709 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Mental and behauvioural disorders associated with the puerperium 0.000138 7.3922 1.9391 SLC5A2 rs61742739 16:31490477:A:G 16 31490477 A G 16:31501798 0.990448 611 missense_variant both Conflicting interpretations of pathogenicity Conflicting no assertion criteria provided no_Criteria Other and unspecified injuries of shoulder and upper arm 0.00301 4.4434 1.4976 SHCBP1 rs76534624 16:46618315:G:C 16 46618315 G C 16:46652227 0.997015 10470 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of eye and adnexa 0.000557 0.3853 0.1116 Thyrotoxicosis with toxic multinodular goitre 0.0001977 3.374 0.907 VPS35 rs193077277 16:46682127:C:T 16 46682127 C T 16:46716039 0.994081 1208 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular syndromes of brain in cerebrovascular disorders 0.000527 2.3864 0.6884 PHKB rs141733590 16:47461389:G:A 16 47461389 G A 16:47495300 0.987063 5327 pLoF recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glycogen storage disease IXb Traumatic subdural haemorrhage 0.00276 0.5226 0.1746 Cystitis 0.0008486 1.382 0.414 PHKB rs144486825 16:47503085:G:A 16 47503085 G A 16:47536996 0.913681 0.00034024 0 125 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glaucoma secondary to other eye disorders 8.27e-05 13.3354 3.3876 PHKB rs151155518 16:47511759:A:G 16 47511759 A G 16:47545670 0.975187 0.011413 46 4147 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glycogen phosphorylase kinase deficiency;Glycogen storage disease IXb;not provided;not specified Motor disorders (more controls excluded) 8.14e-05 3.0892 0.784 Mycoses 0.001692 3.911 1.246 PHKB rs139738333 16:47515525:A:G 16 47515525 A G 16:47549436 0.896804 128 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Brain, supratentorial (other cancers excluded from controls) 0.00135 18.6507 5.8196 PHKB rs56257827 16:47515562:G:T 16 47515562 G T 16:47549473 0.995089 4415 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Hypertension 0.00112 -0.1462 0.0449 Symptoms and signs involving emotional state 0.0006307 13.321 3.897 PHKB rs117218785 16:47515581:A:G 16 47515581 A G 16:47549492 0.996473 682 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glycogen storage disease IXb;not provided;not specified Other female pelvic inflammatory diseases 0.00114 1.2467 0.3831 Von Willebrand disease 0.000247 283.803 77.428 PHKB rs34667348 16:47650919:C:A 16 47650919 C A 16:47684830 0.98708 566 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autoimmune thyroiditis 0.00174 5.2658 1.6819 PHKB rs16945474 16:47663707:A:G 16 47663707 A G 16:47697618 0.99781 0.0171699 116 6192 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen phosphorylase kinase deficiency;Glycogen storage disease IXb;not provided;not specified Malignant neoplasm of eye and adnexa (other cancers excluded from controls) 9.61e-05 2.2411 0.5746 Myositis 0.0008404 11.691 3.501 PHKB rs532057230 16:47669238:TGAA:T 16 47669238 TGAA T 16:47703149 0.995127 11624 inframe_indel recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen phosphorylase kinase deficiency;not specified Other disorders of eye and adnexa 0.000508 0.3694 0.1062 Thyrotoxicosis with toxic multinodular goitre 0.0004543 2.77 0.79 ABCC12 rs151150316 16:48105321:G:A 16 48105321 G A 16:48139232 0.991245 825 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal scars and opacities 0.00122 4.4062 1.3624 Female genital prolapse 0.0001267 2.064 0.539 ABCC12 rs141807269 16:48140854:C:A 16 48140854 C A 16:48174765 0.999256 554 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonischemic cardiomyopathy 0.000185 3.2429 0.8675 Fracture of shoulder and upper arm 0.0003319 14.703 4.097 ABCC11 rs148539097 16:48184505:C:T 16 48184505 C T 16:48218416 0.941368 1204 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified soft tissue disorders related to use, overuse and pressure 0.000107 3.3621 0.8679 Hydronephrosis 0.004495 22.572 7.945 ABCC11 rs41280943 16:48187226:T:C 16 48187226 T C 16:48221137 0.988849 0.00943145 40 3425 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute suppurative otitis media 2.45e-05 0.5191 0.123 Special screening examination for other diseases and disorders 0.0001847 7.003 1.873 ABCC11 rs41282045 16:48200470:G:A 16 48200470 G A 16:48234381 0.968493 785 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otosclerosis 0.000242 1.874 0.5106 ABCC11 rs17822931 16:48224287:C:T 16 48224287 C T 16:48258198 0.996178 63477 missense_variant dominant Benign (likely)Benign no assertion criteria provided no_Criteria Congenital malformations of breast 0.00018 0.5481 0.1463 Congenital malformations of breast 0.0001618 0.813 0.216 ZNF423 rs147898137 16:49635815:C:T 16 49635815 C T 16:49669726 0.991879 8814 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis 14;not specified Pain in limb 0.000116 0.1962 0.0509 2.838e-05 0.458 0.109 ZNF423 rs111229124 16:49636012:G:A 16 49636012 G A 16:49669923 0.983084 1308 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis 14;not provided;not specified Anxious personality disorder 0.000669 4.0488 1.1902 Benign neoplasm: Short bones of lower limb 0.0007265 112.399 33.26 ZNF423 rs34214571 16:49637266:T:C 16 49637266 T C 16:49671177 0.997218 12387 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis 14;not specified Orchitis and epididymitis 0.000317 0.4618 0.1282 Neuromuscular dysfuntion of bladder 2.87e-05 2.525 0.604 ZNF423 rs142835239 16:49638008:A:G 16 49638008 A G 16:49671919 0.940119 388 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Genitourinary diseases 0.00014 0.4276 0.1123 NOD2 rs104895487 16:50699527:G:T 16 50699527 G T 16:50733438 0.911681 160 missense_variant dominant not provided not_provided no assertion provided none Vascular diseases of the intestine 0.000506 11.1248 3.199 NOD2 rs61755182 16:50707880:C:T 16 50707880 C T 16:50741791 0.978516 0.00195162 2 715 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 2 diabetes with ketoacidosis 4.78e-06 6.8828 1.5047 NOD2 rs2066842 16:50710713:C:T 16 50710713 C T 16:50744624 0.997464 50043 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Generalized epilepsy, strict edfinition 0.00149 0.1849 0.0582 Ulcer of vagina/vulva 0.0003709 1.059 0.297 NOD2 rs5743271 16:50710777:A:G 16 50710777 A G 16:50744688 0.904422 353 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Family history of certain disabilities and chronic diseases leading to disablement 0.000807 6.297 1.8795 NOD2 rs104895425 16:50710792:C:G 16 50710792 C G 16:50744703 0.997744 5109 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Crohn disease;Sarcoidosis, early-onset Other congenital malformations of the digestive system 0.000223 1.197 0.3243 Symptoms and signs involving speech and voice 0.0001758 3.349 0.893 NOD2 rs104895432 16:50711232:G:A 16 50711232 G A 16:50745143 0.98225 139 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of rectum 0.00026 6.3044 1.726 NOD2 rs2066844 16:50712015:C:T 16 50712015 C T 16:50745926 0.995029 0.018656 146 6708 missense_variant dominant Conflicting interpretations of pathogenicity, risk factor risk factor criteria provided, conflicting interpretations Criteria_multSubmitter Blau syndrome;Blau syndrome;Crohn disease;Inflammatory bowel disease 1;Inflammatory bowel disease 1;Yao syndrome;not specified Crohn disease ( strict definition, all UC cases excluded) 4.95e-06 1.2528 0.2743 Varus deformity, not elsewhere classified 0.0001285 27.632 7.216 NOD2 rs5743277 16:50712018:C:T 16 50712018 C T 16:50745929 0.965695 1248 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Blau syndrome;Blau syndrome;Crohn disease;Inflammatory bowel disease 1;not provided;not specified Severe diabetic background retinopathy 0.000609 2.6674 0.7782 Disorders of iron metabolism 0.0002343 275.793 74.968 NOD2 rs104895483 16:50712049:G:A 16 50712049 G A 16:50745960 0.858244 56 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dislocation of lens 0.0012 18.8456 5.8178 NOD2 rs61747625 16:50712175:C:T 16 50712175 C T 16:50746086 0.975855 1018 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Blau syndrome;Blau syndrome;Crohn disease;Inflammatory bowel disease 1;not provided Injury of muscle and tendon at shoulder and upper arm level 0.00016 0.8369 0.2217 Mixed hyperlipidaemia 0.001812 47.878 15.349 NOD2 rs2066845 16:50722629:G:C 16 50722629 G C 16:50756540 0.978636 1011 missense_variant dominant Conflicting interpretations of pathogenicity, risk factor risk factor criteria provided, conflicting interpretations Criteria_multSubmitter Blau syndrome;Blau syndrome;Crohn disease;Inflammatory bowel disease 1;Inflammatory bowel disease 1;Yao syndrome;not specified Malignant neoplasm of pancreas 0.00193 2.0588 0.6639 Superficial injury of wrist and hand 0.005824 17.834 6.467 NOD2 rs5743291 16:50723365:G:A 16 50723365 G A 16:50757276 0.985419 0.0387873 578 13672 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Blau syndrome;Blau syndrome;Crohn disease;Inflammatory bowel disease 1;Psoriatic arthritis, susceptibility to;Sarcoidosis, early-onset;Yao syndrome Herpesviral keratitis and keratoconjunctivitis 4.15e-05 0.7475 0.1824 Malignant neoplasm of rectum (other cancers excluded from controls) 0.0006745 2.018 0.594 NOD2 rs199883290 16:50729867:G:GC 16 50729867 G GC 16:50763778 0.977701 0.0152346 88 5509 pLoF dominant Conflicting interpretations of pathogenicity, risk factor risk factor criteria provided, conflicting interpretations Criteria_multSubmitter Crohn disease (strict definition, require KELA) 1.51e-09 1.6446 0.2721 3.279e-06 13.257 2.849 CYLD rs779374474 16:50793612:C:T 16 50793612 C T 16:50827523 0.958744 0.00104522 4 380 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture at wrist and hand level 4.33e-05 1.55 0.379 Other diseases of stomach and duodenum 0.001028 82.38 25.094 SALL1 rs74499562 16:51137215:T:C 16 51137215 T C 16:51171126 0.987333 3131 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Townes syndrome;Townes-Brocks syndrome 1;not specified Systemic atrophies primarly affecting the central nervous system 0.00148 1.378 0.4336 Major coronary heart disease event 0.001428 1.575 0.494 SALL1 rs149302006 16:51137293:C:T 16 51137293 C T 16:51171204 0.837797 182 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Stroke, including SAH 0.00013 1.4538 0.3798 SALL1 rs146454164 16:51140318:G:A 16 51140318 G A 16:51174229 0.988822 4572 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Townes-Brocks syndrome 1;not specified Injuries to the abdomen, lower back, lumbar spine and pelvis 0.000632 -0.3289 0.0962 Crohn's disease of small interstine 0.002198 7.19 2.348 SALL1 rs113614842 16:51141744:CGCTGCTGCT:C 16 51141744 CGCTGCTGCT C 16:51175655 0.912982 771 inframe_indel dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Townes-Brocks syndrome 1;not specified Erythema nodosum 0.000679 3.8142 1.1225 Toxic liver disease 0.00324 326.209 110.805 RBL2 rs61747628 16:53461769:A:G 16 53461769 A G 16:53495681 0.877566 107 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rash and other nonspecific skin eruption 0.000721 4.9474 1.4631 RBL2 rs61747629 16:53470624:A:T 16 53470624 A T 16:53504536 0.958914 926 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified vasculitis limited to skin 0.000168 5.5199 1.467 AKTIP rs118126947 16:53494145:C:T 16 53494145 C T 16:53528057 0.995641 824 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonorganic sleeping disorders (more controls excluded) 0.000758 1.4555 0.4322 Phakomatoses, not elsewhere classified 0.0003701 201.626 56.628 RPGRIP1L rs3213758 16:53605526:C:T 16 53605526 C T 16:53639438 0.999952 17327 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not provided;not specified Obesity 0.000262 -0.1612 0.0442 Disorders of oesophagus in diseases classified elsewhere 0.0003603 4.177 1.171 RPGRIP1L rs151332923 16:53605610:G:A 16 53605610 G A 16:53639522 0.92275 164 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Von Willebrand disease 0.000678 25.6913 7.5602 RPGRIP1L rs142317242 16:53619079:C:T 16 53619079 C T 16:53652991 0.987591 728 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ischemic heart diseases 0.000814 -0.4523 0.1351 RPGRIP1L rs139974543 16:53619093:G:C 16 53619093 G C 16:53653005 0.99542 2476 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Meckel-Gruber syndrome;not specified Other meningitis 0.000373 3.241 0.9109 Dislocation, sprain and strain of joints and ligaments at ankle and foot level 0.0002658 4.169 1.143 RPGRIP1L rs111775292 16:53622223:G:C 16 53622223 G C 16:53656135 0.988943 37124 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute tubulo-interstitial nephritis 0.000265 -0.0907 0.0249 Care involving use of rehabilitation procedures 0.0001624 0.187 0.05 RPGRIP1L rs2111119 16:53637842:C:T 16 53637842 C T 16:53671754 0.998747 20523 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified Other arrhytmias 0.000166 -0.1249 0.0332 Other neurological diseases 5.118e-05 0.379 0.094 RPGRIP1L rs2302677 16:53649037:C:T 16 53649037 C T 16:53682949 0.999471 3131 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Joubert syndrome;Meckel-Gruber syndrome;Meckel-Gruber syndrome;Nephronophthisis;not specified Hypermetropia 0.000317 1.2753 0.3541 Juvenile rheuma 2.852e-05 50.066 11.963 RPGRIP1L rs769686672 16:53657615:T:G 16 53657615 T G 16:53691527 0.912084 109 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 0.000339 8.3309 2.3246 RPGRIP1L rs138155747 16:53658782:A:G 16 53658782 A G 16:53692694 0.997156 3616 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Urolithiasis 0.000327 -0.4194 0.1167 Gonarthrosis,primary 0.00239 1.22 0.402 RPGRIP1L rs61747071 16:53686524:C:T 16 53686524 C T 16:53720436 0.996949 3518 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Joubert syndrome;Joubert syndrome;Meckel-Gruber syndrome;Meckel-Gruber syndrome;Nephronophthisis;Retinitis pigmentosa in ciliopathies, modifier of;not specified Residual foreign body in soft tissue 0.000105 1.3534 0.3489 Endometriosis of intestine 4.908e-05 39.909 9.83 RPGRIP1L rs146584570 16:53687867:T:C 16 53687867 T C 16:53721779 0.974074 274 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Follicular cysts of skin and subcutaneous tissue 0.000864 2.218 0.6658 Injury of unspecified body region 0.002722 34.174 11.401 RPGRIP1L rs146925098 16:53696210:C:A 16 53696210 C A 16:53730122 0.978382 282 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Follicular cysts of skin and subcutaneous tissue 0.000891 2.1906 0.6593 FTO rs145884431 16:53826227:G:A 16 53826227 G A 16:53860139 0.889944 150 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Follow-up examination after treatment for malignant neoplasms 0.000312 5.7633 1.5985 FTO rs144743617 16:53844170:G:A 16 53844170 G A 16:53878082 0.913968 452 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of brain and other parts of central nervous system (other cancers excluded from controls) 0.000172 3.8138 1.0153 Attention to artificial openings 8.829e-05 692.849 176.716 LPCAT2 rs61739979 16:55528447:G:A 16 55528447 G A 16:55562359 0.93623 351 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pure hypercholesterolaemia 0.00223 0.9501 0.3107 Other and/or unspecified nontoxic goitre 0.003266 27.615 9.388 LPCAT2 rs142090669 16:55579140:C:T 16 55579140 C T 16:55613052 0.965655 0.00230274 4 842 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Kidney 4.17e-05 5.042 1.2304 Other disorders of binocular vision 0.0005144 155.901 44.888 SLC6A2 rs11568323 16:55656715:C:A 16 55656715 C A 16:55690627 0.82189 81 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of eye and adnexa 0.000322 37.7067 10.4829 SLC6A2 rs1805065 16:55669586:C:T 16 55669586 C T 16:55703498 0.900128 1317 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dysplasia of cervi uteri 0.000206 0.8609 0.232 Tinnitus 0.00241 33.945 11.186 SLC6A2 rs11568343 16:55671926:G:A 16 55671926 G A 16:55705838 0.999243 0.0150359 110 5414 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Orthostatic intolerance Ulcerative ileocolitis 6.03e-06 1.3467 0.2976 Other diseases of peritoneum 0.0002106 8.261 2.229 SLC6A2 rs1805066 16:55685231:G:A 16 55685231 G A 16:55719143 0.972464 4009 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonia (excl. viral and due to other infectious organisms not elsewhere classified) 0.00026 0.1875 0.0513 Primary angle-closure glaucoma 0.0006199 12.72 3.716 SLC6A2 rs5560 16:55701883:G:A 16 55701883 G A 16:55735795 0.928448 1836 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gout, strict definition 0.00055 1.0403 0.3011 Malignant neoplasm of testis 0.0004382 113.598 32.31 SLC6A2 rs201793493 16:55701905:G:C 16 55701905 G C 16:55735817 0.97013 156 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes, wide definition 0.000172 1.7643 0.4695 CES1 rs71647871 16:55823658:C:T 16 55823658 C T 16:55857570 0.970776 6368 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter clopidogrel response - Efficacy Other specified and unspecified strabismus 0.000719 2.068 0.6114 Wegener granulomatosis 0.0001208 28.531 7.421 BBS2 rs199655331 16:56502402:C:T 16 56502402 C T 16:56536314 0.996669 688 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Respiratory insufficiency 0.000299 2.9402 0.8131 BBS2 rs121908177 16:56502790:G:A 16 56502790 G A 16:56536702 0.972758 346 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contusion of ankle 0.00112 6.0002 1.8418 BBS2 rs11373 16:56511263:T:C 16 56511263 T C 16:56545175 0.99997 0.175983 11574 53080 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Failed induction of labour 2.83e-05 0.4002 0.0956 Use of antiglaucoma preparations and miotics 0.000588 -0.336 0.098 BBS2 rs4784677 16:56514589:C:T 16 56514589 C T 16:56548501 0.956295 369 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Meralgia paraesthetica 0.000896 -6.3111 1.9002 Meralgia paraesthetica 0.0008962 -3.156 0.95 BBS2 rs139945733 16:56514672:A:C 16 56514672 A C 16:56548584 0.998031 2217 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Suppurative otitis media, unspecified 0.000577 2.1493 0.6244 Artificial opening status 3.368e-05 48.185 11.619 MT3 rs142343514 16:56590942:G:A 16 56590942 G A 16:56624854 0.991701 423 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Central retinal artery occlusion 0.00062 7 2.0452 NUP93 rs145146218 16:56831918:C:T 16 56831918 C T 16:56865830 0.981207 0.00058249 0 214 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Intracerebral haemmorrhage 1.45e-05 5.5659 1.2834 SLC12A3 rs1529927 16:56870675:C:G 16 56870675 C G 16:56904587 0.99829 12118 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Umbilical hernia 0.00181 -0.2238 0.0717 Inflammatory disorders of breast 0.002919 -0.255 0.086 SLC12A3 rs146834675 16:56872426:G:A 16 56872426 G A 16:56906338 0.991245 2042 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes with peripheral circulatory complications 0.00067 2.0978 0.6167 Other keratitis 0.0002227 19.679 5.33 SLC12A3 rs142679083 16:56872656:C:T 16 56872656 C T 16:56906568 0.959186 114 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) 0.000439 1.8826 0.5355 SLC12A3 rs36049418 16:56887928:G:A 16 56887928 G A 16:56921840 0.962955 3106 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Adhesive capsulitis of shoulder 0.000148 0.6575 0.1733 Habit and impulse disorders 0.0001163 17.613 4.57 SLC12A3 rs11643718 16:56899607:G:A 16 56899607 G A 16:56933519 0.997216 0.122293 5458 39471 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertensive diseases 1.17e-05 -0.0663 0.0151 Postprocedural disorders of nervous system 0.0002651 0.569 0.156 SLC12A3 rs12708965 16:56902407:C:T 16 56902407 C T 16:56936319 0.997227 0.03048 398 10800 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypokalemia-hypomagnesemia Burn and corrosion of shoulder and upper limb, except wrist and hand 8.52e-05 1.3047 0.332 Complications of the puerperium, not elsewhere classified 0.0004091 4.003 1.133 SLC12A3 rs373092349 16:56904458:G:A 16 56904458 G A 16:56938370 0.992363 399 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Convalescence 0.000231 3.0828 0.8372 CETP rs140547417 16:56975110:G:A 16 56975110 G A 16:57009022 0.978532 0.000484501 0 178 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Non-small cell lung cancer, adenocarcinoma 7.66e-06 9.8146 2.1935 CETP rs5880 16:56981179:G:C 16 56981179 G C 16:57015091 0.974204 9135 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperalphalipoproteinemia 1 Other specified congenital malformation syndromes affecting multiple systems 0.000685 1.3537 0.3987 Endometriosis of rectovaginal septum and vagina 0.00111 2.159 0.662 CETP rs5882 16:56982180:G:A 16 56982180 G A 16:57016092 0.998251 86517 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and ill-defined parts of digestive system (other cancers excluded from controls) 0.000258 -0.1289 0.0353 Congenital malformations of the nervous system 0.001055 0.248 0.076 CETP rs1800777 16:56983407:G:A 16 56983407 G A 16:57017319 0.960555 6582 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperalphalipoproteinemia 1 Other infectious diseases 0.000181 0.6734 0.1799 Multiple myeloma and malignant plasma cell neoplasms 0.000244 7.669 2.091 ARL2BP rs199830550 16:57248644:G:A 16 57248644 G A 16:57282556 0.914419 0.000440951 0 162 pLoF recessive Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Spinal stenosis 8.4e-05 1.852 0.4709 ARL2BP rs7198865 16:57249818:G:A 16 57249818 G A 16:57283730 0.974081 0.00445306 12 1624 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Malignant neoplasm of rectum (other cancers excluded from controls) 5.17e-05 1.637 0.4044 Carcinoma in situ of cervix uteri 0.001468 60.247 18.94 CCL22 rs41398344 16:57360481:T:C 16 57360481 T C 16:57394393 0.986506 566 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments at neck level 0.00025 1.9469 0.5316 CX3CL1 rs62037084 16:57379748:C:T 16 57379748 C T 16:57413660 0.993143 2175 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic background retinopathy 0.000145 0.9159 0.241 0.0005868 -1.975 0.575 CX3CL1 rs137886321 16:57382560:C:T 16 57382560 C T 16:57416472 0.906161 1379 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retention of urine 0.000305 0.7587 0.2101 Other disorders of patella 0.0002639 15.592 4.274 COQ9 rs181356497 16:57451027:G:A 16 57451027 G A 16:57484939 0.964581 346 LC recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Corneal ulcer 0.000388 2.2898 0.6453 COQ9 rs143587648 16:57459679:C:T 16 57459679 C T 16:57493591 0.996665 4897 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Hypothermia 0.0011 1.6413 0.5027 0.0004399 0.634 0.18 COQ9 rs76508383 16:57459688:G:A 16 57459688 G A 16:57493600 0.973803 0.00251505 0 924 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Female infertility, associated with anovulation 8.93e-06 2.9924 0.6737 ADGRG1 rs144561715 16:57651349:C:T 16 57651349 C T 16:57685261 0.993563 691 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coagulation defects, purpura and other haemorrhagic conditions 0.000338 1.4219 0.3967 0.004779 -4.347 1.541 ADGRG1 rs1801257 16:57655473:C:G 16 57655473 C G 16:57689385 0.987631 0.582281 124846 89077 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Postmenopausal atrophic vaginitsi 2.03e-05 -0.2983 0.07 Postmenopausal atrophic vaginitsi 0.0004259 -0.183 0.052 ADGRG1 rs146704802 16:57655474:G:C 16 57655474 G C 16:57689386 0.976194 3878 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other anxiety disorders 0.00043 0.3249 0.0923 Neuromuscular dysfuntion of bladder 0.002197 7.013 2.29 ADGRG1 rs1801255 16:57655893:A:C 16 57655893 A C 16:57689805 0.990137 0.326921 39164 80943 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Olecranon bursitis 3.15e-05 0.2591 0.0622 Olecranon bursitis 0.0001836 0.253 0.068 ADGRG1 rs147479620 16:57657475:G:A 16 57657475 G A 16:57691387 0.864469 206 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified acute skin changes due to ultraviolet radiation 0.00123 9.0447 2.7986 ADGRG1 rs17379472 16:57659586:T:C 16 57659586 T C 16:57693498 0.996063 0.0690659 1828 23546 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Persons encountering health services for specific procedures and health care 8.67e-05 0.0858 0.0219 Other respiratory disorders and diseases 2.749e-05 0.794 0.189 KATNB1 rs149569503 16:57755176:C:T 16 57755176 C T 16:57789088 0.954306 849 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain (limb, back, neck, head abdominally) 0.0016 -0.2377 0.0753 Other specified and unspecified retinal disorders 0.0006277 127.32 37.235 CNGB1 rs201449358 16:57887896:C:T 16 57887896 C T 16:57921800 0.98308 0.00365009 6 1335 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Recessive Artificial opening status 9.92e-06 3.9757 0.8997 Retinal detachments and breaks 0.0009309 7.976 2.409 CNGB1 rs148999583 16:57897524:C:T 16 57897524 C T 16:57931428 0.964366 536 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mental and behavioural disorders due to opioids 0.000511 4.2021 1.2092 CNGB1 rs201162411 16:57901371:T:A 16 57901371 T A 16:57935275 0.990294 0.00623319 28 2262 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Retinitis Pigmentosa, Recessive;Retinitis pigmentosa;not provided Hereditary retinal dystrophy 5.82e-07 5.0517 1.0109 Hereditary retinal dystrophy 2.01e-10 124.317 19.545 CNGB1 rs112002818 16:57901538:G:A 16 57901538 G A 16:57935442 0.991392 30962 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Recessive;not provided Diverticular disease of intestine 0.00016 0.0995 0.0264 Localized scleroderma [morphea] 0.0003165 2.383 0.662 CNGB1 rs79889567 16:57901566:C:T 16 57901566 C T 16:57935470 0.989822 3713 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Non-rheumatic valve diseases 0.00111 0.2968 0.091 Bacterial, viral and other infectious agents 0.0008521 9.673 2.9 CNGB1 rs2303785 16:57903884:T:C 16 57903884 T C 16:57937788 0.989383 0.10346 4042 33968 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary retinal dystrophy 2.99e-05 0.8136 0.1949 Other specified/unspecified soft tissue disorders 0.0001904 0.8 0.214 CNGB1 rs146762538 16:57903935:C:T 16 57903935 C T 16:57937839 0.98107 759 missense_variant recessive Uncertain significance VUS no assertion criteria provided no_Criteria Lagophthalmos 0.00109 7.1226 2.1807 CNGB1 rs10459809 16:57915320:G:T 16 57915320 G T 16:57949224 0.994635 53445 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of ovary 0.000615 0.1312 0.0383 Juvenile rheuma 0.001013 0.631 0.192 CNGB1 rs12927214 16:57923312:A:G 16 57923312 A G 16:57957216 0.995173 18525 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Recessive;not provided Non-small cell lung cancer, squamous (other cancers excluded from controls) 0.000913 0.6299 0.19 Other disorders of fluid, electrolyte and acid-base balance 0.001269 0.539 0.167 CNGB1 rs147593839 16:57931869:G:A 16 57931869 G A 16:57965773 0.994238 15247 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Retinal dystrophy;Retinitis Pigmentosa, Recessive Congenital iodine-deficiency syndrome/hypothyroidism 0.00066 0.7528 0.221 Benign neoplasm: Ascending colon (other cancers excluded from controls) 0.0009162 1.565 0.472 CNGB1 rs61745888 16:57959937:C:T 16 57959937 C T 16:57993841 0.98688 4611 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinitis Pigmentosa, Recessive;not specified DVT of lower extremities and pulmonary embolism 0.00052 0.3007 0.0867 Benign neoplasm: Connective and other soft tissue of head, face and neck (other cancers excluded from controls) 0.0001009 30.764 7.912 CNGB1 rs13336595 16:57963056:C:T 16 57963056 C T 16:57996960 0.98566 51132 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary parkinsonism 0.000994 -0.3553 0.1079 Dislocation, sprain and strain of joint and ligaments of hip 0.0006635 0.217 0.064 USB1 rs16959641 16:58020195:C:G 16 58020195 C G 16:58054099 0.993005 15001 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Disorders of other endocrine glands 0.00105 0.1529 0.0467 Pyogenic granuloma 0.0001238 5.577 1.453 PRSS54 rs61740099 16:58284658:G:C 16 58284658 G C 16:58318562 0.995474 2791 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of prostate 0.000281 1.7977 0.495 Placenta praevia 0.0001765 20.419 5.444 SLC38A7 rs117111840 16:58667412:G:A 16 58667412 G A 16:58701316 0.980049 1655 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary_lymphoid and hematopoietic malignant neoplasms 0.000836 0.7221 0.2162 Glucoma-related operations 0.002501 38.11 12.606 SLC38A7 rs151075190 16:58680098:T:C 16 58680098 T C 16:58714002 0.997311 9780 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic lymphocytic leukaemia 0.001 1.0786 0.3279 Retinoschisis and retinal cysts 0.003143 6.263 2.121 CDH8 rs140000814 16:61654012:G:A 16 61654012 G A 16:61687916 0.994221 540 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of hip and lower limb, except ankle and foot 0.000595 7.3279 2.1339 CDH11 rs141063325 16:64972031:G:A 16 64972031 G A 16:65005934 0.998379 9383 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Eating disorders 0.000998 0.3899 0.1185 Diseases of male genital organs 0.0007656 0.569 0.169 TK2 rs2241619 16:66513864:T:C 16 66513864 T C 16:66547767 0.999209 20782 pLoF recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nasal polyp 0.000168 -0.2339 0.0622 Congenital obstructive defects of renal pelvis and congenital malformations of ureter 0.0002576 3.224 0.882 TK2 rs137886900 16:66517207:G:A 16 66517207 G A 16:66551110 0.983573 402 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.000296 0.7804 0.2156 TK2 rs281865493 16:66529055:G:A 16 66529055 G A 16:66562958 0.930766 327 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Acute epiglottitis 0.000436 12.8029 3.6401 TK2 rs200121712 16:66549968:G:A 16 66549968 G A 16:66583871 0.975295 9609 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mitochondrial DNA depletion syndrome;not provided;not specified Substance use, excluding alcohol 0.00226 -0.2773 0.0908 Oesophageal obstruction 0.001165 5.116 1.575 TK2 rs3743715 16:66550091:G:C 16 66550091 G C 16:66583994 0.997913 0.0537361 1054 18688 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mitochondrial DNA depletion syndrome;not specified Diseases of the ear and mastoid process 9.11e-05 0.076 0.0194 Haemorrhage in early pregnancy 0.0002156 0.79 0.214 TK2 rs3743716 16:66550099:T:C 16 66550099 T C 16:66584002 0.997045 34630 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mitochondrial DNA depletion syndrome;not specified Meniere disease 0.00027 0.2484 0.0682 Haemorrhage in early pregnancy 0.0003699 0.365 0.103 CA7 rs117738342 16:66847054:A:T 16 66847054 A T 16:66880957 0.991648 0.0056126 8 2054 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of skin 4.34e-05 -0.4688 0.1146 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.0004007 183.24 51.768 FBXL8 rs201429195 16:67163470:G:C 16 67163470 G C 16:67197373 0.949408 297 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Visual disturbances 0.000316 1.4126 0.3921 FBXL8 rs200404151 16:67163728:G:C 16 67163728 G C 16:67197631 0.89139 211 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcer of oesophagus 0.00222 3.6852 1.2045 HSF4 rs199742128 16:67167129:G:T 16 67167129 G T 16:67201032 0.954281 0.00109965 2 402 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of head 2.12e-05 2.4685 0.5806 HSF4 rs776129797 16:67167823:G:GC 16 67167823 G GC 16:67201726 0.914792 143 pLoF dominant Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the nervous and musculoskeletal systems 0.000635 1.7101 0.5006 PLEKHG4 rs11860295 16:67282331:C:T 16 67282331 C T 16:67316234 0.999302 41160 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Other viral diseases 0.000266 0.1466 0.0402 Cholangitis (primary sclerosing, PSC), with reimbursement 202 0.0001201 1.502 0.39 PLEKHG4 rs8044843 16:67284339:A:G 16 67284339 A G 16:67318242 0.999126 44817 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Diabetic retinopathy 0.000523 0.1386 0.04 Cholangitis (primary sclerosing, PSC), with reimbursement 202 0.0001313 1.338 0.35 PLEKHG4 rs145971126 16:67285354:A:G 16 67285354 A G 16:67319257 0.962968 560 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of procedures, not elsewhere classified 0.000915 0.6006 0.1812 PLEKHG4 rs3868142 16:67286320:G:A 16 67286320 G A 16:67320223 0.999356 41145 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Other viral diseases 0.000346 0.1438 0.0402 Cholangitis (primary sclerosing, PSC), with reimbursement 202 0.0001199 1.502 0.39 KCTD19 rs770236578 16:67294967:TCTTA:T 16 67294967 TCTTA T 16:67328870 0.994426 1097 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Colorectal cancer 0.000288 1.0672 0.2943 Convergence insufficiency and excess 0.0008723 95.033 28.549 AGRP rs5030980 16:67483042:C:T 16 67483042 C T 16:67516945 0.999759 13826 missense_variant both Pathogenic, association association no assertion criteria provided no_Criteria Leanness, inherited;Obesity, late-onset Sequelae of injuries of head 0.00133 0.5216 0.1626 Non-ischemic cardiomyopathy 0.0005912 0.516 0.15 CTCF rs145727304 16:67636779:C:T 16 67636779 C T 16:67670682 0.946115 207 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified injuries of abdomen, lower back and pelvis 0.00207 15.2524 4.9521 LCAT rs5923 16:67940050:G:A 16 67940050 G A 16:67973953 0.996624 10071 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Norum disease Other abnormal immunological findings in serum 0.000496 1.2364 0.355 6.35e-05 0.376 0.094 SLC7A6 rs79087422 16:68296494:A:G 16 68296494 A G 16:68330397 0.987246 411 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fibroblastic disorders 0.000302 1.5212 0.421 PRMT7 rs145640515 16:68346168:G:A 16 68346168 G A 16:68380071 0.995087 1723 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypotension 0.000737 1.0348 0.3066 Benign neoplasm: Colon, unspecified (other cancers excluded from controls) 1.62e-05 10.156 2.355 PRMT7 rs201026938 16:68357144:A:G 16 68357144 A G 16:68391047 0.972338 711 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of ankle and foot 0.000861 1.8477 0.5545 Hypopituitarism 0.0007365 100.042 29.636 CDH3 rs36038900 16:68679912:A:C 16 68679912 A C 16:68713815 0.966838 720 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of the respiratory system 0.000124 -0.2987 0.0778 CDH3 rs34394404 16:68684685:G:A 16 68684685 G A 16:68718588 0.976726 1720 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Abscess of external ear 0.000388 3.4777 0.9801 Prurigo nodularis 0.001271 69.411 21.54 CDH3 rs34494880 16:68685210:G:A 16 68685210 G A 16:68719113 0.998189 0.0871395 2800 29214 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter EEM syndrome Other shoulder lesions 2.87e-05 0.3678 0.0879 0.002305 0.325 0.107 CDH3 rs138190335 16:68685216:T:C 16 68685216 T C 16:68719119 0.968806 343 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Iridocyclitis in diseases classified elsewhere 0.0011 9.5326 2.9217 CDH3 rs151198926 16:68687622:G:A 16 68687622 G A 16:68721525 0.995159 894 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory diseases of prostate (prostatitis) 0.000141 1.5931 0.4185 CDH3 rs1126933 16:68687630:G:C 16 68687630 G C 16:68721533 0.997894 89116 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular pucker 0.000711 -0.163 0.0481 Cholangitis (primary sclerosing, PSC) 5.439e-06 0.268 0.059 CDH3 rs34813787 16:68698266:G:A 16 68698266 G A 16:68732169 0.993394 1023 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Colorectal cancer 0.000114 1.1928 0.3092 Hydrocephalus 3.562e-05 58.244 14.088 CDH1 rs587782484 16:68737423:C:G 16 68737423 C G 16:68771326 0.908059 383 missense_variant dominant Likely benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hypothermia 0.00145 8.4921 2.666 CDH1 rs587776399 16:68810317:T:G 16 68810317 T G 16:68844220 0.995205 937 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;not provided Third [oculomotor] nerve palsy 0.000635 5.2386 1.5335 Acute and subacute iridocyclitis 0 18.946 0 CDH1 rs200932258 16:68811697:G:A 16 68811697 G A 16:68845600 0.969281 255 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm of other and unspecified endocrine glands 0.000586 3.4277 0.997 CDH1 rs35187787 16:68822063:G:A 16 68822063 G A 16:68855966 0.996458 979 missense_variant dominant Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Hereditary diffuse gastric cancer;Neoplasm of the breast;not provided;not specified Unspecified lump in breast 0.000339 1.2172 0.3397 Male infertility 0.002737 35.074 11.707 CDH1 rs201637081 16:68823482:A:T 16 68823482 A T 16:68857385 0.966488 235 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Arthropod-borne viral fevers and viral haemorrhagic fevers 0.00154 3.3158 1.0469 Volvulus 0.0006684 116.608 34.274 UTP4 rs144369314 16:69136838:G:T 16 69136838 G T 16:69170741 0.977595 266 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dorsalgia 0.00021 0.8051 0.2172 COG8 rs151318611 16:69339548:G:A 16 69339548 G A 16:69373451 0.998659 407 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes with ketoacidosis 0.000591 2.5397 0.7392 NFAT5 rs200933617 16:69647162:G:A 16 69647162 G A 16:69681065 0.998458 2706 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency Parkinson's disease, strict definition 0.000617 0.7517 0.2196 Other crystal arthropathies 0.00078 103.025 30.664 NFAT5 rs150693156 16:69684893:C:G 16 69684893 C G 16:69718796 0.995902 1044 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of lip, oral cavity and pharynx 0.000146 7.3896 1.9454 NFAT5 rs368922982 16:69692513:TCAA:T 16 69692513 TCAA T 16:69726416 0.988353 822 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other erythematous conditions 0.00221 3.0281 0.9895 Drug-induced hypoglycaemia without coma 0.0003957 188.94 53.329 NFAT5 rs145602190 16:69693577:A:G 16 69693577 A G 16:69727480 0.971002 1630 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency Problems related to certain psychosocial circumstances 0.0012 1.0496 0.3241 Other bursitis of hip 0.001341 64.324 20.057 NQO1 rs1800566 16:69711242:G:A 16 69711242 G A 16:69745145 0.999999 55262 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Fibroblastic disorders 0.000119 0.1292 0.0336 Failed induction of labour 0.0001409 0.58 0.152 AARS rs35744709 16:70252728:T:A 16 70252728 T A 16:70286631 0.981802 3068 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2N Psychiatric diseases 0.000849 -0.1655 0.0496 Hypersensitivity pneumonitis due to organic dust 7.677e-05 47.774 12.082 AARS rs149377346 16:70252837:C:T 16 70252837 C T 16:70286740 0.993899 0.00264843 4 969 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2N;not provided Other sleepdisorders 6.97e-06 2.1355 0.4751 Dronedarone medication 0.0004137 152.752 43.258 AARS rs147319762 16:70253980:T:C 16 70253980 T C 16:70287883 0.994013 0.000963559 0 354 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other symptoms and signs involving the circulatory and respiratory systems 3.06e-05 6.0639 1.4545 AARS rs371595630 16:70259161:T:C 16 70259161 T C 16:70293064 0.982076 72 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Convalescence 0.000538 11.9256 3.4455 AARS rs148355156 16:70261144:G:A 16 70261144 G A 16:70295047 0.994143 1161 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;Charcot-Marie-Tooth disease, type 2N;not provided;not specified Osteoporosis with pathological fracture (FG) 0.000884 1.9829 0.5963 Chronic diseases of tonsils and adenoids 0 2.44 0 AARS rs748803390 16:70282636:T:C 16 70282636 T C 16:70316539 0.929302 316 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Beningn neoplasm: Meninges, unspecified 0.00123 9.6274 2.9788 FUK rs149607813 16:70474948:A:G 16 70474948 A G 16:70508851 0.982777 0.00252594 6 922 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other sleepdisorders 2.18e-05 2.0454 0.4817 Dronedarone medication 0.0005563 115.168 33.362 COG4 rs113455884 16:70483921:G:T 16 70483921 G T 16:70517824 0.952446 1210 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital disorder of glycosylation;Congenital disorder of glycosylation type 2J;not provided;not specified Dissection of aorta 0.000668 2.7881 0.8195 Atopic conjunctivitis 0.002176 38.849 12.675 COG4 rs3931036 16:70514394:G:A 16 70514394 G A 16:70548297 0.999257 19184 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other juvenile arthritis 0.000592 -0.4992 0.1453 Other juvenile arthritis 0.000439 -0.266 0.076 VAC14 rs145208697 16:70785767:T:C 16 70785767 T C 16:70819670 0.985191 0.0113259 58 4103 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of thyroid 7.53e-06 3.3634 0.7511 !Aliquae complicationes praecoces traumatis 0.0004054 16.321 4.615 VAC14 rs140398947 16:70785860:G:A 16 70785860 G A 16:70819763 0.996485 0.0143472 98 5173 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pustulosis palmaris et plantaris 5.45e-05 1.3245 0.3282 Other and unspecified erythematous conditions 0.0006594 13.169 3.867 HYDIN rs79607350 16:70809809:G:A 16 70809809 G A 16:70843712 0.990511 348 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of ear 0.000525 0.6993 0.2017 HYDIN rs2502726 16:70938692:T:C 16 70938692 T C 16:70972595 0.991302 66782 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter with reimbursement 0.000289 -0.088 0.0243 Malignant neoplasm of meninges 0.0003661 0.161 0.045 HYDIN rs372141489 16:70970693:G:A 16 70970693 G A 16:71004596 0.842147 319 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Complications following infusion, transfusion and therapeutic injection 0.00054 14.3944 4.1602 HYDIN rs78763837 16:70981426:G:T 16 70981426 G T 16:71015329 0.994604 75093 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other juvenile arthritis 0.000494 0.2534 0.0727 Other deformities of toe(s) 0.0005269 0.331 0.095 HYDIN rs113448164 16:71186765:C:T 16 71186765 C T 16:71220668 0.982243 1582 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 5 Falls/tendenct to fall 0.000114 1.4087 0.3651 Symptoms and signs concerning food and fluid intake 0.001731 48.29 15.414 HYDIN rs75270082 16:71186852:A:G 16 71186852 A G 16:71220755 0.997109 11471 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign mammary dysplasia 0.000335 0.3212 0.0896 Other arthrosis 0.0003714 0.681 0.191 HYDIN rs3743953 16:71230658:A:G 16 71230658 A G 16:71264561 0.995548 0.149322 8542 46317 pLoF recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute renal failure 3.1e-05 0.2156 0.0518 0.0006216 0.972 0.284 TAT rs138304751 16:71569933:T:C 16 71569933 T C 16:71603836 0.996037 542 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Complications of other internal prosthetic devices, implants and grafts 0.000347 5.9788 1.6714 TAT rs74344827 16:71576373:G:A 16 71576373 G A 16:71610276 0.997623 54092 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Depression medications 0.000179 0.0534 0.0143 Other disorders of prostate 0.0006655 0.508 0.149 DHODH rs3213422 16:72008783:A:C 16 72008783 A C 16:72042682 0.999723 91153 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melanoma in situ 0.000165 0.3156 0.0838 Statin medication 0.0001408 -0.029 0.008 DHODH rs192923495 16:72023294:C:T 16 72023294 C T 16:72057193 0.99876 591 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other abnormal immunological findings in serum 0.000121 7.6952 2.0023 DHODH rs61733129 16:72023522:C:T 16 72023522 C T 16:72057421 0.998168 0.0248538 240 8891 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Miller syndrome;not specified Crohn's disease of large intestine 4.42e-05 0.8081 0.1979 Dystonia 0.002534 3.483 1.154 HPR rs470710 16:72076983:C:T 16 72076983 C T 16:72110882 0.984028 434 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative colitis ( strict definition, require KELA) 0.000505 1.8894 0.5432 Acquired haemolytic anaemia 0.000245 283.72 77.361 HPR rs12646 16:72077049:C:G 16 72077049 C G 16:72110948 0.996029 84544 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory bowel disease 0.000276 0.0847 0.0233 5.93e-05 0.048 0.012 DHX38 rs61749037 16:72099221:G:A 16 72099221 G A 16:72133120 0.997958 1547 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of intra-abdominal organs 0.000678 2.8884 0.85 Malignant neoplasm of urinary organs 0.0005412 11.982 3.464 DHX38 rs11554765 16:72107741:C:T 16 72107741 C T 16:72141640 0.981523 2464 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative colitis ( strict definition, all Crohn cases excluded) 0.000256 0.8275 0.2263 Other osteochondropathies 0.0008662 10.899 3.272 DHX38 rs137867582 16:72112475:C:T 16 72112475 C T 16:72146374 0.995164 0.00215304 4 787 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 4.68e-05 1.9231 0.4724 Other/unspecified soft tissue disorders related to use, overuse and pressure 0.0006536 120.932 35.481 ZFHX3 rs149908041 16:72787211:T:C 16 72787211 T C 16:72821110 0.985441 354 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of eyelid, including canthus 0.000676 2.1743 0.6396 ZFHX3 rs200992486 16:72787445:G:A 16 72787445 G A 16:72821344 0.890401 691 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemorrhagic and haematological disorders of fetus and newborn 0.000391 9.2816 2.6176 ZFHX3 rs117523752 16:72788017:T:C 16 72788017 T C 16:72821916 0.985514 1511 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter KRA_PSY_EATING (more controls excluded) 0.000114 1.5726 0.4075 ZFHX3 rs149133285 16:72788746:G:A 16 72788746 G A 16:72822645 0.992218 4318 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injuries involving multiple body regions 0.000993 1.6719 0.5078 Labour and delivery complicated by umbilical cord complications 0.0005233 14.08 4.059 ZFHX3 rs142939235 16:72793975:T:C 16 72793975 T C 16:72827874 0.989765 642 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Haemorrhage from respiratory passages 0.000195 1.0699 0.2872 ZFHX3 rs117283459 16:72797730:G:A 16 72797730 G A 16:72831629 0.971009 121 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other facial nerve disorders 0.000223 17.3776 4.7077 ZFHX3 rs77124117 16:72950770:G:A 16 72950770 G A 16:72984669 0.979755 13395 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of ear and external auricular canal (other cancers excluded from controls) 0.000811 0.6017 0.1796 Delivery 0.0004693 -0.32 0.092 ZFHX3 rs143781722 16:72950815:T:C 16 72950815 T C 16:72984714 0.978353 386 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Tongue abnormality 0.00107 3.5966 1.0997 ZFHX3 rs140602496 16:72958393:C:T 16 72958393 C T 16:72992292 0.978789 1084 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Protozoal diseases 0.00116 3.5573 1.0948 ZFHX3 rs62620235 16:72958515:G:A 16 72958515 G A 16:72992414 0.971251 189 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Postzoster neuralgia 0.000634 19.5722 5.7284 MLKL rs33972728 16:74695757:T:C 16 74695757 T C 16:74729655 0.994603 9685 start_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of vestibular function (Vertigo) 0.000115 -0.2295 0.0595 0.0001649 -0.439 0.116 FA2H rs200545714 16:74714222:T:G 16 74714222 T G 16:74748120 0.99201 6185 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 35 Benign neoplasm: Ascending colon (other cancers excluded from controls) 0.000476 -0.6694 0.1916 Other vitreous opacities 0.0001314 9.655 2.525 FA2H rs147632811 16:74740048:C:T 16 74740048 C T 16:74773946 0.920391 147 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Lung diseases due to external agents 0.000209 4.6818 1.2626 FA2H rs141276237 16:74740049:G:A 16 74740049 G A 16:74773947 0.974389 223 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyhydramnios 0.00102 6.0289 1.8349 FA2H rs35874850 16:74740097:G:C 16 74740097 G C 16:74773995 0.996936 1452 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia;Spastic paraplegia 35;not specified Hydatidiform mole 0.00149 4.1468 1.3053 Human immunodeficiency virus [HIV] disease 0.0003486 191.71 53.606 CHST6 rs117435647 16:75479345:G:C 16 75479345 G C 16:75513243 0.976601 12412 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular corneal dystrophy Type I Benign neoplasm of breast 0.000566 0.3293 0.0955 Diseases of oesophagus, stomach and duodenum 0.0005187 0.366 0.105 TMEM231 rs182008317 16:75540017:A:C 16 75540017 A C 16:75573915 0.968908 710 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-small cell lung cancer, adenocarcinoma (other cancers excluded from controls) 0.00022 3.5871 0.9709 Salphingitis and oophoritis 0.0004177 13.008 3.687 TMEM231 rs186119649 16:75540018:G:T 16 75540018 G T 16:75573916 0.969995 716 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-small cell lung cancer, adenocarcinoma (other cancers excluded from controls) 0.000232 3.5517 0.9648 Salphingitis and oophoritis 0.0004177 13.008 3.687 TMEM231 rs199813223 16:75541410:C:G 16 75541410 C G 16:75575308 0.991994 259 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Metabolic disorders 0.00167 -0.7183 0.2285 TMEM231 rs3743601 16:75556194:G:C 16 75556194 G C 16:75590092 0.995713 0.0556551 1246 19201 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Coagulation defects, purpura and other haemorrhagic conditions 1.07e-05 0.3124 0.071 Major coronary heart disease event 0.0004906 0.318 0.091 KARS rs6834 16:75627905:G:C 16 75627905 G C 16:75661803 0.999506 0.0676533 1786 23069 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth, Intermediate;not specified Acute pharyngitis 5.81e-05 0.279 0.0694 Nontoxic single thyroid nodule 0.0004121 0.967 0.274 KARS rs144274136 16:75629481:T:C 16 75629481 T C 16:75663379 0.95157 388 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of eyelid in diseases classified elsewhere 0.000781 5.5666 1.657 KARS rs149772470 16:75631490:C:T 16 75631490 C T 16:75665388 0.982406 0.0016522 4 603 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease, recessive intermediate B;not provided;not specified Rash and other nonspecific skin eruption 6.42e-05 2.3641 0.5915 5.516e-05 1.74 0.432 KARS rs117188693 16:75635758:A:C 16 75635758 A C 16:75669656 0.976493 444 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atopic dermatitis 0.000426 1.149 0.3261 ADAMTS18 rs61749042 16:77284057:C:T 16 77284057 C T 16:77317954 0.981162 6607 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unsepecified deforming dorsopathies 0.000229 1.3406 0.3638 Unspecified diabetes with multiple/unspecified complications 0.0002711 7.51 2.062 ADAMTS18 rs149893700 16:77319893:G:A 16 77319893 G A 16:77353790 0.999186 545 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified cytomegaloviral diseases 0.000355 8.8434 2.4763 Alcohol dependence 0.0002483 14.571 3.977 ADAMTS18 rs35701343 16:77367582:G:A 16 77367582 G A 16:77401479 0.986763 1834 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epiphora 0.000316 3.0266 0.8402 Maternal care related to the fetus and amniotic cavity and possible delivery problems 7.614e-05 2.521 0.637 ADAMTS18 rs11643211 16:77367648:A:G 16 77367648 A G 16:77401545 0.997266 70148 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the ankle and foot 0.000771 -0.0582 0.0173 Other diseases caused by chlamydiae 0.0009328 0.59 0.178 ADAMTS18 rs200404040 16:77367657:C:T 16 77367657 C T 16:77401554 0.971139 97 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of male genital organs (other cancers excluded from controls) 0.00144 17.8786 5.6092 ADAMTS18 rs200952997 16:77434661:G:C 16 77434661 G C 16:77468558 0.95649 5805 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Poisoning by narcotics and psychodysleptics [hallucinogens] 0.0011 1.5893 0.4869 Other erythematous conditions 0.00098 10.764 3.266 WWOX rs144601717 16:78115038:C:T 16 78115038 C T 16:78148935 0.997 1729 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not provided;not specified Other symptoms and signs involving general sensations and perceptions 0.00129 2.0155 0.6264 Abnormal findings in nipple discharge synovial fluid wound secretions 0.0003555 207.112 57.997 WWOX rs141361080 16:78115103:C:T 16 78115103 C T 16:78149000 0.998255 3419 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not provided;not specified Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.000994 -0.2306 0.0701 Generalized epilepsy, mode (most common among epilepsy diagnosis) 0.0005363 14.194 4.1 WWOX rs140817689 16:78164241:G:T 16 78164241 G T 16:78198138 0.993397 1074 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not provided Sacroiliitis, not elsewhere classified 0.0023 2.2146 0.7266 Endocrine, nutritional and metabolic diseases 0 2.046 0 WWOX rs77067228 16:78278630:A:G 16 78278630 A G 16:78312527 0.995464 0.0843441 2632 28355 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant tumor of esophagus Injuries involving multiple body regions 2.36e-05 0.629 0.1488 Cerebral aneurysm, nonruptured 0.0003755 0.919 0.258 WWOX rs11545029 16:78386878:G:A 16 78386878 G A 16:78420775 0.995666 0.586312 126592 88812 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acquired absence of organs, not elsewhere classified 6.73e-05 -0.5741 0.144 0.0001815 -0.024 0.006 WWOX rs7201683 16:78424910:C:G 16 78424910 C G 16:78458807 0.989739 625 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Purpura and other haemorrhagic conditions 0.000879 1.7513 0.5264 WWOX rs75559202 16:78425018:C:G 16 78425018 C G 16:78458915 0.99171 922 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 0.000623 -0.3414 0.0998 WWOX rs186745328 16:78432512:G:T 16 78432512 G T 16:78466409 0.892991 0.000296689 0 109 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Alopecia areata 6.82e-05 23.9669 6.0179 WWOX rs3764340 16:78432540:C:G 16 78432540 C G 16:78466437 0.997721 21638 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Glomerular disorders in diseases classified elsewhere 0.00102 -0.2676 0.0814 Chronic sinusitis 0.0001361 0.41 0.107 WWOX rs201088847 16:79211685:C:T 16 79211685 C T 16:79245582 0.978299 3906 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 1;Malignant tumor of esophagus;Spinocerebellar ataxia, autosomal recessive 12;not specified Hernia of abodminal wall, postoperative 0.00103 0.5586 0.1702 Patellar tendinitis 0.003019 32.048 10.806 WWOX rs200839945 16:79211755:G:A 16 79211755 G A 16:79245652 0.976632 465 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other enthesopathies 0.000575 1.1824 0.3434 WWOX rs117065412 16:79211789:C:A 16 79211789 C A 16:79245686 0.992695 3368 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not provided;not specified Scleritis and episcleritis 0.000386 1.1909 0.3355 Other diseases of urinary system 0.0002735 1.144 0.314 WWOX rs199576434 16:79211790:C:T 16 79211790 C T 16:79245687 0.990105 6234 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 1;Spinocerebellar ataxia, autosomal recessive 12;not provided;not specified Ulcerative ileocolitis 0.00018 0.9389 0.2507 Injury of eye and orbit 0.001171 2.922 0.9 WWOX rs144412859 16:79211995:GGGGCT:G 16 79211995 GGGGCT G 16:79245892 0.944851 0.0185471 146 6668 LC recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Chalazion 5.67e-05 0.6108 0.1517 Melanoma in situ (other cancers excluded from controls) 5.939e-05 11.539 2.874 GCSH rs540997326 16:81096226:G:A 16 81096226 G A 16:81129831 0.915842 0.0104386 44 3791 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Non-ketotic hyperglycinemia Cerebral cysts 9.96e-05 1.333 0.3425 Cerebral cysts 0.0004621 14.252 4.07 BCO1 rs119478057 16:81264677:C:T 16 81264677 C T 16:81298282 0.972956 561 missense_variant dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Hypercarotenemia and vitamin a deficiency, autosomal dominant Osteomyelitis 0.000542 3.3241 0.961 Persons encountering health services for other counselling and medical advice, not elsewhere classified 8.61e-05 6.811 1.735 BCO1 rs143238312 16:81290348:G:C 16 81290348 G C 16:81323953 0.974979 3103 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Stomach 2e-04 0.9869 0.2654 Other crystal arthropathies 0.00145 54.96 17.259 BCO1 rs141781255 16:81290555:G:A 16 81290555 G A 16:81324160 0.992103 5356 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Fibromyalgia 0.000963 0.917 0.2778 Idiopathic urticaria 0.0001953 23.024 6.181 GAN rs144486241 16:81357902:C:T 16 81357902 C T 16:81391507 0.955073 276 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Giant axonal neuropathy;not provided Other diseases of anus and rectum 0.000396 1.7627 0.4975 Tobacco use 0.0001555 421.6 111.472 GAN rs146576740 16:81365421:C:T 16 81365421 C T 16:81399026 0.982174 284 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Burn and corrosion of shoulder and upper limb, except wrist and hand 0.00144 8.5775 2.6924 GAN rs79901179 16:81377486:C:G 16 81377486 C G 16:81411091 0.978527 4050 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Giant axonal neuropathy;not provided;not specified Contracture of joint 2e-04 2.3972 0.6446 Mixed hyperlipidaemia 0.0005658 13.712 3.977 PLCG2 rs199972098 16:81786000:C:T 16 81786000 C T 16:81819605 0.990054 282 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seborrhoeic dermatitis 0.00026 4.0877 1.1193 PLCG2 rs61749044 16:81786071:A:T 16 81786071 A T 16:81819676 0.973566 2187 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial cold autoinflammatory syndrome 3;not specified Ulcerative enterocolitis 0.000158 2.1078 0.558 Inflammatory diseases of female pelvic organs 0.0004738 3.078 0.881 PLCG2 rs11548656 16:81883307:A:G 16 81883307 A G 16:81916912 0.982698 16569 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial cold autoinflammatory syndrome 3;not provided Spondylopathies (FG) 0.0014 -0.2734 0.0856 Atrial fibrillation and flutter with reimbursement 0.0005819 -0.515 0.15 PLCG2 rs45443101 16:81889176:A:T 16 81889176 A T 16:81922781 0.977321 0.0433629 724 15207 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial cold autoinflammatory syndrome 3;not provided COPD, hospital admissions 8.29e-06 0.2389 0.0536 Pervasive developmental disorders excl. Autism + Asperger 0.0006462 5.272 1.545 PLCG2 rs1143687 16:81889208:C:T 16 81889208 C T 16:81922813 0.989017 18294 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Idiopathic thrombocytopenic purpura 0.00014 0.7248 0.1903 Synovial hypertrophy, not elsewhere classified 0.0001449 5.359 1.41 PLCG2 rs201652976 16:81895841:C:T 16 81895841 C T 16:81929446 0.961461 224 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Haemangioma, any site 0.00163 4.0295 1.2793 PLCG2 rs138637229 16:81895880:T:C 16 81895880 T C 16:81929485 0.988447 6184 stop_lost dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Small cell lung cancer 0.000607 1.6639 0.4854 Entropion and trichiasis of eyelid 0.001396 4.044 1.265 PLCG2 rs201654184 16:81895894:A:C 16 81895894 A C 16:81929499 0.852629 127 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Problems related to housing and economic circumstances 0.00065 17.21 5.0471 PLCG2 rs187956469 16:81905484:T:C 16 81905484 T C 16:81939089 0.925404 666 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the wrist and hand 0.000483 -0.5349 0.1533 PLCG2 rs72824905 16:81908423:C:G 16 81908423 C G 16:81942028 0.964582 0.00199517 0 733 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neuromuscular dysfuntion of bladder 1.72e-05 2.8066 0.6529 PLCG2 rs75472618 16:81908570:A:G 16 81908570 A G 16:81942175 0.921368 607 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injuries to the wrist and hand 0.000734 -0.5338 0.1581 PLCG2 rs147396004 16:81910645:C:T 16 81910645 C T 16:81944250 0.994804 759 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial cold autoinflammatory syndrome 3 Degeneration of macula and posterior pole 0.000616 0.8591 0.2509 Other and unspecified diseases of blood and blood-forming organs 0.0003278 209.605 58.348 PLCG2 rs150833842 16:81912673:A:G 16 81912673 A G 16:81946278 0.989324 433 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sleep apnoea 0.000568 0.7413 0.2151 PLCG2 rs142825971 16:81923501:A:G 16 81923501 A G 16:81957106 0.967454 697 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other benign neoplasm of uterus: Other parts/unspecified 0.00233 2.0903 0.6866 HSD17B2 rs117437228 16:82090913:A:G 16 82090913 A G 16:82124518 0.978361 4898 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of breast 0.000407 0.3084 0.0872 Glaucoma 0.002361 1.548 0.509 MPHOSPH6 rs34375324 16:82148813:T:C 16 82148813 T C 16:82182418 0.984935 1286 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unsepecified deforming dorsopathies 0.00336 2.7046 0.9224 Aphakia 0.001543 50.253 15.871 CDH13 rs72807847 16:82858432:A:G 16 82858432 A G 16:82892037 0.991422 1982 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Myopia 0.000291 1.0983 0.3031 Injuries to the thorax 0.0005201 5.52 1.591 CDH13 rs200199969 16:83032186:G:A 16 83032186 G A 16:83065791 0.994655 0.00060971 0 224 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of sciatic nerve 2.69e-05 7.7398 1.8436 CDH13 rs183971768 16:83032189:G:C 16 83032189 G C 16:83065794 0.980624 454 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fissure and fistula of anal and rectal regions 0.000188 1.3583 0.3636 CDH13 rs200000145 16:83602592:G:C 16 83602592 G C 16:83636197 0.992213 513 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sixth [abducent] nerve palsy 0.000105 5.9771 1.5407 CDH13 rs35549391 16:83670814:G:A 16 83670814 G A 16:83704419 0.973571 1062 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder (other cancers excluded from controls) 0.000234 3.1265 0.8498 Congenital malformations of uterus and cervix 0.000345 211.35 59.053 MLYCD rs200579941 16:83899350:C:T 16 83899350 C T 16:83932955 0.80418 148 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nummular dermatitis 0.000744 6.4223 1.9041 MLYCD rs138675420 16:83915051:G:T 16 83915051 G T 16:83948656 0.964093 440 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Care involving dialysis 0.0022 3.0614 1 OSGIN1 rs148139055 16:83957708:A:C 16 83957708 A C 16:83991313 0.877385 487 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Conjunctiva (other cancers excluded from controls) 0.000117 6.0607 1.5735 Chorioretinal inflammation 0.000813 96.205 28.732 MBTPS1 rs146299475 16:84056017:C:T 16 84056017 C T 16:84089622 0.988553 7151 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inguinal hernia 0.000501 0.1751 0.0503 Acute appendicitis, no complications 0.0003876 1.068 0.301 DNAAF1 rs200440212 16:84149105:G:A 16 84149105 G A 16:84182710 0.985758 349 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Erythema multiforme 0.000419 8.0311 2.2764 DNAAF1 rs111472069 16:84165838:C:G 16 84165838 C G 16:84199444 0.999363 20605 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Congenital malformations and deformations of the musculoskeletal system 0.000529 -0.3361 0.097 Melanocytic naevi of eyelid, including canthus (other cancers excluded from controls) 0.002594 3.47 1.152 DNAAF1 rs36062234 16:84169989:C:G 16 84169989 C G 16:84203595 0.996652 2542 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Other disorders of the genitourinary system 0.00024 0.939 0.2556 Nontoxic single thyroid nodule 0.001285 63.389 19.691 DNAAF1 rs17856705 16:84170006:A:G 16 84170006 A G 16:84203612 0.996229 90480 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cirrhosis, broad definition used in the article https://doi.org/10.1101/594523 0.000462 0.1342 0.0383 Other/unspecified enthesopathies, not elsewhere classified 0.001748 -0.115 0.037 DNAAF1 rs9972733 16:84170124:G:C 16 84170124 G C 16:84203730 0.991201 25316 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;Ciliary dyskinesia, primary, 13;not specified Other puerperal infections 0.000215 0.4207 0.1137 Benign neoplasm: Long bones of lower limb (other cancers excluded from controls) 0.000339 1.656 0.462 DNAAF1 rs149158199 16:84170131:G:A 16 84170131 G A 16:84203737 0.983126 6397 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified Metabolic disorders 0.000322 -0.1643 0.0457 Open wound of head 5.052e-05 1.84 0.454 DNAAF1 rs145680314 16:84170182:C:A 16 84170182 C A 16:84203788 0.934932 202 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes with renal complications 0.00167 4.3643 1.388 DNAAF1 rs11644164 16:84170333:C:T 16 84170333 C T 16:84203939 0.99587 82339 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Wide developmental disorders 0.00131 0.2915 0.0907 0.0001138 -0.04 0.01 DNAAF1 rs145973397 16:84174688:A:T 16 84174688 A T 16:84208294 0.991706 1685 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 0.000251 2.1635 0.5909 Type 2 diabetes without complications 2.333e-05 3.787 0.895 DNAAF1 rs142345677 16:84175984:G:A 16 84175984 G A 16:84209590 0.999245 1582 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified Other and unspecified injuries of ankle and foot 0.000103 2.8595 0.7362 Other specified and unspecified personality disorders 0.0002347 19.668 5.347 DNAAF1 rs34777958 16:84176003:C:T 16 84176003 C T 16:84209609 0.95936 706 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autoimmune diseases related-to ILD 0.00034 -0.5319 0.1485 DNAAF1 rs2288020 16:84176132:T:C 16 84176132 T C 16:84209738 0.999091 84814 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute sinusitis 0.000405 0.0578 0.0163 Primary gonarthrosis, bilateral 0.0006874 -0.069 0.02 DNAAF1 rs2288021 16:84176209:C:G 16 84176209 C G 16:84209815 0.991082 60594 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypotension 0.000117 0.1845 0.0479 Type 1 diabetes, wide definition, subgroup 2 0.0001041 0.796 0.205 DNAAF1 rs2288022 16:84176210:T:C 16 84176210 T C 16:84209816 0.999084 84859 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute sinusitis 0.000361 0.0583 0.0164 Primary gonarthrosis, bilateral 0.0007631 -0.068 0.02 DNAAF1 rs2288023 16:84176258:G:C 16 84176258 G C 16:84209864 0.999086 84815 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute sinusitis 0.00039 0.058 0.0163 Primary gonarthrosis, bilateral 0.0005806 -0.07 0.02 TAF1C rs2230129 16:84179828:A:T 16 84179828 A T 16:84213434 0.998935 86622 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postpartum care and examination 0.00137 0.1036 0.0324 Osteoporosis with pathological fracture (FG) 0.0005286 -0.206 0.06 KCNG4 rs140124801 16:84222522:C:T 16 84222522 C T 16:84256128 0.993348 2394 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified diabetes 0.000136 -0.7017 0.1839 Other and unspecified nail disorders 0.0007768 106.884 31.802 WFDC1 rs137903168 16:84294984:G:A 16 84294984 G A 16:84328590 0.977815 0.00333435 6 1219 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiovascular diseases 9.88e-05 -0.2913 0.0748 All influenza 0.0007164 17.631 5.211 WFDC1 rs11643870 16:84318346:G:A 16 84318346 G A 16:84351952 0.938457 0.00396039 12 1443 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Senile cataract 1.31e-05 -0.4654 0.1068 Maternal care for other conditions predominantly related to pregnancy 0.0005739 11.137 3.234 ATP2C2 rs78887288 16:84405221:G:A 16 84405221 G A 16:84438827 0.974635 0.00361743 12 1317 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Post-traumatic wound infection, not elsewhere classified 6.67e-05 4.4929 1.1267 Open wound of wrist and hand 8.882e-05 7.302 1.863 ATP2C2 rs78371901 16:84408489:G:A 16 84408489 G A 16:84442095 0.973864 3692 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of bladder (other cancers excluded from controls) 0.000258 0.9615 0.2631 Suppurative and unspecified otitis media 0.0001461 3.142 0.827 ATP2C2 rs200318788 16:84451944:G:A 16 84451944 G A 16:84485550 0.984713 962 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of the circulatory system 0.000747 1.3328 0.3953 Melanocytic naevi, other sites/unspecified (other cancers excluded from controls) 0.0008235 96.735 28.921 ATP2C2 rs62050917 16:84460709:C:T 16 84460709 C T 16:84494315 0.981029 636 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nystagmus and other irregular eye movements 0.00271 6.9301 2.3111 Congenital iodine-deficiency syndrome/hypothyroidism 0.0008201 96.097 28.721 ATP2C2 rs4782970 16:84461712:A:C 16 84461712 A C 16:84495318 0.997668 6477 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of eyelid 0.00129 -0.2476 0.077 Spinal stenosis 0.0005923 1.045 0.304 TLDC1 rs113746582 16:84479954:G:A 16 84479954 G A 16:84513560 0.996068 627 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified mental retardation 0.00049 7.6211 2.1859 CRISPLD2 rs138500867 16:84849457:C:A 16 84849457 C A 16:84883063 0.963699 557 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of other endocrine glands 0.000365 0.8763 0.2458 CRISPLD2 rs139975503 16:84880571:A:G 16 84880571 A G 16:84914177 0.956654 1830 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (Early onset) (more controls excluded) 0.000682 1.7406 0.5124 GSE1 rs151194801 16:85655727:A:T 16 85655727 A T 16:85689333 0.970365 182 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral hepatitis, IBD co-morbidity 0.000394 7.5322 2.1253 C16orf74 rs911680439 16:85710232:ACGTCCAGGTGCTTGTCGTTC:A 16 85710232 ACGTCCAGGTGCTTGTCGTTC A 16:85743838 0.896519 221 pLoF unknown not provided not_provided no assertion provided none Contact with and exposure to communicable diseases 0.000153 4.5972 1.2143 IRF8 rs145048966 16:85909102:C:T 16 85909102 C T 16:85942708 0.989921 714 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of cervix uteri (other cancers excluded from controls) 0.00209 1.5618 0.5074 IRF8 rs144424711 16:85918417:C:T 16 85918417 C T 16:85952023 0.966433 1233 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immunodeficiency 32a;Immunodeficiency 32b;Immunodeficiency 32b Viral infections of the central nervous system 0.000293 1.7471 0.4824 Glaucoma suspect 0.005704 16.839 6.091 IRF8 rs142267779 16:85918539:T:C 16 85918539 T C 16:85952145 0.910645 266 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anxious personality disorder 0.000396 12.7602 3.6019 FBXO31 rs34412175 16:87334102:C:T 16 87334102 C T 16:87367708 0.979898 3026 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Adjustment and management of implanted device 0.000494 0.7549 0.2167 Ischaemic Stroke, excluding all haemorrhages 0.002178 6.592 2.151 MAP1LC3B rs113610787 16:87398847:G:C 16 87398847 G C 16:87432453 0.98299 1374 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified visual disturbances 0.00018 2.051 0.5477 Iliotibial band syndrome 0.000574 131.72 38.251 JPH3 rs142120839 16:87644432:C:A 16 87644432 C A 16:87678038 0.932495 245 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Biomechanical lesions, not elsewhere classified 1e-04 7.9935 2.0546 JPH3 rs200608117 16:87644983:G:A 16 87644983 G A 16:87678589 0.900425 407 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Localized swelling, mass and lump of skin and subcutaneous tissue 0.000666 1.508 0.4431 Dorsopathies 0 2.485 0 CA5A rs146136907 16:87891824:T:C 16 87891824 T C 16:87925430 0.944807 0.00203599 6 742 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Burn and corrosion of hip and lower limb, except ankle and foot 8.13e-05 6.7294 1.7077 Burn and corrosion of hip and lower limb, except ankle and foot 0.0009599 124.207 37.615 CA5A rs200681449 16:87936371:G:C 16 87936371 G C 16:87969977 0.986583 2810 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tubulo-interstitial nephritis, not spesified as acute or chronic 0.000364 1.044 0.2929 Retinal haemorrhage 0.0007354 63.444 18.793 ZNF469 rs1004428835 16:88427489:C:T 16 88427489 C T 16:88493897 0.923874 0.00412915 18 1499 LC recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter not provided Other specified/unspecified hearing loss 3.06e-05 1.9883 0.4769 Coronary atherosclerosis 0.002636 1.818 0.605 ZNF469 rs145178398 16:88427532:G:A 16 88427532 G A 16:88493940 0.928549 1278 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified Female infertility, associated with anovulation 0.00201 1.4769 0.4781 Benign neoplasm: Larynx (other cancers excluded from controls) 0.0002956 153.899 42.524 ZNF469 rs11648572 16:88428539:T:C 16 88428539 T C 16:88494947 0.991686 14947 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Faecal incontinence 0.000623 -0.4117 0.1203 Faecal incontinence 0.0002472 -0.23 0.063 ZNF469 rs11640794 16:88428568:A:C 16 88428568 A C 16:88494976 0.994622 35224 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified haematuria 0.00159 0.1067 0.0338 0.0002783 -0.168 0.046 ZNF469 rs113937803 16:88428755:G:A 16 88428755 G A 16:88495163 0.993155 22254 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified Other secondary gonarthrosis 0.000167 0.5004 0.1329 Melanocytic naevi, other sites/unspecified (other cancers excluded from controls) 4.385e-05 1.607 0.393 ZNF469 rs117555121 16:88428941:G:A 16 88428941 G A 16:88495349 0.993211 18748 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided;not specified Other secondary gonarthrosis 0.000543 0.4988 0.1442 Other specified/unspecified necrotizing vasculopathies 0.000293 4.505 1.244 ZNF469 rs28723506 16:88428959:G:A 16 88428959 G A 16:88495367 0.959516 37352 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deforming dorsopathies 0.000524 -0.1348 0.0389 Decubitus ulcer and pressure area 0.0009661 0.738 0.224 ZNF469 rs189476639 16:88429085:A:T 16 88429085 A T 16:88495493 0.90217 839 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided;not specified Hernia 0.000187 -0.4571 0.1224 Other acute viral hepatitis 0.001012 137.454 41.817 ZNF469 rs181785233 16:88429167:C:T 16 88429167 C T 16:88495575 0.959514 5416 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified Actinic keratosis 0.000475 0.3686 0.1055 Presence of other functional implants 0.0003604 1.686 0.473 ZNF469 rs184583062 16:88429464:C:T 16 88429464 C T 16:88495872 0.964751 3529 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided;not specified Other and unspecified injuries of abdomen, lower back and pelvis 0.00025 3.0831 0.8418 Lichen sclerosus et atrophicus 0.001136 9.605 2.951 ZNF469 rs753664726 16:88429740:T:G 16 88429740 T G 16:88496148 0.945015 1675 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided Other and unspecified degenerative diseases of nervous system 0.000109 4.0608 1.0497 Anoxic brain damage 0.001081 78.887 24.135 ZNF469 rs139653501 16:88430123:C:G 16 88430123 C G 16:88496531 0.969939 1534 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Degeneration of the brain due to alcohol 0.000124 3.4636 0.9026 Dementia due to Parkinsons disease 0.0004755 147.344 42.168 ZNF469 rs273585618 16:88430169:C:T 16 88430169 C T 16:88496577 0.939735 0.00758326 26 2760 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;Keratoconus 1;not provided Other and unspecidied mood [affective] disorders 2.62e-05 1.303 0.3099 Primary_lymphoid and hematopoietic malignant neoplasms 0.0001979 8.082 2.172 ZNF469 rs77951481 16:88430187:C:T 16 88430187 C T 16:88496595 0.968577 1996 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided;not specified Disorders of synovium and tendon in diseases classified elsewhere 0.0014 2.745 0.8595 Bullous pemphigoid 0.0003065 237.925 65.912 ZNF469 rs568046708 16:88430811:G:T 16 88430811 G T 16:88497219 0.817349 342 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Blepharochalasis 0.000213 1.809 0.4885 ZNF469 rs7197071 16:88431038:A:G 16 88431038 A G 16:88497446 0.9717 37737 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Special screening examination for infectious and parasitic diseases 0.00107 -0.11 0.0336 Disorders of calcium metabolism 0.0007269 -0.186 0.055 ZNF469 rs141255631 16:88431243:C:A 16 88431243 C A 16:88497651 0.832263 303 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided;not specified Dislocation, sprain and strain of joints and ligaments of knee 0.0011 0.8748 0.268 Lesion of radial nerve 0.0005605 106.7 30.927 ZNF469 rs772817384 16:88431420:A:G 16 88431420 A G 16:88497828 0.954044 1426 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided;not specified Other external causes of accidental injury 0.000661 1.3645 0.4007 Anankastic personality disorder 0.001732 53.157 16.968 ZNF469 rs557997233 16:88431686:G:T 16 88431686 G T 16:88498094 0.976511 0.0052288 20 1901 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Labour and delivery complicated by umbilical cord complications 8.93e-05 2.523 0.644 Meniscus derangement 0.0002335 3.493 0.949 ZNF469 rs4782300 16:88431813:C:T 16 88431813 C T 16:88498221 0.989731 45920 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified dorsopathies 0.000105 -0.383 0.0988 Other specified/unspecified dorsopathies 9.82e-05 -0.216 0.055 ZNF469 rs199897247 16:88431891:C:T 16 88431891 C T 16:88498299 0.964402 1862 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified Acute lymphadenitis 0.00073 1.317 0.3899 Dronedarone medication 0.001242 58.296 18.053 ZNF469 rs375045076 16:88431942:C:T 16 88431942 C T 16:88498350 0.883677 322 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Torticollis 0.000385 9.3278 2.6274 ZNF469 rs755244502 16:88432362:G:A 16 88432362 G A 16:88498770 0.939102 679 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Biliary chirrosis, primary 0.000201 5.2259 1.4058 ZNF469 rs199932922 16:88433018:C:A 16 88433018 C A 16:88499426 0.956354 343 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Urticaria and erythema 0.0013 1.1626 0.3614 ZNF469 rs13334190 16:88433940:G:A 16 88433940 G A 16:88500348 0.868578 11081 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified Malignant neoplasm of breast 0.00106 0.1969 0.0601 Hereditary retinal dystrophy 6.322e-05 11.46 2.865 ZNF469 rs76389306 16:88434549:C:T 16 88434549 C T 16:88500957 0.894188 300 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Haemolytic anaemias 0.0019 6.3819 2.0547 ZNF469 rs12598474 16:88434626:G:C 16 88434626 G C 16:88501034 0.989778 0.426258 66744 89858 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic sinusitis 6.2e-06 0.0847 0.0187 Asthma and opportunit respiratory infection 0.0002103 0.246 0.066 ZNF469 rs199727372 16:88434737:C:A 16 88434737 C A 16:88501145 0.815566 34 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ischaemic Stroke, excluding all haemorrhages 0.000201 4.3119 1.1597 ZNF469 rs547492890 16:88434936:G:A 16 88434936 G A 16:88501344 0.939983 3145 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Postpartum care and examination 0.00106 -0.5743 0.1754 Weight loss 2.62e-06 29.074 6.188 ZNF469 rs141218390 16:88434978:C:A 16 88434978 C A 16:88501386 0.979482 0.111955 4650 36481 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spontaneous rupture of synovium and tendon 4.91e-05 0.3134 0.0772 Pain in throat and chest 0.0007078 -0.128 0.038 ZNF469 rs146789160 16:88435145:A:G 16 88435145 A G 16:88501553 0.975533 1586 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Anorexia (incl.atypical) 0.000471 1.4899 0.4261 0.00618 15.246 5.568 ZNF469 rs3812956 16:88435563:T:A 16 88435563 T A 16:88501971 0.985135 0.41451 63160 89126 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic sinusitis 8.61e-06 0.0839 0.0189 Asthma and opportunit respiratory infection 0.0003185 0.245 0.068 ZNF469 rs3812955 16:88435682:G:A 16 88435682 G A 16:88502090 0.990002 10526 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified Infections with a predominantly sexual mode of transmission 0.00024 0.2312 0.0629 Unspecified lump in breast 7.422e-06 2.298 0.513 ZNF469 rs3812954 16:88435800:A:T 16 88435800 A T 16:88502208 0.957344 35825 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Radial styloid tenosynovitis [de Quervain] 0.00017 0.358 0.0952 Temporomandibular joint disorders 0.001617 0.326 0.104 ZNF469 rs536725615 16:88436175:C:T 16 88436175 C T 16:88502583 0.922053 754 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not provided Cough 0.000328 0.7837 0.2182 Benign neoplasm: Short bones of upper limb (other cancers excluded from controls) 0.000324 224.846 62.539 ZNF469 rs536601676 16:88436838:G:A 16 88436838 G A 16:88503246 0.953653 0.0183131 144 6584 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified Death due to cardiac causes 3.63e-05 0.3048 0.0738 Gonarthrosis [arthrosis of knee](FG) 3.839e-05 0.939 0.228 ZNF469 rs199528724 16:88437795:G:C 16 88437795 G C 16:88504203 0.950763 5620 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified Lack of expected normal physiological development 0.000107 1.5087 0.3895 Other infectious diseases 0.0007325 5.309 1.572 ZNF469 rs56236932 16:88437796:G:C 16 88437796 G C 16:88504204 0.933303 1196 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified Benign neoplasm: Skin of trunk 0.000243 2.5013 0.6816 Benign neoplasm: Skin of trunk 3.202e-05 44.045 10.591 ZNF469 rs532857190 16:88437797:G:C 16 88437797 G C 16:88504205 0.873744 1171 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Iron deficiency anaemia secondary to blood loss (chronic) 0.0016 1.0195 0.323 Carcinoma in situ of skin of upper limb, including shoulder (other cancers excluded from controls) 0.0001651 107.239 28.467 ZNF469 rs75288466 16:88437831:G:A 16 88437831 G A 16:88504239 0.939477 2852 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Other and unspecified visual disturbances 0.000415 1.2479 0.3535 Disorders of vestibular function (Vertigo) 0.0022 2.984 0.974 ZNF469 rs1105066 16:88438442:G:C 16 88438442 G C 16:88504850 0.98131 0.452511 75458 90789 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain in throat and chest 2.36e-05 0.0508 0.012 Asthma and opportunit respiratory infection 0.001218 0.205 0.063 ZNF469 rs3812951 16:88438445:G:A 16 88438445 G A 16:88504853 0.968039 367 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal fragility keratoglobus, blue sclerae AND joint hypermobility;not specified Other degenerative diseases of the nervous system 0.000716 1.3237 0.3912 Other/unspecified disorders of vestibular function 0.0009582 119.409 36.157 CYBA rs760275837 16:88643411:C:CCCG 16 88643411 C CCCG 16:88709819 0.962641 0.000672314 2 245 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified visual disturbances 6.42e-06 8.0379 1.7815 CYBA rs1049254 16:88643420:A:G 16 88643420 A G 16:88709828 0.990868 0.643946 152746 83832 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins 2.06e-05 0.065 0.0153 Varicose veins 0.0003075 0.038 0.01 CYBA rs12123 16:88643560:A:G 16 88643560 A G 16:88709968 0.963855 14479 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative;not specified Acute laryngitis and tracheitis 0.000162 0.3459 0.0917 Abnormal findings in secretions and smears from cervix uteri vagina vulva 0.002068 0.496 0.161 CYBA rs4673 16:88646828:A:G 16 88646828 A G 16:88713236 0.998545 58041 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tic disorders 0.000154 0.6093 0.161 Tic disorders 7.546e-05 0.386 0.098 CYBA rs11547387 16:88647125:T:G 16 88647125 T G 16:88713533 0.85233 175 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Traumatic ischaemia of muscle 0.00289 16.0222 5.3788 CTU2 rs147948789 16:88709982:T:C 16 88709982 T C 16:88776390 0.975332 0.000587934 0 216 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Other benign neoplasm of uterus: Other parts/unspecified (other cancers excluded from controls) 3.24e-05 6.3541 1.5289 CTU2 rs61730419 16:88714412:G:A 16 88714412 G A 16:88780820 0.955344 0.000688645 0 253 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Recurrent dislocation and subluxation of joint 3.52e-05 5.1779 1.2517 CTU2 rs142662688 16:88714683:G:C 16 88714683 G C 16:88781091 0.988419 0.00068048 0 250 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Anus and anal canal 2.77e-05 10.661 2.5436 PIEZO1 rs61745086 16:88715642:G:A 16 88715642 G A 16:88782050 0.926511 415 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injuries involving multiple body regions 0.000271 6.1195 1.6804 PIEZO1 rs34830861 16:88715666:T:C 16 88715666 T C 16:88782074 0.996588 9807 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postprocedural endocrine and metabolic disorders, not elsewhere classified 0.000583 0.466 0.1355 Other joint disorders 0.0007068 -0.434 0.128 PIEZO1 rs1061228 16:88715671:G:A 16 88715671 G A 16:88782079 0.991329 45070 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified mononeuropathies of lower limb 0.00127 -0.3504 0.1088 Chronic laryngitis and laryngotracheitis 0.0007206 0.312 0.092 PIEZO1 rs35544968 16:88715809:G:A 16 88715809 G A 16:88782217 0.983249 13631 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Injury of intra-abdominal organs 0.000232 0.9044 0.2457 Functional dyspepsia 2.352e-05 1.188 0.281 PIEZO1 rs200555745 16:88716580:C:T 16 88716580 C T 16:88782988 0.98793 0.00156782 0 576 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Keratoconus 2.91e-05 7.7955 1.8649 PIEZO1 rs1803382 16:88716692:T:C 16 88716692 T C 16:88783100 0.989261 74874 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.000251 0.0544 0.0149 Peripheral artery disease 0.0003716 0.097 0.027 PIEZO1 rs200929552 16:88720689:C:T 16 88720689 C T 16:88787097 0.915724 226 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polycystic ovarian syndrome 0.00101 6.8727 2.0905 PIEZO1 rs150376294 16:88721199:CCTT:C 16 88721199 CCTT C 16:88787607 0.988566 0.305043 34232 77837 inframe_indel both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peripheral artery disease 6.56e-05 0.0919 0.023 Peripheral artery disease 1.136e-05 0.114 0.026 PIEZO1 rs35159887 16:88721265:G:A 16 88721265 G A 16:88787673 0.988971 0.301515 33432 77341 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peripheral artery disease 4.66e-05 0.0941 0.0231 Peripheral artery disease 1.532e-05 0.114 0.026 PIEZO1 rs77170706 16:88721319:C:T 16 88721319 C T 16:88787727 0.992354 0.0123874 62 4489 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sicca syndrome [Sjogren] 6.98e-06 1.0188 0.2267 Other respiratory disorders and diseases 0.001856 3.771 1.212 PIEZO1 rs78574543 16:88721373:C:T 16 88721373 C T 16:88787781 0.997869 0.0126569 64 4586 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sicca syndrome [Sjogren] 6.22e-06 1.0117 0.2239 Other respiratory disorders and diseases 0.002123 3.606 1.174 PIEZO1 rs534283978 16:88722592:G:A 16 88722592 G A 16:88789000 0.94777 1119 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectum 0.000466 1.3242 0.3784 Gastric ulcer 2.271e-05 36.543 8.626 PIEZO1 rs148870219 16:88722925:C:T 16 88722925 C T 16:88789333 0.993084 0.0115409 34 4206 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Valvular operations 6.36e-05 0.1951 0.0488 Visual field defects 0.001118 9.733 2.986 PIEZO1 rs11281795 16:88723258:G:GCCTGCT 16 88723258 G GCCTGCT 16:88789666 0.9819 13501 inframe_indel both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of intra-abdominal organs 0.000216 0.9126 0.2467 Functional dyspepsia 2.608e-05 1.185 0.282 PIEZO1 rs188337046 16:88723279:C:T 16 88723279 C T 16:88789687 0.981076 0.045192 800 15803 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins 1.9e-08 -0.2007 0.0357 3.084e-06 3.547 0.76 PIEZO1 rs191656121 16:88723301:C:T 16 88723301 C T 16:88789709 0.951532 593 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pustulosis palmaris et plantaris 0.000779 3.9081 1.163 PIEZO1 rs11645197 16:88725050:G:A 16 88725050 G A 16:88791458 0.986897 0.29741 32524 76741 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peripheral artery disease 2.62e-05 0.0976 0.0232 Peripheral artery disease 1.67e-05 0.115 0.027 PIEZO1 rs756582306 16:88725053:G:A 16 88725053 G A 16:88791461 0.928264 266 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute upper respiratory infections of multiple and unspecified sites 0.00231 -0.7333 0.2406 PIEZO1 rs185326407 16:88726747:C:T 16 88726747 C T 16:88793155 0.969309 333 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tongue abnormality 0.000439 4.3962 1.2505 PIEZO1 rs372935580 16:88726812:G:A 16 88726812 G A 16:88793220 0.978308 1185 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Abnormal spermatozoa 0.00203 1.4748 0.4779 Cervical root disorders 0.0002205 315.106 85.297 PIEZO1 rs202103485 16:88733652:C:T 16 88733652 C T 16:88800060 0.994271 3943 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Xerocytosis;not provided Abnormal blood-pressure reading, without diagnosis 0.000138 1.6059 0.4213 Benign neoplasm: Connective and other soft tissue of head, face and neck 0.000217 22.062 5.965 PIEZO1 rs200029740 16:88733666:C:G 16 88733666 C G 16:88800074 0.982202 262 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other disorders of urethra and urinary system 0.000127 1.0171 0.2654 PIEZO1 rs200970763 16:88733731:C:T 16 88733731 C T 16:88800139 0.993356 3933 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Xerocytosis;not provided Abnormal blood-pressure reading, without diagnosis 0.000133 1.6138 0.4224 Benign neoplasm: Connective and other soft tissue of head, face and neck 0.0002347 21.239 5.774 PIEZO1 rs146505418 16:88735213:G:A 16 88735213 G A 16:88801621 0.907635 0.000342962 0 126 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified hearing loss 1.34e-05 11.6146 2.6681 PIEZO1 rs13333358 16:88736716:T:C 16 88736716 T C 16:88803124 0.994162 87920 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute alcohol intoxication 0.000213 0.1117 0.0302 8.555e-05 -0.035 0.009 PIEZO1 rs6500493 16:88737574:C:G 16 88737574 C G 16:88803982 0.978986 0.725827 194058 72602 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 2.37e-05 -0.0637 0.0151 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.0001188 -0.037 0.01 PIEZO1 rs112081600 16:88737941:G:T 16 88737941 G T 16:88804349 0.975333 0.0119955 76 4331 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Supervision of normal pregnancy 1.82e-05 -0.3046 0.0711 Pneumococcal septichemia 0.000459 15.57 4.444 PIEZO1 rs139099911 16:88737956:C:T 16 88737956 C T 16:88804364 0.923978 368 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Beningn neoplasm: Meninges, unspecified (other cancers excluded from controls) 0.000264 12.865 3.5259 PIEZO1 rs7184427 16:88738326:A:G 16 88738326 A G 16:88804734 0.990994 0.857227 270348 44587 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins 1.45e-19 -0.1874 0.0207 Varicose veins 3.668e-16 -0.095 0.012 PIEZO1 rs7404939 16:88741488:G:A 16 88741488 G A 16:88807896 0.993057 0.113833 5070 36751 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins 1.56e-18 0.2005 0.0228 Varicose veins 4.432e-06 0.199 0.043 PIEZO1 rs6500495 16:88742335:A:G 16 88742335 A G 16:88808743 0.992311 0.878551 283850 38919 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins 1.05e-19 -0.2016 0.0222 Varicose veins 5.366e-18 -0.106 0.012 CDT1 rs561655241 16:88804016:C:T 16 88804016 C T 16:88870424 0.98579 0.0472226 966 16383 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Varicose veins 3.75e-08 0.1887 0.0343 Ocular pain 0.0009815 1.543 0.468 CDT1 rs139038990 16:88804564:C:T 16 88804564 C T 16:88870972 0.963713 16329 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular diseases 0.000106 -0.0787 0.0203 Synovial cyst of popliteal space [Baker] 0.001053 1.639 0.5 CDT1 rs145552478 16:88805564:G:A 16 88805564 G A 16:88871972 0.961565 0.0005961 0 219 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other specified/unspecified hearing loss 5.45e-05 7.2201 1.7891 CDT1 rs148337159 16:88805795:G:A 16 88805795 G A 16:88872203 0.967136 446 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Osteomyelitis 0.000768 3.506 1.0422 Hallux rigidus 4.518e-10 11.173 1.792 CDT1 rs480727 16:88805821:A:G 16 88805821 A G 16:88872229 0.998409 82267 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of veins 0.00106 0.0768 0.0235 3.838e-05 -0.057 0.014 CDT1 rs144843732 16:88808268:A:T 16 88808268 A T 16:88874676 0.892587 108 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Exfoliative dermatitis 0.00043 32.0955 9.1153 APRT rs4695 16:88809520:T:C 16 88809520 T C 16:88875928 0.990993 13617 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adenine phosphoribosyltransferase deficiency;Morquio syndrome Unspecified diabetes with multiple/unspecified complications 0.000782 0.6744 0.2008 Other degenerative diseases of the nervous system 0.0009607 0.758 0.229 GALNS rs2303269 16:88824832:C:A 16 88824832 C A 16:88891240 0.99253 19866 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Morquio syndrome;not provided;not specified Labour and delivery complicated by umbilical cord complications 2e-04 0.5871 0.1579 Benign neoplasm: Middle ear, nasal cavity and accessory sinuses 0.000194 2.171 0.582 GALNS rs34745339 16:88835791:G:C 16 88835791 G C 16:88902199 0.991654 9371 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Morquio syndrome;not provided;not specified Trigger finger 0.000487 0.4123 0.1182 Other nutritional anaemias 0.0007568 12.242 3.635 GALNS rs150582627 16:88841090:G:A 16 88841090 G A 16:88907498 0.981941 0.000966281 0 355 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorder of thyroid, unspecified 6.58e-05 13.2305 3.3152 GALNS rs34278797 16:88841898:G:A 16 88841898 G A 16:88908306 0.995126 0.0137185 78 4962 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Morquio syndrome;not provided;not specified Proliferative diabetic retinopathy 7.74e-05 0.7911 0.2002 Undefined dementia 0.001704 3.569 1.137 GALNS rs34150867 16:88855226:C:G 16 88855226 C G 16:88921634 0.989305 0.246954 22878 67850 pLoF recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 2.36e-05 0.0555 0.0131 0.0001904 0.041 0.011 ACSF3 rs7188200 16:89100686:T:C 16 89100686 T C 16:89167094 0.999629 64709 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of mouth and pharynx (other cancers excluded from controls) 0.000264 -0.1728 0.0473 Intermittent heterotropia 0.0006052 0.145 0.042 ACSF3 rs11547019 16:89100730:G:C 16 89100730 G C 16:89167138 0.997255 32322 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Superficial injury of shoulder and upper arm 0.00203 -0.2279 0.0739 Superficial injury of abdomen, lower back and pelvis 1.846e-06 0.706 0.148 ACSF3 rs137995833 16:89133197:G:C 16 89133197 G C 16:89199605 0.932533 405 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of other sites/unspecified 0.000316 2.6714 0.7417 ACSF3 rs200971130 16:89145294:A:G 16 89145294 A G 16:89211702 0.96411 1326 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diaphragmatic hernia 0.000283 0.7062 0.1945 Benign neoplasm: Rectum/anal canal icd-9 (other cancers excluded from controls) 0.0003146 268.687 74.575 ACSF3 rs144681140 16:89145306:G:A 16 89145306 G A 16:89211714 0.986799 1719 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Combined malonic and methylmalonic aciduria;not provided;not specified Monoplegia 0.000126 4.7331 1.2342 Erythema intertrigo 0.0005088 133.347 38.361 ACSF3 rs141090143 16:89154148:C:T 16 89154148 C T 16:89220556 0.989962 700 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Eosinophilic disease (BM) 0.00109 6.0942 1.8659 CDH15 rs2287359 16:89179482:G:T 16 89179482 G T 16:89245890 0.993318 16249 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Epidural haemorrhage 0.000311 1.3239 0.3672 Retinal vein occlusion (central or branch) 0.001202 2.936 0.907 CDH15 rs75791347 16:89192339:A:C 16 89192339 A C 16:89258747 0.996487 91728 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified maternal hypertension 0.000138 0.5196 0.1363 Other congenital malformations of peripheral vascular system 0.0007385 0.398 0.118 CDH15 rs2270416 16:89195074:C:A 16 89195074 C A 16:89261482 0.999389 36627 LC dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Superficial injury of shoulder and upper arm 0.00142 -0.2211 0.0693 Superficial injury of abdomen, lower back and pelvis 3.342e-05 0.507 0.122 ANKRD11 rs4785560 16:89279414:G:C 16 89279414 G C 16:89345822 0.99407 25705 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases caused by chlamydiae 0.00176 0.7193 0.2299 Pediculosis, acariasis and other infestations 0.0002182 1.285 0.348 ANKRD11 rs76793093 16:89279755:G:A 16 89279755 G A 16:89346163 0.995805 0.117102 5114 37908 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Desensitization to allergens 6.42e-05 0.3807 0.0953 Sensorineural hearing loss 0.000115 0.162 0.042 ANKRD11 rs117997391 16:89280366:G:T 16 89280366 G T 16:89346774 0.985087 13822 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatitis and eczema 0.000385 0.1152 0.0325 Respiratory tuberculosis 0.00126 2.152 0.667 ANKRD11 rs60520302 16:89280475:C:G 16 89280475 C G 16:89346883 0.994388 0.117326 5154 37950 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Desensitization to allergens 7.43e-05 0.3768 0.0951 Sensorineural hearing loss 0.0001309 0.16 0.042 ANKRD11 rs145906515 16:89281033:G:A 16 89281033 G A 16:89347441 0.969589 2124 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other/unspecified rheumatoid arthritis 0.000106 1.0353 0.2671 Osteonecrosis 0.002519 37.43 12.39 ANKRD11 rs75362060 16:89281204:C:T 16 89281204 C T 16:89347612 0.963835 164 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Campylobacter enteritis 0.000812 10.7413 3.2075 ANKRD11 rs113527563 16:89281630:G:C 16 89281630 G C 16:89348038 0.997276 18409 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular syndromes of brain in cerebrovascular disorders 0.000585 0.5234 0.1522 Injury of nerves at wrist and hand level 0.0006819 2.003 0.59 ANKRD11 rs2279348 16:89283630:G:A 16 89283630 G A 16:89350038 0.999523 88142 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bacterial diseases 0.000323 0.0444 0.0123 Abdominal and pelvic pain 0.0003568 0.022 0.006 ANKRD11 rs145694621 16:89284503:G:C 16 89284503 G C 16:89350911 0.956339 4159 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspcified rosacea 0.0012 0.841 0.2596 Rosacea 0.0009122 6.64 2.002 SPG7 rs768823392 16:89546656:AGGAGAGGCG:A 16 89546656 AGGAGAGGCG A 16:89613064 0.949128 532 pLoF both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Juvenile osteochondrosis 0.000931 4.1349 1.249 SPG7 rs111475461 16:89546665:G:A 16 89546665 G A 16:89613073 0.816143 0.00170936 2 626 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm of ovary 3.87e-05 1.7579 0.4272 SPG7 rs2292954 16:89546715:A:G 16 89546715 A G 16:89613123 0.999927 33645 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia 7;not specified Convulsions, not elsewhere classified 0.000572 -0.1405 0.0408 Diabetes mellitus in pregnancy 0.0005681 0.275 0.08 SPG7 rs61755320 16:89546737:C:T 16 89546737 C T 16:89613145 0.989378 333 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Phakomatoses, not elsewhere classified 0.000308 14.711 4.0766 SPG7 rs2099104 16:89553132:T:A 16 89553132 T A 16:89619540 0.924186 144 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of nerves at forearm level 0.00164 17.2336 5.4734 SPG7 rs74590011 16:89553778:C:G 16 89553778 C G 16:89620186 0.899305 173 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 0.000205 0.8508 0.2291 SPG7 rs12960 16:89553920:G:A 16 89553920 G A 16:89620328 0.999537 33528 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia 7;not specified Convulsions, not elsewhere classified 0.00037 -0.1458 0.041 Diabetes mellitus in pregnancy 0.0005329 0.279 0.081 CHMP1A rs117555004 16:89645966:A:C 16 89645966 A C 16:89712374 0.998539 10075 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected disproportion 0.00138 0.6077 0.1899 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.0003219 -0.624 0.174 CHMP1A rs116954456 16:89645972:G:A 16 89645972 G A 16:89712380 0.998557 10077 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected disproportion 0.00139 0.607 0.1899 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.0003219 -0.624 0.174 ZNF276 rs17227424 16:89738216:G:C 16 89738216 G C 16:89804624 0.98112 19929 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fanconi anemia Varicose veins 0.00037 0.1102 0.031 Focal epilepsy 0.001444 1.455 0.457 FANCA rs17227403 16:89738893:G:C 16 89738893 G C 16:89805301 0.985513 4361 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fanconi anemia;not specified Haemangioma and lymphangioma, any site (other cancers excluded from controls) 0.00035 0.8044 0.225 Inguinal hernia 9.283e-05 1.656 0.424 FANCA rs139478274 16:89738917:G:A 16 89738917 G A 16:89805325 0.989031 219 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Internar derangement of knee 0.000311 1.0251 0.2843 FANCA rs191404781 16:89739087:G:A 16 89739087 G A 16:89805495 0.911351 202 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lens 0.00215 -0.7557 0.2462 FANCA rs9282681 16:89739506:T:C 16 89739506 T C 16:89805914 0.999504 0.0598441 1394 20592 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 6.99e-08 0.1975 0.0366 Cardiomyopathy, other and unspecified 0.0007233 0.942 0.279 FANCA rs17227354 16:89740069:C:T 16 89740069 C T 16:89806477 0.996563 3206 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;Fanconi anemia, complementation group A;not specified Heterophoria 0.000189 1.0615 0.2844 Follow-up examination after treatment for conditions other than malignant neoplasms 0.0001698 3.176 0.845 ZNF276 rs776077648 16:89740108:C:T 16 89740108 C T 16:89806516 0.809213 262 LC unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Arterial embolism and thrombosis of lower extremity artery 0.000847 7.3384 2.1992 FANCA rs143671872 16:89746667:G:A 16 89746667 G A 16:89813075 0.972235 231 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Synovial cyst of popliteal space [Baker] 0.000424 4.5452 1.2896 FANCA rs17233497 16:89748744:G:A 16 89748744 G A 16:89815152 0.999944 0.0598686 1384 20611 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;Malignant tumor of prostate;not specified Other malignant neoplasms of skin (=non-melanoma skin cancer) 1.69e-07 0.1881 0.036 Cardiomyopathy, other and unspecified 0.0008009 0.926 0.276 FANCA rs149112292 16:89758699:G:C 16 89758699 G C 16:89825107 0.98786 2223 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia, complementation group A;not specified Certain disorders involving the immune mechanism 0.00044 -0.7113 0.2024 Primary open-angle glaucoma 0.001087 8.366 2.561 FANCA rs17233141 16:89767168:G:C 16 89767168 G C 16:89833576 0.997032 3896 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;Fanconi anemia, complementation group A;not provided;not specified Complications of the puerperium, not elsewhere classified 0.000697 1.2261 0.3616 3.917e-05 1.974 0.48 FANCA rs7195066 16:89769915:C:T 16 89769915 C T 16:89836323 0.999503 88383 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other obstructed labour 0.000731 -0.2181 0.0646 Other obstructed labour 0.0006711 -0.206 0.061 FANCA rs1131660 16:89771678:C:A 16 89771678 C A 16:89838086 0.990292 0.0129291 86 4664 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Chronic iridocyclitis 2.52e-05 1.3168 0.3125 Organic, including symptomatic, mental disorders 2.849e-06 2.532 0.541 FANCA rs17232910 16:89773358:G:C 16 89773358 G C 16:89839766 0.998605 0.0590956 1362 20349 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Other malignant neoplasms of skin (=non-melanoma skin cancer) 1.4e-07 0.1907 0.0362 Beningn neoplasm: Meninges, unspecified (other cancers excluded from controls) 0.0008443 3.27 0.98 FANCA rs139235751 16:89775768:C:G 16 89775768 C G 16:89842176 0.872306 683 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Recurrent dislocation and subluxation of joint 0.00206 1.8904 0.6136 FANCA rs148154682 16:89779902:G:A 16 89779902 G A 16:89846310 0.960902 259 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other infective otitis externa 0.00223 4.0165 1.3135 FANCA rs2239359 16:89783072:C:T 16 89783072 C T 16:89849480 0.986004 90433 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) 0.000327 0.0618 0.0172 Other disorders of kidney and ureter 0.0001183 -0.127 0.033 FANCA rs149551759 16:89791422:G:A 16 89791422 G A 16:89857830 0.996738 0.00111054 0 408 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Infective dermatitis 5.3e-05 3.1117 0.7699 FANCA rs11646374 16:89791527:G:A 16 89791527 G A 16:89857935 0.997773 0.0591718 1362 20377 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Other malignant neoplasms of skin (=non-melanoma skin cancer) 8.67e-08 0.1939 0.0362 Beningn neoplasm: Meninges, unspecified (other cancers excluded from controls) 0.0008377 3.277 0.981 FANCA rs7190823 16:89799635:T:C 16 89799635 T C 16:89866043 0.988053 0.459773 77656 91259 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Actinic keratosis 4.35e-14 0.1956 0.0259 Actinic keratosis 7.81e-10 0.139 0.023 FANCA rs144917960 16:89805388:G:A 16 89805388 G A 16:89871796 0.985446 18290 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia Type 2 diabetes, wide definition 0.000197 -0.1232 0.0331 Intracerebral haemmorrhage 0.001299 1.011 0.314 FANCA rs199552612 16:89811052:T:C 16 89811052 T C 16:89877460 0.941304 0.0016141 0 593 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of breast 4.08e-05 9.7398 2.3739 FANCA rs1800282 16:89816599:A:T 16 89816599 A T 16:89883007 0.980732 0.0843686 2698 28298 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fanconi anemia;not specified Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 1.04e-12 0.2221 0.0312 Actinic keratosis 1.503e-05 0.478 0.11 MC1R rs1805005 16:89919436:G:T 16 89919436 G T 16:89985844 0.937394 19326 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant Melanoma Susceptibility;Skin/hair/eye pigmentation 2, blond hair/fair skin;not specified Allergic asthma (mode) (more controls excluded) 0.000316 -0.1935 0.0537 Metatarsalgia 0.002368 1.008 0.332 MC1R rs1805006 16:89919510:C:A 16 89919510 C A 16:89985918 0.909063 0.00223742 2 820 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Other and unspecified visual disturbances 3.73e-05 3.2486 0.7878 MC1R rs2228479 16:89919532:G:A 16 89919532 G A 16:89985940 0.99985 0.0725418 1960 24691 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant Melanoma Susceptibility;Skin/hair/eye pigmentation 2, blond hair/fair skin;Skin/hair/eye pigmentation 2, red hair/fair skin;not specified Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 5.91e-05 0.1342 0.0334 0.0001863 2.65 0.709 MC1R rs11547464 16:89919683:G:A 16 89919683 G A 16:89986091 0.973865 590 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maternal care for known or suspected malpresentation of fetus 0.000282 1.581 0.4354 MC1R rs1805007 16:89919709:C:T 16 89919709 C T 16:89986117 0.989317 0.0670055 1688 22929 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Cutaneous malignant melanoma 5;Increased analgesia from kappa-opioid receptor agonist, female-specific;Malignant Melanoma Susceptibility;OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF;Skin/hair/eye pigmentation 2, red hair/fair skin;not provided;not specified Malignant neoplasm of skin 3.02e-34 0.4268 0.035 Other malignant neoplasms of skin (=non-melanoma skin cancer) 1.106e-10 0.618 0.096 MC1R rs1110400 16:89919722:T:C 16 89919722 T C 16:89986130 0.996163 0.00290973 4 1065 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility;not provided;not specified Chronic conjunctivitis 2.69e-05 4.4217 1.0533 Urticaria 0.000239 29.041 7.905 MC1R rs1805008 16:89919736:C:T 16 89919736 C T 16:89986144 0.995937 0.0685896 1760 23439 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Increased analgesia from kappa-opioid receptor agonist, female-specific;Malignant Melanoma Susceptibility;OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF;Skin/hair/eye pigmentation 2, red hair/fair skin;not provided;not specified Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 1.32e-21 0.3284 0.0344 Other malignant neoplasms of skin (=non-melanoma skin cancer) 3.459e-06 0.403 0.087 MC1R rs885479 16:89919746:G:A 16 89919746 G A 16:89986154 0.997228 0.203368 15962 58753 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified mononeuropathies of upper limb 6.75e-06 0.4441 0.0987 8.099e-05 -0.083 0.021 MC1R rs1805009 16:89920138:G:C 16 89920138 G C 16:89986546 0.808382 857 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Cutaneous malignant melanoma 5;Malignant Melanoma Susceptibility;Skin/hair/eye pigmentation 2, red hair/fair skin;Tyrosinase-positive oculocutaneous albinism;not provided;not specified In situ neoplasms (other cancers excluded from controls) 0.00142 1.2192 0.3822 Congenital malformations of cardiac septa 0.0009562 94.926 28.738 MC1R rs764002798 16:89920592:C:G 16 89920592 C G 16:89987000 0.94718 468 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of brain and other parts of central nervous system 0.00131 2.9091 0.9053 TUBB3 rs77681059 16:89933636:C:T 16 89933636 C T 16:90000044 0.995589 0.0827381 2522 27875 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 2.79e-16 0.2577 0.0315 Other malignant neoplasms of skin (=non-melanoma skin cancer) 8.743e-06 0.324 0.073 GAS8 rs17178299 16:90037251:G:A 16 90037251 G A 16:90103659 0.994427 0.0755114 2162 25580 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 4.03e-06 0.151 0.0328 Leiomyoma of uterus (other cancers excluded from controls) 0.0002701 0.245 0.067 GAS8 rs141125763 16:90037283:G:C 16 90037283 G C 16:90103691 0.980125 1424 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia, primary, 33 Unspecified jaundice 0.000399 2.0637 0.5828 Other specified and unspecified retinal disorders 0.0005136 143.923 41.434 GAS8 rs117053233 16:90037308:G:A 16 90037308 G A 16:90103716 0.973867 1897 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 33 Generalized epilepsy, mode (most common among epilepsy diagnosis) 0.00043 1.4296 0.4061 Certain zoonotic bacterial diseases 0.0004101 169.137 47.867 VPS53 rs61644407 17:601889:A:C 17 601889 A C 17:505129 0.996494 20958 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Evidence of alcohol involvement determined by blood alcohol level 0.000116 1.1687 0.3033 Campylobacter enteritis 0.0008081 2.154 0.643 VPS53 rs16954056 17:623667:G:T 17 623667 G T 17:526907 0.99898 51369 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Brachial plexus disorders 0.000631 0.2103 0.0615 Heartburn 0.0003048 0.392 0.109 GEMIN4 rs35172207 17:746458:T:A 17 746458 T A 17:649698 0.988073 235 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Duodenal ulcer 0.000337 3.8213 1.0659 GEMIN4 rs138673289 17:747904:C:T 17 747904 C T 17:651144 0.994025 1506 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nausea and vomiting 0.000278 0.7515 0.2067 Malignant neoplasm of vulva 0.0004277 175.258 49.756 MYO1C rs11538161 17:1468099:C:T 17 1468099 C T 17:1371393 0.995339 0.0297996 378 10570 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Pulmonary eosinophilia, not elsewhere classified 1.3e-05 1.7044 0.3908 Retention of urine 0.0003961 1.029 0.291 MYO1C rs61753652 17:1469567:T:G 17 1469567 T G 17:1372861 0.981597 0.0160675 132 5771 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Bacterial pneumonia, not elsewhere classified 3.84e-05 0.3265 0.0793 Conjunctivitis (acute, non atopic) 0.0002672 2.357 0.647 MYO1C rs9905106 17:1470224:T:C 17 1470224 T C 17:1373518 0.994852 0.666211 163530 81228 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified intracranial injuries 6.78e-06 0.4087 0.0908 Other and unspecified intracranial injuries 7.073e-05 0.242 0.061 MYO1C rs8081370 17:1470318:C:T 17 1470318 C T 17:1373612 0.992424 0.844538 262036 48237 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic suppurative otitis media 3.85e-05 -0.3843 0.0934 Chronic suppurative otitis media 4.015e-05 -0.216 0.053 MYO1C rs140604493 17:1470448:G:T 17 1470448 G T 17:1373742 0.97144 0.00147256 2 539 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter AION (anterior ischemic optic neuropathy) 7.04e-05 8.7477 2.2008 MYO1C rs117696188 17:1480574:C:T 17 1480574 C T 17:1383868 0.989985 0.0023844 4 872 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Schizoid personality disorder 3.67e-05 4.0252 0.9753 Meniscus derangement 2.854e-06 6.028 1.288 MYO1C rs200048542 17:1483016:G:A 17 1483016 G A 17:1386310 0.920415 1049 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anophthalmia - microphthalmia Lesion of ulnar nerve 0.000325 1.3745 0.3824 Chronic nephritic syndrome 0.001768 49.228 15.745 MYO1C rs140549082 17:1483638:C:T 17 1483638 C T 17:1386932 0.986806 0.000890067 0 327 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic retinopathy (more controls excluded) 2.79e-05 1.1463 0.2736 PRPF8 rs200389505 17:1677680:C:G 17 1677680 C G 17:1580974 0.833318 64 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Bell's palsy 0.000654 6.9877 2.0501 WDR81 rs57207396 17:1726914:C:T 17 1726914 C T 17:1630208 0.992668 0.267853 26598 71808 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria Cirrhosis, broad definition used in the article https://doi.org/10.1101/594523 2.78e-05 -0.1806 0.0431 Cystic kidney disease 0.0005001 0.351 0.101 WDR81 rs200781463 17:1727213:C:T 17 1727213 C T 17:1630507 0.95537 178 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Eating disorders 0.000566 4.2098 1.2211 WDR81 rs151330612 17:1728491:G:A 17 1728491 G A 17:1631785 0.917709 237 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Ascending colon 0.000934 3.7132 1.1219 WDR81 rs3809870 17:1733640:A:G 17 1733640 A G 17:1636934 0.994466 0.294961 32290 76075 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria Cirrhosis, broad definition used in the article https://doi.org/10.1101/594523 4.33e-06 -0.1921 0.0418 Other disorders of breast 0.001323 0.166 0.052 SERPINF2 rs2070862 17:1745000:C:T 17 1745000 C T 17:1648294 0.998523 0.207386 15956 60235 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Suppurative and unspecified otitis media 4.04e-05 -0.1001 0.0244 Cholelithiasis, broad definition with cholecystitis 9.666e-05 -0.089 0.023 SERPINF2 rs1057335 17:1754359:G:A 17 1754359 G A 17:1657653 0.959294 0.181027 12032 54475 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease, wide definition (more controls excluded) 1.4e-07 0.182 0.0346 Traumatic subdural haemorrhage 9.31e-05 0.347 0.089 SERPINF1 rs143827025 17:1769969:G:C 17 1769969 G C 17:1673263 0.97815 0.00454832 12 1659 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Osteogenesis Imperfecta, Recessive;not provided Other embolism and thrombosis 2.19e-05 1.3373 0.3151 Other symptoms and signs involving cognitive functions and awareness 0.001455 7.103 2.231 SERPINF1 rs1136287 17:1769982:C:T 17 1769982 C T 17:1673276 0.999529 89175 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peripheral artery disease 0.000679 -0.072 0.0212 Other and unspecified types of non-Hodgkin lymphoma 0.0009486 0.178 0.054 SERPINF1 rs1804145 17:1771140:C:G 17 1771140 C G 17:1674434 0.963705 3257 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Osteogenesis Imperfecta, Recessive;not specified Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs 0.00122 0.8699 0.269 Persons with potential health hazards related to communicable diseases 0.0003112 7.204 1.998 RTN4RL1 rs181444163 17:1937383:C:T 17 1937383 C T 17:1840677 0.938447 1712 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of breathing 0.000573 -0.3057 0.0888 Other neurotic disorders 7.847e-05 32.686 8.277 DPH1 rs116911386 17:2036598:C:T 17 2036598 C T 17:1939892 0.966279 871 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arterial embolism and thrombosis 0.000168 2.8074 0.7459 DPH1 rs192822710 17:2036951:C:T 17 2036951 C T 17:1940245 0.978551 594 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sexual dysfunction 0.000311 8.8389 2.4511 DPH1 rs80150196 17:2039805:C:G 17 2039805 C G 17:1943099 0.98377 1465 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders starting during childhood or adolecense 0.000289 2.2405 0.618 Hypothermia 0.0001197 506.913 131.78 SMG6 rs144810784 17:2068889:C:T 17 2068889 C T 17:1972183 0.996795 5702 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of eyelid 0.000544 -0.2901 0.0839 Parapsoriasis 0.000476 15.328 4.387 MNT rs185455119 17:2388029:C:T 17 2388029 C T 17:2291323 0.897001 215 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of inner ear 0.00161 1.1979 0.3797 CLUH rs11078312 17:2696892:G:A 17 2696892 G A 17:2600186 0.996655 63178 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myopia 0.000207 0.184 0.0496 Vasomotor and allergic rhinitis 0.0003432 0.113 0.032 ASPA rs104894553 17:3476371:G:A 17 3476371 G A 17:3379665 0.991567 0.00196522 0 722 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endovascular or surgical operations to intracerebral aneurysms 1.49e-05 3.9626 0.9149 TRPV3 rs75319568 17:3518779:C:T 17 3518779 C T 17:3422073 0.975336 10071 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques Ohter specific/unspecified arthritis 0.000416 0.2767 0.0784 Foreign body in respiratory tract 0.0002164 4.788 1.294 TRPV3 rs114131791 17:3528093:T:A 17 3528093 T A 17:3431387 0.982945 1397 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative enterocolitis 0.000656 2.2262 0.6534 TRPV3 rs56169438 17:3528109:C:G 17 3528109 C G 17:3431403 0.980112 254 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other special examinations and investigations of persons without complaint or reported diagnosis 0.000853 -0.5594 0.1677 TRPV3 rs116535534 17:3530164:G:A 17 3530164 G A 17:3433458 0.895355 286 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Systemic lupus erythematosus, unspecified 0.000175 8.1004 2.1589 TRPV3 rs8066242 17:3543546:C:T 17 3543546 C T 17:3446840 0.971558 265 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyrotoxicosis with diffuse goitr 0.00101 2.678 0.8142 TRPV3 rs322937 17:3543591:T:C 17 3543591 T C 17:3446885 0.988551 90589 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Parotid gland (other cancers excluded from controls) 0.000308 0.1937 0.0537 Melanocytic naevi of eyelid, including canthus (other cancers excluded from controls) 4.962e-05 0.53 0.131 TRPV1 rs9913209 17:3577139:G:C 17 3577139 G C 17:3480433 0.987464 165 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of lower limb, including hip (other cancers excluded from controls) 0.000322 14.4656 4.0218 TRPV1 rs17633288 17:3580491:T:C 17 3580491 T C 17:3483785 0.982325 578 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Antenatal screening 0.000786 0.6144 0.183 SHPK rs35091524 17:3610760:T:C 17 3610760 T C 17:3514054 0.983723 1481 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specific arthropathies 0.000718 2.9125 0.861 Other reactioin to severe stress, and adjustment disorders 7.304e-06 5.959 1.329 CTNS rs199977728 17:3655335:G:A 17 3655335 G A 17:3558629 0.99064 558 start_lost recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cystinosis;Nephropathic cystinosis Specific development disorders of speech and language 0.000171 3.6299 0.9659 Leiomyoma of uterus 0 3.544 0 CTNS rs161400 17:3658102:C:T 17 3658102 C T 17:3561396 0.988554 11074 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to lifestyle 0.00116 -0.4311 0.1327 Abnormal findings in nipple discharge synovial fluid wound secretions 0.00161 -0.654 0.207 CTNS rs140326392 17:3659975:G:A 17 3659975 G A 17:3563269 0.948272 0.0014535 0 534 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter STROKE 7.91e-05 0.7667 0.1943 CTNS rs2873624 17:3660669:C:G 17 3660669 C G 17:3563963 0.992959 0.219664 18038 62664 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormalities of plasma proteins 3.18e-06 0.7971 0.1711 Mixed conductive and sensorineural hearing loss 0.0001058 0.241 0.062 P2RX5 rs773491578 17:3690982:TG:T 17 3690982 TG T 17:3594276 0.985044 72071 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectropion of eyelid 0.000481 0.3134 0.0898 Ectropion of eyelid 0.0001706 0.21 0.056 ATP2A3 rs9895012 17:3941051:G:A 17 3941051 G A 17:3844345 0.974015 0.0585403 1304 20203 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Type 2 diabetes, definitions combined 8.89e-05 0.0983 0.0251 Haemmorrhoids and perianal venous thrombosis 0.0001498 0.636 0.168 MYBBP1A rs142989122 17:4540465:G:A 17 4540465 G A 17:4443760 0.944575 533 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of head 0.000157 4.5826 1.2126 Kela-code for behavioural disturbances in mental retardation 0.0002291 293.335 79.612 MYBBP1A rs72830101 17:4545094:G:T 17 4545094 G T 17:4448389 0.916104 1340 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm 0.00224 -0.2385 0.078 Type 2 diabetes with peripheral circulatory complications 0.0001812 8.181 2.185 MYBBP1A rs72830102 17:4545102:T:C 17 4545102 T C 17:4448397 0.914801 1373 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm 0.00231 -0.2352 0.0772 Type 2 diabetes with peripheral circulatory complications 0.0001881 8.153 2.183 SMTNL2 rs150120447 17:4607482:G:A 17 4607482 G A 17:4510777 0.954482 0.00224286 8 816 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Juvenile arthritis (FINNGEN) 8.99e-06 3.8141 0.859 Bronchitis 0.001826 2.176 0.698 ALOX15 rs138472652 17:4631891:T:C 17 4631891 T C 17:4535186 0.973985 277 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Family history of certain disabilities and chronic diseases leading to disablement 0.000763 6.7325 2.0002 ALOX15 rs34210653 17:4632019:G:A 17 4632019 G A 17:4535314 0.990747 2545 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Asthma, nasal polyps, and aspirin intolerance Meralgia paraesthetica 0.000276 2.065 0.5678 Alcohol use disorder, Swedish definition 0.0006282 3.078 0.9 ALOX15 rs11568142 17:4639499:C:G 17 4639499 C G 17:4542794 0.961153 0.00254499 10 925 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Juvenile arthritis (FINNGEN) 2.88e-05 3.1797 0.7602 Encephalitis 0.00101 54.566 16.597 PLD2 rs147737574 17:4810930:G:A 17 4810930 G A 17:4714225 0.995834 3818 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atypical mycobacterium lung infection 0.000182 3.2505 0.8684 Meniere disease 0.0001343 9.007 2.359 PLD2 rs137971062 17:4817149:A:G 17 4817149 A G 17:4720444 0.955362 0.00515531 6 1888 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic nephritic syndrome 1.24e-05 2.1395 0.4896 Foreign body in respiratory tract 0.00138 62.851 19.648 CHRNE rs139171143 17:4898816:C:G 17 4898816 C G 17:4802111 0.958579 0.000647816 4 234 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, congenital, 4a, slow-channel;not specified Other and unspecified types of non-Hodgkin lymphoma (other cancers excluded from controls) 9.79e-05 8.923 2.2905 Achalasia of cardia 0.0004989 167.579 48.136 CHRNE rs764960076 17:4901570:C:T 17 4901570 C T 17:4804865 0.956567 0.000402844 0 148 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of muscle and tendon at lower leg level 3.66e-05 4.7978 1.1622 CHRNE rs4790235 17:4902757:C:A 17 4902757 C A 17:4806052 0.989895 11862 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Myasthenic Syndrome, Dominant/Recessive;Myasthenic syndrome, congenital, 4a, slow-channel;not specified Hypersensitivity pneumonitis due to organic dust 0.000289 1.063 0.2932 Fracture of rib(s), sternum and thoracic spine 0.0001636 1.206 0.32 GP1BA rs6065 17:4933086:C:T 17 4933086 C T 17:4836381 0.99958 33205 missense_variant both drug response drug response reviewed by expert panel Criteria_multSubmitter aspirin response - Efficacy;not specified Loose body in joint 0.000148 0.5537 0.1459 Special screening examination for other diseases and disorders 0.0003853 0.505 0.142 GP1BA rs139921368 17:4933836:C:T 17 4933836 C T 17:4837131 0.887024 0.000106155 0 39 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for other counselling and medical advice, not elsewhere classified 1.49e-05 3.6906 0.8523 ENO3 rs238238 17:4953081:A:G 17 4953081 A G 17:4856376 0.99605 0.631556 146856 85170 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of ankle and foot 6.9e-05 -0.1784 0.0448 Superficial injury of ankle and foot 0.0002061 -0.116 0.031 ENO3 rs238239 17:4953285:T:C 17 4953285 T C 17:4856580 0.995945 91427 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Foreign body in respiratory tract 0.000262 0.2217 0.0607 Focal epilepsy 0.000507 -0.154 0.044 KIF1C rs146872023 17:5003999:A:C 17 5003999 A C 17:4907294 0.9959 266 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injury of nerves at lower leg level 0.00237 14.4175 4.7432 KIF1C rs142056835 17:5004946:G:A 17 5004946 G A 17:4908241 0.983389 3111 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ataxia, spastic, 2, autosomal recessive;Hereditary spastic paraplegia;not provided;not specified Other peripheral vascular diseases 0.000113 1.1572 0.2998 Open wound of forearm 0.000402 15.412 4.355 KIF1C rs148934699 17:5022180:C:T 17 5022180 C T 17:4925475 0.946946 494 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Transport accidents 0.000397 8.176 2.3083 KIF1C rs138935423 17:5022186:C:T 17 5022186 C T 17:4925481 0.968343 2089 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ataxia, spastic, 2, autosomal recessive;not specified Abnormalities of gait and mobility 0.000867 1.1105 0.3334 Nonhereditary hypogammaglobulinemia 0.0007602 99.69 29.609 KIF1C rs202232792 17:5023573:C:T 17 5023573 C T 17:4926868 0.863393 181 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Benign neoplasm: Adrenal gland (other cancers excluded from controls) 0.00149 5.9887 1.8852 KIF1C rs141225452 17:5023910:G:A 17 5023910 G A 17:4927205 0.99247 1441 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chronic lower respiratory diseases 0.00231 -0.2567 0.0843 SLC52A1 rs346821 17:5033677:G:A 17 5033677 G A 17:4936972 0.994247 0.576565 122912 88911 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ptosis of eyelid 5.13e-05 -0.1862 0.046 Foreign body in respiratory tract 0.0001024 0.178 0.046 SLC52A1 rs346822 17:5034280:T:C 17 5034280 T C 17:4937575 0.994155 10523 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol related diseases, tilastokeskus definition 0.000188 -0.1812 0.0485 Alcohol related diseases, tilastokeskus definition 0.0001097 -0.096 0.025 USP6 rs139732460 17:5162994:C:T 17 5162994 C T 17:5066289 0.97677 1145 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other secondary gonarthrosis 0.000695 2.2797 0.6722 Otherand unspecified haemorrhagic conditions 0.0004826 156.933 44.963 NLRP1 rs146932154 17:5521756:A:G 17 5521756 A G 17:5425076 0.950512 498 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of scalp and neck 0.00106 5.2241 1.5962 NLRP1 rs11651270 17:5521757:T:C 17 5521757 T C 17:5425077 0.999096 0.470415 81852 90973 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sleep disorders (combined) 9.6e-06 -0.0595 0.0134 Perforation of tympanic membrane 0.0002751 -0.131 0.036 NLRP1 rs146505967 17:5541951:C:T 17 5541951 C T 17:5445271 0.999272 3581 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presence of other functional implants 0.00102 0.3149 0.0958 Use of antiglaucoma preparations and miotics 0.000385 5.823 1.64 NLRP1 rs201368394 17:5558355:G:T 17 5558355 G T 17:5461675 0.888028 98 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Leiomyoma of uterus 0.000419 1.4604 0.414 NLRP1 rs112191372 17:5559097:C:A 17 5559097 C A 17:5462417 0.987539 384 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Foreign body in alimentary tract 0.000501 4.3611 1.253 Other contact dermatitis 0.002865 33.393 11.199 NLRP1 rs140628502 17:5559773:C:T 17 5559773 C T 17:5463093 0.994976 1511 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diffuse large B-cell lymphoma (other cancers excluded from controls) 0.000852 3.8339 1.1495 Dyspnoea 0.0006728 3.924 1.154 NLRP1 rs12150220 17:5582047:A:T 17 5582047 A T 17:5485367 0.99849 90897 missense_variant both risk factor risk factor no assertion criteria provided no_Criteria Other disorders of conjunctiva 0.000278 -0.1369 0.0377 0.0001317 0.038 0.01 NLRP1 rs72827640 17:5582802:C:T 17 5582802 C T 17:5486122 0.86845 164 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervical root disorders 7e-04 25.2978 7.4631 AIPL1 rs150427474 17:6425644:C:A 17 6425644 C A 17:6328964 0.860127 371 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other endocrine disorders 0.000485 4.3814 1.2558 AIPL1 rs7222126 17:6426597:C:T 17 6426597 C T 17:6329917 0.98805 0.0131523 78 4754 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Benign neoplasm: Small intestine 6.18e-05 1.1449 0.2858 Polyuria 0.0005294 3.792 1.094 AIPL1 rs16955851 17:6428382:T:A 17 6428382 T A 17:6331702 0.976776 416 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pemphigoid 0.00036 8.3445 2.3391 AIPL1 rs145466901 17:6428400:G:A 17 6428400 G A 17:6331720 0.975332 0.00139362 2 510 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyarhtrosis 7.22e-05 2.0501 0.5166 AIPL1 rs62619924 17:6428497:C:T 17 6428497 C T 17:6331817 0.97132 5369 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leber congenital amaurosis;not provided;not specified Ulcerative colitis ( strict definition, require KELA) 0.000824 0.4617 0.138 Acidosis 0.00291 32.662 10.971 AIPL1 rs12449580 17:6433927:C:G 17 6433927 C G 17:6337247 0.989753 66864 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dysplasia of cervi uteri 0.000168 0.1128 0.03 Unstable angina pectoris 6.337e-05 0.135 0.034 AIPL1 rs144822294 17:6433951:G:A 17 6433951 G A 17:6337271 0.997365 2327 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Crohn disease ( strict definition, all UC cases excluded) 0.000282 1.6975 0.4674 Synovial hypertrophy, not elsewhere classified 0.0002418 292.368 79.648 AIPL1 rs11650007 17:6434084:G:A 17 6434084 G A 17:6337404 0.984903 17456 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Leber congenital amaurosis;Retinitis Pigmentosa, Dominant;Retinitis Pigmentosa, Recessive;not provided Heterophoria 0.000247 0.4332 0.1182 Single spontaneous delivery 0.0004386 0.263 0.075 PITPNM3 rs61755430 17:6483563:C:T 17 6483563 C T 17:6386883 0.95817 0.00314654 4 1152 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Dominant;not specified Dislocation, sprain and strain of joints and ligaments of elbow 1.37e-05 2.7797 0.6391 Benign neoplasm: Transverse colon 0.00194 45.313 14.621 PITPNM3 rs3809835 17:6503563:C:T 17 6503563 C T 17:6406883 0.999448 0.295919 32398 76319 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deforming dorsopathies 3.88e-05 0.11 0.0267 Deforming dorsopathies 5.011e-05 0.124 0.031 PITPNM3 rs28493751 17:6538056:G:A 17 6538056 G A 17:6441376 0.993999 0.0992057 3760 32687 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mixed disorders of conduct and emotions 7.91e-05 0.5492 0.1391 Mental and behabioural disorders of puerperum, not classified elsewhere (more controls excluded) 0.0007467 1.908 0.566 KIAA0753 rs61735441 17:6608421:T:C 17 6608421 T C 17:6511741 0.971268 3539 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Malignant neoplasm of liver and intrahepatic bile ducts 0.000329 1.8415 0.5128 Congenital musculoskeletal deformities of head, face, spine and chest 0.002094 43.803 14.238 KIAA0753 rs201379908 17:6628599:A:G 17 6628599 A G 17:6531919 0.980354 449 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of ankle and foot 0.000121 11.2213 2.9198 SLC13A5 rs139509544 17:6687501:C:T 17 6687501 C T 17:6590820 0.95176 2515 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joint and ligaments of hip 0.000291 2.1201 0.5852 Cauda equina syndrome 0.0008393 94.669 28.348 ALOX12 rs147158964 17:7005306:G:A 17 7005306 G A 17:6908625 0.995502 3012 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of ankle and foot 0.000598 2.9499 0.8594 Other joint disorders 0.0006279 1.18 0.345 ACADVL rs730880036 17:7217739:A:G 17 7217739 A G 17:7121058 0.936403 2358 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Primary familial hypertrophic cardiomyopathy;Very long chain acyl-CoA dehydrogenase deficiency Disorders of continuity of bone 0.000229 1.3018 0.3533 Maternal care for known or suspected abnormality of pelvic organs 0.0005825 19.595 5.697 ACADVL rs2230178 17:7220187:G:A 17 7220187 G A 17:7123506 0.991995 7435 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Very long chain acyl-CoA dehydrogenase deficiency;not specified Other arthrosis 0.00102 -0.2053 0.0625 Abnormal findings in nipple discharge synovial fluid wound secretions 0.000311 18.719 5.191 ACADVL rs113994167 17:7222272:T:C 17 7222272 T C 17:7125591 0.995828 330 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services for examination and investigation 0.000441 -0.4105 0.1168 ACADVL rs151254520 17:7225023:C:T 17 7225023 C T 17:7128342 0.977089 297 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Substance abuse (more controls excluded) 0.000135 1.2631 0.331 Benign neoplasm of thyroid gland 0.000711 113.38 33.492 SLC2A4 rs121434581 17:7285729:G:A 17 7285729 G A 17:7189048 0.946223 0.00038379 0 141 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Other inflammation of vagina/vulva 6.38e-05 12.9318 3.2342 RP11-542C16.2 rs144766007 17:7317527:T:C 17 7317527 T C 17:7220846 0.94187 212 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nerve, nerve root and plexus disorders 0.00243 -0.8017 0.2644 NEURL4 rs143317552 17:7322957:G:C 17 7322957 G C 17:7226276 0.991722 3709 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of puberty 0.000308 2.4035 0.6661 1.978e-05 1.198 0.281 CHRNB1 rs17856697 17:7445306:A:G 17 7445306 A G 17:7348625 0.993456 74254 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inguinal hernia 0.000848 0.0521 0.0156 Inguinal hernia 1.608e-05 0.078 0.018 ZBTB4 rs148845628 17:7462265:C:T 17 7462265 C T 17:7365584 0.993203 0.0247477 246 8846 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Blepharochalasis 6.78e-05 -0.3454 0.0867 Ascites 0.0001974 4.888 1.313 MPDU1 rs10852891 17:7587492:G:A 17 7587492 G A 17:7490810 0.998755 0.0977767 3624 32298 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation;not specified Disorders of lipoprotein metabolism and other lipidaemias 4.97e-05 -0.1022 0.0252 Retinoschisis and retinal cysts 0.0001694 1.633 0.434 FXR2 rs190521854 17:7591901:T:C 17 7591901 T C 17:7495219 0.982661 761 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of nerves and spinal cord at neck level 0.000387 5.8419 1.6463 TP53 rs144340710 17:7674259:T:C 17 7674259 T C 17:7577577 0.98673 342 missense_variant dominant Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Anankastic personality disorder 0.000132 7.6623 2.0043 Anankastic personality disorder 0.0007548 107.236 31.832 TP53 rs587782423 17:7676152:C:T 17 7676152 C T 17:7579470 0.941507 170 missense_variant dominant Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Other otitis externa (chronic) 0.000109 7.7841 2.0113 TP53 rs1042522 17:7676154:G:C 17 7676154 G C 17:7579472 0.994407 0.734738 198266 71668 missense_variant dominant drug response drug response reviewed by expert panel Criteria_multSubmitter Arthropathies in other diseases classified elsewhere 7.8e-05 -0.3339 0.0845 Arthropathies in other diseases classified elsewhere 0.0002442 -0.194 0.053 WRAP53 rs2287499 17:7688850:C:G 17 7688850 C G 17:7592168 0.99374 23704 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyskeratosis Congenita, Recessive;Li-Fraumeni syndrome;not specified Keratitis and keratoconjunctivitis in other diseases classified elsewhere 0.00264 0.4449 0.148 Universal eryhrodermia, KELA reimbursement 1.187e-05 4.566 1.042 WRAP53 rs281865548 17:7702770:C:T 17 7702770 C T 17:7606088 0.821612 110 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Problems related to lifestyle 0.00169 5.7122 1.8189 WRAP53 rs7640 17:7703404:C:G 17 7703404 C G 17:7606722 0.983557 60913 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of shoulder and upper arm 0.000111 -0.5245 0.1357 Primary open-angle glaucoma 0.0009341 -0.148 0.045 DNAH2 rs34511268 17:7740849:T:C 17 7740849 T C 17:7644167 0.987478 0.0048178 8 1762 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tinnitus 1.47e-06 1.071 0.2224 Other disorders of ear 1.032e-05 5.367 1.217 DNAH2 rs142532084 17:7759119:C:T 17 7759119 C T 17:7662437 0.936792 0.00393589 10 1436 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pterygium 7.45e-06 3.9223 0.8755 Impetigo 0.001258 69.047 21.408 DNAH2 rs118057786 17:7759801:C:T 17 7759801 C T 17:7663119 0.969679 4481 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Attention to artificial openings 0.00027 1.825 0.5011 Cystitis 1.934e-05 2.259 0.529 DNAH2 rs7213894 17:7819047:C:T 17 7819047 C T 17:7722365 0.988719 88409 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Genitourinary diseases 0.000201 -0.0276 0.0074 Genitourinary diseases 3.026e-05 -0.022 0.005 DNAH2 rs79350244 17:7830796:A:C 17 7830796 A C 17:7734114 0.998606 16575 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Ankylosing spondylitis 0.00419 0.2963 0.1035 Asthma and allergy (more controls excluded) 0.002326 0.765 0.251 DNAH2 rs117465420 17:7831158:A:T 17 7831158 A T 17:7734476 0.998291 16576 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hypothyroidism,other/unspecified 0.00389 -0.081 0.0281 Asthma and allergy (more controls excluded) 0.002328 0.765 0.251 DNAH2 rs116930996 17:7832924:C:G 17 7832924 C G 17:7736242 0.973045 7517 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Acne vulgaris 0.000246 -0.6825 0.1861 Other vitreous opacities 0.002044 7.556 2.45 KDM6B rs148641957 17:7846654:G:T 17 7846654 G T 17:7749972 0.993176 5443 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inborn genetic diseases malignant neoplasm of male genital organs 0.00027 0.3358 0.0922 Other menopausal disorders 6.168e-05 10.371 2.589 KDM6B rs201403136 17:7848213:C:T 17 7848213 C T 17:7751531 0.914427 416 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erosion and ectropion of cervix uteri 0.00164 3.8529 1.2238 KDM6B rs199964822 17:7848258:C:T 17 7848258 C T 17:7751576 0.923749 0.00107244 12 382 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Inborn genetic diseases Fibromyalgia 5.86e-06 6.9201 1.5272 Other and unspecified iron deficiency 9e-04 11.615 3.499 NAA38 rs144163075 17:7857256:C:T 17 7857256 C T 17:7760574 0.961742 808 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other viral diseases 0.000528 1.0752 0.3102 Malignant neoplasm of liver and intrahepatic bile ducts (other cancers excluded from controls) 0.0006138 113.104 33.019 GUCY2D rs9905402 17:8003108:T:C 17 8003108 T C 17:7906426 0.989815 6918 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Impacted cerumen 0.000116 0.8586 0.2228 Counselling related to sexual attitude, behaviour and orientation 0.0005513 14.022 4.059 GUCY2D rs557108466 17:8003121:C:T 17 8003121 C T 17:7906439 0.856668 259 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter malignant neoplasm of female genital organs 0.00108 1.8224 0.5574 GUCY2D rs61749665 17:8003201:G:T 17 8003201 G T 17:7906519 0.996565 88406 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Kela-code for behavioural disturbances in mental retardation 0.000531 -0.4701 0.1357 Hypopituitarism 0.0001262 0.203 0.053 GUCY2D rs1445892049 17:8003384:G:A 17 8003384 G A 17:7906702 0.969874 737 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Prepatellar bursitis 0.000321 3.0526 0.8484 GUCY2D rs138836357 17:8006429:C:T 17 8006429 C T 17:7909747 0.958399 385 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Superficial injury of wrist and hand 0.000643 1.9484 0.5709 GUCY2D rs200211315 17:8007461:C:T 17 8007461 C T 17:7910779 0.992209 0.0020496 4 749 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Other diseases of urinary system 4.02e-05 0.5418 0.1319 Paralytic ileus 0.0008175 89.87 26.852 GUCY2D rs34598902 17:8012594:C:T 17 8012594 C T 17:7915912 0.994251 12759 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other arthrosis 0.000544 -0.1652 0.0478 0.0001083 1.535 0.396 GUCY2D rs8069344 17:8013961:T:A 17 8013961 T A 17:7917279 0.994776 38998 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cramp and spasm 0.00026 0.394 0.1079 Single delivery by caesarean section 0.0003331 0.246 0.069 GUCY2D rs181567056 17:8015475:G:T 17 8015475 G T 17:7918793 0.994755 5085 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of lung 0.000246 2.4878 0.6786 Infective dermatitis 0.0008446 5.077 1.521 GUCY2D rs1181152535 17:8015500:CG:C 17 8015500 CG C 17:7918818 0.959072 1533 pLoF both not provided not_provided no assertion provided none Pure hyperglyceridaemia 0.000382 3.7937 1.068 Hereditary retinal dystrophy 4.389e-07 261.294 51.728 ALOX15B rs139800287 17:8042407:A:G 17 8042407 A G 17:7945725 0.986807 0.00354666 8 1295 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Short bones of lower limb (other cancers excluded from controls) 3.52e-05 7.5962 1.8362 Benign neoplasm: Long bones of lower limb 0.001364 64.219 20.054 ALOX15B rs141534086 17:8044921:C:T 17 8044921 C T 17:7948239 0.920927 0.00277908 6 1015 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Preterm labour and delivery 3.39e-05 1.1469 0.2766 Monoarthritis, not elsewhere classified 0.0003968 123.897 34.977 ALOX15B rs140623478 17:8047001:G:A 17 8047001 G A 17:7950319 0.983393 145 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other anaemias 0.000766 2.2209 0.66 ALOX12B rs199766569 17:8075687:T:C 17 8075687 T C 17:7979005 0.920698 219 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of skin 0.000373 4.8027 1.3497 ALOX12B rs145344421 17:8076313:C:A 17 8076313 C A 17:7979631 0.993393 2248 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital ichthyosiform erythroderma Personal history of risk-factors, not elsewhere classified 0.000166 3.7968 1.0082 Prolapse and hernia of ovary and fallopian tube 0.0003129 12.245 3.397 ALOX12B rs72842957 17:8081161:G:A 17 8081161 G A 17:7984479 0.99389 5310 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Disorders of eyelid, lacrimal system and orbit 0.000187 0.2134 0.0571 Toxic effect of other and unspecified substances 0.0001653 24.213 6.428 ALOXE3 rs147149459 17:8103390:G:A 17 8103390 G A 17:8006708 0.8318 132 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidural haemorrhage 0.000394 32.0703 9.0487 ALOXE3 rs121434235 17:8112168:A:T 17 8112168 A T 17:8015486 0.926942 0.00131196 4 478 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autosomal recessive congenital ichthyosis 3;Congenital ichthyosiform erythroderma Ulcerative rectosigmoiditis 8.73e-05 3.3554 0.8552 Unknown and unspecified causes of morbidity 0.0002927 139.646 38.558 ALOXE3 rs121434233 17:8112177:G:A 17 8112177 G A 17:8015495 0.967303 236 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy 0.000153 2.8652 0.7569 ALOXE3 rs112227180 17:8118089:G:C 17 8118089 G C 17:8021407 0.953973 9622 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital ichthyosiform erythroderma Chronic diseases of tonsils and adenoids 7e-04 -0.1265 0.0373 Dermatitis due to ingested food 0.0006845 5.226 1.539 ALOXE3 rs3027229 17:8118290:G:C 17 8118290 G C 17:8021608 0.982963 0.0875695 2924 29248 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital ichthyosiform erythroderma Dementia due to Parkinsons disease (more controls excluded) 3.81e-05 -0.7312 0.1775 Sleep apnoea 0.0001505 0.219 0.058 ALOXE3 rs79377087 17:8118294:C:A 17 8118294 C A 17:8021612 0.956038 0.00556904 20 2026 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital ichthyosiform erythroderma;not specified Glomerulonephritis 4.59e-05 0.7251 0.1779 Secondary right heart disease 0.002555 35.568 11.79 HES7 rs201278621 17:8121869:C:A 17 8121869 C A 17:8025187 0.976517 1910 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emphysema 0.000715 1.6465 0.4866 Poisoning by narcotics and psychodysleptics [hallucinogens] 0.001012 81.71 24.857 PER1 rs12937495 17:8142829:C:T 17 8142829 C T 17:8046147 0.971627 0.0200197 164 7191 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Radiculopathy 6.24e-05 0.4416 0.1103 Calcaneal spur 0.0002865 18.827 5.19 PER1 rs74795714 17:8149597:C:T 17 8149597 C T 17:8052915 0.965742 455 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Divergent concomitant strabismus 0.000326 2.9238 0.8136 TMEM107 rs74895707 17:8174263:T:C 17 8174263 T C 17:8077581 0.992027 0.00764587 26 2783 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Status epilepticus 3.11e-05 2.1373 0.5131 Dissocial personality disorder 0.001747 53.01 16.936 CTC1 rs201455840 17:8228592:A:T 17 8228592 A T 17:8131910 0.924459 305 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Placenta praevia 0.000188 6.3084 1.689 CTC1 rs3826543 17:8229445:T:C 17 8229445 T C 17:8132763 0.999658 45006 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory diseases of prostate (prostatitis) 0.00054 0.1898 0.0549 0.0001428 0.027 0.007 CTC1 rs779650334 17:8230395:AG:A 17 8230395 AG A 17:8133713 0.965565 1508 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hepatomegaly and splenomegaly, not elsewhere classified 0.000902 4.7201 1.422 CTC1 rs3027238 17:8231743:T:C 17 8231743 T C 17:8135061 0.998417 0.988492 359010 4150 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Femoral hernia, unilateral 3.32e-05 -1.9157 0.4616 Femoral hernia, unilateral 6.44e-05 -0.923 0.231 CTC1 rs201891953 17:8232096:C:T 17 8232096 C T 17:8135414 0.988443 682 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other congenital malformations of the digestive system 0.00011 4.0933 1.0586 CTC1 rs62620189 17:8232126:C:G 17 8232126 C G 17:8135444 0.996872 7229 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyskeratosis congenita;not specified Gastro-oesophageal reflux disease 0.00011 0.2099 0.0543 Other inflammation of eyelid 4.42e-05 4.756 1.164 CTC1 rs199473676 17:8232427:A:C 17 8232427 A C 17:8135745 0.998679 619 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Congenital iodine-deficiency syndrome/hypothyroidism 0.00055 5.3715 1.5546 CTC1 rs200440641 17:8234553:G:A 17 8234553 G A 17:8137871 0.96351 348 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Guillain-Barre syndrome 0.000136 10.8912 2.854 CTC1 rs62624978 17:8235251:C:G 17 8235251 C G 17:8138569 0.996829 7227 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dyskeratosis Congenita, Recessive;Dyskeratosis congenita;not specified Gastro-oesophageal reflux disease 0.000108 0.2101 0.0543 Other inflammation of eyelid 4.42e-05 4.756 1.164 CTC1 rs199473673 17:8237487:G:A 17 8237487 G A 17:8140805 0.99476 303 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Hallux rigidus 0.000103 2.7806 0.716 CTC1 rs78870822 17:8238579:C:G 17 8238579 C G 17:8141897 0.994836 11520 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyskeratosis Congenita, Recessive;Dyskeratosis congenita;not provided;not specified Other and unspecified urticaria 0.000331 0.2907 0.081 Secondary right heart disease 0.0002124 4.804 1.297 PFAS rs141777945 17:8258163:G:A 17 8258163 G A 17:8161481 0.994224 4168 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intermittent heterotropia 0.00108 0.9219 0.282 Retinal detachments and breaks 0.001842 2.475 0.795 PFAS rs34939404 17:8262979:G:A 17 8262979 G A 17:8166297 0.994406 5108 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presence of other functional implants 0.000336 0.2911 0.0812 Bacterial, viral and other infectious agents 0.0002406 7.672 2.089 PFAS rs138697840 17:8264266:G:A 17 8264266 G A 17:8167584 0.992808 7293 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disturbances of skin sensation 0.00173 0.2967 0.0947 Systemic atrophies primarly affecting the central nervous system 0.0005561 5.955 1.725 PFAS rs145526163 17:8264533:G:A 17 8264533 G A 17:8167851 0.989708 0.0019625 0 721 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of brain, other and unspecified 3.12e-05 10.4221 2.5026 RANGRF rs150856064 17:8288840:C:T 17 8288840 C T 17:8192158 0.96508 0.000615153 0 226 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Enthesopathies of lower limb, excluding foot 9.52e-06 3.1513 0.7117 RANGRF rs140704891 17:8289059:G:T 17 8289059 G T 17:8192377 0.992905 3774 pLoF unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiac arrhythmia;not specified Myasthenia gravis 0.000131 2.4872 0.6502 Ischemic heart diseases 0.0001037 1.169 0.301 ARHGEF15 rs115065009 17:8312437:C:T 17 8312437 C T 17:8215755 0.975991 369 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other skin changes 0.000269 3.4535 0.9479 ARHGEF15 rs200767050 17:8312972:C:T 17 8312972 C T 17:8216290 0.958059 222 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Recurrent dislocation of patella 0.001 6.1979 1.8839 ARHGEF15 rs142119277 17:8315267:G:T 17 8315267 G T 17:8218585 0.990534 0.00541117 16 1972 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early infantile epileptic encephalopathy Statin medication 6.22e-06 -0.3011 0.0666 Chrondropathies 0.001067 9.832 3.005 ARHGEF15 rs142667369 17:8316081:G:C 17 8316081 G C 17:8219399 0.879645 130 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of forearm 0.00132 5.436 1.6925 ARHGEF15 rs79993581 17:8319552:C:T 17 8319552 C T 17:8222870 0.979505 4284 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early infantile epileptic encephalopathy Inguinal or femoral hernia, bilateral 0.000356 -0.7756 0.2172 Other disorders of the genitourinary system 0.0003069 6.542 1.812 PIK3R5 rs62620227 17:8880725:G:A 17 8880725 G A 17:8784042 0.98186 1177 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 0.00209 1.3144 0.4271 PIK3R5 rs141086831 17:8888711:A:G 17 8888711 A G 17:8792028 0.838858 136 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Childhood asthma (age<16) 0.000725 4.1622 1.2315 CFAP52 rs77839011 17:9594243:C:T 17 9594243 C T 17:9497560 0.984684 0.00126841 0 466 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kyphosis 1.75e-05 18.6723 4.3482 MYH8 rs111567318 17:10392597:T:G 17 10392597 T G 17:10295914 0.965819 1122 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Schizoid personality disorder 0.000443 3.074 0.8751 Dissection of aorta 0.0002378 275.853 75.061 MYH8 rs141215006 17:10392944:G:C 17 10392944 G C 17:10296261 0.958533 2106 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inborn genetic diseases;not specified Other strabismus 0.00102 0.6093 0.1855 Anxious personality disorder 0.000778 102.676 30.554 MYH8 rs8069834 17:10394341:A:G 17 10394341 A G 17:10297658 0.99458 90574 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Follicular cysts of skin and subcutaneous tissue 0.000699 0.1056 0.0311 Pre-eclampsia or eclampsia 0.0003166 -0.074 0.021 MYH8 rs139344968 17:10395282:C:T 17 10395282 C T 17:10298599 0.983799 711 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to housing and economic circumstances 0.00117 6.0139 1.852 MYH8 rs145711576 17:10395311:C:G 17 10395311 C G 17:10298628 0.93615 272 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mesothelioma 0.000106 20.7201 5.3436 MYH8 rs35962914 17:10400439:A:G 17 10400439 A G 17:10303756 0.99088 0.0050165 14 1829 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Peripheral nerves and autonomic nervous system 7.05e-05 4.4365 1.1162 Secondary uncertain malignant neoplasm (other cancers excluded from controls) 9.866e-05 24.082 6.185 MYH8 rs34693726 17:10409155:G:A 17 10409155 G A 17:10312472 0.994021 17703 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hecht syndrome;not specified Ulcerative rectosigmoiditis 0.000644 0.3698 0.1084 Calcific tendinitis of shoulder 0.00105 1.451 0.443 MYH8 rs144321381 17:10412667:G:T 17 10412667 G T 17:10315984 0.971381 913 pLoF dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Problems related to negative life events in childhood 0.000246 4.934 1.3457 Otitis media, unspecified 0.001451 55.77 17.514 MYH8 rs142606252 17:10414246:C:G 17 10414246 C G 17:10317563 0.965123 1125 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erectile dysfunction 0.000864 1.6367 0.4913 Brachial plexus disorders 0.002178 42.818 13.971 MYH4 rs34610503 17:10451410:T:G 17 10451410 T G 17:10354727 0.972887 361 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of refraction and accommodation 0.000326 1.8724 0.521 MYH2 rs34161789 17:10521326:C:T 17 10521326 C T 17:10424643 0.991063 1221 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inclusion body myopathy 3;not provided;not specified Retinal breaks without detachment 0.000247 1.2212 0.3332 Other and unspecified disorders of skin and subcutaneous tissue 0.001244 64.698 20.039 MYH2 rs11658164 17:10529472:A:C 17 10529472 A C 17:10432789 0.98771 1307 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inclusion body myopathy 3;not provided Neuromuscular dysfuntion of bladder 0.000132 1.6952 0.4435 Endocrine, nutritional and metabolic diseases 0 1.735 0 MYH2 rs148961199 17:10529652:T:C 17 10529652 T C 17:10432969 0.901761 335 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Guttate psoriasis 0.000651 10.5884 3.1055 Other dorsopathies, not elsewhere classified 4.059e-05 2.214 0.539 MYH2 rs143872329 17:10529864:C:T 17 10529864 C T 17:10433181 0.960293 2105 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inclusion body myopathy 3;not provided;not specified Other strabismus 0.000939 0.6147 0.1858 Anxious personality disorder 0.0007767 103.267 30.725 MYH3 rs34393601 17:10631643:C:T 17 10631643 C T 17:10534960 0.997727 5735 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified Hypoparathyroidism 0.000297 1.2013 0.332 Burn and corrosion of head and neck 0.0002584 20.401 5.584 MYH3 rs34165480 17:10632522:G:A 17 10632522 G A 17:10535839 0.988705 717 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Achalasia of cardia 0.000544 5.405 1.5629 MYH3 rs140218185 17:10635457:G:A 17 10635457 G A 17:10538774 0.873569 195 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 0.000205 1.4661 0.3948 MYH3 rs140074626 17:10637934:G:A 17 10637934 G A 17:10541251 0.990594 0.00102616 0 377 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of synovium and tendon in diseases classified elsewhere 2.39e-05 11.0627 2.6183 MYH3 rs61735358 17:10638180:C:T 17 10638180 C T 17:10541497 0.993667 3193 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not provided;not specified Persons encountering health services for specific procedures, not carried out 0.000243 1.4901 0.4061 Impetigo 0.003003 32.394 10.917 MYH3 rs2285477 17:10638198:C:T 17 10638198 C T 17:10541515 0.997845 67504 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monoplegia 0.000735 -0.4786 0.1418 Vertigo of central origin 0.001286 0.265 0.082 MYH3 rs145080512 17:10638293:G:A 17 10638293 G A 17:10541610 0.886911 156 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Simple and mucoplurulent chronic bronchitis 0.00212 7.4823 2.4345 MYH3 rs12941197 17:10638363:G:A 17 10638363 G A 17:10541680 0.931598 885 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other acute viral hepatitis 0.000161 7.1169 1.8858 Hernia of abodminal wall, postoperative 0.003156 31.336 10.615 MYH3 rs34088014 17:10639392:G:A 17 10639392 G A 17:10542709 0.998089 5900 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arthrogryposis multiplex congenita;Freeman-Sheldon syndrome;not specified Hypoparathyroidism 0.000209 1.2149 0.3277 Helminthiases 0.0003097 18.786 5.208 SCO1 rs61753148 17:10697492:G:C 17 10697492 G C 17:10600809 0.915677 300 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other systemic involvement of connective tissue 0.00165 1.6043 0.5098 DNAH9 rs544620994 17:11598539:A:ACGCGGATGGGGAACCCGGCGCCGAC 17 11598539 A ACGCGGATGGGGAACCCGGCGCCGAC 17:11501856 0.970342 18764 pLoF recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of muscles 0.000436 -0.3334 0.0948 Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs (other cancers excluded from controls) 0.002232 1.155 0.378 DNAH9 rs141077864 17:11640279:C:T 17 11640279 C T 17:11543596 0.993329 771 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Other/unspecified site 0.00261 4.6612 1.5483 DNAH9 rs61740059 17:11640293:A:G 17 11640293 A G 17:11543610 0.993081 7554 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Erythema multiforme 0.000208 1.2523 0.3376 Dermatitis due to substances taken internally 0.0001612 3.567 0.945 DNAH9 rs146479561 17:11647104:G:A 17 11647104 G A 17:11550421 0.994794 0.0113912 56 4129 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Undefined dementia 9.33e-05 0.776 0.1986 Nonalcoholic fatty liver disease 0.00149 8.808 2.773 DNAH9 rs3744581 17:11747740:A:G 17 11747740 A G 17:11651057 0.994554 52697 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary parkinsonism 0.000124 0.4074 0.1062 Secondary parkinsonism (more controls excluded) 0.0002804 0.803 0.221 DNAH9 rs61744697 17:11769290:G:T 17 11769290 G T 17:11672607 0.991608 46689 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of breast 0.000254 0.181 0.0495 Diabetic hypoglycemia 0.0009594 -0.209 0.063 DNAH9 rs17612861 17:11932014:G:A 17 11932014 G A 17:11835331 0.98875 79673 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary parkinsonism 0.000232 -0.3175 0.0862 Anomalies of pupillary function 0.0008924 -0.437 0.132 DNAH9 rs1990236 17:11962145:G:A 17 11962145 G A 17:11865462 0.999103 60118 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified urticaria 0.000127 0.1353 0.0353 Astigmatism 0.0001101 0.462 0.119 ELAC2 rs770669443 17:12992883:C:CATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG 17 12992883 C CATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG 17:12896200 0.929999 0.00431152 8 1576 inframe_indel recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Varicose veins 4.35e-06 -0.5286 0.1151 0.0006192 9.423 2.753 ELAC2 rs78105154 17:12994991:G:A 17 12994991 G A 17:12898308 0.993403 141 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acidosis 0.000885 23.1136 6.952 ELAC2 rs119484087 17:12995006:T:A 17 12995006 T A 17:12898323 0.989135 0.00994044 24 3628 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Combined oxidative phosphorylation deficiency 17;Prostate cancer, hereditary, 2 Other and unspecified glaucoma 4.19e-05 1.4583 0.356 Benign neoplasm of eye and adnexa 0.0002843 18.959 5.224 ELAC2 rs5030739 17:12996585:C:T 17 12996585 C T 17:12899902 0.998773 15818 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined oxidative phosphorylation deficiency 17;Prostate cancer, hereditary, 2;not provided;not specified Other benign neoplasm of uterus: Other parts/unspecified (other cancers excluded from controls) 0.000518 0.4865 0.1402 Depression medications 0.000294 -0.283 0.078 ELAC2 rs4792311 17:13011692:G:A 17 13011692 G A 17:12915009 0.999926 0.31335 36202 78919 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of glucose regulation and pancreatic internal secretion 7.35e-05 -0.1928 0.0486 Other disorders of glucose regulation and pancreatic internal secretion 0.001321 -0.172 0.054 COX10 rs2230351 17:14076741:A:T 17 14076741 A T 17:13980058 0.99762 45910 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Generalized epilepsy 0.000548 -0.1883 0.0545 Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 0.0003267 0.656 0.183 COX10 rs2072279 17:14077033:G:A 17 14077033 G A 17:13980350 0.998647 0.442178 71776 90675 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other melanin hyperpigmentation 7.64e-05 0.4026 0.1018 Acute bronchitis 1.126e-05 -0.076 0.017 COX10 rs111541535 17:14206977:G:T 17 14206977 G T 17:14110294 0.971983 965 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Carcinoid syndrome 0.000351 5.9795 1.673 Vascular disorders of the intestines 0.001515 56.719 17.882 COX10 rs113058506 17:14207172:C:T 17 14207172 C T 17:14110489 0.94707 564 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dementia due to Parkinsons disease (more controls excluded) 0.000179 6.7598 1.8041 HS3ST3B1 rs200257944 17:14301571:T:A 17 14301571 T A 17:14204888 0.94007 2353 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of nerves at lower leg level 0.000197 4.3659 1.1726 Alcohol abuse counselling and surveillance 0.0007258 105.655 31.262 PMP22 rs112829799 17:15230797:TGTTTG:T 17 15230797 TGTTTG T 17:15134114 0.965622 421 pLoF both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Charcot-Marie-Tooth disease, type I;Hereditary liability to pressure palsies Hyperfunction of pituitary gland 0.000209 4.4176 1.1915 Chronic iridocyclitis 0.001869 51.746 16.637 PMP22 rs13422 17:15230858:T:G 17 15230858 T G 17:15134175 0.998361 89819 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sicca syndrome [Sjogren] 0.0016 0.1467 0.0465 Sicca syndrome [Sjogren] 0.0004325 0.149 0.042 PMP22 rs104894619 17:15231047:G:A 17 15231047 G A 17:15134364 0.995822 2835 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Charcot-Marie-Tooth disease, type 1a, autosomal recessive;Charcot-Marie-Tooth disease, type I;Charcot-Marie-Tooth disease, type IA;Hereditary liability to pressure palsies;not provided;not specified Follicular lymphoma 0.000379 1.5971 0.4493 Other demyelinating diseases of the central nervous system 7.263e-05 35.603 8.974 PMP22 rs3744333 17:15239438:G:A 17 15239438 G A 17:15142755 0.998013 14396 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified and unspecified retinal disorders 0.000903 0.7292 0.2197 Femoral hernia 0.0005058 2.134 0.614 CDRT1 rs79385100 17:15593413:T:G 17 15593413 T G 17:15496727 0.990018 55012 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes with renal complications 0.00115 0.2191 0.0674 Other, unspecified and serous retinal detachments 0.0002243 0.643 0.174 CDRT1 rs758041951 17:15594897:GAAAAGATA:G 17 15594897 GAAAAGATA G 17:15498211 0.984581 32841 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal scars and opacities 0.000426 0.6196 0.1758 Symptoms and signs involving the nervous and musculoskeletal systems 0.0004823 0.23 0.066 TRIM16 rs1060903 17:15628628:C:A 17 15628628 C A 17:15531942 0.993986 63883 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.00015 0.0599 0.0158 1.855e-06 0.218 0.046 TTC19 rs147111211 17:16025160:A:G 17 16025160 A G 17:15928474 0.9887 346 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Burn and corrosion of wrist and hand 0.00166 5.4103 1.7202 NCOR1 rs61753149 17:16047086:C:T 17 16047086 C T 17:15950400 0.980154 2162 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary oedema 0.000255 3.5402 0.9679 Subjective visual disturbances 0.001592 8.183 2.592 NCOR1 rs61753150 17:16070460:T:G 17 16070460 T G 17:15973774 0.989376 7397 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lichen sclerosus et atrophicus 0.000173 0.7224 0.1923 Superficial injury of neck 0.0005357 14.466 4.178 PIGL rs189572029 17:16234068:C:A 17 16234068 C A 17:16137382 0.987233 1703 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Antepartum haemorrhage, not elsewhere classified 0.000614 1.3066 0.3815 Other specified/unspecified disorders of bone/cartilage 0.0009751 86.104 26.111 PIGL rs115958467 17:16299976:C:A 17 16299976 C A 17:16203290 0.947103 0.00170664 2 625 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other external causes of accidental injury 1.43e-05 2.8677 0.6608 PIGL rs145303331 17:16316686:T:C 17 16316686 T C 17:16220000 0.982655 281 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Injuries to the elbow and forearm 0.000274 1.0243 0.2815 LRRC75A rs185998385 17:16443931:C:T 17 16443931 C T 17:16347245 0.984547 0.00869653 26 3169 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Attention to artificial openings 1.34e-05 2.6726 0.6139 Arterial embolism and thrombosis of lower extremity artery 5.954e-05 37.135 9.25 TNFRSF13B rs34562254 17:16939677:G:A 17 16939677 G A 17:16842991 0.998619 33266 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Common Variable Immune Deficiency, Dominant;not specified Endometriosis of pelvic peritoneum 0.000323 -0.1859 0.0517 Soft tissue disorders related to use, overuse and pressure 0.0003235 0.345 0.096 TNFRSF13B rs56063729 17:16939770:A:G 17 16939770 A G 17:16843084 0.997 9747 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Common Variable Immune Deficiency, Dominant;Common variable immunodeficiency 2;not provided Other disorders of bladder 0.000816 0.4388 0.1311 Presbycusis 0.00117 1.743 0.537 TNFRSF13B rs72553883 17:16940415:G:T 17 16940415 G T 17:16843729 0.951214 0.0238576 216 8549 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Common Variable Immune Deficiency, Dominant;Common variable immunodeficiency 2;Immunoglobulin A deficiency 2;not provided Chronic diseases of tonsils and adenoids 2.87e-17 0.3401 0.0402 Other disorders of Eustachian tube 5.942e-05 12.352 3.076 TNFRSF13B rs34557412 17:16948873:A:G 17 16948873 A G 17:16852187 0.959933 0.00128202 4 467 missense_variant both Conflicting interpretations of pathogenicity, risk factor risk factor criteria provided, conflicting interpretations Criteria_multSubmitter Absent epiphyses;Chronic lung disease;Cleft palate;Coat hanger sign of ribs;Common Variable Immune Deficiency, Dominant;Common variable immunodeficiency 2;Hemivertebrae;Immunoglobulin A deficiency 2;Interstitial pulmonary abnormality;Micrognathia;Patent ductus arteriosus;Preaxial foot polydactyly;Pseudoarthrosis;Respiratory failure;Short femur;Skeletal dysplasia;Talipes equinovarus;Vertebral hypoplasia;Vertebral segmentation defect;not provided;not specified Deficiency of other B group vitamins 3.59e-05 9.6636 2.3387 Disorders of lipoprotein metabolism and other lipidaemias 8.535e-05 4.399 1.12 TNFRSF13B rs55916807 17:16948968:C:T 17 16948968 C T 17:16852282 0.973918 282 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Complications of cardiac and vascular prosthetic devices, implants and grafts 0.000126 11.0542 2.8834 FLCN rs200660337 17:17215060:G:A 17 17215060 G A 17:17118374 0.996084 685 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Peptic ulcer 0.000459 7.8383 2.2373 FLCN rs41419545 17:17215284:C:T 17 17215284 C T 17:17118598 0.964604 256 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Vitamin deficiency 0.000193 6.7881 1.8207 FLCN rs143483053 17:17219122:C:T 17 17219122 C T 17:17122436 0.978116 0.00192984 2 707 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of male genital organs 9.56e-06 0.6321 0.1428 FLCN rs3744124 17:17221501:C:T 17 17221501 C T 17:17124815 0.999839 0.0268789 214 9661 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Isolated proteinuria with specified morphological lesion 1.26e-05 1.2339 0.2825 Superficial injury of wrist and hand 0.00186 1.924 0.618 RAI1 rs3803763 17:17793217:G:C 17 17793217 G C 17:17696531 0.998535 0.33377 40828 81795 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 5.53e-05 0.0413 0.0102 1.233e-05 0.038 0.009 RAI1 rs11649804 17:17793441:C:A 17 17793441 C A 17:17696755 0.999762 80094 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes-related co-morbidities/complications (more controls excluded) 0.000331 0.0372 0.0104 1.107e-05 0.039 0.009 RAI1 rs138332224 17:17793558:C:T 17 17793558 C T 17:17696872 0.993427 5834 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;not provided;not specified Other specified/unspecified hearing loss 0.00125 -0.6695 0.2074 Ischemic heart diseases 0.000282 0.903 0.249 RAI1 rs150563155 17:17793673:C:T 17 17793673 C T 17:17696987 0.99985 396 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fistulae involving female genital tract 0.00159 8.2425 2.6096 RAI1 rs113208290 17:17794090:C:T 17 17794090 C T 17:17697404 0.964517 383 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertension complicating pregnancy, childbirth, and the puerperium 0.00177 0.9825 0.3143 RAI1 rs147091667 17:17794486:A:G 17 17794486 A G 17:17697800 0.999011 1518 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter History of neurodevelopmental disorder;not provided Hypertrichosis 0.000522 3.5428 1.0212 Cerebrovascular diseases (FINNGEN) 5.039e-07 5.535 1.101 RAI1 rs749561945 17:17795650:AGGAGGAGGT:A 17 17795650 AGGAGGAGGT A 17:17698964 0.972157 439 inframe_indel dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anxiety disorders 0.00081 0.5956 0.1778 RAI1 rs149716029 17:17796723:AAGG:A 17 17796723 AAGG A 17:17700037 0.976682 1325 inframe_indel dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Asthma, hospital admissions , main diagnosis only 0.00182 -0.3562 0.1142 RAI1 rs34521483 17:17796987:A:G 17 17796987 A G 17:17700301 0.992358 182 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injury of other and unspecified intrathoracic organs 0.000151 7.2738 1.9196 RAI1 rs142981643 17:17797984:C:T 17 17797984 C T 17:17701298 0.978481 164 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bronchitis, not specified as acute or chronic 0.000371 4.585 1.2878 SREBF1 rs141489278 17:17815278:C:T 17 17815278 C T 17:17718592 0.953747 1999 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other or unspecified ileus, impaction or obstruction 0.000618 0.7534 0.2201 Diabetes insipidus 0.0008971 92.803 27.945 SREBF1 rs114001633 17:17819659:G:A 17 17819659 G A 17:17722973 0.929239 666 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Contracture of joint 0.00121 6.0898 1.8812 Other abnormal findings of blood chemistry 0.0005677 137.495 39.893 ATPAF2 rs33997182 17:18018681:C:T 17 18018681 C T 17:17921995 0.998627 24869 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type;not provided;not specified Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 0.00209 0.6661 0.2164 Polyarthropathies 0.0004243 0.257 0.073 ATPAF2 rs62073570 17:18021850:C:T 17 18021850 C T 17:17925164 0.987719 731 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of ear 0.00033 0.4587 0.1277 ATPAF2 rs144484457 17:18026395:A:G 17 18026395 A G 17:17929709 0.9919 0.00292606 10 1065 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type;not provided;not specified Hypertensive Heart Disease 4.88e-05 1.0455 0.2574 Cardiac arrhytmias, COPD co-morbidities 1.263e-06 3.723 0.768 ATPAF2 rs149036879 17:18038979:C:T 17 18038979 C T 17:17942293 0.996421 2612 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type;not specified Other overlap syndromes 0.000854 2.4198 0.7256 Benign neoplasm: Skin, unspecified 0.0002705 19.623 5.388 DRG2 rs143296623 17:18100605:G:A 17 18100605 G A 17:18003919 0.998968 6072 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oligomenorrhoea 0.00016 1.058 0.2803 Diabetes mellitus 0.0001575 0.746 0.197 MYO15A rs145292219 17:18120185:G:A 17 18120185 G A 17:18023499 0.983988 745 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other special examinations and investigations of persons without complaint or reported diagnosis 0.000245 0.345 0.0941 Disorders of lens 3.302e-05 2.029 0.489 MYO15A rs2955365 17:18120583:G:A 17 18120583 G A 17:18023897 0.991518 85358 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other special examinations and investigations of persons without complaint or reported diagnosis 0.00057 -0.0303 0.0088 Gastrointestinal diseases 0.0003146 -0.026 0.007 MYO15A rs117612144 17:18121826:C:A 17 18121826 C A 17:18025140 0.981907 6161 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Haemmorrhoids and perianal venous thrombosis 0.000669 -0.3632 0.1068 0.005775 1.375 0.498 MYO15A rs76468019 17:18122213:A:G 17 18122213 A G 17:18025527 0.989276 2601 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other overlap syndromes 0.000771 2.464 0.7327 Benign neoplasm: Skin, unspecified 0.0003357 19.867 5.54 MYO15A rs200146361 17:18140592:C:T 17 18140592 C T 17:18043906 0.99032 1710 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not provided;not specified Other and unspecified glaucoma 0.000747 1.8106 0.537 Wegener granulomatosis 0.00101 85.355 25.961 MYO15A rs150403702 17:18142183:T:G 17 18142183 T G 17:18045497 0.968634 1418 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Disorders of synovium and tendon 0.000919 0.4391 0.1325 Disorders of oesophagus in diseases classified elsewhere 0.001828 54.265 17.41 MYO15A rs139347804 17:18142824:G:A 17 18142824 G A 17:18046138 0.959534 3673 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Lip (other cancers excluded from controls) 0.000896 1.7091 0.5146 0.0002135 1.711 0.462 MYO15A rs854777 17:18143584:T:C 17 18143584 T C 17:18046898 0.995824 66380 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiac arrhytmias, COPD co-morbidities 0.000153 -0.0521 0.0138 Viral pneumonia (known virus, not influenza) 0.0002108 -0.179 0.048 MYO15A rs2272571 17:18143875:G:A 17 18143875 G A 17:18047189 0.996833 51544 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thyrotoxicosis with diffuse goitr 0.000872 0.1559 0.0468 Peripheral atherosclerosis 0.001618 0.153 0.049 MYO15A rs121908970 17:18148133:C:T 17 18148133 C T 17:18051447 0.996274 6477 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, with smith-magenis syndrome;not specified Type 1 diabetes, wide definition, subgroup 2 0.000448 1.532 0.4365 Early onset COPD 0.0004193 2.75 0.779 MYO15A rs114274755 17:18148792:G:A 17 18148792 G A 17:18052106 0.876352 562 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peritonsillar abscess 0.00127 1.3135 0.4075 MYO15A rs200930743 17:18153792:C:G 17 18153792 C G 17:18057106 0.965667 296 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deficiency of other B group vitamins 0.000117 10.9615 2.8455 MYO15A rs712270 17:18153853:A:T 17 18153853 A T 17:18057167 0.999789 90201 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vitreous body and globe 0.000195 -0.0739 0.0198 Malignant neoplasm of larynx (other cancers excluded from controls) 0.0002312 0.398 0.108 MYO15A rs200451098 17:18154132:T:C 17 18154132 T C 17:18057446 0.949887 454 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diseases of external ear 0.00101 1.1813 0.3592 MYO15A rs184435771 17:18154714:G:A 17 18154714 G A 17:18058028 0.976813 340 missense_variant recessive Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fissure and fistula of anal and rectal regions 0.000296 1.5946 0.4406 MYO15A rs140140417 17:18155154:G:A 17 18155154 G A 17:18058468 0.928057 90 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cleft lip and cleft palate 0.000227 42.3634 11.4888 MYO15A rs140029076 17:18161408:C:T 17 18161408 C T 17:18064722 0.984082 1269 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Hypertensive Heart Disease 0.000472 0.8156 0.2333 Problems related to medical facilities and other health care 0.002723 34.884 11.638 MYO15A rs201712137 17:18163296:G:A 17 18163296 G A 17:18066610 0.901751 390 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Gastro-oesophageal reflux disease 0.000254 0.8743 0.239 MYO15A rs79230542 17:18171737:G:A 17 18171737 G A 17:18075051 0.979542 1306 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Hypertensive Heart Disease 0.000224 0.8566 0.2322 Problems related to medical facilities and other health care 0.002723 34.884 11.638 MYO15A rs188485743 17:18172182:C:T 17 18172182 C T 17:18075496 0.944028 0.00171209 6 623 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Chronic ulcer of skin, not elsewhere classified 5.3e-05 4.2158 1.043 Right bundle-branch block 0.0009103 73.625 22.197 MYO15A rs201028204 17:18173823:C:T 17 18173823 C T 17:18077137 0.980931 0.0010561 0 388 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 6.72e-05 6.5843 1.6519 LLGL1 rs115967277 17:18229963:A:G 17 18229963 A G 17:18133277 0.988591 368 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fistulae involving female genital tract 0.00131 8.7993 2.7387 FLII rs200799100 17:18245162:G:A 17 18245162 G A 17:18148476 0.953358 504 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mild mental retardation 0.00105 4.4713 1.365 FLII rs139095003 17:18246773:TCTC:T 17 18246773 TCTC T 17:18150087 0.991944 0.00375897 6 1375 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertensive heart and/or renal disease 9.51e-05 0.8236 0.211 Problems related to medical facilities and other health care 0.002723 34.884 11.638 FLII rs138059393 17:18249353:G:A 17 18249353 G A 17:18152667 0.997221 4689 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hallux valgus (acquired) 0.000143 -0.3269 0.086 Other diseases of blood and blood-forming organs 0.00221 3.586 1.172 TOP3A rs34001746 17:18285268:A:C 17 18285268 A C 17:18188582 0.969488 305 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary ataxia 0.000545 12.6917 3.6708 TOP3A rs117856165 17:18302619:C:T 17 18302619 C T 17:18205933 0.972623 204 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the myoneural junction and muscle 0.000199 3.7562 1.0098 SMCR8 rs79875842 17:18316954:A:G 17 18316954 A G 17:18220268 0.961005 1565 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adjustment and management of implanted device 0.000361 1.034 0.2899 Lagophthalmos 0.001031 80.755 24.605 SHMT1 rs1979277 17:18328782:G:A 17 18328782 G A 17:18232096 0.999714 82183 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Chronic diseases of tonsils and adenoids 0.00123 0.0407 0.0126 Other keratitis 0.000277 0.167 0.046 FBXW10 rs17852531 17:18749875:G:T 17 18749875 G T 17:18653188 0.973174 0.0575196 1360 19772 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of head and neck 3.7e-05 0.8964 0.2173 Perineal laceration during delivery 0.0004625 0.802 0.229 FAM83G rs201344489 17:18978292:C:A 17 18978292 C A 17:18881605 0.971252 3222 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Testicular dysfunction 0.000301 2.2438 0.6207 Nummular dermatitis 0.000201 20.369 5.479 B9D1 rs4924987 17:19343762:G:A 17 19343762 G A 17:19247075 0.995159 59676 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contraceptive management 0.000357 -0.0663 0.0186 Superficial injury of ankle and foot 0.001059 -0.103 0.032 ALDH3A2 rs72547554 17:19648999:C:G 17 19648999 C G 17:19552312 0.983992 2173 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Acute lymphadenitis 0.00111 1.1428 0.3504 Abnormal spermatozoa 0.0002518 16.406 4.482 ALDH3A2 rs61737992 17:19671783:C:T 17 19671783 C T 17:19575096 0.974629 1016 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Sjögren-Larsson syndrome;not provided;not specified Prolonged pregnancy 0.001 1.3558 0.412 Crushing injury of wrist and hand 0.001608 56.301 17.848 ALDH3A2 rs7216 17:19675560:A:T 17 19675560 A T 17:19578873 0.998755 0.504491 93738 91606 LC recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pathological/recurrent dislocation and subluxation of joint, not elsewhere classified 3.58e-05 0.1759 0.0426 Pathological/recurrent dislocation and subluxation of joint, not elsewhere classified 0.0001551 0.131 0.035 ALDH3A2 rs138462610 17:19675608:G:A 17 19675608 G A 17:19578921 0.98098 994 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Localized swelling, mass and lump of skin and subcutaneous tissue 0.00101 0.8051 0.2448 ALDH3A1 rs142078447 17:19740386:C:T 17 19740386 C T 17:19643699 0.92907 579 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute bronchiolitis 0.00289 2.0409 0.6851 Examination and observation for other reasons 0.0002372 5.473 1.489 AKAP10 rs203462 17:19909228:T:C 17 19909228 T C 17:19812541 0.999929 82929 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Phakomatoses, not elsewhere classified 0.00115 0.4501 0.1385 Other and/or unspecified nontoxic goitre 1.196e-05 0.22 0.05 VTN rs112887300 17:28369659:T:A 17 28369659 T A 17:26696680 0.988173 6061 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute epiglottitis 0.00131 1.591 0.4952 Postmenopausal atrophic vaginitsi 8.578e-05 9.295 2.367 SLC46A1 rs186143284 17:28399670:G:A 17 28399670 G A 17:26726686 0.998029 2512 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Pain in thoracic spine 0.000257 0.8156 0.2231 Rosacea 0.0002285 19.654 5.333 SLC46A1 rs201837257 17:28405074:T:A 17 28405074 T A 17:26732092 0.883737 136 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified/other endometriosis 0.000904 4.9111 1.4798 FOXN1 rs2071587 17:28524584:C:T 17 28524584 C T 17:26851602 0.997627 30629 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter T-cell immunodeficiency, congenital alopecia and nail dystrophy;not specified Chronic diseases of tonsils and adenoids 0.00027 0.0748 0.0205 Other symptoms and signs involving cognitive functions and awareness 0.0001743 0.278 0.074 FOXN1 rs202144980 17:28524929:C:A 17 28524929 C A 17:26851947 0.991215 9312 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter T-cell immunodeficiency, congenital alopecia and nail dystrophy Pain and other conditions associated with female genital organs and menstrual cycle 0.000795 0.3129 0.0933 Pregnancy with abortive outcome 0.001027 0.488 0.149 FOXN1 rs199739943 17:28534755:C:T 17 28534755 C T 17:26861773 0.99776 0.00211221 0 776 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Rectum (other cancers excluded from controls) 7.48e-05 1.9181 0.4843 FOXN1 rs61749867 17:28534859:C:T 17 28534859 C T 17:26861877 0.983499 23977 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter T-cell immunodeficiency, congenital alopecia and nail dystrophy;not specified Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.00168 -0.0701 0.0223 Supervision of high-risk pregnancy 0.0003506 -0.365 0.102 FOXN1 rs201850763 17:28535043:C:T 17 28535043 C T 17:26862061 0.983441 1597 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the hip and thigh 0.000178 0.5505 0.1469 Ulcer of oesophagus 0.0002823 17.656 4.863 FOXN1 rs137872361 17:28537146:A:G 17 28537146 A G 17:26864164 0.967381 1522 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter T-cell immunodeficiency, congenital alopecia and nail dystrophy Ischaemic heart disease, wide definition 0.000141 -0.3504 0.0921 Glaucoma 3.715e-05 6.47 1.569 FOXN1 rs532648 17:28537284:G:C 17 28537284 G C 17:26864302 0.986069 0.320854 38308 79570 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tobacco use 3.01e-05 0.3937 0.0944 Dorsalgia 3.64e-06 0.059 0.013 UNC119 rs146916036 17:28547785:G:A 17 28547785 G A 17:26874803 0.994993 0.00127658 0 469 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-small cell lung cancer, squamous 4.59e-05 7.0382 1.7268 SPAG5 rs34977204 17:28592876:C:T 17 28592876 C T 17:26919894 0.959399 149 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcoholic gastritis 0.00175 16.5949 5.3012 KIAA0100 rs146809533 17:28635413:G:A 17 28635413 G A 17:26962431 0.994836 6046 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lichen sclerosus et atrophicus 0.000548 0.7227 0.2091 Scoliosis 0.001904 3.731 1.202 NEK8 rs199933041 17:28737984:G:T 17 28737984 G T 17:27065002 0.951439 0.000473614 0 174 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins 3.98e-07 1.9122 0.3772 NEK8 rs3809797 17:28738193:T:C 17 28738193 T C 17:27065211 0.997443 28691 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephronophthisis;not specified Endometriosis of ovary 0.000662 0.1801 0.0529 Glaucoma suspect 0.000922 0.336 0.102 NEK8 rs199823733 17:28738694:G:A 17 28738694 G A 17:27065712 0.95804 165 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Skin of scalp and neck 0.000418 13.1478 3.7266 TRAF4 rs35932778 17:28748316:G:A 17 28748316 G A 17:27075334 0.997619 6359 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the skin and subcutaneous tissue 0.000276 0.2211 0.0608 Anaemias 0.001005 1.269 0.386 SEZ6 rs201206867 17:28959404:C:T 17 28959404 C T 17:27286422 0.986404 1827 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inguinal hernia 0.00023 0.3727 0.1012 Pleural effusion 0.0001921 19.57 5.248 SEZ6 rs181031076 17:28981953:G:T 17 28981953 G T 17:27308971 0.979673 0.00507638 14 1851 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiac murmurs and other cardiac sounds 4.64e-05 1.4753 0.3622 Bullous pemphigoid 0.0005918 134.37 39.114 MYO18A rs201296071 17:29097338:C:T 17 29097338 C T 17:27424356 0.907136 1172 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the musculoskeletal system and connective tissue 0.000423 -0.2392 0.0679 Kela-code for behavioural disturbances in mental retardation 0.000137 463.921 121.65 MYO18A rs76590796 17:29098836:C:T 17 29098836 C T 17:27425854 0.988008 344 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn's disease of small interstine 0.00119 3.4789 1.0735 CRYBA1 rs142631461 17:29249184:C:T 17 29249184 C T 17:27576202 0.998297 8331 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cataract, congenital zonular, with sutural opacities;not specified Congenital malformations of aortic and mitral valves 0.000312 1.0002 0.2775 Other shoulder lesions 0.0009818 3.099 0.94 NUFIP2 rs139731845 17:29287168:A:G 17 29287168 A G 17:27614186 0.996641 1735 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic amputation of wrist and hand 0.00038 2.0413 0.5744 Moderate visual impairment, binocular 3.799e-05 38.6 9.37 EFCAB5 rs201197242 17:29941839:G:A 17 29941839 G A 17:28268857 0.995229 5742 pLoF unknown not provided not_provided no assertion provided none Dislocation of lens 0.000597 1.8265 0.5321 Other juvenile arthritis 0.002487 6.961 2.301 SLC6A4 rs6352 17:30203175:T:G 17 30203175 T G 17:28530193 0.992592 14365 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behavior disorder Other and unspecified disorders of skin and subcutaneous tissue 0.000104 0.5109 0.1317 Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.0005607 3.658 1.06 BLMH rs1050565 17:30249058:T:C 17 30249058 T C 17:28576076 0.999756 82105 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Endometriosis of ovary 0.00101 -0.1024 0.0311 Occupational exposure to risk-factors 0.001193 0.298 0.092 RNF135 rs368080023 17:30971372:A:G 17 30971372 A G 17:29298390 0.950998 4290 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Abnormal involuntary movements 0.000802 0.6309 0.1882 0.001221 4.313 1.334 RNF135 rs111902263 17:30971417:G:A 17 30971417 G A 17:29298435 0.970894 8952 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Anosmia 0.00114 0.895 0.2751 Reactive arthropathies, FINNGEN 0.0002281 3.253 0.883 RNF135 rs61749868 17:30999137:G:T 17 30999137 G T 17:29326155 0.966243 1823 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.00017 0.3601 0.0958 Congenital deformities of feet 0.001549 59.909 18.927 NF1 rs199966218 17:31156029:C:G 17 31156029 C G 17:29483047 0.996128 622 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Unspecified diabetes with multiple/unspecified complications 0.000722 3.9516 1.1688 NF1 rs112306990 17:31169939:T:A 17 31169939 T A 17:29496957 0.98532 3224 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Café-au-lait macules with pulmonary stenosis;Hereditary cancer-predisposing syndrome;Neurofibromatosis, familial spinal;Neurofibromatosis, type 1;Neurofibromatosis-Noonan syndrome;not provided;not specified Abnormalities of heart beat 0.000933 0.3867 0.1168 Glomerular diseases 0.0006247 4.809 1.406 NF1 rs151138158 17:31225225:G:A 17 31225225 G A 17:29552243 0.949157 1768 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1 Other specified cerebrovascular diseases, other cerebrovascular disorders in diseases classified elsewhere 0.000225 1.6107 0.4366 Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.001419 60.7 19.024 NF1 rs200594167 17:31232743:G:C 17 31232743 G C 17:29559761 0.925253 309 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Impetigo 0.000309 6.4261 1.7811 Eosinophilia 0.0002686 222.144 60.965 NF1 rs200022550 17:31336866:A:G 17 31336866 A G 17:29663884 0.973877 1222 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Neurofibromatosis, type 1 Type 2 diabetes with other specified/multiple/unspecified complications 0.000148 -0.4211 0.111 Benign neoplasm: Kidney 0.001002 80.054 24.333 SUZ12 rs149833913 17:31937457:G:A 17 31937457 G A 17:30264476 0.987256 6247 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other neurological diseases 0.000495 0.1986 0.057 Wegener granulomatosis 0.0004729 15.213 4.352 TMEM132E rs56879769 17:34630095:G:A 17 34630095 G A 17:32957114 0.994436 7531 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of lower leg 0.00017 0.7877 0.2095 Pervasive developmental disorders excl. Autism + Asperger 0.0001049 29.946 7.72 TMEM132E rs75594429 17:34635031:C:T 17 34635031 C T 17:32962050 0.993365 7533 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of lower leg 0.000178 0.7852 0.2095 Pervasive developmental disorders excl. Autism + Asperger 0.0001047 29.949 7.72 TMEM132E rs111689642 17:34635045:C:A 17 34635045 C A 17:32962064 0.982576 13498 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Status post-ami 0.000271 0.4182 0.1149 Infective dermatitis 0.0001389 1.495 0.392 CCT6B rs142360145 17:34942908:T:C 17 34942908 T C 17:33269927 0.99248 0.00297778 6 1088 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Parkinson's disease, strict definition (more controls excluded) 9.22e-05 1.5414 0.3942 Iron deficiency anaemia secondary to blood loss (chronic) 0.0001574 18.751 4.962 LIG3 rs3744356 17:34986110:C:T 17 34986110 C T 17:33313129 0.932228 210 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Total colectomy operation 0.000506 7.6668 2.2045 RAD51D rs28363284 17:35103294:T:C 17 35103294 T C 17:33430313 0.992555 694 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of neck 0.000306 6.1891 1.7144 RAD51D rs4796033 17:35106468:C:T 17 35106468 C T 17:33433487 0.995216 0.165966 10220 50754 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other bacterial diseases 1.3e-05 -0.0709 0.0163 Acute alcohol intoxication 0.0008667 0.209 0.063 RAD51D rs180869630 17:35116913:T:C 17 35116913 T C 17:33443932 0.992375 0.00080841 2 295 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of conjunctiva 5.16e-05 3.5088 0.8667 FNDC8 rs149433213 17:35121814:A:G 17 35121814 A G 17:33448833 0.978419 1451 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasms 0.000213 0.2501 0.0675 Gastro-oesophageal reflux disease 0.0003243 5.519 1.535 UNC45B rs41389545 17:35164145:A:G 17 35164145 A G 17:33491164 0.987983 5146 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peritonsillar abscess 0.000119 0.4314 0.1121 Other noninflammatory disorders of vagina 0.001583 4.575 1.448 UNC45B rs11654824 17:35186318:T:A 17 35186318 T A 17:33513337 0.990315 23996 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary ataxia 0.000564 0.8882 0.2575 Disorders resulting from impaired renal tubular function 0.0004214 1.849 0.524 SLFN11 rs146981586 17:35353489:C:T 17 35353489 C T 17:33680508 0.996309 3675 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins 0.000291 0.2646 0.073 Benign neoplasm: Connective and other soft tissue, unspecified 0.001405 63.04 19.739 SLFN13 rs75812929 17:35441315:T:G 17 35441315 T G 17:33768334 0.988153 0.0666543 1892 22596 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of lip, oral cavity and pharynx (other cancers excluded from controls) 5.16e-05 1.2069 0.2981 Hypertensive diseases (excluding secondary) 0.0002647 -0.205 0.056 SLFN14 rs139678049 17:35557548:A:G 17 35557548 A G 17:33884567 0.990763 1485 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Generalized epilepsy 0.00109 1.0644 0.3258 PEX12 rs139417458 17:35576140:C:A 17 35576140 C A 17:33903159 0.974015 0.000424619 0 156 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Heart failure,strict 9.14e-05 1.7415 0.4451 PEX12 rs138731505 17:35577267:G:A 17 35577267 G A 17:33904286 0.988259 0.00231635 4 847 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Vitamin D deficiency 6.43e-05 8.9507 2.2396 Dislocation, sprain and strain of joints and ligaments of head 0.0004181 172.005 48.749 PEX12 rs147530802 17:35577920:T:A 17 35577920 T A 17:33904939 0.993446 3987 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Systemic atrophies primarly affecting the central nervous system 0.000215 1.3935 0.3765 Glomerular diseases 5.857e-06 4.792 1.058 TAF15 rs117677306 17:35820218:G:A 17 35820218 G A 17:34147222 0.991747 960 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Infections of breast associated with childbirth 0.000716 3.2964 0.9743 TAF15 rs560641478 17:35844706:CGGCTATGGAGGAGACCGAGGAGGT:C 17 35844706 CGGCTATGGAGGAGACCGAGGAGGT C 17:34171710 0.986398 7060 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diffuse brain injury 0.00013 0.952 0.2488 Vertical strabismus 0.0007896 10.688 3.184 HEATR9 rs116191233 17:35864811:G:A 17 35864811 G A 17:34191815 0.992799 3189 pLoF unknown not provided not_provided no assertion provided none not provided Subacute thyroiditis 0.00151 1.454 0.4584 Benign neoplasm: other/unspecified salivary gland 6.033e-05 38.828 9.679 ZNHIT3 rs148890852 17:36486940:C:T 17 36486940 C T 17:34842784 0.924693 1664 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria PEHO syndrome Proliferative diabetic retinopathy 0.000664 -0.4893 0.1437 Visual impairment including blindness (binocular or monocular) 0.0004122 136.845 38.743 PIGW rs61755368 17:36537806:C:G 17 36537806 C G 17:34893655 0.965673 8447 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Localized scleroderma [morphea] 0.000503 1.5445 0.4439 Nonorganic sleeping disorders (more controls excluded) 0.0006335 2.52 0.738 HNF1B rs187556368 17:37701043:C:T 17 37701043 C T 17:36061048 0.962697 8808 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypoplastic, glomerulocystic kidney Abnormalities of heart beat 4e-04 0.2509 0.0709 Problems related to life-management difficulty 1.444e-06 3.945 0.819 HNF1B rs147816724 17:37744703:A:C 17 37744703 A C 17:36104694 0.944958 0.000811132 0 298 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ventral hernia 3.95e-05 2.5582 0.6223 GPR179 rs200936863 17:38327594:C:T 17 38327594 C T 17:36483477 0.98769 579 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.000117 11.233 2.9154 GPR179 rs62073368 17:38327639:G:T 17 38327639 G T 17:36483522 0.990538 14552 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Dislocation, sprain and strain of joints and ligaments at wrist and hand level 1e-04 0.2426 0.0623 Type 1 diabetes with ketoacidosis 0.0004473 1.518 0.432 GPR179 rs149998444 17:38328681:C:G 17 38328681 C G 17:36484564 0.885198 255 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter DVT of lower extremities 0.00367 1.4521 0.4998 GPR179 rs147966258 17:38329263:G:A 17 38329263 G A 17:36485146 0.992444 4682 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Stationary Night Blindness, Recessive;not provided Endocarditis 0.00112 1.2439 0.3817 Endocarditis 0.0002459 19.534 5.328 GPR179 rs149252987 17:38330115:A:G 17 38330115 A G 17:36485998 0.996222 2069 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Episcleritis 0.00054 1.626 0.47 Abnormal findings on antenatal screening of mother 0.0001546 19.864 5.25 GPR179 rs55727040 17:38330121:T:C 17 38330121 T C 17:36486004 0.985342 6368 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Disorders of lens 0.00139 0.1481 0.0463 Abscess of Bartholin gland 0.001537 8.741 2.759 GPR179 rs72832277 17:38330919:G:A 17 38330919 G A 17:36486802 0.985585 6397 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Disorders of lens 0.0015 0.1468 0.0462 Abscess of Bartholin gland 0.001536 8.745 2.76 GPR179 rs201214109 17:38330965:C:G 17 38330965 C G 17:36486848 0.95616 4889 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Hypertension 0.000892 -0.1459 0.0439 Nontoxic single thyroid nodule 0.000264 7.43 2.036 GPR179 rs770066665 17:38337639:AG:A 17 38337639 AG A 17:36493522 0.865205 0.000873736 0 321 pLoF recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Ventral hernia 1.55e-05 2.5185 0.5827 GPR179 rs189931659 17:38337665:C:T 17 38337665 C T 17:36493548 0.924322 281 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peroneal tendinitis 0.000949 13.0688 3.954 Inflammation of lacrimal passages (chronic) 0.002952 36.16 12.164 GPR179 rs137934209 17:38337703:A:T 17 38337703 A T 17:36493586 0.986153 3515 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital Stationary Night Blindness, Recessive Other and unspecified injuries of wrist and hand 0.00106 1.4616 0.4465 Other and unspecified nonorganic psychotic disorders 6.791e-05 11.139 2.796 LASP1 rs141320621 17:38878112:C:T 17 38878112 C T 17:37034365 0.999246 0.0152509 104 5499 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bacterial diseases 3.53e-05 0.2033 0.0491 Coronary artery bypass grafting 0.001621 1.892 0.6 CDK12 rs34070318 17:39530667:C:T 17 39530667 C T 17:37686920 0.990816 0.0163805 130 5888 missense_variant unknown not provided not_provided no assertion provided none not specified Wide developmental disorders 3.29e-05 1.5489 0.373 Superficial injury of thorax 0.0004633 3.776 1.078 PPP1R1B rs79497069 17:39635843:C:A 17 39635843 C A 17:37792096 0.997245 2241 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.000698 2.0696 0.6104 Non-small cell lung cancer, squamous 0.001249 64.952 20.125 TCAP rs45495192 17:39665391:CGGA:C 17 39665391 CGGA C 17:37821644 0.965792 307 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Myocardial infarction, strict 0.000414 1.2251 0.3469 TCAP rs149585781 17:39666063:G:A 17 39666063 G A 17:37822316 0.980972 824 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Dilated cardiomyopathy 1N;Dilated cardiomyopathy 1N;Dilated cardiomyopathy 1N;Limb-girdle muscular dystrophy, type 2G;Primary familial hypertrophic cardiomyopathy;not provided;not specified Injury of nerves at lower leg level 0.000588 7.3264 2.1316 Sexual dysfunction 0.0003661 181.439 50.917 PNMT rs34341496 17:39670063:G:A 17 39670063 G A 17:37826316 0.991439 4069 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of other connective and soft tissue 0.000266 1.934 0.5304 Open wound of abdomen, lower back and pelvis 0.0007037 10.222 3.017 PGAP3 rs35464006 17:39684607:G:C 17 39684607 G C 17:37840860 0.99289 0.0334633 382 11912 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Hodgkin lymphoma (other cancers excluded from controls) 9.8e-05 1.0369 0.2662 Circumscribed brain atrophy 0.0001985 8.454 2.272 ERBB2 rs4252596 17:39699581:C:A 17 39699581 C A 17:37855834 0.982551 26487 missense_variant unknown not provided not_provided no assertion provided none not specified Multiple gestation 0.000278 0.3216 0.0885 Brachial plexus disorders 7.998e-05 0.989 0.251 ERBB2 rs193171026 17:39700281:C:T 17 39700281 C T 17:37856534 0.97427 0.00347589 10 1267 missense_variant unknown not provided not_provided no assertion provided none not specified Myalgia 6.5e-05 1.1086 0.2776 Pregnancy hypertension 7.251e-05 5.435 1.37 ERBB2 rs141116145 17:39715294:C:A 17 39715294 C A 17:37871547 0.94288 846 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Other/unspecified site (other cancers excluded from controls) 0.00201 5.0646 1.6394 Malignant neoplasm of rectosigmoid junction (other cancers excluded from controls) 0.000305 193.612 53.617 ERBB2 rs1801201 17:39723332:A:G 17 39723332 A G 17:37879585 0.961234 549 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria ERBB2 POLYMORPHISM;not specified Other overlap syndromes 0.00125 5.8838 1.8236 Meralgia paraesthetica 0.001087 77.773 23.806 ERBB2 rs1136201 17:39723335:A:G 17 39723335 A G 17:37879588 0.997639 0.300053 33090 77146 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Other metabolic disorders 1.82e-05 0.1968 0.0459 Other metabolic disorders 3.259e-05 0.218 0.052 ERBB2 rs1058808 17:39727784:C:G 17 39727784 C G 17:37884037 0.999318 0.674565 167122 80705 missense_variant unknown not provided not_provided no assertion provided none Childhood asthma (age<16) (more controls excluded) 1.61e-14 -0.2671 0.0348 Childhood asthma (age<16) (more controls excluded) 1.068e-09 -0.141 0.023 ERBB2 rs55943169 17:39727923:C:A 17 39727923 C A 17:37884176 0.993745 0.0170637 114 6155 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Varicose veins 2.69e-07 -0.2898 0.0563 Poisoning by drugs, medicaments and biological substances 0.0001121 2.763 0.715 ZPBP2 rs115778431 17:39875395:A:G 17 39875395 A G 17:38031648 0.996173 3460 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of continuity of bone 0.000559 0.9511 0.2756 Phobic anxiety disorders 0.0005997 4.51 1.314 CDC6 rs4135010 17:40293507:A:G 17 40293507 A G 17:38449759 0.967199 217 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Achilles tendinitis 0.000502 3.4029 0.978 CDC6 rs4135012 17:40293996:G:A 17 40293996 G A 17:38450248 0.99988 6742 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other specified/unspecified soft tissue disorders 0.000553 0.7316 0.2119 Muscle strain 3.696e-05 14.694 3.561 CDC6 rs13706 17:40300899:G:A 17 40300899 G A 17:38457151 0.999751 0.112342 4668 36605 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Phlebitis and thrombophlebitis (not including DVT) 2.86e-05 -0.1935 0.0462 Progressive vascular leukoencephalopathy 0.0006229 1.287 0.376 TOP2A rs202201081 17:40396422:G:C 17 40396422 G C 17:38552674 0.976655 157 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other hammer toe(s) (acquired) 0.00111 2.8986 0.8891 TOP2A rs61732514 17:40398936:A:G 17 40398936 A G 17:38555188 0.986374 3703 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Manic episode 0.000189 1.298 0.3477 Dementia due to Parkinsons disease 0.002575 12.024 3.989 TOP2A rs61756342 17:40403017:T:A 17 40403017 T A 17:38559269 0.990071 0.0005961 0 219 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anisometropia and aniseikonia 9.54e-05 11.9847 3.0713 TNS4 rs140032692 17:40480702:G:A 17 40480702 G A 17:38636954 0.985709 16429 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tobacco use 0.000871 0.698 0.2096 Hypertension 0.0005135 0.247 0.071 TNS4 rs144692706 17:40487189:C:T 17 40487189 C T 17:38643441 0.940155 0.00378074 6 1383 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other headache syndromes 7.13e-05 0.6617 0.1666 Panic disorder 0.0001622 18.809 4.987 KRT25 rs140952603 17:40751280:T:G 17 40751280 T G 17:38907532 0.927189 131 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presbycusis 0.000421 5.4521 1.546 KRT10 rs752563839 17:40818881:T:TGCTGCCGCCGCCGGA 17 40818881 T TGCTGCCGCCGCCGGA 17:38975133 0.995777 4834 inframe_indel both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Depression medications 0.000293 -0.1745 0.0482 Spinal stenosis 8.679e-05 2.294 0.584 KRT10 rs77919366 17:40822210:C:T 17 40822210 C T 17:38978462 0.999288 65862 missense_variant both not provided not_provided no assertion provided none Ulcerative colitis ( strict definition, require KELA) 0.000409 -0.1359 0.0385 Postprocedural endocrine and metabolic disorders, not elsewhere classified 0.0002616 0.251 0.069 KRT12 rs139647784 17:40863770:A:G 17 40863770 A G 17:39020022 0.996526 1032 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical observation and evaluation for suspected diseases and conditions 0.00206 0.312 0.1013 KRT12 rs11650915 17:40867144:G:A 17 40867144 G A 17:39023396 0.998183 81186 missense_variant dominant not provided not_provided no assertion provided none Disturbances of skin sensation 0.000264 0.104 0.0285 Congenital malformations of the urinary system 6.271e-05 0.265 0.066 KRT20 rs143378689 17:40880748:G:A 17 40880748 G A 17:39037000 0.996861 1096 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperkinetic disorders (excl. ADHD) 0.000769 4.8108 1.4301 KRT20 rs148091209 17:40880765:T:C 17 40880765 T C 17:39037017 0.946253 2176 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic ischaemia of muscle 0.000331 3.8308 1.067 Impacted cerumen 0.0001716 18.398 4.896 KRTAP1-3 rs62624960 17:41034721:C:CAGCTGGTCTCACAGCAGCTTGGCTGGCAGG 17 41034721 C CAGCTGGTCTCACAGCAGCTTGGCTGGCAGG 17:39190973 0.907287 0.0252567 236 9043 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of iris and ciliary body 4.95e-05 1.4283 0.352 Other specified/unsepecified deforming dorsopathies 0.0002139 9.754 2.635 KRTAP1-1 rs751890300 17:41041188:GC:G 17 41041188 GC G 17:39197440 0.958008 0.000789356 0 290 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (undefined) 6.42e-05 11.8119 2.9554 KRTAP4-8 rs72625995 17:41097583:C:T 17 41097583 C T 17:39253835 0.992505 81417 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic maculopathy (more controls excluded) 0.000163 -0.1568 0.0416 Diabetic maculopathy (more controls excluded) 9.486e-05 -0.109 0.028 KRT13 rs144967807 17:41501357:C:T 17 41501357 C T 17:39657609 0.840663 1087 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other female pelvic inflammatory diseases 0.00248 0.9347 0.3089 KRT13 rs9891361 17:41503661:G:A 17 41503661 G A 17:39659913 0.992641 27657 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple gestation 0.000188 -0.3215 0.0861 Other abnormal immunological findings in serum 0.0001495 -0.417 0.11 KRT13 rs760134 17:41505114:G:C 17 41505114 G C 17:39661366 0.993787 0.0375625 578 13222 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter White sponge nevus of cannon Multiple gestation 7.46e-05 0.5023 0.1268 Infections of breast associated with childbirth 0.0007676 3.348 0.995 KRT13 rs142183272 17:41505142:G:A 17 41505142 G A 17:39661394 0.985656 3796 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter White sponge nevus of cannon Congenital malformations of the urinary system 0.000151 1.1432 0.3017 Siatica+with lumbago 6.326e-06 4.329 0.959 KRT13 rs149623369 17:41505167:G:A 17 41505167 G A 17:39661419 0.823132 9.52671e-05 0 35 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of urinary organs 3.98e-05 11.7907 2.8696 KRT19 rs4602 17:41528069:G:C 17 41528069 G C 17:39684321 0.997595 0.644961 152570 84381 missense_variant unknown not provided not_provided no assertion provided none Asthma-related infections 8.31e-06 0.0363 0.0081 Asthma-related infections 8.546e-06 0.025 0.006 KRT9 rs148867398 17:41571748:C:T 17 41571748 C T 17:39728000 0.980003 729 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in other circumstances 0.000203 0.4657 0.1253 KRT14 rs59780231 17:41583272:C:T 17 41583272 C T 17:39739524 0.951671 0.0416508 680 14622 missense_variant both not provided not_provided no assertion provided none not provided Other spirochaetal diseases 3.24e-05 0.5413 0.1303 Pain associated with micturition 0.002829 1.28 0.429 KRT14 rs3826550 17:41586555:C:T 17 41586555 C T 17:39742807 0.995121 82335 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Actinic keratosis 0.000358 -0.0967 0.0271 Chronic diseases of tonsils and adenoids 3.032e-05 -0.056 0.013 KRT14 rs142137272 17:41586633:C:T 17 41586633 C T 17:39742885 0.850057 186 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behavioural disorders due to sedatives or hypnotics 0.00257 4.8538 1.61 KRT14 rs117484558 17:41586669:G:A 17 41586669 G A 17:39742921 0.966289 0.00675852 26 2457 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of eyelid in diseases classified elsewhere 1.36e-06 2.8083 0.5813 Spontaneous rupture of synovium and tendon 0.0004202 15.044 4.265 KRT16 rs56259134 17:41610359:G:A 17 41610359 G A 17:39766611 0.958259 0.00215576 6 786 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Placenta praevia 6.03e-05 3.7176 0.9267 Varus deformity, not elsewhere classified 0.0003802 183.979 51.774 KRT16 rs141569849 17:41610443:G:A 17 41610443 G A 17:39766695 0.973423 0.00461093 10 1684 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of eyelid in diseases classified elsewhere 3.66e-05 2.8581 0.6924 Other endocrine disorders 0.002588 32.639 10.833 KRT16 rs62066634 17:41612490:C:T 17 41612490 C T 17:39768742 0.925978 2851 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to alcohol, excluding acute intoxication 0.000806 -0.364 0.1086 Primary open-angle glaucoma 0.0001452 7.014 1.846 KRT17 rs150004075 17:41624191:C:T 17 41624191 C T 17:39780443 0.964066 0.00454288 10 1659 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of eyelid in diseases classified elsewhere 2.99e-05 2.9245 0.7007 Other endocrine disorders 0.002591 32.612 10.826 HAP1 rs41314644 17:41725075:T:C 17 41725075 T C 17:39881327 0.987736 0.00422986 16 1538 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Habitual aborter 9.22e-05 4.1675 1.0658 Pollen allergy 0.0006083 23.449 6.841 JUP rs1126821 17:41755893:T:A 17 41755893 T A 17:39912145 0.998781 0.670517 165040 81300 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of ocular muscles, binocular movement, accommodation and refraction 3.49e-06 -0.0926 0.02 Disorders of ocular muscles, binocular movement, accommodation and refraction 5.753e-06 -0.061 0.013 JUP rs143043662 17:41757519:C:T 17 41757519 C T 17:39913771 0.991176 5269 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy, type 12;Cardiomyopathy;Cardiovascular phenotype;Naxos disease;not provided;not specified Migraine with aura 0.00118 0.3686 0.1136 Type 1 diabetes, wide definition, subgroup 2 0.0004392 15.432 4.39 JUP rs41283425 17:41769461:C:T 17 41769461 C T 17:39925713 0.994133 21767 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 12;Cardiovascular phenotype;Naxos disease;not specified Degeneration of the brain due to alcohol 0.000555 0.6576 0.1905 Degeneration of nervous system due to alcohol 3.963e-05 3.032 0.738 FKBP10 rs34764749 17:41818390:A:G 17 41818390 A G 17:39974642 0.992424 0.0585212 1336 20164 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Osteogenesis Imperfecta, Recessive;not specified Benign neoplasm of thyroid gland (other cancers excluded from controls) 4.51e-05 0.6758 0.1656 Hyperplasia of prostate 0.001122 0.361 0.111 FKBP10 rs146422412 17:41820461:C:T 17 41820461 C T 17:39976713 0.986253 586 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Acute upper respiratory infections 0.000126 0.4547 0.1186 FKBP10 rs138281924 17:41822326:G:A 17 41822326 G A 17:39978578 0.989701 455 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bruck syndrome 1;Osteogenesis Imperfecta, Recessive;Osteogenesis imperfecta, type XI;not provided Other joint disorders 0.000439 -0.4815 0.137 Haemolytic anaemias 0.0005438 142.344 41.161 KLHL10 rs61752339 17:41845328:T:C 17 41845328 T C 17:40001580 0.957653 1239 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of peritoneum 0.000236 2.2846 0.6212 Postzoster neuralgia 0.0001884 322.348 86.326 KLHL10 rs370756367 17:41845378:G:A 17 41845378 G A 17:40001630 0.982872 314 missense_variant dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Other diseases caused by chlamydiae 0.000781 10.8755 3.2372 ACLY rs148168367 17:41886139:T:C 17 41886139 T C 17:40042392 0.990153 395 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis 0.00136 1.0287 0.3211 KAT2A rs781885483 17:42118011:ACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG:A 17 42118011 ACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG A 17:40270029 0.944763 0.0125344 70 4535 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple myeloma and malignant plasma cell neoplasms 8.88e-05 1.3601 0.347 Other congenital malformations of ear 0.0001059 28.089 7.246 STAT5B rs200042237 17:42202392:C:A 17 42202392 C A 17:40354410 0.975992 173 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of mouth and pharynx (other cancers excluded from controls) 0.000266 4.8819 1.3388 PTRF rs146799286 17:42404937:T:C 17 42404937 T C 17:40556955 0.915144 161 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Divergent concomitant strabismus 0.00144 4.924 1.5448 PTRF rs146547678 17:42422742:A:T 17 42422742 A T 17:40574760 0.997558 1394 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Hereditary corneal dystrophies 0.00099 3.0773 0.9344 Other diseases caused by chlamydiae 0.0006875 108.442 31.946 NAGLU rs86312 17:42544215:C:G 17 42544215 C G 17:40696233 0.989851 0.878156 283546 39078 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diplopia 5.82e-05 -0.2416 0.0601 3.007e-05 -0.087 0.021 COASY rs615942 17:42562786:C:A 17 42562786 C A 17:40714804 0.999821 0.537339 106232 91180 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of breast 4.05e-05 -0.0822 0.02 1.46e-05 0.034 0.008 PSMC3IP rs2292754 17:42573361:A:T 17 42573361 A T 17:40725379 0.997405 0.0135334 98 4874 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Prurigo nodularis 5.21e-05 1.9029 0.4703 Alcohol abuse, main dg 6.022e-05 4.261 1.062 CNTNAP1 rs137982413 17:42688996:G:A 17 42688996 G A 17:40841014 0.87834 83 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal infectious and parasitic diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.000646 25.3134 7.4203 WNK4 rs61754326 17:42780937:C:A 17 42780937 C A 17:40932955 0.896357 25 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified paralytic syndromes 0.00422 49.748 17.3857 WNK4 rs55781437 17:42787837:G:T 17 42787837 G T 17:40939855 0.976865 1439 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pseudohypoaldosteronism, type 2 Hypertensive heart and/or renal disease 0.00019 0.8434 0.226 Dorsalgia 5.238e-05 2.917 0.721 WNK4 rs149389156 17:42793641:G:A 17 42793641 G A 17:40945659 0.997783 0.00495661 14 1807 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pseudohypoaldosteronism, type 2 Chronic hepatitis, not elsewhere classified 8.67e-05 2.4475 0.6236 Unspecified lump in breast 0.0007535 9.19 2.728 WNK4 rs200823152 17:42793647:G:A 17 42793647 G A 17:40945665 0.988733 0.000898233 0 330 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other bacterial diseases 5.33e-05 0.8705 0.2154 WNK4 rs56227191 17:42794790:C:A 17 42794790 C A 17:40946808 0.995251 502 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified mental disorder 0.000139 1.2936 0.3395 WNK4 rs2290041 17:42795302:C:T 17 42795302 C T 17:40947320 0.976795 1444 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pseudohypoaldosteronism, type 2 Hypertensive heart and/or renal disease 0.000206 0.8368 0.2254 Open wound of thorax 0.0002207 318.089 86.108 WNK4 rs56099549 17:42795676:C:T 17 42795676 C T 17:40947694 0.990154 8856 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pseudohypoaldosteronism, type 2 Retained placenta and membranes, without haemorrhage 0.00104 -0.529 0.1613 Diabetes, several complications 0.0009439 0.991 0.3 WNK4 rs148648427 17:42795853:T:C 17 42795853 T C 17:40947871 0.989654 13181 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pseudohypoaldosteronism, type 2 AION (anterior ischemic optic neuropathy) 0.000874 0.9551 0.287 Superficial injury of abdomen, lower back and pelvis 0.00045 1.371 0.391 WNK4 rs200519604 17:42796286:C:A 17 42796286 C A 17:40948304 0.983195 2979 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pseudohypoaldosteronism, type 2 Disorders of synovium and tendon in diseases classified elsewhere 0.000301 2.4097 0.6667 Abnormal serum enzyme levels 0.001131 4.154 1.276 WNK4 rs56116165 17:42796301:C:T 17 42796301 C T 17:40948319 0.996695 8942 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pseudohypoaldosteronism, type 2 Retained placenta and membranes, without haemorrhage 0.00119 -0.5286 0.163 Type 1 diabetes, wide definition, subgroup 2 0.001005 10.745 3.267 AOC3 rs2229595 17:42852329:G:A 17 42852329 G A 17:41004346 0.963152 2625 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gout, strict definition 0.00166 0.8002 0.2543 0.0006036 1.458 0.425 AOC3 rs147693206 17:42852400:C:G 17 42852400 C G 17:41004417 0.995705 1883 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Scoliosis 0.00036 1.2986 0.364 Retinoschisis and retinal cysts 0.001659 55.178 17.543 G6PC rs145172999 17:42911046:G:A 17 42911046 G A 17:41063063 0.987409 148 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Symptoms and signs involving speech and voice 0.000588 2.3235 0.676 IFI35 rs150695787 17:43013615:G:A 17 43013615 G A 17:41165632 0.978975 894 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Palindromic rheumatism 0.000423 7.9591 2.2575 Burn and corrosion of head and neck 0.0002599 263.795 72.228 BRCA1 rs80357270 17:43057131:T:A 17 43057131 T A 17:41209148 0.866202 248 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other demyelinating diseases of the central nervous system 0.000287 8.8285 2.4345 BRCA1 rs80356860 17:43063909:C:G 17 43063909 C G 17:41215926 0.93982 22 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Primary coxarthrosis, bilateral 0.0028 6.3686 2.1305 BRCA1 rs1799967 17:43070958:C:T 17 43070958 C T 17:41222975 0.996854 0.0447456 804 15635 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Other diseases of appendix 4.35e-06 1.5939 0.347 Superficial injury of abdomen, lower back and pelvis 0.0003021 1.194 0.33 BRCA1 rs4986854 17:43071031:A:G 17 43071031 A G 17:41223048 0.993378 2393 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast-ovarian cancer, familial 1;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;Neoplasm of the breast;not provided;not specified Perioral dermatitis 0.000707 2.8728 0.8483 Placenta praevia 7.467e-05 29.603 7.474 BRCA1 rs1799966 17:43071077:T:C 17 43071077 T C 17:41223094 0.999544 0.382653 54036 86546 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Other diseases of appendix 6.24e-05 0.5242 0.1309 Other diseases of appendix 3.442e-05 0.557 0.135 BRCA1 rs1800744 17:43074471:C:A 17 43074471 C A 17:41226488 0.989249 0.00111054 0 408 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Benign paroxysmal vertigo 8.17e-05 1.8815 0.4776 BRCA1 rs28897689 17:43091492:T:C 17 43091492 T C 17:41243509 0.982422 934 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Coagulation defects, purpura and other haemorrhagic conditions 0.000323 1.2435 0.3458 Hernia 3.961e-05 1.748 0.425 BRCA1 rs28897688 17:43091818:G:A 17 43091818 G A 17:41243835 0.993083 377 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Acute lymphadenitis 0.000833 3.2063 0.9595 BRCA1 rs80357902 17:43091882:A:G 17 43091882 A G 17:41243899 0.946467 128 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aneurysms, operations, SAH 0.000319 4.7005 1.306 BRCA1 rs55930959 17:43091923:C:T 17 43091923 C T 17:41243940 0.881981 168 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Burns and corrosions 0.0012 3.4949 1.0793 BRCA1 rs16942 17:43091983:T:C 17 43091983 T C 17:41244000 0.999978 86509 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Other diseases of appendix 0.000101 0.5085 0.1308 Other diseases of appendix 7.862e-05 0.527 0.133 BRCA1 rs80357201 17:43092235:G:A 17 43092235 G A 17:41244252 0.934863 218 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Injury of other and unspecified intrathoracic organs 0.00179 5.2704 1.6881 BRCA1 rs4986852 17:43092412:C:T 17 43092412 C T 17:41244429 0.989764 1766 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Other demyelinating diseases of the central nervous system 0.00011 2.3743 0.614 Inflammatory diseases of female pelvic organs 0.0001295 5.237 1.368 BRCA1 rs16941 17:43092418:T:C 17 43092418 T C 17:41244435 0.999956 0.382489 54006 86516 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Other diseases of appendix 6.15e-05 0.5246 0.1309 Other diseases of appendix 3.417e-05 0.558 0.135 BRCA1 rs1800704 17:43092507:C:T 17 43092507 C T 17:41244524 0.976234 54 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Postmenopausal bleeding 0.000292 3.8993 1.0766 BRCA1 rs799917 17:43092919:G:A 17 43092919 G A 17:41244936 0.999873 86734 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Other diseases of appendix 0.000131 0.4997 0.1306 Other diseases of appendix 9.487e-05 0.517 0.132 BRCA1 rs1800709 17:43093010:G:A 17 43093010 G A 17:41245027 0.968284 245 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Dorsopathies 0.000418 0.5957 0.1688 BRCA1 rs4986850 17:43093454:C:T 17 43093454 C T 17:41245471 0.999527 27423 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast-ovarian cancer, familial 1;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Paralytic ileus and intestinal obstruction 0.00028 0.1748 0.0481 Other and unspecified injuries of ankle and foot 0.001437 1.231 0.386 BRCA1 rs587782770 17:43094288:C:T 17 43094288 C T 17:41246305 0.808251 99 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary open-angle glaucoma 0.00114 3.0331 0.9325 BRCA1 rs1799950 17:43094464:T:C 17 43094464 T C 17:41246481 0.995099 24779 missense_variant both Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Breast-ovarian cancer, familial 1;Ductal breast carcinoma;Familial cancer of breast;Hereditary breast and ovarian cancer syndrome;Hereditary cancer-predisposing syndrome;not provided;not specified Statin medication 0.00225 0.0568 0.0186 0.0001505 -0.229 0.061 ETV4 rs150119757 17:43532902:A:T 17 43532902 A T 17:41610270 0.97677 829 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative enterocolitis 0.000293 3.3716 0.9311 Other deformities of toe(s) 0.0008101 110.722 33.058 MEOX1 rs9898682 17:43661455:G:A 17 43661455 G A 17:41738823 0.998003 40363 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Prepatellar bursitis 0.000325 0.353 0.0982 Fibromyalgia 0.0002678 0.721 0.198 SOST rs17882143 17:43758714:C:T 17 43758714 C T 17:41836082 0.991413 3832 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Sclerosing Bone Dysplasias Dermatitis herpetiformis 0.000108 2.2035 0.569 Other diseases of intestines 0.001473 1.23 0.387 NAGS rs140481641 17:44007442:G:A 17 44007442 G A 17:42084810 0.994542 0.00560171 18 2040 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter AV-block 4.6e-05 1.0278 0.2522 Dermatitis due to ingested food 0.0003914 187.419 52.857 HDAC5 rs139312109 17:44080836:G:T 17 44080836 G T 17:42158204 0.995405 2700 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine, single triptan purchase ok & required. ICD-code if available is included 0.00064 0.3187 0.0934 Parkinson's disease, strict definition (more controls excluded) 0.001543 7.355 2.323 SLC4A1 rs768606768 17:44249184:TC:T 17 44249184 TC T 17:42326552 0.963267 0.00483957 26 1752 LC both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Distal Renal Tubular Acidosis, Dominant;Hemolytic anemia;Spherocytosis, Dominant Asthma and allergy 8.82e-05 1.1334 0.2891 Epidural haemorrhage 0.001255 65.145 20.193 SLC4A1 rs2285644 17:44251253:G:A 17 44251253 G A 17:42328621 0.993198 274 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leiomyoma of uterus (other cancers excluded from controls) 0.000386 1.0195 0.2872 SLC4A1 rs147390654 17:44259879:C:T 17 44259879 C T 17:42337247 0.985526 393 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Localized swelling, mass and lump of skin and subcutaneous tissue 0.00015 1.5738 0.4152 SLC4A1 rs13306788 17:44260768:C:A 17 44260768 C A 17:42338136 0.998894 0.0292388 350 10392 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Distal Renal Tubular Acidosis, Dominant;Hemolytic anemia;Spherocytosis, Dominant Retinal breaks without detachment 3.61e-06 0.5054 0.1091 5.809e-05 0.983 0.244 SLC4A1 rs5036 17:44261577:T:C 17 44261577 T C 17:42338945 0.997038 2953 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Band 3 memphis;Distal Renal Tubular Acidosis, Dominant;Hemolytic anemia;Spherocytosis, Dominant;not specified Pneumonia due to Streptococcus pneumoniae 0.00225 1.2108 0.3963 Disorders of other endocrine glands 0.001753 3.602 1.151 SLC4A1 rs45562031 17:44261625:C:T 17 44261625 C T 17:42338993 0.992016 0.0122024 66 4417 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Hemolytic anemia;Pseudohyperkalemia Cardiff;Spherocytosis type 4;not provided;not specified Superficial injury of hip and thigh 6.21e-05 0.7447 0.1859 0.0004456 6.298 1.794 SLC4A1 rs5035 17:44261630:T:G 17 44261630 T G 17:42338998 0.994555 4291 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Distal Renal Tubular Acidosis, Dominant;Hemolytic anemia;Spherocytosis, Dominant;not specified Social disorders starting during childhood or adolecense 0.000732 2.8236 0.836 Other juvenile arthritis 0.0004577 15.264 4.356 GRN rs63750412 17:44352132:C:T 17 44352132 C T 17:42429500 0.996076 0.0323309 460 11418 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ceroid lipofuscinosis, neuronal, 11;Frontotemporal dementia;Frontotemporal dementia, ubiquitin-positive;Frontotemporal dementia, ubiquitin-positive;Seizures;not provided Superficial injury of abdomen, lower back and pelvis 2.86e-05 0.4462 0.1066 Benign neoplasm: Short bones of lower limb 7.492e-05 11.813 2.983 ITGA2B rs5911 17:44375697:A:C 17 44375697 A C 17:42453065 0.997867 0.423468 65840 89737 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease, wide definition 4.67e-05 0.0996 0.0245 Alzheimer's disease (Late onset) 2.364e-05 0.132 0.031 ITGA2B rs76066357 17:44385686:G:C 17 44385686 G C 17:42463054 0.985809 2711 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Lesion of plantar nerve 0.000433 1.0924 0.3104 Injury of urinary and pelvic organs 0.001784 50.178 16.062 GPATCH8 rs200060507 17:44397903:C:T 17 44397903 C T 17:42475271 0.982102 580 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Herpesviral keratitis and keratoconjunctivitis 0.00221 2.9993 0.9799 GPATCH8 rs61744303 17:44400017:T:C 17 44400017 T C 17:42477385 0.996718 4138 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Metatarsalgia 0.000605 0.7882 0.2298 Other disorders of skin and subcutaneous tissue, not elsewhere classified 0.0003667 6.682 1.875 FZD2 rs143455997 17:44558437:C:T 17 44558437 C T 17:42635805 0.985285 5379 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructed labour due to maternal pelvic abnormality 0.000539 0.5624 0.1625 Nonspesific lymphadenitis 0.0006456 5.61 1.644 GFAP rs78994946 17:44910144:G:A 17 44910144 G A 17:42987512 0.983244 13365 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Other and unspecified anaemias 0.000855 0.1951 0.0585 Impotence 0.0004723 2.721 0.778 GFAP rs199641633 17:44910194:C:T 17 44910194 C T 17:42987562 0.998364 389 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fitting and adjustment of other devices 0.00049 1.4198 0.4072 GFAP rs140004406 17:44911416:C:T 17 44911416 C T 17:42988784 0.915735 445 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alexander Disease Other puerperal infections 0.000223 3.8681 1.048 Substance abuse (more controls excluded) 2.889e-05 -7.767 1.857 GFAP rs1126642 17:44911695:C:T 17 44911695 C T 17:42989063 0.997295 5711 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alexander Disease;not provided Melanocytic naevi of eyelid, including canthus (other cancers excluded from controls) 0.00095 2.1534 0.6516 Recurrent and persistent haematuria 0.0005997 13.724 3.999 GFAP rs59291670 17:44914081:C:T 17 44914081 C T 17:42991449 0.984211 0.0162308 140 5823 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alexander Disease;not provided Other complications of labour and delivery, not elsewhere classified 4.58e-05 0.8731 0.2142 Other disorders of skin and subcutaneous tissue, not elsewhere classified 0.001159 2.848 0.877 GFAP rs57474185 17:44915347:G:A 17 44915347 G A 17:42992715 0.930801 0.00303494 12 1103 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alexander Disease;Inborn genetic diseases;not provided Congenital malformations of ovaries, fallopian tubes and broad ligaments 6.61e-05 2.6661 0.6682 Spinal stenosis 0.0005358 22.151 6.398 CRHR1 rs16940655 17:45816520:C:T 17 45816520 C T 17:43893886 0.977809 2817 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital deformities of hip 0.000775 2.4905 0.7409 Benign lipomatous neoplasm of other sites/unspecified 0.0002579 18.57 5.082 SPPL2C rs117261590 17:45845108:C:T 17 45845108 C T 17:43922474 0.928298 1000 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Keratoconus 0.000491 4.0391 1.1589 Other and unspecified disorders of white blood cells 0.001275 68.738 21.337 MAPT rs63750417 17:45983409:C:T 17 45983409 C T 17:44060775 0.999726 27407 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Idiopathic pulmonary fibrosis (attempt to specificity) 0.000255 -0.3588 0.0981 Female infertility, cervigal, vaginal, other or unspecified origin 0.00151 0.303 0.096 MAPT rs76375268 17:45983441:G:A 17 45983441 G A 17:44060807 0.965273 34 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizophrenia or delusion 0.00214 4.9592 1.6153 MAPT rs141120474 17:45983475:T:G 17 45983475 T G 17:44060841 0.962732 0.00078119 2 285 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other reactioin to severe stress, and adjustment disorders 4.31e-05 1.5533 0.3798 MAPT rs63750072 17:45983493:A:G 17 45983493 A G 17:44060859 0.991891 11609 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Frontotemporal dementia;not provided;not specified Benign neoplasm: Pituitary gland, craniopharyngeal duct (other cancers excluded from controls) 0.000371 0.6294 0.1768 Heterophoria 0.0006475 2.572 0.754 MAPT rs62063786 17:45983657:G:A 17 45983657 G A 17:44061023 0.999731 27409 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Idiopathic pulmonary fibrosis (attempt to specificity) 0.000253 -0.3589 0.0981 Female infertility, cervigal, vaginal, other or unspecified origin 0.001517 0.303 0.096 MAPT rs62063787 17:45983670:T:C 17 45983670 T C 17:44061036 0.999731 27409 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Idiopathic pulmonary fibrosis (attempt to specificity) 0.000255 -0.3588 0.0981 Female infertility, cervigal, vaginal, other or unspecified origin 0.001517 0.303 0.096 MAPT rs73314997 17:45983757:C:T 17 45983757 C T 17:44061123 0.967905 37 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizophrenia or delusion 0.00242 4.806 1.5843 MAPT rs17651549 17:45983912:C:T 17 45983912 C T 17:44061278 0.999745 27408 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Idiopathic pulmonary fibrosis (attempt to specificity) 0.000255 -0.3588 0.0981 Female infertility, cervigal, vaginal, other or unspecified origin 0.001517 0.303 0.096 MAPT rs143956882 17:45989975:C:T 17 45989975 C T 17:44067341 0.974189 830 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Polyhydramnios 0.003 2.7753 0.9351 MAPT rs2258689 17:45990016:T:C 17 45990016 T C 17:44067382 0.993694 75098 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disease of Bartholin gland 0.000793 -0.2613 0.0779 Other bursitis of hip 0.0001397 0.526 0.138 MAPT rs10445337 17:45990034:T:C 17 45990034 T C 17:44067400 0.999733 27403 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Idiopathic pulmonary fibrosis (attempt to specificity) 0.000254 -0.3588 0.0981 Female infertility, cervigal, vaginal, other or unspecified origin 0.001725 0.298 0.095 KANSL1 rs34579536 17:46031540:A:G 17 46031540 A G 17:44108906 0.999081 27407 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter MAPT-Related Spectrum Disorders;Syndromic intellectual disability;not provided Idiopathic pulmonary fibrosis (attempt to specificity) 0.000257 -0.3587 0.0981 Female infertility, cervigal, vaginal, other or unspecified origin 0.001549 0.302 0.095 KANSL1 rs7220988 17:46032108:G:A 17 46032108 G A 17:44109474 0.996562 0.433719 69208 90135 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma, unspecified (mode) 1.52e-07 0.0952 0.0181 Asthma, unspecified (mode) 2.163e-05 0.069 0.016 KANSL1 rs151099014 17:46039125:G:A 17 46039125 G A 17:44116491 0.940514 552 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin of ear and external auricular canal (other cancers excluded from controls) 0.000904 3.7787 1.1386 KANSL1 rs34043286 17:46039753:A:G 17 46039753 A G 17:44117119 0.999067 27406 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Syndromic intellectual disability;not provided Idiopathic pulmonary fibrosis (attempt to specificity) 0.00026 -0.3584 0.0981 Female infertility, cervigal, vaginal, other or unspecified origin 0.001542 0.302 0.095 KANSL1 rs149830411 17:46171276:G:A 17 46171276 G A 17:44248642 0.975233 174 pLoF dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Non-small cell lung cancer, squamous 0.000882 10.2139 3.0712 KANSL1 rs140181991 17:46171344:T:C 17 46171344 T C 17:44248710 0.967556 2481 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Koolen-de Vries syndrome;Syndromic intellectual disability Type 2 diabetes with peripheral circulatory complications 0.000331 1.1947 0.3328 Lumbosacral root disorders, not elsewhere classified 0.001402 63.525 19.888 KANSL1 rs142096969 17:46171417:G:T 17 46171417 G T 17:44248783 0.972302 960 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of white blood cells 0.000209 2.7803 0.7499 KANSL1 rs150345690 17:46171464:C:T 17 46171464 C T 17:44248830 0.821567 250 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other reactioin to severe stress, and adjustment disorders 0.000485 1.5132 0.4337 KANSL1 17:46171482:G:A 17 46171482 G A 17:44248848 0.987325 63362 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supplementary factors related to causes of morbidity and mortality classified elsewhere 0.000834 -0.2966 0.0888 0.0003442 -0.076 0.021 GOSR2 rs12944167 17:46923199:C:A 17 46923199 C A 17:45000565 0.993594 0.028719 276 10275 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Progressive myoclonic epilepsy;Seizures;not specified Other disorders of bone density and structure 7.89e-05 1.0906 0.2763 Ischemic heart diseases 0.000354 0.57 0.16 GOSR2 rs197922 17:46931204:G:A 17 46931204 G A 17:45008570 0.999922 0.374969 51742 86017 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertension 5.07e-06 0.0468 0.0103 Statin medication 1.222e-05 0.043 0.01 GOSR2 rs147434599 17:46940555:G:C 17 46940555 G C 17:45017921 0.972494 193 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Primary_lymphoid and hematopoietic malignant neoplasms (other cancers excluded from controls) 0.000284 2.9515 0.8131 CDC27 rs61749925 17:47154771:T:C 17 47154771 T C 17:45232137 0.936622 0.00100439 2 367 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lymphoid leukaemia (other cancers excluded from controls) 7.76e-05 5.5782 1.4116 ITGB3 rs5918 17:47283364:T:C 17 47283364 T C 17:45360730 0.999944 45157 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain in joint 0.000121 0.0852 0.0221 Vitamin deficiency 0.0003222 0.632 0.176 ITGB3 rs36080296 17:47283385:T:G 17 47283385 T G 17:45360751 0.992609 1281 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of lip, oral cavity and pharynx 0.000633 5.2494 1.5362 Diseases of the myoneural junction and muscle 1.781e-05 15.408 3.591 ITGB3 rs13306487 17:47292422:G:A 17 47292422 G A 17:45369788 0.996478 2993 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ca/Tu ALLOANTIGEN POLYMORPHISM Other and unspecified urticaria 0.000381 0.577 0.1624 Malnutrition 0.001788 52.136 16.692 PNPO rs17679445 17:47944699:G:A 17 47944699 G A 17:46022065 0.999755 24238 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pyridoxal 5'-phosphate-dependent epilepsy;Seizures;not specified UC patients in KELA-register ( KELA 208 prior to 1994, or ICD K51) 0.000252 0.2173 0.0594 Cervicobrachial syndrome 5.2e-05 0.613 0.152 HOXB13 rs138213197 17:48728343:C:T 17 48728343 C T 17:46805705 0.99205 0.00755332 28 2747 missense_variant unknown Pathogenic/Likely pathogenic, risk factor risk factor criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;Prostate cancer susceptibility;Prostate cancer, hereditary, 9;not provided Malignant neoplasm of prostate 2.93e-64 2.4873 0.147 Malignant neoplasm of prostate 2.531e-05 4.526 1.075 TTLL6 rs760003480 17:48804924:GCTTTCCAAAGTCGGGCA:G 17 48804924 GCTTTCCAAAGTCGGGCA G 17:46882286 0.997867 9321 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes with peripheral circulatory complications 0.000627 0.9181 0.2685 Autism 0.0003283 6.497 1.809 IGF2BP1 rs61751193 17:49040068:T:A 17 49040068 T A 17:47117430 0.992569 3678 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain in thoracic spine 0.000696 0.6163 0.1817 Other aneurysm 0.000489 13.94 3.998 B4GALNT2 rs61743617 17:49169594:C:T 17 49169594 C T 17:47246956 0.98196 4106 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Progressive vascular leukoencephalopathy 0.000347 1.9809 0.5537 Lactose intolerance 0.0007977 11.946 3.562 NGFR rs140781803 17:49506485:C:T 17 49506485 C T 17:47583847 0.992976 4897 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unsepecified deforming dorsopathies 0.00135 1.3212 0.4122 Other melanin hyperpigmentation 0.0001296 27.699 7.237 DLX4 rs151318731 17:49973193:G:C 17 49973193 G C 17:48050557 0.975963 1227 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other assisted single delivery 0.00074 4.9957 1.4805 Polycystic ovarian syndrome 0.001218 67.25 20.79 DLX3 rs147702169 17:49994917:C:A 17 49994917 C A 17:48072281 0.980781 625 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lichen simplex chronicus 0.000117 4.7732 1.2392 ITGA3 rs61730088 17:50071488:C:T 17 50071488 C T 17:48148852 0.908062 862 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyphaema and other vascular disorders of iris and ciliary body 0.000139 6.5436 1.7176 Other abnormalities of plasma proteins 0.0001224 478.58 124.591 SGCA rs28933693 17:50167653:C:T 17 50167653 C T 17:48245014 0.987376 667 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormalities of heart beat 0.000117 1.0451 0.2713 SGCA rs145697858 17:50167963:G:A 17 50167963 G A 17:48245324 0.990228 1810 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Acute appendicitis, no complications 0.00123 0.3416 0.1057 0.0002822 -1.503 0.414 SGCA rs145252144 17:50170324:A:G 17 50170324 A G 17:48247685 0.966985 511 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative ileocolitis 0.00169 4.1118 1.3093 SGCA rs1802614 17:50175832:GA:G 17 50175832 GA G 17:48253193 0.964873 2802 LC recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of the urinary system 0.000396 1.2283 0.3467 Injury of nerves and spinal cord at neck level 0.0009174 80.44 24.268 COL1A1 rs147266928 17:50185845:T:C 17 50185845 T C 17:48263206 0.993829 512 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Connective tissue disorder;Osteogenesis imperfecta type I;not provided;not specified Other keratitis 0.00127 2.0382 0.6323 Diabetes, insuline treatment (Kela reimbursement) 3.649e-05 1.552 0.376 COL1A1 rs147936946 17:50186008:C:T 17 50186008 C T 17:48263369 0.990202 1253 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Connective tissue disorder;Osteogenesis imperfecta type I;not provided;not specified Sudden idiopathic hearing loss 0.000457 1.3704 0.391 Ulcer of vagina/vulva 0.0003938 181.858 51.311 COL1A1 rs193922153 17:50189173:G:A 17 50189173 G A 17:48266534 0.914378 210 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Fistulae involving female genital tract 0.000313 14.4643 4.0128 COL1A1 rs72667032 17:50197978:G:C 17 50197978 G C 17:48275339 0.947114 862 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Connective tissue disorder;Osteogenesis imperfecta;Osteogenesis imperfecta type I;not provided;not specified Acute pancreatitis 0.000775 1.1154 0.3318 Malignant neoplasm of stomach 0.0001482 364.086 95.962 XYLT2 rs145954495 17:50353853:G:A 17 50353853 G A 17:48431214 0.966286 2117 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of breathing 0.000154 -0.2973 0.0786 Other and unspecified dermatitis 4.692e-05 11.201 2.752 XYLT2 rs6504649 17:50360095:C:G 17 50360095 C G 17:48437456 0.997085 0.405422 60758 88189 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Later onset COPD 1.34e-05 0.1384 0.0318 Chronic lower respiratory diseases 6.235e-05 0.04 0.01 CACNA1G rs201875227 17:50572702:G:A 17 50572702 G A 17:48650063 0.997474 1046 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary right heart disease 0.00126 2.9188 0.9051 Benign neoplasm: Choroid 0.001111 74.199 22.755 CACNA1G rs116920450 17:50575769:G:A 17 50575769 G A 17:48653130 0.981769 2190 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations and deformations of the musculoskeletal system 0.000163 1.2558 0.333 Patellar tendinitis 0.0007858 99.043 29.497 CACNA1G rs150972562 17:50600739:G:A 17 50600739 G A 17:48678100 0.980645 0.000593378 0 218 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonsuppurative otitis media 4.42e-05 2.5997 0.6365 CACNA1G rs200980376 17:50626683:C:T 17 50626683 C T 17:48704044 0.947632 98 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Gout, strict definition 0.000616 6.733 1.966 ABCC3 rs34926034 17:50655988:C:T 17 50655988 C T 17:48733349 0.995876 6652 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Connective and other soft tissue of head, face and neck 0.00162 1.2231 0.388 Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 0.0005891 1.975 0.575 ABCC3 rs34502058 17:50675684:G:A 17 50675684 G A 17:48753045 0.929349 665 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the respiratory system 0.000209 0.2966 0.08 Other acute viral hepatitis 0.0002764 261.392 71.881 WFIKKN2 rs55700534 17:50836029:G:A 17 50836029 G A 17:48913390 0.958819 1579 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormal findings of blood chemistry 0.000323 3.1864 0.8861 Pain in thoracic spine 0.0007881 12.787 3.809 NOG rs199566527 17:56594498:G:A 17 56594498 G A 17:54671859 0.877817 67 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Arterial embolism and thrombosis of lower extremity artery 0.00232 13.5447 4.4461 DGKE rs146866423 17:56834830:C:T 17 56834830 C T 17:54912191 0.913967 520 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other melanin hyperpigmentation 0.000591 6.3673 1.8532 AKAP1 rs73991770 17:57106116:G:A 17 57106116 G A 17:55183477 0.980357 784 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorder of thyroid, unspecified 0.000863 6.6337 1.991 AKAP1 rs35359994 17:57106431:G:A 17 57106431 G A 17:55183792 0.966446 38146 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degenerative macular diseases 0.000879 -0.2046 0.0615 Other vitreous opacities 0.0005889 0.91 0.265 AKAP1 rs34535433 17:57106452:A:G 17 57106452 A G 17:55183813 0.946611 37454 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degenerative macular diseases 0.000676 -0.2145 0.0631 Other vitreous opacities 0.0008217 0.928 0.277 AKAP1 rs140358364 17:57107026:C:T 17 57107026 C T 17:55184387 0.993988 2298 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck 0.000381 1.2844 0.3615 Haemmorrhoids and perianal venous thrombosis 0.0002598 15.094 4.133 EPX rs35617692 17:58195140:C:A 17 58195140 C A 17:56272501 0.991488 2175 pLoF recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified synovitis and tenosynovitis 0.000735 0.8194 0.2427 Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.001719 1.816 0.579 EPX rs34599426 17:58195171:G:A 17 58195171 G A 17:56272532 0.972208 832 pLoF recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unsepcified mononeuropathies, also in other diseases 0.000107 4.1345 1.0671 Problems related to medical facilities and other health care 0.0001794 11.402 3.043 EPX rs149610649 17:58197059:T:C 17 58197059 T C 17:56274420 0.980595 2783 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and ill-defined parts of digestive system 0.000111 0.7751 0.2006 Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.0004363 6.034 1.716 EPX rs150579989 17:58200323:C:T 17 58200323 C T 17:56277684 0.984292 271 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bronchitis 0.00119 0.6298 0.1943 EPX rs2302311 17:58203086:A:T 17 58203086 A T 17:56280447 0.981768 217 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of oesophagus in diseases classified elsewhere 0.00056 14.0306 4.0664 MKS1 rs1237002420 17:58206552:GGCATGCCATTGGGACAGCCTCAGGTTTCT:G 17 58206552 GGCATGCCATTGGGACAGCCTCAGGTTTCT G 17:56283913 0.967327 2994 LC recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Dislocation, sprain and strain of joints and ligaments of knee 0.000333 0.3021 0.0842 Benign neoplasm: Short bones of upper limb (other cancers excluded from controls) 0.000478 270.398 77.416 MKS1 rs201619500 17:58207104:C:T 17 58207104 C T 17:56284465 0.996816 397 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Suppurative and necrotic conditions of lower respiratory tract 0.000231 5.0847 1.381 MKS1 rs201845154 17:58214760:G:A 17 58214760 G A 17:56292121 0.94447 500 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other disorders of the genitourinary system 0.000228 2.296 0.6228 MKS1 rs200149256 17:58214765:C:T 17 58214765 C T 17:56292126 0.922555 293 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cystic kidney disease 0.000197 6.8252 1.8334 MKS1 rs142813109 17:58216714:G:C 17 58216714 G C 17:56294075 0.984665 810 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Eustachian salpingitis and obstruction 0.000146 2.1222 0.5588 MPO rs35897051 17:58270865:T:G 17 58270865 T G 17:56348226 0.973115 0.00278724 10 1014 pLoF both Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myeloperoxidase deficiency;not provided Burns and corrosions 7.65e-05 1.5316 0.3872 Noise effects on inner ear 0.0006452 107.661 31.555 MPO rs119468010 17:58272835:G:A 17 58272835 G A 17:56350196 0.984378 278 missense_variant both Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Bronchitis 0.000924 0.6411 0.1935 MPO rs149133270 17:58273656:C:T 17 58273656 C T 17:56351017 0.98085 699 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic conjunctivitis 0.000271 3.4656 0.9516 MPO rs28730837 17:58278036:G:A 17 58278036 G A 17:56355397 0.976033 0.0405811 682 14227 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Myeloperoxidase deficiency Childhood allergy (age < 16) 6.72e-05 0.347 0.0871 Other secondary gonarthrosis 0.0005362 2.687 0.776 MPO rs56378716 17:58279141:A:G 17 58279141 A G 17:56356502 0.998761 0.0317049 400 11248 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Myeloperoxidase deficiency Hypertension 5.08e-07 -0.1429 0.0284 Spondyloarthritis 0.001037 1.202 0.366 TSPOAP1 rs61741210 17:58309371:C:T 17 58309371 C T 17:56386732 0.99907 0.0226627 214 8112 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other necrotizing vasculopathies 4.62e-05 0.8018 0.1968 Palindromic rheumatism 0.0004353 15.945 4.533 TSPOAP1 rs61743284 17:58327685:C:T 17 58327685 C T 17:56405046 0.990397 0.0226518 228 8094 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other necrotizing vasculopathies 5.68e-05 0.7916 0.1966 Palindromic rheumatism 0.0004474 15.638 4.455 RNF43 rs2526374 17:58358524:G:T 17 58358524 G T 17:56435885 0.99758 80708 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gastrointestinal diseases 0.000797 0.025 0.0074 Polyhydramnios 0.0007636 0.285 0.085 RNF43 rs3744093 17:58415439:T:C 17 58415439 T C 17:56492800 0.996424 84760 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol abuse counselling and surveillance 0.000713 0.4874 0.144 Melanocytic naevi of eyelid, including canthus 0.0009897 0.502 0.153 TEX14 rs114562657 17:58561539:G:A 17 58561539 G A 17:56638900 0.993284 245 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of thyroid gland (other cancers excluded from controls) 0.000289 4.7839 1.3198 TEX14 rs141801212 17:58613423:G:A 17 58613423 G A 17:56690784 0.989004 933 pLoF recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pregnancy examination and test 0.000206 0.9149 0.2465 Problems related to medical facilities and other health care 0.0002037 11.075 2.982 TEX14 rs35551271 17:58616233:G:C 17 58616233 G C 17:56693594 0.997542 4164 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perichondritis of external ear 0.000365 2.1539 0.6044 Bicipital tendinitis 0.0005654 13.785 3.998 RAD51C rs61758784 17:58695161:G:A 17 58695161 G A 17:56772522 0.999709 0.000732196 0 269 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of thyroid gland (other cancers excluded from controls) 6.33e-05 5.251 1.3127 RAD51C rs147241704 17:58709943:G:A 17 58709943 G A 17:56787304 0.954199 306 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other congenital malformations of skin 0.000353 5.9798 1.6736 RAD51C rs28363317 17:58720767:A:G 17 58720767 A G 17:56798128 0.976303 413 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Puerperal sepsis 0.000766 3.9184 1.1645 TRIM37 rs143613788 17:59028432:T:C 17 59028432 T C 17:57105793 0.976253 647 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Burns and corrosions 0.000149 1.8723 0.4936 TRIM37 rs112762655 17:59031925:C:T 17 59031925 C T 17:57109286 0.967983 528 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mulibrey nanism syndrome;not provided Other viral diseases 0.000917 1.2724 0.3839 Hepatomegaly and splenomegaly, not elsewhere classified 0.0002432 280.13 76.344 PTRH2 rs76310651 17:59697918:C:T 17 59697918 C T 17:57775279 0.969588 1686 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other and specified injuries of hip and thigh 0.000902 3.172 0.9556 Sleep disorders (combined) 0.0001512 2.808 0.741 CA4 rs104894559 17:60150074:C:T 17 60150074 C T 17:58227435 0.883891 162 missense_variant dominant Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Sixth [abducent] nerve palsy 0.000812 10.4786 3.1291 CA4 rs117704637 17:60158402:G:A 17 60158402 G A 17:58235763 0.990879 0.0108904 50 3951 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis Pigmentosa, Dominant;not provided;not specified Abscess of Bartholin gland 3.14e-05 2.0156 0.4842 Other renal tubulo-interstitial diseases 0.000102 30.829 7.934 CA4 rs146141867 17:60159354:C:T 17 60159354 C T 17:58236715 0.918134 242 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other mental disorders due to brain damage and dysfunction and to physical disease 0.000441 4.0786 1.1607 PPM1D rs35491690 17:60663220:A:G 17 60663220 A G 17:58740581 0.984556 487 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter conjunctival haemorrhage 0.000665 3.375 0.9916 TBX4 rs117410176 17:61456506:G:A 17 61456506 G A 17:59533867 0.856028 385 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Examination and encounter for administrative purposes 0.000113 13.6879 3.5454 TBX4 rs3744448 17:61456507:G:C 17 61456507 G C 17:59533868 0.995493 0.243176 21744 67596 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal results of function studies 2.83e-05 0.2616 0.0625 Benign neoplasm: Anus and anal canal (other cancers excluded from controls) 5.46e-05 0.553 0.137 TBX4 rs148424252 17:61456594:C:T 17 61456594 C T 17:59533955 0.811024 345 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of nervous system 0.000683 4.3817 1.2901 TBX4 rs3744438 17:61480239:C:T 17 61480239 C T 17:59557600 0.965825 29623 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ischiopatellar dysplasia;not specified Behavioural syndromes associated with physiological disturbances and physical factors 0.000321 -0.156 0.0433 Idiopathic urticaria 0.0003317 2.043 0.569 BRIP1 rs753683450 17:61683605:A:AT 17 61683605 A AT 17:59760966 0.933748 328 pLoF dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Familial cancer of breast;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;not provided Metatarsalgia 0.00122 3.1708 0.9804 Left bundle-branch block 0.001925 45.98 14.825 BRIP1 rs4986764 17:61685986:A:G 17 61685986 A G 17:59763347 0.999745 90051 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Liver 0.0013 0.3447 0.1072 Other disorders of pigmentation 0.001155 -0.203 0.063 BRIP1 rs28997570 17:61808495:T:C 17 61808495 T C 17:59885856 0.981337 520 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter severe traumatic brain injury, does not include concussion 0.000248 1.7544 0.4787 BRIP1 rs4988347 17:61847144:A:G 17 61847144 A G 17:59924505 0.997486 2338 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial cancer of breast;Fanconi anemia, complementation group J;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;Neoplasm of ovary;not provided;not specified Postprocedural musculoskeletal disorders, not elsewhere classified 0.000414 1.3753 0.3895 Dislocation, sprain and strain of joint and ligaments of hip 5.842e-05 39.51 9.831 BRIP1 rs4988346 17:61847151:C:T 17 61847151 C T 17:59924512 0.979284 606 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.00014 0.624 0.1639 BRIP1 rs4988345 17:61847211:G:A 17 61847211 G A 17:59924572 0.968141 0.00313293 4 1147 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial cancer of breast;Fanconi anemia, complementation group J;Fanconi anemia, complementation group J;Hereditary cancer-predisposing syndrome;Neoplasm of ovary;not provided;not specified Other lesions of median nerve 8.31e-05 3.9951 1.0152 Nephrotic syndrome 0.0005267 145.551 41.984 MED13 rs151011641 17:61965027:G:A 17 61965027 G A 17:60042388 0.934041 681 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Premature separation of placenta [abruptio placentae] 0.000691 5.1597 1.5206 0.0002211 -1.702 0.461 MED13 rs140673828 17:61965208:T:C 17 61965208 T C 17:60042569 0.977943 3003 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Leiomyoma of uterus (other cancers excluded from controls) 0.000193 -0.3002 0.0805 Alcohol-induced chronic pancreatitis 8.428e-05 10.215 2.598 MED13 rs35998015 17:62063253:T:C 17 62063253 T C 17:60140614 0.982988 0.00209043 0 768 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperlipidaemia, other/unspecified 7.52e-05 1.153 0.2912 EFCAB3 rs61751980 17:62391965:C:T 17 62391965 C T 17:60469326 0.993669 13677 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified urticaria 0.000109 0.2908 0.0752 9.388e-05 5.782 1.48 TANC2 rs117690040 17:63200868:T:G 17 63200868 T G 17:61278229 0.995084 9163 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of Bartholin gland 0.000455 1.0051 0.2867 Duodenal ulcer 3.057e-05 3.743 0.898 ACE rs4298 17:63479839:C:T 17 63479839 C T 17:61557200 0.991668 0.0922104 3160 30717 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal dysplasia;not specified Hypertension 8.17e-07 -0.085 0.0172 Postprocedural disorders of digestive system, not elsewhere classified 0.0003291 1.391 0.387 ACE rs148193919 17:63481677:G:A 17 63481677 G A 17:61559038 0.9407 153 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myocardial infarction, strict 0.000211 1.8362 0.4956 ACE rs56394458 17:63481680:G:A 17 63481680 G A 17:61559041 0.96654 8506 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal dysplasia Noninflammatory disorders of female genital tract 0.000799 -0.1027 0.0306 Other and unspecified abdominal hernia 5.624e-05 8.612 2.138 ACE rs117647476 17:63488734:A:G 17 63488734 A G 17:61566095 0.98923 978 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perioral dermatitis 0.000742 4.9867 1.4781 ACE rs3730043 17:63491216:C:T 17 63491216 C T 17:61568577 0.9859 1219 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormal uterine and caginal bleeding 0.00083 0.6303 0.1886 Other/unspecified synovitis and tenosynovitis 2.732e-05 14.293 3.407 ACE rs4980 17:63497281:G:A 17 63497281 G A 17:61574642 0.931427 3502 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Pain in thoracic spine 0.000107 0.7415 0.1914 Type 2 diabetes with ophthalmic complications 0.0002477 4.861 1.326 TACO1 rs182355403 17:63607850:T:G 17 63607850 T G 17:61685210 0.996951 8151 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Other disorders starting during childhood or adolecense 0.00114 0.6902 0.2121 Open wound of shoulder and upper arm 0.001325 9.523 2.966 STRADA rs143559168 17:63723317:G:A 17 63723317 G A 17:61800677 0.82415 38 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other cataract 0.000821 4.4227 1.3219 CSH2 rs116889214 17:63872128:A:G 17 63872128 A G 17:61949488 0.960571 2337 stop_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Memory loss 0.00105 0.9096 0.2777 Open wound of abdomen, lower back and pelvis 0.002191 41.086 13.413 GH1 rs5388 17:63917810:C:T 17 63917810 C T 17:61995170 0.946465 1121 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of muscle and tendon at shoulder and upper arm level 0.00113 -0.6781 0.2082 GH1 rs2001345 17:63918770:T:C 17 63918770 T C 17:61996130 0.863533 1017 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pyogenic arthritis 0.000181 2.1107 0.5638 SCN4A rs2058194 17:63942988:T:C 17 63942988 T C 17:62020348 0.992186 0.508835 95152 91788 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other congenital malformations of ear 4.93e-06 -0.5542 0.1213 Other congenital malformations of ear 0.0004062 -0.349 0.099 SCN4A rs80338958 17:63945614:C:T 17 63945614 C T 17:62022974 0.883139 0.000677758 2 247 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Diseases of the myoneural junction and muscle 2.45e-05 4.5373 1.0754 SCN4A rs200947169 17:63949492:C:T 17 63949492 C T 17:62026852 0.993284 2865 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperkalemic Periodic Paralysis Type 1;not provided Maternal care for known or suspected disproportion 0.000402 1.3331 0.3767 Other disorders of kidney and ureter 0.001001 9.717 2.953 SCN4A rs41280102 17:63951560:C:G 17 63951560 C G 17:62028920 0.978229 1007 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not specified Other abnormalities of plasma proteins 0.000301 6.5068 1.8002 Chronic gastritis 0.0008859 9.245 2.781 SCN4A rs753182664 17:63951809:T:G 17 63951809 T G 17:62029169 0.960797 0.000906399 0 333 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of rib(s), sternum and thoracic spine 3.93e-05 2.1039 0.5117 SCN4A rs62070884 17:63957197:C:T 17 63957197 C T 17:62034557 0.98756 2877 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified Asthma (only as main-diagnosis) 0.000708 0.26 0.0768 Hirsutism 0.002097 45.377 14.751 SCN4A rs6504191 17:63963708:T:C 17 63963708 T C 17:62041068 0.970794 39868 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes with peripheral circulatory complications 0.000429 -0.2826 0.0802 Panic disorder 0.0003119 0.107 0.03 SCN4A rs185941768 17:63963816:C:T 17 63963816 C T 17:62041176 0.905435 317 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertension, essential 0.000406 0.6555 0.1854 SCN4A rs80338952 17:63968091:G:A 17 63968091 G A 17:62045451 0.993203 7317 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital Myasthenic Syndrome, Recessive;Hyperkalemic Periodic Paralysis;Hyperkalemic Periodic Paralysis Type 1;Hypokalemic periodic paralysis;Paramyotonia congenita of von Eulenburg;Potassium aggravated myotonia;not provided;not specified Ulcerative colitis, NAS 0.0011 -0.4152 0.1272 Acute renal failure 0.0002351 3.178 0.864 SCN4A rs41280110 17:63972389:C:T 17 63972389 C T 17:62049749 0.970609 845 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lymphoid leukaemia 0.00252 2.3613 0.7816 SCN4A rs78592515 17:63972790:G:T 17 63972790 G T 17:62050150 0.877498 151 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cauda equina syndrome 0.000768 24.1867 7.1894 POLG2 rs17850455 17:64480334:C:G 17 64480334 C G 17:62476451 0.978802 5579 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;not provided;not specified Malignant neoplasm of kidney, except renal pelvis 0.00015 0.8392 0.2213 Burn and corrosion of head and neck 0.0003643 16.986 4.765 POLG2 rs1427463 17:64496464:C:T 17 64496464 C T 17:62492582 0.99767 0.115153 4864 37442 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic single thyroid nodule 5.38e-05 0.3082 0.0763 Acute posthaemorrhagic anaemia 0.0005766 0.916 0.266 RGS9 rs200798153 17:65160536:A:G 17 65160536 A G 17:63156654 0.972114 1074 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Type 2 diabetes, wide definition 0.000408 0.47 0.133 Cerebral cysts 1.597e-05 62.996 14.6 RGS9 rs201997888 17:65160537:C:G 17 65160537 C G 17:63156655 0.961696 0.00264843 8 965 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes, wide definition 7.06e-05 0.5554 0.1397 Cerebral cysts 1.598e-05 62.991 14.599 RGS9 rs12452285 17:65193569:C:T 17 65193569 C T 17:63189687 0.99905 3109 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other or ill-defined heart diseases 0.00227 1.015 0.3326 Malignant neoplasm of prostate 3e-05 4.753 1.139 RGS9 rs34797451 17:65225096:G:A 17 65225096 G A 17:63221214 0.945634 3052 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Inflammation of lacrimal passages (acute and unspecified) 0.00138 2.2455 0.7019 Otitis media, unspecified 0.0008182 11.154 3.333 AXIN2 rs145007501 17:65534045:C:T 17 65534045 C T 17:63530163 0.963257 422 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Persistent delusional disorders 0.00118 2.3449 0.723 AXIN2 rs138287857 17:65536410:G:A 17 65536410 G A 17:63532528 0.921489 615 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of optic nerve, not elsewhere classified 0.000114 7.611 1.9729 AXIN2 rs200201811 17:65536894:G:A 17 65536894 G A 17:63533012 0.913117 0.000832907 0 306 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertensive Renal Disease 9.75e-05 7.8187 2.0064 AXIN2 rs200883019 17:65537504:G:A 17 65537504 G A 17:63533622 0.991748 4023 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oligodontia-colorectal cancer syndrome;not specified Haemolytic anaemias 0.000153 1.6781 0.4432 Unspecified mental disorder 0.001063 2.939 0.898 AXIN2 rs115931022 17:65537801:T:C 17 65537801 T C 17:63533919 0.914053 0.00760776 24 2771 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oligodontia-colorectal cancer syndrome;not provided;not specified Diseases of middle ear and mastoid 8.41e-05 0.3559 0.0905 Other and unspecified nonorganic psychotic disorders 0.0001993 12.858 3.456 AXIN2 rs2240308 17:65558473:G:A 17 65558473 G A 17:63554591 0.99104 91444 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lymphoid leukaemia (other cancers excluded from controls) 0.00167 0.2073 0.066 Preterm labour and delivery 0.0003227 0.076 0.021 APOH rs4581 17:66214639:C:A 17 66214639 C A 17:64210757 0.999838 70230 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Other functional intestinal disroders 0.00052 0.0766 0.0221 Cardiomyopathy, Hypertrophic obstructive 0.0001433 0.51 0.134 BPTF rs139231512 17:67911528:T:C 17 67911528 T C 17:65907644 0.984771 735 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myopia 0.00123 1.6198 0.5011 Diseases of the musculoskeletal system and connective tissue 0.0002732 -1.496 0.411 BPTF rs79076582 17:67911798:A:G 17 67911798 A G 17:65907914 0.985522 0.00109421 0 402 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of eye, ear, face and neck 6.82e-05 3.7917 0.9521 AMZ2 rs374606347 17:68256818:TGGTGA:T 17 68256818 TGGTGA T 17:66252959 0.9915 3870 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abdominal and pelvic pain 0.00012 0.1549 0.0403 0.000134 23.07 6.041 ARSG rs61999318 17:68420363:T:C 17 68420363 T C 17:66416504 0.991443 519 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertrophic scar 0.000781 3.2394 0.9642 FAM20A rs2907373 17:68537514:A:G 17 68537514 A G 17:66533655 0.999025 0.685929 172956 79046 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute renal failure 9.07e-05 -0.1556 0.0397 Malignant neoplasm of skin 0.000113 -0.046 0.012 FAM20A rs2302234 17:68542098:G:T 17 68542098 G T 17:66538239 0.998909 80146 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obesity, other/unspecified 0.00042 -0.0956 0.0271 All influenza 0.0009226 0.103 0.031 FAM20A rs201229220 17:68600659:C:A 17 68600659 C A 17:66596800 0.988584 2104 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Falls/tendenct to fall 0.000558 1.0348 0.2998 Other meningitis 0.001294 68.822 21.391 ABCA10 rs3842375 17:69149049:TGA:T 17 69149049 TGA T 17:67145190 0.997418 28275 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Female infertility, associated with anovulation 0.00147 0.2972 0.0935 0.001539 -0.16 0.051 ABCA5 rs145300105 17:69270687:T:C 17 69270687 T C 17:67266828 0.991058 718 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Outcome of delivery 0.000597 0.8558 0.2493 Fourth [trochlear] nerve palsy 0.0001463 454.763 119.761 SLC39A11 rs34970573 17:72947869:C:T 17 72947869 C T 17:70944008 0.934624 1765 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified urinary incontinence 0.000216 1.3518 0.3654 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.001012 93.901 28.567 COG1 rs142719529 17:73193127:G:C 17 73193127 G C 17:71189266 0.969363 5244 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital disorder of glycosylation Other acquired deformities of musculoskeletal system and connective tissue 0.000736 0.9258 0.2742 Myositis 0.0003047 18.459 5.111 COG1 rs1052706 17:73196524:G:A 17 73196524 G A 17:71192663 0.996931 0.469365 80772 91667 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter STROKE 1.21e-06 -0.0693 0.0143 Benign neoplasm: other/unspecified salivary gland (other cancers excluded from controls) 0.0009172 0.233 0.07 COG1 rs117208167 17:73197386:G:C 17 73197386 G C 17:71193525 0.950424 2655 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Unspecified abortion 0.00028 1.3649 0.3757 Spinal osteochondrosis 0.001347 61.932 19.318 COG1 rs117344829 17:73200000:C:T 17 73200000 C T 17:71196139 0.984976 2822 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other and unspecified anaemias 0.000199 0.4789 0.1287 Personality and behavioural disorders due to brain disease, damage and dysfunction 0.001243 69.392 21.492 COG1 rs1026128 17:73200670:A:G 17 73200670 A G 17:71196809 0.999923 0.474822 82620 91824 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter STROKE 4.92e-07 -0.0717 0.0143 Benign neoplasm: other/unspecified salivary gland (other cancers excluded from controls) 0.0005584 0.241 0.07 COG1 rs62621249 17:73201184:G:C 17 73201184 G C 17:71197323 0.997253 22318 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital disorder of glycosylation;not specified Flat foot [pes planus] (acquired) 0.000719 0.3236 0.0957 0.0005477 -0.17 0.049 COG1 rs141750466 17:73201539:G:A 17 73201539 G A 17:71197678 0.969299 6902 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Burn and corrosion confined to eye and adnexa 0.000655 1.1134 0.3267 Inguinal hernia 9.08e-05 1.027 0.262 COG1 rs147588256 17:73208408:C:G 17 73208408 C G 17:71204547 0.978363 270 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contact with and exposure to communicable diseases 0.000841 3.8129 1.1419 DNAI2 rs144786630 17:74289724:A:C 17 74289724 A C 17:72285863 0.992989 3835 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Other disorders of skin and subcutaneous tissue, not elsewhere classified 0.00149 0.5549 0.1746 Type 2 diabetes with neurological complications 0.0001168 8.494 2.205 DNAI2 rs28725418 17:74310152:G:A 17 74310152 G A 17:72306291 0.996572 23665 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Protozoal diseases 0.000132 0.7437 0.1945 Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 0.0003215 0.784 0.218 DNAI2 rs117932646 17:74312168:G:A 17 74312168 G A 17:72308307 0.99757 4523 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia Nontoxic multinodular goitre 0.00246 0.391 0.1291 Fistulae involving female genital tract 0.001998 46.88 15.169 DNAI2 rs1979370 17:74312180:G:A 17 74312180 G A 17:72308319 0.99604 36015 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Psoriasis (vulgaris), strict definition 0.000876 -0.484 0.1454 Psoriasis (vulgaris), strict definition 0.000759 -0.267 0.079 KIF19 rs532366391 17:74344293:AG:A 17 74344293 AG A 17:72340432 0.987162 0.0107516 26 3924 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammation of lacrimal passages (chronic) 5.08e-07 3.2801 0.653 Injuries to the abdomen, lower back, lumbar spine and pelvis 0.0001567 4.747 1.256 KIF19 rs34016821 17:74344842:G:A 17 74344842 G A 17:72340981 0.958214 674 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intestinal infectious diseases 0.00202 -0.417 0.1351 GPR142 rs569465136 17:74370524:GC:G 17 74370524 GC G 17:72366663 0.929439 210 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperaldosteronism 0.00128 8.9724 2.7864 GPR142 rs142966948 17:74372328:C:T 17 74372328 C T 17:72368467 0.921503 471 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alogoneurodystrophy 0.000121 5.8867 1.5318 SLC9A3R1 rs35910969 17:74749174:C:G 17 74749174 C G 17:72745313 0.9228 0.00961109 54 3477 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Nephrolithiasis/osteoporosis, hypophosphatemic, 2 Hepatic failure, not elsewhere classified 4.89e-05 1.9459 0.4792 Hepatic failure, not elsewhere classified 0.0003018 18.05 4.995 SLC9A3R1 rs119486097 17:74763436:G:A 17 74763436 G A 17:72759575 0.992529 6745 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypophosphatemia;Nephrolithiasis;Nephrolithiasis/osteoporosis, hypophosphatemic, 2;not specified Examination and observation for other reasons 0.00126 -0.185 0.0573 Other neurotic disorders 0.001549 4.015 1.268 TMEM104 rs150038829 17:74795600:C:G 17 74795600 C G 17:72791739 0.987985 6781 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ptosis of eyelid 0.00017 0.6231 0.1657 Obsessive-compulsive disorder 2.907e-05 4.665 1.116 GRIN2C rs78349823 17:74854900:G:A 17 74854900 G A 17:72851039 0.976157 0.00387329 16 1407 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enlarged lymph nodes 1.65e-05 1.359 0.3155 Other meningitis 0.001428 61.782 19.373 GRIN2C rs80016270 17:74855071:C:T 17 74855071 C T 17:72851210 0.973446 1225 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Smoking 0.000608 1.441 0.4204 FDXR rs35769464 17:74862879:T:C 17 74862879 T C 17:72859001 0.91554 0.00220748 0 811 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other orthopaedic follow-up care 2.24e-05 3.0378 0.7165 FDXR rs201450571 17:74864278:G:A 17 74864278 G A 17:72860400 0.992496 2976 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other melanin hyperpigmentation 0.000215 2.5377 0.6858 Guillain-Barre syndrome 0.001679 55.244 17.584 OTOP2 rs141455683 17:74930587:G:A 17 74930587 G A 17:72926682 0.944033 307 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Foreign body in alimentary tract 0.000692 4.6945 1.3836 HID1 rs147489114 17:74962271:G:A 17 74962271 G A 17:72958366 0.853892 401 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic hypoglycemia 0.000941 1.5429 0.4664 MRPS7 rs8075276 17:75261905:C:T 17 75261905 C T 17:73257986 0.997291 0.893954 293630 34798 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy 7.04e-05 0.2024 0.0509 Cardiomyopathy 4.2e-05 0.113 0.028 MRPS7 rs148590649 17:75261947:C:T 17 75261947 C T 17:73258028 0.952519 420 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of other body structures 0.000274 3.0845 0.8477 MRPS7 rs200570062 17:75262489:C:T 17 75262489 C T 17:73258570 0.956793 455 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sixth [abducent] nerve palsy 0.000478 5.5588 1.5914 TSEN54 rs8079373 17:75516803:T:G 17 75516803 T G 17:73512884 0.99715 37814 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of ankle and foot 0.00066 -0.2292 0.0673 Persons encountering health services in other circumstances 6.926e-05 0.277 0.07 TSEN54 rs762308156 17:75517101:CGCCCTCCCT:C 17 75517101 CGCCCTCCCT C 17:73513182 0.997163 37860 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of psychological developtment 0.000613 -0.213 0.0622 Persons encountering health services in other circumstances 7.707e-05 0.275 0.07 TSEN54 rs6501818 17:75517208:C:G 17 75517208 C G 17:73513289 0.995893 37782 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of ankle and foot 0.000731 -0.2277 0.0674 Persons encountering health services in other circumstances 5.989e-05 0.281 0.07 TSEN54 rs11559205 17:75517596:A:C 17 75517596 A C 17:73513677 0.998609 25808 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pontoneocerebellar hypoplasia;not specified Monoplegia 0.000562 0.8204 0.2378 Occlusion and stenosis of arteries, not leading to stroke 0.001277 2.147 0.666 TSEN54 rs79508780 17:75521455:G:A 17 75521455 G A 17:73517536 0.973111 29971 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pontoneocerebellar hypoplasia;not provided;not specified Hypertensive heart and/or renal disease 0.00177 0.1431 0.0458 Vitamin D deficiency 0.0005131 2.337 0.673 TSEN54 rs9911502 17:75522122:G:C 17 75522122 G C 17:73518203 0.997182 78102 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of thorax 0.000224 -0.4413 0.1196 Trochanteric bursitis 3.703e-05 -0.119 0.029 TSEN54 rs200434678 17:75522195:G:A 17 75522195 G A 17:73518276 0.949467 0.000498111 0 183 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin, unspecified 3.61e-05 10.8837 2.6345 TSEN54 rs77247739 17:75522247:A:C 17 75522247 A C 17:73518328 0.99724 29622 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pontoneocerebellar hypoplasia;not provided;not specified Deviated nasal septum 0.000385 0.1299 0.0366 Other orthopaedic follow-up care 0.000254 0.894 0.244 TSEN54 rs8064529 17:75523332:C:T 17 75523332 C T 17:73519413 0.997637 78077 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of thorax 0.000221 -0.4415 0.1195 Trochanteric bursitis 3.505e-05 -0.12 0.029 TSEN54 rs150169668 17:75523677:C:G 17 75523677 C G 17:73519758 0.97241 7873 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Type 2 diabetes with coma 0.000968 0.3999 0.1212 Rheumatic fever incl heart disease 0.0005993 5.8 1.69 TSEN54 rs62088470 17:75524278:C:G 17 75524278 C G 17:73520359 0.998627 25799 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pontoneocerebellar hypoplasia;not specified Diabetes, insuline treatment (Kela reimbursement) 0.000505 -0.0738 0.0212 Occlusion and stenosis of arteries, not leading to stroke 0.001277 2.147 0.666 TSEN54 rs144662042 17:75524299:C:T 17 75524299 C T 17:73520380 0.993413 12652 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pontoneocerebellar hypoplasia;not provided;not specified Low back pain 0.00141 0.1321 0.0414 Ulcer of oesophagus 0.002062 1.87 0.607 LLGL2 rs148020757 17:75571720:G:A 17 75571720 G A 17:73567801 0.982793 2109 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitamin D deficiency 0.00184 3.1684 1.0172 Evidence of alcohol involvement determined by blood alcohol level 0.0009954 80.848 24.56 RECQL5 rs200535477 17:75627670:C:T 17 75627670 C T 17:73623750 0.91552 3710 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Venous complications and haemorrhoids in pregnancy 0.000107 2.7824 0.718 Hemiplegia 0.0003136 19.155 5.315 RECQL5 rs140565320 17:75628273:T:G 17 75628273 T G 17:73624353 0.993085 1651 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of lateral popliteal nerve 0.000316 2.0239 0.5619 Pustulosis palmaris et plantaris 0.0005279 134.688 38.858 ITGB4 rs8079267 17:75732219:G:T 17 75732219 G T 17:73728300 0.978489 276 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Colon, unspecified (other cancers excluded from controls) 0.000789 2.1562 0.6424 ITGB4 rs147480547 17:75740047:G:A 17 75740047 G A 17:73736128 0.92094 106 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of thorax 0.00164 16.9165 5.3735 ITGB4 rs145976111 17:75742728:C:T 17 75742728 C T 17:73738809 0.910813 436 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Contraceptive management 0.000672 0.7562 0.2224 ITGB4 rs75129664 17:75750803:G:A 17 75750803 G A 17:73746884 0.992646 3199 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidermolysis bullosa junctionalis with pyloric atresia All influenza 0.00017 0.5566 0.1481 Occupational exposure to risk-factors 0.0001002 30.041 7.722 ITGB4 rs871443 17:75757422:T:C 17 75757422 T C 17:73753503 0.988236 56219 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-small cell lung cancer, adenocarcinoma (other cancers excluded from controls) 0.00112 0.2761 0.0848 Postpartum care and examination 0.001715 -0.074 0.024 GALK1 rs201972845 17:75758459:G:A 17 75758459 G A 17:73754540 0.960436 0.0162199 102 5857 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other nutritional anaemias 2.21e-05 2.8218 0.6651 Acute bronchiolitis 0.0008952 10.716 3.226 GALK1 rs376790302 17:75762731:G:A 17 75762731 G A 17:73758812 0.987926 159 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Invasive ventilation 0.000319 8.5195 2.3671 UNC13D rs9916685 17:75827639:G:A 17 75827639 G A 17:73823720 0.995449 13033 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial hemophagocytic lymphohistiocytosis Superficial injury of thorax 0.000712 0.319 0.0942 3.044e-05 1.677 0.402 UNC13D rs372034111 17:75828860:G:A 17 75828860 G A 17:73824941 0.954444 640 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acohol-induced acute pancreatitis 0.000378 4.5903 1.2912 UNC13D rs138760432 17:75828955:C:G 17 75828955 C G 17:73825036 0.870814 96 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Simple and mucoplurulent chronic bronchitis 0.000484 12.6126 3.6146 UNC13D rs118049905 17:75830086:G:A 17 75830086 G A 17:73826167 0.976752 1941 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hemophagocytic lymphohistiocytosis;Hemophagocytic lymphohistiocytosis, familial, 3;not specified Siatica+with lumbago 0.000754 0.4343 0.1289 Cardiovascular diseases (excluding rheumatic etc) 0.002765 -1.201 0.401 UNC13D rs35037984 17:75830410:G:A 17 75830410 G A 17:73826491 0.988929 7421 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hemophagocytic lymphohistiocytosis;Hemophagocytic lymphohistiocytosis, familial, 3;not specified Other specified/unspecified disorders of synovium and tendon +Other specified/unspecified bursopathies 0.00086 0.72 0.216 Chronic suppurative otitis media 0.0005423 5.989 1.731 UNC13D rs1135688 17:75831124:T:C 17 75831124 T C 17:73827205 0.997997 0.234455 20246 65890 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 5.2e-06 -0.0523 0.0115 Angina pectoris 0.0001317 -0.09 0.024 UNC13D rs144968313 17:75831254:T:G 17 75831254 T G 17:73827335 0.873456 98 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Simple and mucoplurulent chronic bronchitis 0.000487 12.5867 3.6089 UNC13D rs113861754 17:75834107:C:T 17 75834107 C T 17:73830188 0.978183 0.00337246 0 1239 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertension 8.71e-05 -0.34 0.0866 UNC13D rs144852879 17:75835485:G:A 17 75835485 G A 17:73831566 0.95835 201 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neurological diseases 0.00373 -0.4621 0.1594 UNC13D rs772459675 17:75843049:G:GCTC 17 75843049 G GCTC 17:73839130 0.923138 494 inframe_indel unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter ILD differential diagnosis 0.000165 -0.3679 0.0977 Medical observation and evaluation for suspected diseases and conditions 0 3.217 0 UNC13D rs9904366 17:75843245:C:T 17 75843245 C T 17:73839326 0.963643 649 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute and subacute iridocyclitis 3e-04 1.4885 0.4117 ACOX1 rs2608880 17:75942876:C:T 17 75942876 C T 17:73938957 0.99658 0.245808 22508 67799 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 3.25e-05 -0.0469 0.0113 Coronary revascularization (ANGIO or CABG) 4.705e-05 -0.111 0.027 ACOX1 rs1135640 17:75953459:G:C 17 75953459 G C 17:73949540 0.995687 0.754064 209206 67828 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 2.99e-05 0.0472 0.0113 Hernia of abodminal wall, postoperative 0.0001252 -0.094 0.024 GALR2 rs61745847 17:76077013:G:T 17 76077013 G T 17:74073094 0.982111 2739 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Calculus of kidney and ureter 0.000609 0.4778 0.1394 Disorders of vestibular function (Vertigo) 0.0003581 6.102 1.71 RNF157 rs61751845 17:76158415:G:A 17 76158415 G A 17:74154496 0.978176 3206 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neurological diseases 0.000568 0.1386 0.0402 Unspesified nephritic syndrome 0.001063 9.288 2.837 SPHK1 rs201987985 17:76385481:C:A 17 76385481 C A 17:74381562 0.959648 0.0003974 0 146 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Migraine without aura 7.65e-05 3.7115 0.9384 SPHK1 rs887930285 17:76387026:CG:C 17 76387026 CG C 17:74383107 0.977984 710 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to sedatives or hypnotics 0.00128 2.0833 0.647 SPHK1 rs56341546 17:76387567:C:T 17 76387567 C T 17:74383648 0.989931 3376 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast 0.00117 -0.706 0.2174 Mouth breathing 0.001232 2.762 0.855 RHBDF2 rs73998915 17:76473697:T:C 17 76473697 T C 17:74469779 0.99318 8466 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Howel-Evans syndrome Open wound of lower leg 0.00154 0.4049 0.1278 0.001013 -0.374 0.114 RHBDF2 rs11553545 17:76474112:C:A 17 76474112 C A 17:74470194 0.965802 0.00711237 16 2597 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Howel-Evans syndrome Monoarthritis, not elsewhere classified 2.32e-05 1.9276 0.4555 Unspecified maternal hypertension 0.0002482 225.138 61.444 RHBDF2 rs143503813 17:76474441:G:A 17 76474441 G A 17:74470523 0.99873 5458 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Howel-Evans syndrome Bacterial pneumonia, not elsewhere classified 0.000127 0.3042 0.0794 0.001068 9.394 2.871 RHBDF2 rs146134173 17:76476941:C:T 17 76476941 C T 17:74473023 0.944518 246 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Divergent concomitant strabismus 0.0015 3.0926 0.9739 RHBDF2 rs3744045 17:76478942:G:A 17 76478942 G A 17:74475024 0.981693 0.912417 305950 29261 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Entropion and trichiasis of eyelid 9.88e-05 0.3646 0.0937 Entropion and trichiasis of eyelid 0.0001505 0.19 0.05 RHBDF2 rs3809694 17:76479893:C:A 17 76479893 C A 17:74475975 0.992509 91415 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of pancreas 0.000911 -0.2082 0.0628 Malignant neoplasm of pancreas 0.0001275 -0.203 0.053 METTL23 rs138247613 17:76733609:G:A 17 76733609 G A 17:74729691 0.93746 374 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contusion of other and unspecified parts of foot 0.000275 5.6284 1.5473 METTL23 rs147321492 17:76733682:T:C 17 76733682 T C 17:74729764 0.988345 0.0205069 160 7374 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Disorders of psychological developtment 4.56e-06 0.6571 0.1433 Disorder of external ear, unspecified 0.001842 8.106 2.603 SEC14L1 rs143320926 17:77209465:G:T 17 77209465 G T 17:75205547 0.960083 1720 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of lens 0.000315 -0.3176 0.0882 Alzheimer's disease (Early onset) (more controls excluded) 0.001139 27.494 8.45 Sep-09 rs34587622 17:77402416:C:T 17 77402416 C T 17:75398498 0.983124 24092 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary Neuralgic Amyotrophy (HNA);not specified Malignant neoplasm of larynx 0.001 -0.7836 0.2382 Mental and behavioural disorders due to cannabinoids 0.0001383 1.631 0.428 Sep-09 rs199861986 17:77402520:G:A 17 77402520 G A 17:75398602 0.913622 155 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other acquired deformities of musculoskeletal system and connective tissue 0.000696 8.1393 2.4001 Sep-09 rs2164449 17:77405108:G:A 17 77405108 G A 17:75401190 0.997247 86321 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Other arrhytmias 0.000217 -0.0597 0.0161 Acute pancreatitis 0.001018 0.101 0.031 Sep-09 rs199687508 17:77498620:G:A 17 77498620 G A 17:75494702 0.974401 359 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Anus and anal canal (other cancers excluded from controls) 0.000168 8.9741 2.3848 Psychiatric diseases 0 2.561 0 Sep-09 rs2627223 17:77498623:A:G 17 77498623 A G 17:75494705 0.967599 25947 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Enthesopathies of lower limb, excluding foot 0.000233 0.1915 0.052 Enthesopathies of lower limb, excluding foot 0.0002254 0.102 0.028 TMC6 rs199724291 17:78120696:C:T 17 78120696 C T 17:76116777 0.969396 483 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypertrophic scar 0.000164 4.0263 1.0684 TMC6 rs146998467 17:78120776:C:T 17 78120776 C T 17:76116857 0.969392 5561 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of thorax 0.000835 1.881 0.563 Isolated proteinuria 0.0006817 23.062 6.789 TMC6 rs75400929 17:78121043:G:A 17 78121043 G A 17:76117124 0.991895 0.0371569 510 13141 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter EPIDERMODYSPLASIA VERRUCIFORMIS Thyrotoxicosis with toxic multinodular goitre 4.94e-05 0.651 0.1604 AION (anterior ischemic optic neuropathy) 0.0007482 5.41 1.605 TMC6 rs555453763 17:78121702:C:G 17 78121702 C G 17:76117783 0.894594 517 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at ankle and foot level 0.000229 6.7872 1.842 Benign neoplasm: Connective and other soft tissue of head, face and neck 0.000579 136.549 39.68 TMC6 rs12449858 17:78125237:G:A 17 78125237 G A 17:76121318 0.989519 0.108142 4482 35248 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Herpesviral keratitis and keratoconjunctivitis 6.2e-05 0.4368 0.1091 Deviated nasal septum 0.0008433 -0.229 0.068 TMC6 rs2748427 17:78125783:A:G 17 78125783 A G 17:76121864 0.981292 59302 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropod-borne viral fevers and viral haemorrhagic fevers 0.000126 0.2042 0.0533 Spondylopathies 0.0001997 -0.091 0.024 TMC8 rs117156381 17:78133538:C:T 17 78133538 C T 17:76129619 0.990051 3020 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter EPIDERMODYSPLASIA VERRUCIFORMIS Other arterial embolism and thrombosis 0.000142 2.2593 0.594 Postprocedural musculoskeletal disorders, not elsewhere classified 0.0006898 12.622 3.719 TMC8 rs7208422 17:78134494:A:T 17 78134494 A T 17:76130575 0.991366 0.483429 86054 91552 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary eosinophilia, not elsewhere classified 6.04e-05 0.4644 0.1158 Pulmonary eosinophilia, not elsewhere classified 5.63e-05 0.399 0.099 TMC8 rs112802399 17:78134906:G:T 17 78134906 G T 17:76130987 0.985728 0.0133047 94 4794 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter EPIDERMODYSPLASIA VERRUCIFORMIS Puerperal sepsis 6.48e-05 1.126 0.2819 Cerebral aneurysm, nonruptured 0.0001606 8.703 2.306 TMC8 rs151076155 17:78138019:G:A 17 78138019 G A 17:76134100 0.981743 437 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mental and behavioural disorders due to cannabinoids 0.000245 6.3522 1.732 TMC8 rs139756868 17:78138117:G:A 17 78138117 G A 17:76134198 0.97576 511 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of larynx (other cancers excluded from controls) 0.00153 8.5067 2.6839 TMC8 rs11651675 17:78138156:G:A 17 78138156 G A 17:76134237 0.995969 8568 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter EPIDERMODYSPLASIA VERRUCIFORMIS Mental and behavioural disorders due to opioids 0.00071 0.7953 0.2349 Mycoses 0.001115 1.487 0.456 TMC8 rs144120533 17:78138386:C:T 17 78138386 C T 17:76134467 0.985934 660 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joint and ligaments of hip 0.000388 4.5874 1.2928 TMC8 rs139972217 17:78140913:C:T 17 78140913 C T 17:76136994 0.993402 2997 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter EPIDERMODYSPLASIA VERRUCIFORMIS Paralytic strabismus 0.0012 1.0235 0.316 Otitis externa 0.0001192 8.957 2.328 DNAH17 rs35973257 17:78426518:C:T 17 78426518 C T 17:76422599 0.977255 0.0238549 240 8524 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Vascular disorders of the intestines 6.74e-05 0.8749 0.2195 Schizoaffective disorder 0.00036 3.443 0.965 DNAH17 rs61742072 17:78437817:G:A 17 78437817 G A 17:76433899 0.995557 37360 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of ocular muscles, binocular movement, accommodation and refraction 0.000228 0.1089 0.0295 Other noninfective gastroenteritis and colitis 0.0001409 0.328 0.086 DNAH17 rs691652 17:78495045:T:C 17 78495045 T C 17:76491127 0.993979 0.815623 244536 55114 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of lumbar spine and pelvis 7.66e-05 -0.1569 0.0397 Fracture of lumbar spine and pelvis 5.396e-05 -0.093 0.023 DNAH17 rs2028734 17:78500410:A:G 17 78500410 A G 17:76496492 0.995476 0.813625 243370 55546 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of lumbar spine and pelvis 7.9e-05 -0.1557 0.0394 Fracture of lumbar spine and pelvis 6.159e-05 -0.092 0.023 DNAH17 rs690844 17:78501838:C:A 17 78501838 C A 17:76497920 0.992948 80448 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast 0.000404 -0.156 0.0441 Other disorders of breast 0.0001696 -0.11 0.029 DNAH17 rs930571 17:78502610:C:T 17 78502610 C T 17:76498692 0.998375 0.815315 244358 55179 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of lumbar spine and pelvis 9.96e-05 -0.1538 0.0395 Fracture of lumbar spine and pelvis 0.0001035 -0.089 0.023 DNAH17 rs76449350 17:78506725:C:T 17 78506725 C T 17:76502807 0.959207 1972 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Other and unspecified parts of mouth (other cancers excluded from controls) 0.000122 2.2835 0.5943 Pain (limb, back, neck, head abdominally) 0.00025 1.753 0.479 DNAH17 rs62073553 17:78507478:C:A 17 78507478 C A 17:76503560 0.998804 39563 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to housing and economic circumstances 0.000317 0.6306 0.1751 Other arrhytmias 0.0007321 0.151 0.045 DNAH17 rs9896398 17:78507511:T:C 17 78507511 T C 17:76503593 0.999425 89373 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of pericardium 0.00148 0.2612 0.0822 Dislocation, sprain and strain of joints and ligaments at neck level 0.000786 -0.089 0.026 DNAH17 rs61744544 17:78526703:C:T 17 78526703 C T 17:76522785 0.998366 0.161064 9546 49627 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Essential (haemorrhagic) thrombocythaemia 6.77e-05 -0.4667 0.1171 Trigger finger 8.833e-05 0.335 0.085 DNAH17 rs61741523 17:78529677:G:C 17 78529677 G C 17:76525759 0.993978 37016 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain in thoracic spine 0.000784 0.1876 0.0559 Pulmonary oedema 0.0007343 1.498 0.444 DNAH17 rs11651537 17:78532708:A:G 17 78532708 A G 17:76528790 0.99585 91627 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dysplasia of cervi uteri 0.000332 0.0919 0.0256 AV-block 0.0005377 0.099 0.028 USP36 rs140328430 17:78807608:G:A 17 78807608 G A 17:76803690 0.98853 4363 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorder of external ear, unspecified 0.000671 1.5312 0.4502 Pneumonia due to Streptococcus pneumoniae 4.695e-05 13.658 3.355 USP36 rs117840411 17:78812937:C:T 17 78812937 C T 17:76809019 0.929431 1382 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments at neck level 0.000369 1.1007 0.3091 Benign neoplasm: Cerebral meninges 0.005113 27.686 9.888 USP36 rs150547254 17:78827336:G:T 17 78827336 G T 17:76823418 0.969716 1172 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obstructed labour due to maternal pelvic abnormality 0.000564 1.3155 0.3815 Abscess of external ear 0.0002862 239.388 65.992 CANT1 rs11891 17:78992703:G:A 17 78992703 G A 17:76988785 0.99877 0.103825 3926 34218 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of ankle and foot 5.15e-05 0.2887 0.0713 Other intervertebral disc disorders 0.000255 -0.165 0.045 CANT1 rs115856545 17:78992721:C:T 17 78992721 C T 17:76988803 0.994133 6377 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Desbuquois syndrome Seronegative rheumatoid arthritis 0.000514 0.5132 0.1478 0.001118 1.143 0.351 CANT1 rs34082669 17:78993584:C:T 17 78993584 C T 17:76989666 0.981326 1240 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Divergent concomitant strabismus 0.000839 1.3918 0.4167 CANT1 rs144060377 17:78997567:C:T 17 78997567 C T 17:76993649 0.928778 198 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pilonidal cyst 0.00124 3.4745 1.0755 RBFOX3 rs199891032 17:79106664:C:T 17 79106664 C T 17:77102746 0.951328 590 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Leiomyoma of uterus (other cancers excluded from controls) 0.000274 0.6401 0.1759 CBX2 rs149210919 17:79784292:G:T 17 79784292 G T 17:77758091 0.970324 0.00730291 26 2657 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Metabolic disorders 8.02e-05 -0.28 0.071 Dyspnoea 0.0001253 3.08 0.803 CBX2 rs142559735 17:79784383:G:A 17 79784383 G A 17:77758182 0.971317 377 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otosclerosis 0.000334 2.9265 0.8158 CBX2 rs141957173 17:79784854:C:G 17 79784854 C G 17:77758653 0.897321 860 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonspesific lymphadenitis 0.00137 1.9488 0.6089 CBX4 rs754126884 17:79834118:T:TGCCGCC 17 79834118 T TGCCGCC 17:77807917 0.960426 18552 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons with potential health hazards related to socioeconomic and psychosocial circumstances 0.000266 0.1902 0.0522 Other dorsopathies, not elsewhere classified 0.0006001 -0.23 0.067 CCDC40 rs201709592 17:80040052:A:G 17 80040052 A G 17:78013851 0.986552 305 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck (other cancers excluded from controls) 0.000676 4.0001 1.1768 CCDC40 rs202123909 17:80050181:G:A 17 80050181 G A 17:78023980 0.962191 544 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kela-code for behavioural disturbances in mental retardation 0.000787 9.4001 2.7998 CCDC40 rs2289532 17:80050268:G:A 17 80050268 G A 17:78024067 0.921846 81 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of larynx 0.000532 33.1156 9.5591 CCDC40 rs191736683 17:80081656:C:G 17 80081656 C G 17:78055455 0.978755 1128 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Gastric ulcer 0.000783 0.9813 0.2922 Hypothermia 0.0004348 173.647 49.36 CCDC40 rs61749058 17:80081958:C:T 17 80081958 C T 17:78055757 0.994312 0.141875 7320 44803 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ptosis of eyelid 3.13e-05 0.2735 0.0657 Pilonidal cyst 0.0001765 0.429 0.114 CCDC40 rs141343307 17:80086018:C:A 17 80086018 C A 17:78059817 0.960012 509 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Seronegative rheumatoid arthritis 0.000526 2.0984 0.6053 CCDC40 rs117203086 17:80086022:T:C 17 80086022 T C 17:78059821 0.995418 0.040415 596 14252 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified Ill-defined and unknown causes of mortality 5.41e-05 0.8818 0.2184 Other abnormalities of plasma proteins 0.0001998 8.523 2.291 CCDC40 rs60684213 17:80086090:G:A 17 80086090 G A 17:78059889 0.993858 37458 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peripheral artery operations in Hilmo 0.000704 0.2157 0.0637 Malaise and fatigue 0.0004562 0.217 0.062 CCDC40 rs61686936 17:80095330:G:A 17 80095330 G A 17:78069129 0.993028 534 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not specified Short stature, not elsewhere classified 0.000327 5.3085 1.4776 Hypermobility syndrome 0.0009091 83.167 25.071 CCDC40 rs200958035 17:80095398:G:A 17 80095398 G A 17:78069197 0.994601 1465 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of intestine 0.000109 1.6469 0.4255 CCDC40 rs61740509 17:80099686:G:A 17 80099686 G A 17:78073485 0.990199 4179 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;Glycogen storage disease, type II;not specified Glaucoma, exfoliation 0.000178 0.7589 0.2025 Pain associated with micturition 0.0001431 9.146 2.405 GAA rs1800299 17:80104857:G:A 17 80104857 G A 17:78078656 0.995118 0.0191188 166 6858 missense_variant recessive Benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acid alpha-glucosidase, allele 2;Glycogen storage disease, type II;not provided;not specified Other assisted single delivery 1.81e-05 2.3521 0.5487 Lack of expected normal physiological development 0.0007968 11.123 3.316 GAA rs1042393 17:80105798:A:G 17 80105798 A G 17:78079597 0.998654 66556 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cyst of kidney 0.00028 -0.2591 0.0713 Residual foreign body in soft tissue 0.0001006 0.172 0.044 GAA rs1042395 17:80105870:G:A 17 80105870 G A 17:78079669 0.998659 66549 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cyst of kidney 0.000278 -0.2592 0.0713 Residual foreign body in soft tissue 0.0001421 0.168 0.044 GAA rs200856561 17:80107616:C:T 17 80107616 C T 17:78081415 0.921267 332 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Abnormal findings on diagnostic imaging of other body structures 0.00348 2.6805 0.9175 GAA rs200154987 17:80107854:G:A 17 80107854 G A 17:78081653 0.977187 614 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Internar derangement of knee 0.00077 0.5227 0.1554 Benign neoplasm: Skin of eyelid, including canthus 0.002413 39.413 12.99 GAA rs1800307 17:80112072:G:A 17 80112072 G A 17:78085871 0.998396 4858 missense_variant recessive Benign/Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease, type II;not provided;not specified Primary coxarthrosis, bilateral 0.00183 0.3601 0.1155 Other and unspecified immunodeficiencies with predominantly antibody defects 8.954e-05 33.101 8.45 GAA rs1800309 17:80113242:G:A 17 80113242 G A 17:78087041 0.996562 23332 missense_variant recessive Benign/Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acid alpha-glucosidase, allele 4;Glycogen storage disease, type II;not provided;not specified Hypertension, essential 0.000121 0.0828 0.0215 Emotional disorders starting during childhood or adolecense (more controls excluded) 0.000258 1.711 0.468 GAA rs1126690 17:80117606:G:A 17 80117606 G A 17:78091405 0.998245 0.790442 229574 60825 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Residual foreign body in soft tissue 5.21e-05 0.3084 0.0762 Residual foreign body in soft tissue 5.758e-06 0.205 0.045 GAA rs1800314 17:80117714:G:A 17 80117714 G A 17:78091513 0.999821 0.0295954 360 10513 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease, type II;not provided;not specified Convergence insufficiency and excess 8.06e-05 1.5738 0.3992 Other diseases of pericardium 0.001102 4.695 1.439 GAA rs1800315 17:80118786:C:T 17 80118786 C T 17:78092585 0.999955 0.00979618 28 3571 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease, type II;not provided;not specified Metabolic disorders 1.69e-05 -0.2616 0.0608 Hypertrophy of breast 6.062e-05 10.402 2.594 CARD14 rs144475004 17:80184089:G:C 17 80184089 G C 17:78157888 0.977172 3424 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pityriasis rubra pilaris;Psoriasis susceptibility 2 Other papulosquamous disorders 0.000551 3.0313 0.8774 Other and unspecified immunodeficiencies with predominantly antibody defects 1.336e-05 75.89 17.43 CARD14 rs114688446 17:80184162:G:A 17 80184162 G A 17:78157961 0.966 0.00565615 14 2064 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pityriasis rubra pilaris;Psoriasis susceptibility 2;not provided Conjunctivitis 8.19e-05 0.3741 0.095 Acute otitis externa, noninfective 0.002511 37.795 12.507 CARD14 rs61751629 17:80192527:G:A 17 80192527 G A 17:78166326 0.996019 7456 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pityriasis rubra pilaris;Psoriasis susceptibility 2 Disorders of the thyroid gland 0.000879 0.1291 0.0388 Asthma (only as main-diagnosis) (more controls excluded) 0.0006219 0.812 0.237 CARD14 rs62074378 17:80195205:G:A 17 80195205 G A 17:78169004 0.975689 12749 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pityriasis rubra pilaris;Psoriasis susceptibility 2 Polymyalgia rheumatica 0.00124 -0.3863 0.1196 Anxious personality disorder 0.00016 4.954 1.312 CARD14 rs61751630 17:80195575:C:T 17 80195575 C T 17:78169374 0.973385 2614 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pityriasis rubra pilaris;Psoriasis susceptibility 2 Sicca syndrome [Sjogren] 0.00023 1.0885 0.2955 Other acute viral hepatitis 0.001473 60.408 18.997 CARD14 rs2066964 17:80198145:G:C 17 80198145 G C 17:78171944 0.976964 86862 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitiligo 0.00148 0.4556 0.1433 Sequelae of injuries of upper limb 4.374e-05 0.182 0.045 CARD14 rs200102454 17:80198512:C:T 17 80198512 C T 17:78172311 0.948579 1025 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pityriasis rubra pilaris;Psoriasis susceptibility 2 Heart failure, not strict 0.000219 -0.4675 0.1265 Congenital obstructive defects of renal pelvis and congenital malformations of ureter 0.002072 45.882 14.898 CARD14 rs117918077 17:80202245:C:T 17 80202245 C T 17:78176044 0.993449 6626 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pityriasis rubra pilaris;Psoriasis susceptibility 2;not provided Papulosquamous disorders 0.000821 -0.2647 0.0791 0.000488 2.644 0.758 CARD14 rs11652075 17:80205094:C:T 17 80205094 C T 17:78178893 0.99774 90411 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Oesophagus 0.00112 -0.4396 0.1349 Polyarthropathies 0.001114 -0.043 0.013 SGSH rs7503034 17:80210594:C:T 17 80210594 C T 17:78184393 0.996976 83440 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of skin of lower limb, including hip 0.000579 -0.467 0.1357 Diseases of the myoneural junction and muscle 0.0005178 -0.153 0.044 SGSH rs62620232 17:80210802:C:T 17 80210802 C T 17:78184601 0.996362 7028 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Use of disulfiram, acamprosate or naltrexone 0.000358 0.5381 0.1508 0.000324 -0.587 0.163 SGSH rs9894254 17:80210880:C:T 17 80210880 C T 17:78184679 0.999028 24710 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mucopolysaccharidosis, MPS-III-A;Sanfilippo syndrome;not provided;not specified Pyothorax 0.0011 0.4827 0.1479 Impotence 0.0001654 1.448 0.384 SGSH rs144461610 17:80212268:C:G 17 80212268 C G 17:78186067 0.995318 0.015044 70 5457 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of vulva 7.38e-05 2.7245 0.6873 Nonalcoholic fatty liver disease 8.956e-05 10.774 2.75 SGSH rs142557761 17:80214710:C:T 17 80214710 C T 17:78188509 0.990072 976 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Kidney (other cancers excluded from controls) 0.000245 3.8661 1.054 RNF213 rs201620985 17:80287905:T:C 17 80287905 T C 17:78261704 0.996045 4945 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Moyamoya disease 2 Behavioural disorders (more controls excluded) 0.0011 1.4517 0.4449 Vocal cord dysfunction 0.001673 8.244 2.623 RNF213 rs149177904 17:80287950:C:A 17 80287950 C A 17:78261749 0.965613 666 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: other/unspecified salivary gland (other cancers excluded from controls) 0.001 4.0228 1.2225 RNF213 rs144769597 17:80288179:T:A 17 80288179 T A 17:78261978 0.965613 666 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: other/unspecified salivary gland (other cancers excluded from controls) 0.001 4.0228 1.2225 RNF213 rs773721359 17:80290664:AGAG:A 17 80290664 AGAG A 17:78264463 0.962754 252 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Habitual aborter 0.000155 14.4192 3.8121 RNF213 rs113139767 17:80334117:G:A 17 80334117 G A 17:78307917 0.86339 188 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of trunk 0.000586 4.6698 1.3583 RNF213 rs147868237 17:80339481:C:A 17 80339481 C A 17:78313281 0.984966 621 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pleural effusion 0.000217 1.956 0.5288 RNF213 rs189765261 17:80339529:C:T 17 80339529 C T 17:78313329 0.97507 541 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Other appendicitis 0.000302 2.4006 0.6644 RNF213 rs545060242 17:80339897:G:A 17 80339897 G A 17:78313697 0.899671 522 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other facial nerve disorders 0.000592 5.2867 1.5389 RNF213 rs138595111 17:80344886:A:G 17 80344886 A G 17:78318686 0.988936 0.000683201 0 251 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amenorrhoea 6.72e-06 6.1193 1.3591 RNF213 rs144074554 17:80346445:C:T 17 80346445 C T 17:78320245 0.836445 51 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Proliferative diabetic retinopathy 0.00028 3.4236 0.9423 RNF213 rs147785564 17:80349770:A:G 17 80349770 A G 17:78323570 0.986675 298 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of infectious and parasitic diseases 0.000184 3.6787 0.9837 RNF213 rs147900479 17:80364503:G:A 17 80364503 G A 17:78338303 0.936924 118 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other surgical follow-up care 0.000184 18.392 4.9181 RNF213 rs139265462 17:80368043:C:T 17 80368043 C T 17:78341843 0.969464 387 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic tubulo-interstitial nephritis 0.00161 3.8214 1.2117 RNF213 rs138029774 17:80372731:C:A 17 80372731 C A 17:78346531 0.995615 1815 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified nerve root and plexus disorders, also in other diseases 0.000244 0.9239 0.2518 Carcinoma in situ of breast, other/unspecified 0.0007808 103.538 30.819 RNF213 rs141329059 17:80373040:G:A 17 80373040 G A 17:78346840 0.994109 668 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of arteries and capillaries 0.000907 1.971 0.5941 RNF213 rs148731719 17:80376310:G:A 17 80376310 G A 17:78350110 0.992122 1650 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Moyamoya disease 2 Benign neoplasm: Skin of lip 0.00119 3.5518 1.0955 Benign neoplasm: Skin of lip 0.001216 72.099 22.287 RNF213 rs61741961 17:80383030:G:T 17 80383030 G T 17:78356830 0.990792 0.0117478 48 4268 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified immunodeficiencies with predominantly antibody defects 6.87e-05 2.673 0.6715 Other and unspecified immunodeficiencies with predominantly antibody defects 1.983e-05 65.967 15.46 RNF213 rs12944385 17:80383800:A:G 17 80383800 A G 17:78357600 0.978431 4666 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Monoplegia 0.000217 2.3309 0.6303 Monoplegia 7.048e-05 36.463 9.174 ENDOV rs41299812 17:80423537:C:T 17 80423537 C T 17:78397337 0.994399 1813 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified nerve root and plexus disorders, also in other diseases 0.000237 0.9271 0.2522 Carcinoma in situ of breast, other/unspecified 0.0007808 103.538 30.819 ACTG1 rs2230158 17:81511591:G:A 17 81511591 G A 17:79478617 0.990626 1874 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Asthma, unspecified (mode) (more controls excluded) 0.000697 0.4357 0.1285 Other retinal artery occlusion 0.002166 41.978 13.689 ACTG1 rs117809695 17:81511780:G:T 17 81511780 G T 17:79478806 0.978262 4855 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glaucoma, exfoliation 0.000423 0.6984 0.1981 Seborrhoeic dermatitis 0.0001607 8.76 2.321 FSCN2 rs137853900 17:81528580:G:A 17 81528580 G A 17:79495606 0.99027 1883 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinitis pigmentosa 30;not provided Inflammatory bowel disease 0.000108 0.6277 0.1621 Colitis, primary sclerosing, strict definition 0.0008705 95.727 28.753 FSCN2 rs143796236 17:81528943:C:T 17 81528943 C T 17:79495969 0.990165 2940 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other and unspecified injuries of wrist and hand 0.000477 1.773 0.5075 Redundant prepuce, phimosis and paraphimosis 8.629e-07 9.629 1.957 FSCN2 rs186367879 17:81535192:G:A 17 81535192 G A 17:79502218 0.983558 9568 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Type 2 diabetes, definitions combined 0.000929 -0.1214 0.0367 Diseases of the myoneural junction and muscle 0.000304 2.483 0.687 NPLOC4 rs201095089 17:81559406:G:A 17 81559406 G A 17:79526432 0.939526 1356 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pediculosis, acariasis and other infestations 0.000333 2.175 0.6061 Hepatomegaly and splenomegaly, not elsewhere classified 0.0004114 184.157 52.129 PDE6G rs117011954 17:81651676:G:A 17 81651676 G A 17:79618706 0.842025 130 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Total colectomy operation 0.00128 9.6569 2.9977 PDE6G rs56125934 17:81656561:C:T 17 81656561 C T 17:79623591 0.987189 4753 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Recessive Other disorders of penis 0.000436 0.7341 0.2087 Symptoms and signs involving the nervous and musculoskeletal systems 0.0002671 2.352 0.645 HGS rs145607073 17:81693579:C:G 17 81693579 C G 17:79660609 0.956461 262 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glomerulonephritis 0.000224 1.8803 0.5095 MRPL12 rs112518314 17:81704302:T:C 17 81704302 T C 17:79671332 0.994529 5761 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other obstetric conditions, not elsewhere classified 0.000122 0.3898 0.1015 0.000132 -0.688 0.18 MRPL12 rs11546280 17:81704684:T:C 17 81704684 T C 17:79671714 0.9988 17263 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Dissection of aorta 0.000622 0.6257 0.1829 Hypertension, essential 0.0008055 0.259 0.077 GCGR rs1801483 17:81809839:G:A 17 81809839 G A 17:79767715 0.987815 548 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries involving multiple body regions 0.000153 5.5729 1.472 PYCR1 rs3744807 17:81932942:C:T 17 81932942 C T 17:79890818 0.97528 452 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hereditary corneal dystrophies 0.00113 5.993 1.8413 PYCR1 rs147653673 17:81935132:G:A 17 81935132 G A 17:79893008 0.878573 134 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cushing syndrome 0.00102 21.6171 6.5803 FASN rs149224679 17:82079377:C:T 17 82079377 C T 17:80037253 0.930545 183 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the elbow and forearm 0.000585 1.199 0.3487 FASN rs145866788 17:82081633:C:T 17 82081633 C T 17:80039509 0.870288 780 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corneal scars and opacities 0.000535 5.4496 1.5737 FASN rs145688025 17:82082574:C:T 17 82082574 C T 17:80040450 0.98022 3203 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Other contact dermatitis 0.000416 0.8721 0.2471 Other symptoms and signs involving the circulatory and respiratory systems 0.0003475 17.41 4.867 FASN rs145515446 17:82082646:G:A 17 82082646 G A 17:80040522 0.985749 1450 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Maternal care for other known or suspected fetal problems 0.000136 0.8594 0.2252 Unspecified lump in breast 0 19.466 0 FASN rs144212251 17:82083297:G:A 17 82083297 G A 17:80041173 0.981849 762 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.000555 2.2481 0.6511 FASN rs2229426 17:82083522:G:A 17 82083522 G A 17:80041398 0.979207 6310 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Other necrotizing vasculopathies 0.000895 0.7273 0.2189 Injury of muscle and tendon at wrist and hand level 0.0008125 3.245 0.969 FASN rs140375571 17:82083573:G:A 17 82083573 G A 17:80041449 0.969782 297 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cutaneous abscess, furuncle and carbuncle 0.000664 1.9259 0.5658 FASN rs150915750 17:82085630:G:A 17 82085630 G A 17:80043506 0.963439 776 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Other obstetric trauma 0.000527 2.6709 0.7705 Heart failure,strict 3.049e-05 2.633 0.631 FASN rs146146551 17:82087245:C:T 17 82087245 C T 17:80045121 0.866909 104 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Small cell lung cancer 0.00103 21.2808 6.4855 FASN rs142371324 17:82088005:C:T 17 82088005 C T 17:80045881 0.994559 7751 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Abscess of anal and rectal regions 0.000498 0.5598 0.1608 Hypertrophic cardiomyopathy 0.0004102 6.617 1.873 FASN rs12946178 17:82089118:C:T 17 82089118 C T 17:80046994 0.979332 404 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter ILD-related respiratory insufficiency 0.000835 1.3777 0.4124 FASN rs144627566 17:82089153:G:A 17 82089153 G A 17:80047029 0.978722 1023 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Parotid gland 0.00172 1.7308 0.5521 FASN rs45444391 17:82090395:G:A 17 82090395 G A 17:80048271 0.930611 435 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Other complications of labour and delivery, not elsewhere classified 0.000922 2.7136 0.819 Pain in throat and chest 4.859e-05 4.686 1.154 FASN rs149982597 17:82091278:C:A 17 82091278 C A 17:80049154 0.98452 2456 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Epileptic encephalopathy Spontaneous abortion 0.00022 0.5017 0.1358 Pure hypercholesterolaemia 0.0003229 3.579 0.995 FASN rs199604315 17:82092544:C:T 17 82092544 C T 17:80050420 0.92681 681 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins of other sites 0.000113 2.6188 0.6782 FASN rs201186614 17:82095454:C:T 17 82095454 C T 17:80053330 0.877184 911 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and unspecified female genital organs (other cancers excluded from controls) 0.00104 2.6518 0.8084 Other facial nerve disorders 0.000432 145.369 41.301 HEXDC rs4789773 17:82433808:A:G 17 82433808 A G 17:80391684 0.994156 0.328506 39830 80859 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of major salivary glands (other cancers excluded from controls) 3.97e-05 0.2002 0.0487 Benign neoplasm: other/unspecified salivary gland (other cancers excluded from controls) 8.942e-05 0.379 0.097 FOXK2 rs138822262 17:82586060:C:T 17 82586060 C T 17:80543936 0.974364 0.00301861 2 1107 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Artificial opening status 6.14e-05 3.8928 0.9714 FOXK2 rs12150682 17:82586096:C:T 17 82586096 C T 17:80543972 0.883463 1731 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertrophic scar 0.000144 1.9218 0.5057 Inflammatory disease of cervix uteri 7.68e-05 24.946 6.309 WDR45B rs148665559 17:82648324:C:T 17 82648324 C T 17:80606200 0.974548 0.00281719 6 1029 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Procreative management 3.9e-05 1.0827 0.2632 Disorders of lens 7.012e-05 5.607 1.41 ZNF750 rs35283702 17:82831626:C:T 17 82831626 C T 17:80789502 0.949814 1896 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Subjective visual disturbances 0.000105 0.8619 0.2222 Discitis, unspecified 0.001112 74.634 22.891 TBCD rs202149526 17:82927280:A:G 17 82927280 A G 17:80885156 0.99686 1721 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Background diabetic retinopathy 0.00012 0.9974 0.2593 Other/unspecified cytomegaloviral diseases 0.000459 159.789 45.607 TBCD rs188081246 17:82941437:G:A 17 82941437 G A 17:80899313 0.968918 0.00320914 6 1173 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Special screening examination for infectious and parasitic diseases 3.02e-05 0.8011 0.192 Hyperplasia of prostate 0.0001377 2.092 0.549 TBCD rs2292969 17:82941473:T:C 17 82941473 T C 17:80899349 0.998044 3742 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other epidermal thickening 0.000486 1.3817 0.3961 Other epidermal thickening 0.0003403 17.484 4.88 METRNL rs142120953 17:83094385:A:G 17 83094385 A G 17:81052130 0.982745 2343 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Internar derangement of knee 0.000373 0.2906 0.0817 Pain, not elsewhere classified 0.001082 9.343 2.859 SMCHD1 rs2276092 18:2707621:G:A 18 2707621 G A 18:2707619 0.989816 82830 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcer of vagina/vulva 0.000132 0.4599 0.1203 Ulcer of vagina/vulva 0.0001043 0.319 0.082 SMCHD1 rs633422 18:2724932:A:T 18 2724932 A T 18:2724930 0.999683 91446 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sequelae of cerebrovascular disease 0.000111 0.097 0.0251 Other/unspecified disorders of vestibular function 0.0008207 -0.221 0.066 SMCHD1 rs113434340 18:2732425:T:C 18 2732425 T C 18:2732423 0.950919 280 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Suggestive for eosinophilic asthma 0.000111 3.9813 1.0303 LPIN2 rs150806357 18:2925286:G:A 18 2925286 G A 18:2925284 0.990214 672 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Majeed syndrome;not provided;not specified Other disorders of choroid 0.000842 6.6779 2.0003 Other and unspecified types of non-Hodgkin lymphoma 0.0006913 101.581 29.938 LPIN2 rs61735393 18:2925361:C:T 18 2925361 C T 18:2925359 0.98773 737 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Majeed syndrome;not provided;not specified Intermittent heterotropia 0.000212 2.8041 0.757 Impingement syndrome of shoulder 4.206e-05 13.566 3.312 LPIN2 rs150022314 18:2926781:A:G 18 2926781 A G 18:2926779 0.990841 647 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Any dementia (more controls excluded) 0.000171 1.1086 0.295 LPIN2 rs104895500 18:2929105:G:A 18 2929105 G A 18:2929103 0.996238 1386 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspecified diabetes without complications 0.00158 1.2226 0.3869 LPIN2 rs771486222 18:2931364:C:T 18 2931364 C T 18:2931362 0.84196 222 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pollen allergy 0.000282 2.6648 0.7339 LPIN2 rs201678207 18:2937728:G:A 18 2937728 G A 18:2937726 0.836895 0.000122486 0 45 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonhereditary hypogammaglobulinemia 6.56e-05 72.4476 18.1499 MYOM1 rs730880167 18:3083991:A:T 18 3083991 A T 18:3083989 0.808037 1269 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Simple and mucoplurulent chronic bronchitis 0.000358 2.5581 0.7166 MYOM1 rs181642354 18:3084010:T:A 18 3084010 T A 18:3084008 0.896336 232 missense_variant unknown Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nephrotic syndrome 0.000673 7.0716 2.0796 MYOM1 rs3765623 18:3086067:C:T 18 3086067 C T 18:3086065 0.99347 25214 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;not specified Chronic suppurative otitis media 0.000201 0.481 0.1294 Calculus of lower urinary tract 8.428e-05 1.465 0.373 MYOM1 rs1071600 18:3126813:A:G 18 3126813 A G 18:3126811 0.995367 50874 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other conjunctival vascular disorders and cysts 0.000541 0.4434 0.1282 Family history of certain disabilities and chronic diseases leading to disablement 4.129e-05 0.724 0.177 MYOM1 rs199900004 18:3129370:T:C 18 3129370 T C 18:3129368 0.986197 554 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrophic cardiomyopathy;not specified Other disorders of penis 0.000435 2.2363 0.6357 Hypertrophic scar 0.0005774 108.867 31.629 MYOM1 rs149528866 18:3135646:C:T 18 3135646 C T 18:3135644 0.971814 12287 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Hypertrophic cardiomyopathy;not specified Appendicitis, broad definition 0.000548 0.1209 0.035 Effects of foreign body entering through natural orifice 0.0006045 1.03 0.3 MYOM1 rs188677538 18:3135694:T:A 18 3135694 T A 18:3135692 0.983839 4148 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Hypertrophic cardiomyopathy;not specified Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.000122 3.0789 0.8013 Meralgia paraesthetica 0.0003847 18.083 5.093 MYOM1 rs201104206 18:3141986:G:C 18 3141986 G C 18:3141984 0.968228 841 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrophic cardiomyopathy;Primary dilated cardiomyopathy;Primary familial hypertrophic cardiomyopathy;not specified Chronic gastritis 0.000174 0.9621 0.2562 Cardiovascular diseases 7.511e-05 -1.927 0.487 MYOM1 rs8099021 18:3176042:C:G 18 3176042 C G 18:3176040 0.990361 65399 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alergic contact dermatitis 0.00103 0.1364 0.0416 Other orthopaedic follow-up care 0.001206 0.123 0.038 MYOM1 rs139422575 18:3188780:C:T 18 3188780 C T 18:3188778 0.94871 0.00636384 16 2322 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Hypertrophic cardiomyopathy;not specified Umbilical hernia 4.25e-05 0.7132 0.1742 Vascular syndromes of brain in cerebrovascular disorders 0.001364 56.557 17.662 MYOM1 rs2230165 18:3188875:G:A 18 3188875 G A 18:3188873 0.996245 10218 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;not specified Haemorrhage from respiratory passages 0.00212 0.2126 0.0692 Impetigo 0.0001263 5.542 1.446 MYOM1 rs1962519 18:3188978:A:G 18 3188978 A G 18:3188976 0.990893 91790 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified diabetes with multiple/unspecified complications 0.00153 -0.2391 0.0755 Other facial nerve disorders 0.0002743 0.257 0.071 MYOM1 rs202145133 18:3215085:T:C 18 3215085 T C 18:3215083 0.981386 13889 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Hypertrophic cardiomyopathy;not specified Other symptoms and signs involving the nervous and musculoskeletal systems 0.000241 -0.2051 0.0559 Internar derangement of knee 0.0009508 0.37 0.112 MYOM1 rs1791085 18:3215160:C:G 18 3215160 C G 18:3215158 0.993934 33120 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;not specified Haemorrhagic and haematological disorders of fetus and newborn 0.000902 0.7717 0.2325 Other papulosquamous disorders 0.0004123 2.245 0.636 TGIF1 rs111896914 18:3452032:C:T 18 3452032 C T 18:3452030 0.943375 5758 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of endocrine gland 0.000175 0.7647 0.2038 Superficial injury of lower leg 0.0001274 2.852 0.744 TGIF1 rs559432063 18:3452224:CT:C 18 3452224 CT C 18:3452222 0.949538 88569 pLoF dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of globe 0.001 0.3075 0.0935 Peripheral retinal degeneration 0.001232 -0.253 0.078 TGIF1 rs4468717 18:3457608:C:T 18 3457608 C T 18:3457606 0.965238 43338 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Otosclerosis 0.000424 -0.2325 0.066 Other disorders of nervous system 0.0001431 0.633 0.167 TGIF1 rs2229333 18:3457609:C:T 18 3457609 C T 18:3457607 0.954759 13194 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Holoprosencephaly sequence;not specified Postpartum care and examination 0.00148 -0.2711 0.0853 Psychiatric diseases 0.0004591 -0.335 0.096 EPB41L3 rs117538203 18:5419724:C:T 18 5419724 C T 18:5419723 0.987046 0.00132013 2 483 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydrocephalus 3.92e-06 5.889 1.2759 LAMA1 rs76482057 18:6959395:G:A 18 6959395 G A 18:6959394 0.996502 0.00977169 54 3536 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abdominal and pelvic pain 4.41e-05 0.1711 0.0419 0.000388 -6.34 1.787 LAMA1 rs76842111 18:6971873:G:A 18 6971873 G A 18:6971872 0.984685 14542 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified abdominal hernia 0.000879 0.6033 0.1814 Malignant neoplasm of eye and adnexa (other cancers excluded from controls) 0.0008244 5.213 1.559 LAMA1 rs142934543 18:6977815:T:G 18 6977815 T G 18:6977814 0.965128 168 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dissection of aorta 0.000259 8.9469 2.4493 LAMA1 rs140764072 18:6978322:C:T 18 6978322 C T 18:6978321 0.991275 1066 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments of elbow 0.00127 1.8577 0.5766 LAMA1 rs12961939 18:6997819:A:C 18 6997819 A C 18:6997818 0.98349 69783 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectopic pregnancy 0.000661 -0.1406 0.0413 Hernia of abodminal wall 0.001593 0.09 0.028 LAMA1 rs149753863 18:7009294:C:T 18 7009294 C T 18:7009293 0.993439 0.00110782 0 407 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Charcot foot 3.31e-05 15.5765 3.7523 LAMA1 rs761583943 18:7011307:C:T 18 7011307 C T 18:7011306 0.907364 239 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Stomach 0.000405 3.9373 1.1132 LAMA1 rs141851670 18:7016580:C:T 18 7016580 C T 18:7016579 0.96303 164 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain in throat and chest 0.00251 0.8804 0.2914 LAMA1 rs144738522 18:7023208:G:A 18 7023208 G A 18:7023207 0.989825 494 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Prepatellar bursitis 0.000647 4.0475 1.1866 LAMA1 rs144429570 18:7032154:C:T 18 7032154 C T 18:7032153 0.995506 3143 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autism spe (more controls excluded) 0.000297 2.6668 0.7371 0.0007259 -0.852 0.252 LAMA1 rs566655 18:7034509:T:G 18 7034509 T G 18:7034508 0.993946 64262 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of veins 0.00153 -0.0848 0.0268 Benign neoplasm: Ascending colon 0.00177 0.237 0.076 LAMA1 rs143997842 18:7037642:G:A 18 7037642 G A 18:7037641 0.874795 719 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Secondary hypertension 0.000422 2.1788 0.618 LAMA1 rs148751644 18:7042223:G:A 18 7042223 G A 18:7042222 0.997114 9733 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mucosal proctocolitis 0.00095 0.3799 0.115 Benign neoplasm: Skin, unspecified (other cancers excluded from controls) 7.859e-06 6.939 1.553 LAMA1 rs140718292 18:7049172:C:T 18 7049172 C T 18:7049171 0.965024 1530 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperaldosteronism 0.000854 2.7703 0.8307 Aphakia 0.0003504 182.945 51.175 LAMA1 rs201665173 18:7050879:A:G 18 7050879 A G 18:7050878 0.945023 452 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Alzheimer disease 0.000174 1.6849 0.4489 LAMA1 rs147676957 18:7080338:C:T 18 7080338 C T 18:7080337 0.9591 294 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Nontoxic multinodular goitre 0.00175 1.7561 0.5611 NDUFV2 rs906807 18:9117869:T:C 18 9117869 T C 18:9117867 0.998653 67526 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nausea and vomiting 0.000347 0.109 0.0305 0.0004267 -0.08 0.023 PIEZO2 rs146400447 18:10672695:G:A 18 10672695 G A 18:10672692 0.959445 639 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular cyst 0.000421 8.3067 2.3556 Diabetic hypoglycemia 0 7.092 0 PIEZO2 rs3748428 18:10681714:C:T 18 10681714 C T 18:10681711 0.993399 41528 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personal history of other diseases and conditions 0.000224 -0.2507 0.0679 Medication related adverse effects (Asthma/COPD) 0.0002471 0.104 0.029 PIEZO2 rs79992793 18:10699089:C:G 18 10699089 C G 18:10699087 0.981669 1019 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Emotional disorders starting during childhood or adolecense (more controls excluded) 0.000139 3.3703 0.8847 Allergic purpura 0.00029 258.371 71.294 PIEZO2 rs113682091 18:10699131:G:T 18 10699131 G T 18:10699129 0.991793 19836 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Allergic rhinitis 0.000219 0.1745 0.0472 Interstitial lung disease 4.758e-05 1.138 0.28 PIEZO2 rs200276831 18:10699144:C:G 18 10699144 C G 18:10699142 0.967128 0.00228913 4 837 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arthrogryposis, distal, with impaired proprioception and touch;Gordon's syndrome;Marden-Walker syndrome;Oculomelic amyoplasia;not specified Benign neoplasms (other cancers excluded from controls) 7.64e-05 0.36 0.091 Follicular lymphoma 0.001534 58.322 18.409 PIEZO2 rs4796901 18:10704621:C:G 18 10704621 C G 18:10704619 0.999784 64440 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peroneal tendinitis 0.000325 0.5807 0.1616 Malignant neoplasm of digestive organs (other cancers excluded from controls) 0.0004571 -0.129 0.037 PIEZO2 rs199842060 18:10704639:C:T 18 10704639 C T 18:10704637 0.950069 1688 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chorioretinal inflammation 0.000124 3.0747 0.801 Other/unspecified synovitis and tenosynovitis 0.0001257 23.977 6.253 PIEZO2 rs373973800 18:10705438:C:T 18 10705438 C T 18:10705436 0.932532 207 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Acquired absence of organs, not elsewhere classified 0.0017 16.8909 5.3833 PIEZO2 rs186065260 18:10714809:G:C 18 10714809 G C 18:10714807 0.977954 9522 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter malignant neoplasm of female genital organs (other cancers excluded from controls) 0.00124 -0.2672 0.0828 Lung transplantation 0.0009215 2.328 0.703 PIEZO2 rs2865121 18:10731430:C:T 18 10731430 C T 18:10731428 0.988515 70430 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Optic neuritis 0.000454 -0.2719 0.0775 Hypertension 0.0001964 0.053 0.014 PIEZO2 rs5024299 18:10741013:G:A 18 10741013 G A 18:10741011 0.994453 68468 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emphysema 0.000307 0.2697 0.0747 Peripheral retinal degeneration 3e-04 -0.205 0.057 PIEZO2 rs7234309 18:10752668:C:T 18 10752668 C T 18:10752666 0.995856 64671 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi 0.000799 -0.1042 0.0311 Benign neoplasm: Parotid gland 0.0009852 0.282 0.086 PIEZO2 rs35033671 18:10759842:C:A 18 10759842 C A 18:10759840 0.998928 64333 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emotional disorders starting during childhood or adolecense 0.000117 -0.2765 0.0718 Complications associated with artificial fertilization 0.0003911 0.668 0.188 PIEZO2 rs202104395 18:10800454:C:G 18 10800454 C G 18:10800452 0.977818 0.00552005 14 2014 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Cystitis 5.14e-05 0.5267 0.1301 Sixth [abducent] nerve palsy 0.00134 65.673 20.476 PIEZO2 rs145948919 18:10979657:T:G 18 10979657 T G 18:10979655 0.930571 3142 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Total colectomy operation 0.000267 1.5713 0.431 Endometriosis of intestine 0.0007014 96.098 28.355 AFG3L2 rs117182113 18:12329645:G:A 18 12329645 G A 18:12329644 0.987617 918 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spinocerebellar Ataxia, Dominant;not provided;not specified Hyperparathyroidism 0.00035 1.1175 0.3126 Benign neoplasm: Other/unspecified site 0.0002355 301.208 81.904 AFG3L2 rs752662018 18:12353121:G:A 18 12353121 G A 18:12353120 0.878938 791 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Asthma mixed form (mode) (more controls excluded) 0.000476 2.8161 0.806 CEP192 rs149216711 18:13008498:G:C 18 13008498 G C 18:13008497 0.989716 5790 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of Eustachian tube 0.002 1.2534 0.4057 Follicular lymphoma 0.001189 9.863 3.043 MC2R rs181640454 18:13884754:C:T 18 13884754 C T 18:13884753 0.991351 625 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Allergic urticaria 0.000426 2.2951 0.6514 MC2R rs28926178 18:13885439:G:C 18 13885439 G C 18:13885438 0.978063 0.00130108 2 476 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Attention to artificial openings 5.03e-05 9.8737 2.4353 ROCK1 rs45562542 18:20984522:G:C 18 20984522 G C 18:18564483 0.999056 0.0169575 132 6098 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of arteries, arterioles and capillaries 2.37e-05 0.259 0.0613 Obstructed labour due to maternal pelvic abnormality 0.0003455 4.022 1.124 CTAGE1 rs61747183 18:22415766:T:C 18 22415766 T C 18:19995729 0.954775 1418 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Autoimmune thyroiditis 0.000607 3.4666 1.0111 Congenital malformations of aortic and mitral valves 0.000432 139.697 39.689 RBBP8 rs139743319 18:22993194:A:G 18 22993194 A G 18:20573157 0.98454 224 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Neovascular glaucoma 0.000327 8.7188 2.4264 RBBP8 rs111445733 18:22993593:G:A 18 22993593 G A 18:20573556 0.969773 1899 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Hypertrophy of (infrapatellar) fat pad 0.000574 4.2068 1.2216 Unspecified chronic bronchitis 0.0008994 85.603 25.782 C18orf8 rs112277818 18:23503683:C:A 18 23503683 C A 18:21083647 0.995414 370 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Total colectomy operation 0.000339 6.034 1.6838 NPC1 rs1805084 18:23532242:C:T 18 23532242 C T 18:21112206 0.994169 4613 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Niemann-Pick disease type C1;Niemann-Pick disease, type C;not provided;not specified Hypertension, essential 0.000459 -0.1684 0.0481 Other coagulation defects 0.0001337 9.455 2.475 NPC1 rs141440861 18:23536701:C:T 18 23536701 C T 18:21116665 0.979167 1128 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Niemann-Pick disease type C1;not specified Congenital malformations of breast 0.00147 4.1672 1.3101 Hernia of abodminal wall 1.564e-05 5.727 1.326 NPC1 rs150334966 18:23538572:G:A 18 23538572 G A 18:21118536 0.959451 600 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Niemann-Pick disease type C1;Niemann-Pick disease, type C;not provided Primary_lymphoid and hematopoietic malignant neoplasms 0.000712 1.2542 0.3705 Arthropathies 0 1.658 0 NPC1 rs543206298 18:23539405:G:A 18 23539405 G A 18:21119369 0.844567 0.000381069 0 140 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of upper respiratory tract 2.71e-05 0.956 0.2278 NPC1 rs1805082 18:23540480:T:C 18 23540480 T C 18:21120444 0.999942 0.493446 89666 91620 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain (limb, back, neck, head abdominally) 1.07e-06 -0.0342 0.007 Pain (limb, back, neck, head abdominally) 6.445e-05 -0.023 0.006 NPC1 rs199812609 18:23554831:C:T 18 23554831 C T 18:21134795 0.878443 128 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrophic cardiomyopathy 0.000105 11.6177 2.9951 NPC1 rs80358251 18:23560403:G:A 18 23560403 G A 18:21140367 0.991363 0.0214242 146 7725 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Niemann-Pick disease type C1;not provided;not specified Pregnancy examination and test 2.99e-05 0.3586 0.0859 0.0001383 9.513 2.496 NPC1 rs55680026 18:23560447:T:C 18 23560447 T C 18:21140411 0.94046 304 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypo-osmolality and hyponatraemia 0.00203 2.2956 0.7439 NPC1 rs1805081 18:23560468:T:C 18 23560468 T C 18:21140432 0.999698 0.447432 73572 90809 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain (limb, back, neck, head abdominally) 9.02e-06 -0.0314 0.0071 Other special examinations and investigations of persons without complaint or reported diagnosis 0.0008485 -0.025 0.007 NPC1 rs145666943 18:23573452:C:A 18 23573452 C A 18:21153416 0.996608 336 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on examination of other body fluids, substances and tissues, without diagnosis 0.000773 0.9602 0.2856 LAMA3 rs34799994 18:23847592:G:A 18 23847592 G A 18:21427556 0.968286 206 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis of hip 0.000385 13.5923 3.8287 LAMA3 rs138914132 18:23873154:T:G 18 23873154 T G 18:21453118 0.997277 1659 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epidermolysis bullosa, junctional;Laryngoonychocutaneous syndrome Suppurative and unspecified otitis media 0.000118 0.5643 0.1466 Benign neoplasm: Vulva 0.0006436 115.622 33.881 LAMA3 rs45516998 18:23920939:G:T 18 23920939 G T 18:21500903 0.946646 665 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diabetes, opthalmic co-morbidities 0.000509 3.3806 0.9725 LAMA3 rs1154232 18:23931070:C:A 18 23931070 C A 18:21511034 0.997449 66882 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified chronic bronchitis 0.000798 -0.2928 0.0873 Hypersensitivity pneumonitis due to organic dust 0.0003409 0.568 0.159 LAMA3 rs61752346 18:23933924:C:T 18 23933924 C T 18:21513888 0.970213 267 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other assisted single delivery 0.000305 14.6082 4.0451 LAMA3 rs150956802 18:23950076:C:T 18 23950076 C T 18:21530040 0.99551 0.0179429 140 6452 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Junctional epidermolysis bullosa gravis of Herlitz Other diseases of spinal cord 3.41e-05 1.474 0.3557 Complications of genitourinary prosthetic devices, implants and grafts 0.0007248 12.58 3.722 AQP4 rs200498749 18:26856228:C:T 18 26856228 C T 18:24436192 0.987491 1200 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Residual foreign body in soft tissue 0.000637 2.0972 0.6141 DSC2 rs200056085 18:31068033:T:TTC 18 31068033 T TTC 18:28647999 0.995994 4143 LC both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 11;Cardiomyopathy;Cardiovascular phenotype;Primary familial hypertrophic cardiomyopathy;not specified Benign neoplasm of colon, rectum, anus and anal canal (other cancers excluded from controls) 0.00071 0.2877 0.085 0.0002382 -1.348 0.367 DSC2 rs61731921 18:31069009:C:T 18 31069009 C T 18:28648975 0.998083 35440 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lesion of plantar nerve 0.000164 0.3019 0.0801 Injury of urinary and pelvic organs 0.0003365 1.447 0.404 DSC2 rs1893963 18:31069076:T:C 18 31069076 T C 18:28649042 0.98851 20469 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 11;Cardiovascular phenotype;not specified Sequelae of injuries of head 0.000538 0.4669 0.1349 Myeloid leukaemia 0.0006002 2.771 0.808 DSC2 rs151024019 18:31070782:A:C 18 31070782 A C 18:28650748 0.986239 363 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertrophic scar 0.000357 4.6375 1.2991 DSC2 rs200475862 18:31071829:C:T 18 31071829 C T 18:28651795 0.975283 2405 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy, type 11;not specified Hernia of abodminal wall, postoperative 0.000528 0.7544 0.2177 Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 0.0004024 183.067 51.736 DSC2 rs561310777 18:31079951:A:G 18 31079951 A G 18:28659917 0.953854 642 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter General examination and investigation of persons without complaint and reported diagnosis 0.000452 0.525 0.1497 DSC2 rs560482778 18:31082270:T:C 18 31082270 T C 18:28662236 0.839248 126 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Cerebral meninges (other cancers excluded from controls) 0.000431 6.6516 1.8895 DSC2 rs139399951 18:31082930:G:A 18 31082930 G A 18:28662896 0.995344 1517 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 11;Cardiac arrest;Cardiomyopathy;Cardiovascular phenotype;not provided;not specified Meniere disease 0.000105 1.3629 0.3515 Hypertrichosis 0.001064 79.77 24.372 DSG1 rs1426310 18:31318331:A:G 18 31318331 A G 18:28898294 0.998306 90392 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Progressive vascular leukoencephalopathy 0.00107 0.3347 0.1023 Early onset COPD 0.001807 -0.067 0.022 DSG1 rs139058372 18:31354317:T:A 18 31354317 T A 18:28934280 0.844685 255 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Tongue 0.000299 8.8224 2.4399 DSG1 rs149191001 18:31354330:C:T 18 31354330 C T 18:28934293 0.9044 0.000683201 2 249 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of middle ear and respiratory system (other cancers excluded from controls) 9.42e-05 5.6968 1.4589 DSG1 rs78995670 18:31354411:A:G 18 31354411 A G 18:28934374 0.980209 715 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psoriasis 0.000351 1.0656 0.2981 DSG1 rs117656447 18:31354412:T:C 18 31354412 T C 18:28934375 0.983163 3068 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other demyelinating diseases of the central nervous system 0.000182 1.6944 0.4527 Abnormalities of forces of labour 0.0009085 9.959 3.002 DSG1 rs3752095 18:31354718:A:T 18 31354718 A T 18:28934681 0.998046 38759 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectum 0.000975 -0.1829 0.0555 Open wound of thorax 0.0017 1.183 0.377 DSG4 rs36040686 18:31388386:C:T 18 31388386 C T 18:28968349 0.966472 0.000394678 0 145 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diffuse brain injury 1.05e-05 13.4497 3.0519 DSG4 rs146853509 18:31391108:G:A 18 31391108 G A 18:28971071 0.997347 11335 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Localized AR Hypotrichosis Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.000114 0.1458 0.0378 Other specified/unspecified spondylopathies 6.185e-06 7.229 1.599 DSG4 rs35378785 18:31399464:G:A 18 31399464 G A 18:28979427 0.966718 0.000402844 0 148 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diffuse brain injury 1.24e-05 12.9877 2.9713 DSG4 rs117510013 18:31403485:A:G 18 31403485 A G 18:28983448 0.987593 0.0241788 234 8649 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Localized AR Hypotrichosis Calcaneal spur 3.67e-05 1.8944 0.459 Benign neoplasm: Pancreas 6.6e-06 25.426 5.642 DSG4 rs34620697 18:31403566:C:T 18 31403566 C T 18:28983529 0.888768 0.00179102 2 656 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified nail disorders 4.3e-05 10.2232 2.4992 DSG4 rs4799570 18:31406370:A:C 18 31406370 A C 18:28986333 0.990499 32973 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other intracranial haemorrhages 0.000872 -0.5255 0.1579 Spondylopathies 0.001123 0.041 0.012 DSG4 rs150706241 18:31413249:A:G 18 31413249 A G 18:28993212 0.993738 1579 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Localized AR Hypotrichosis Traumatic ischaemia of muscle 0.00136 3.4343 1.0719 Abscess of Bartholin gland 0.001464 60.196 18.92 DSG4 rs139102330 18:31413267:A:G 18 31413267 A G 18:28993230 0.993509 790 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic subarachnoid haemorrhage 0.000644 4.0699 1.1927 DSG3 rs61730311 18:31469175:C:T 18 31469175 C T 18:29049138 0.999667 0.00415365 18 1508 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of eye, ear, face and neck 1.76e-05 1.9473 0.4535 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.0005615 140.62 40.764 DSG2 rs121913013 18:31519887:G:A 18 31519887 G A 18:29099850 0.88415 148 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Carcinoma in situ of breast, other/unspecified 0.000469 25.4481 7.2759 DSG2 rs191143292 18:31521193:T:G 18 31521193 T G 18:29101156 0.948202 3036 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy, type 10;Arrhythmogenic right ventricular dysplasia, familial 1;Cardiovascular phenotype;not provided;not specified Endometriosis of rectovaginal septum and vagina 0.000139 1.0504 0.2757 Otitis media, unspecified 0.0009981 6.627 2.014 DSG2 rs2230234 18:31524751:A:G 18 31524751 A G 18:29104714 0.998074 0.136602 7060 43126 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atrial fibrillation and flutter 1.89e-05 0.0998 0.0233 Abscess of lung 0.0001448 1.674 0.44 DSG2 rs191564916 18:31524877:A:G 18 31524877 A G 18:29104840 0.994818 0.00142901 2 523 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Von Willebrand disease 4.26e-05 15.2742 3.7319 DSG2 rs193922639 18:31531146:G:A 18 31531146 G A 18:29111109 0.952979 572 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ulcer of lower limb, not elsewhere classified 0.00117 1.9244 0.5929 DSG2 rs79241126 18:31542655:G:A 18 31542655 G A 18:29122618 0.999279 32476 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arrhythmogenic right ventricular cardiomyopathy;Cardiovascular phenotype;not provided;not specified Diffuse brain injury 0.000118 0.4208 0.1093 Diffuse brain injury 3.099e-05 1.127 0.27 TTR rs138657343 18:31591916:G:A 18 31591916 G A 18:29171879 0.859555 120 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified disorders of vitreous body 0.00224 2.1492 0.7031 TTR rs1800458 18:31592902:G:A 18 31592902 G A 18:29172865 0.99059 0.0954631 3420 31652 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;TRANSTHYRETIN POLYMORPHISM;not provided;not specified Diffuse brain injury 7.64e-05 0.4409 0.1115 Diffuse brain injury 0.0001652 1.034 0.275 TTR rs28933981 18:31598647:C:T 18 31598647 C T 18:29178610 0.970593 0.000555271 0 204 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Pituitary gland, craniopharyngeal duct (other cancers excluded from controls) 1.33e-05 8.8315 2.0281 ASXL3 rs201072457 18:33745021:G:A 18 33745021 G A 18:31324985 0.996531 0.000713143 0 262 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory disease of cervix uteri 4.55e-05 4.6285 1.1351 ASXL3 rs144534810 18:33746048:T:G 18 33746048 T G 18:31326012 0.90346 481 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Visual field defects 0.000653 2.6833 0.7872 Cardiomyopathy, Hypertrophic obstructive 0.0001864 408.98 109.448 DTNA rs148123045 18:34820914:G:A 18 34820914 G A 18:32400878 0.973941 0.00477697 14 1741 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Left ventricular noncompaction 1;not provided;not specified Coronary revascularization (ANGIO or CABG) 3.84e-05 -0.554 0.1346 Tongue abnormality 6.784e-05 34.377 8.629 DTNA rs9944927 18:34890327:G:A 18 34890327 G A 18:32470291 0.998522 54912 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Certain infectious and parasitic diseases 0.000377 -0.0359 0.0101 Radiculopathy 0.0009706 0.193 0.058 ELP2 rs140841474 18:36142958:A:G 18 36142958 A G 18:33722921 0.981364 0.00506277 8 1852 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes mellitus in pregnancy 2.29e-05 0.7224 0.1706 Cardiac arrhytmias, COPD co-morbidities 0.0001001 2.168 0.557 ELP2 rs149870655 18:36156527:T:C 18 36156527 T C 18:33736490 0.975415 0.00550372 16 2006 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes mellitus in pregnancy 7.47e-06 0.7341 0.1639 Foreign body in respiratory tract 6.167e-05 36.434 9.094 ELP2 rs117536068 18:36158842:G:C 18 36158842 G C 18:33738805 0.997044 1215 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dissection of aorta 0.0013 2.5129 0.7813 Disorders of oesophagus in diseases classified elsewhere 0.0003481 208.752 58.366 ELP2 rs35629953 18:36174556:C:T 18 36174556 C T 18:33754519 0.926485 751 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of shoulder and upper arm 0.001 0.8375 0.2545 MOCOS rs116981654 18:36195332:T:C 18 36195332 T C 18:33775295 0.991966 0.0032418 2 1189 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Inflammatory disorders of male genital organs, not elsewhere classified 1.18e-05 6.6838 1.5256 MOCOS rs150556770 18:36199895:C:T 18 36199895 C T 18:33779858 0.985634 541 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected abnormality of pelvic organs 0.000165 1.4831 0.3937 FHOD3 rs149677982 18:36625558:C:A 18 36625558 C A 18:34205521 0.984204 0.0024089 2 883 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified tonssillitis 6.1e-05 0.8588 0.2142 FHOD3 rs151313792 18:36681510:G:A 18 36681510 G A 18:34261473 0.89341 305 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyrotoxicosis 0.00115 1.7836 0.5486 SETBP1 rs663651 18:44876688:G:A 18 44876688 G A 18:42456653 0.997643 0.583579 124970 89430 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Acute laryngitis and tracheitis 2.02e-05 -0.1548 0.0363 Idiopathic urticaria 0.0006757 -0.283 0.083 SETBP1 rs3085861 18:44876705:C:CTCTT 18 44876705 C CTCTT 18:42456670 0.997565 0.583492 124912 89456 LC dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute laryngitis and tracheitis 2.56e-05 -0.1529 0.0363 Idiopathic urticaria 0.0006856 -0.282 0.083 SETBP1 rs11082414 18:44950031:G:C 18 44950031 G C 18:42529996 0.988329 61793 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Female infertility 0.00108 -0.084 0.0257 Female infertility 0.0008957 -0.117 0.035 SETBP1 rs149162154 18:44952639:A:G 18 44952639 A G 18:42532604 0.981306 0.000356571 0 131 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Blood alcohol or alcohol intoxication level 4.95e-06 24.8048 5.4314 SETBP1 rs3744825 18:44952641:G:A 18 44952641 G A 18:42532606 0.990138 41528 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of choroid 0.000333 0.6342 0.1767 Dizziness and giddiness 0.0003806 -0.133 0.037 SETBP1 rs1064204 18:44952728:C:A 18 44952728 C A 18:42532693 0.995782 25474 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schinzel-Giedion syndrome;not provided;not specified Juvenile osteochondrosis 0.000596 -0.4726 0.1377 Crohn disease 0.0002161 0.7 0.189 SETBP1 rs77518617 18:45038613:G:C 18 45038613 G C 18:42618578 0.969534 0.00226191 2 829 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other pulmonary heart/vessel disease 1.79e-05 4.6852 1.0922 SETBP1 rs117498128 18:45063305:G:T 18 45063305 G T 18:42643270 0.977609 1477 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Schinzel-Giedion syndrome Other noninflammatory disorders of vagina 0.000531 1.4653 0.4229 Injury of nerves and spinal cord at neck level 0.001106 76.359 23.409 SLC14A1 rs1058396 18:45739554:G:A 18 45739554 G A 18:43319519 0.999974 91827 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Subacute thyroiditis 0.000856 -0.2639 0.0792 Influenza and pneumonia 0.0006181 -0.029 0.008 SLC14A1 rs78242949 18:45739587:T:C 18 45739587 T C 18:43319552 0.9986 5777 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Jk-null variant, finnish type Benign neoplasm: Duodenum (other cancers excluded from controls) 0.00104 1.3174 0.4018 Other disorders of binocular movement 0.001122 10.258 3.149 EPG5 rs199602966 18:45858627:A:C 18 45858627 A C 18:43438592 0.998387 534 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin of ear and external auricular canal 0.000234 4.1603 1.1307 EPG5 rs201213000 18:45860268:A:G 18 45860268 A G 18:43440233 0.906348 210 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Suppurative otitis media, unspecified 0.000358 8.5099 2.384 EPG5 rs148241618 18:45880124:T:A 18 45880124 T A 18:43460089 0.879207 111 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Single spontaneous delivery 0.000128 1.3105 0.3422 EPG5 rs1893523 18:45901110:G:A 18 45901110 G A 18:43481075 0.999064 0.219629 17996 62693 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other headache syndromes 9.72e-05 -0.0882 0.0226 Other headache syndromes 0.0001109 -0.118 0.031 EPG5 rs144860976 18:45910687:T:G 18 45910687 T G 18:43490652 0.985372 0.00708515 46 2557 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inborn genetic diseases;Vici syndrome;not provided Asthma (only as main-diagnosis) (more controls excluded) 9.25e-05 0.3165 0.0809 Other and unspecified disorders of skin and subcutaneous tissue 0.0005022 14.643 4.208 EPG5 rs78339727 18:45916574:G:A 18 45916574 G A 18:43496539 0.988288 14428 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vici syndrome Special screening examination for infectious and parasitic diseases 0.00201 0.1663 0.0538 Problems related to housing and economic circumstances 0.0002423 7.855 2.14 EPG5 rs3744998 18:45917745:A:G 18 45917745 A G 18:43497710 0.999925 90901 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of blood and blood-forming organs 0.000189 -0.1147 0.0307 Other or ill-defined heart diseases 0.0002707 -0.168 0.046 EPG5 rs3744999 18:45928890:C:G 18 45928890 C G 18:43508856 0.990788 16146 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hammer toe(s) (acquired) 0.000466 0.2536 0.0725 Problems related to housing and economic circumstances 0.0006252 5.728 1.675 EPG5 rs117817123 18:45951220:C:T 18 45951220 C T 18:43531186 0.98886 1765 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vici syndrome Complications of other internal prosthetic devices, implants and grafts 0.00153 2.4562 0.7751 Perforation of tympanic membrane 5.92e-05 11.579 2.883 EPG5 rs180913079 18:45954602:G:A 18 45954602 G A 18:43534568 0.998594 1880 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Carcinoma in situ of skin of lower limb, including hip (other cancers excluded from controls) 0.00179 3.9417 1.2622 Other assisted single delivery 0.0006465 120.99 35.467 EPG5 rs59422275 18:45954858:T:C 18 45954858 T C 18:43534824 0.995455 17426 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: other/unspecified salivary gland 0.00118 0.6124 0.1888 Secondary and unspecified malignant neoplasm of lymph nodes 0.0002717 1.501 0.412 EPG5 rs200530606 18:45955103:G:A 18 45955103 G A 18:43535069 0.999988 840 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign lipomatous neoplasm (other cancers excluded from controls) 0.00163 0.7842 0.2489 ATP5A1 rs77958705 18:46088241:T:C 18 46088241 T C 18:43668207 0.992254 0.0028444 2 1043 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fistulae involving female genital tract 2.81e-05 6.1382 1.4655 LOXHD1 rs74316327 18:46477710:C:T 18 46477710 C T 18:44057673 0.993626 9337 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified ILD differential diagnosis 0.000959 -0.074 0.0224 Psoriatic arthropathies 0.0002648 3.111 0.853 LOXHD1 rs1377016 18:46483635:G:A 18 46483635 G A 18:44063598 0.997361 84104 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter DVT of lower extremities and pulmonary embolism 0.000214 -0.0747 0.0202 Pulmonary heart disease 0.0007358 -0.097 0.029 LOXHD1 rs61733519 18:46505914:G:T 18 46505914 G T 18:44085877 0.9952 807 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type of accident 0.00235 4.8016 1.5786 LOXHD1 rs12606417 18:46524474:T:C 18 46524474 T C 18:44104437 0.998793 17935 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Bipolar affective disorders 0.000594 0.2197 0.064 Arthropathies 6.122e-05 0.218 0.054 LOXHD1 rs187587197 18:46529181:C:T 18 46529181 C T 18:44109144 0.998327 17356 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal recessive 77;not provided;not specified Other and unspecified abdominal hernia 0.00342 0.4785 0.1634 Adult respiratory distress syndrome 0.0008666 5.149 1.546 LOXHD1 rs201587138 18:46529227:G:A 18 46529227 G A 18:44109190 0.990262 202 pLoF recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Shoulder lesions 0.00127 -0.92 0.2854 LOXHD1 rs146739496 18:46533320:G:A 18 46533320 G A 18:44113283 0.879504 74 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of the musculoskeletal system, not elsewhere classified 0.000227 41.5742 11.2758 LOXHD1 rs200792636 18:46541815:G:A 18 46541815 G A 18:44121778 0.987106 251 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Sacroiliitis, not elsewhere classified 0.000295 6.3911 1.7656 Benign lipomatous neoplasm of other sites/unspecified 7.849e-05 52.995 13.42 LOXHD1 rs1893566 18:46546946:T:C 18 46546946 T C 18:44126909 0.989427 64557 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other extrapyramidal and movement disorders+ in other diseases 0.00206 -0.1311 0.0425 0.0006196 -0.207 0.06 LOXHD1 rs118174674 18:46557437:C:T 18 46557437 C T 18:44137400 0.950973 3469 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Sequelae of injuries, of poisoning and of other consequences of external causes 0.000704 -0.4721 0.1394 Diseases of the ear and mastoid process 0.0001599 1.211 0.321 LOXHD1 rs561687256 18:46560252:C:CGAGGACTCCTCTGATGAG 18 46560252 C CGAGGACTCCTCTGATGAG 18:44140215 0.942772 301 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mixed specific developmental disorders 0.000309 13.3491 3.7006 LOXHD1 rs142960762 18:46560316:CTCT:C 18 46560316 CTCT C 18:44140279 0.967141 2262 inframe_indel recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal recessive 77;not specified Behavioural syndromes associated with physiological disturbances and physical factors 0.001 -0.5392 0.1639 Sleep apnoea 0.0004214 3.122 0.885 LOXHD1 rs36086089 18:46563190:C:T 18 46563190 C T 18:44143153 0.99834 30739 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Special screening examination for infectious and parasitic diseases 0.000391 -0.1315 0.0371 Premature rupture of membranes 0.0001857 0.472 0.126 LOXHD1 rs35088381 18:46577783:C:A 18 46577783 C A 18:44157746 0.987409 2135 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Malignant neoplasm of colon (other cancers excluded from controls) 0.00181 0.7677 0.246 Non-small cell lung cancer, squamous (other cancers excluded from controls) 0.0003883 188.445 53.114 LOXHD1 rs34589386 18:46577801:C:A 18 46577801 C A 18:44157764 0.988757 2136 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Malignant neoplasm of colon (other cancers excluded from controls) 0.00182 0.7664 0.2459 Non-small cell lung cancer, squamous (other cancers excluded from controls) 0.0003883 188.445 53.114 LOXHD1 rs10163657 18:46601264:C:T 18 46601264 C T 18:44181227 0.992486 19421 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Parapsoriasis 0.000694 0.774 0.2282 Specific development disorders of speech and language 0.0004465 1.542 0.439 LOXHD1 rs199536893 18:46649203:G:C 18 46649203 G C 18:44229166 0.927588 0.000819297 0 301 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Interstitial lung disease endpoints 2.29e-05 0.9531 0.2251 LOXHD1 rs36024592 18:46657032:A:T 18 46657032 A T 18:44236995 0.980898 8586 start_lost recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal recessive 77;not specified Fever of other and unknown origin 0.000331 0.2048 0.0571 Osteoporosis 0.0003889 1.604 0.452 PIAS2 rs117151539 18:46812480:T:C 18 46812480 T C 18:44392443 0.990761 0.00662515 14 2420 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of forearm 8.26e-05 -0.4238 0.1077 CR(E)ST syndrome 0.0004282 197.419 56.052 KATNAL2 rs7233515 18:47059584:G:A 18 47059584 G A 18:44585955 0.999915 85234 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Salphingitis and oophoritis 0.000466 0.1025 0.0293 1.223e-05 0.049 0.011 SMAD7 rs144204026 18:48950310:C:T 18 48950310 C T 18:46476680 0.90069 786 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Special screening examination for other diseases and disorders 0.00074 1.5017 0.445 DYM rs147724274 18:49282142:G:T 18 49282142 G T 18:46808512 0.997126 540 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of other connective and soft tissue (other cancers excluded from controls) 0.00166 5.3564 1.7027 MYO5B rs112417235 18:49837593:T:C 18 49837593 T C 18:47363963 0.986599 0.035717 506 12616 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diarrhea with Microvillus Atrophy Iridocyclitis in diseases classified elsewhere 2.08e-05 1.4906 0.3502 Other specified/unspecified disorders of bone/cartilage 0.0006163 3.578 1.045 MYO5B rs145598498 18:49853525:G:A 18 49853525 G A 18:47379895 0.996178 0.00192712 2 706 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Schizophrenia 7.57e-05 1.7503 0.4423 MYO5B rs1942418 18:49856873:C:T 18 49856873 C T 18:47383243 0.998024 0.0566349 1214 19593 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diarrhea with Microvillus Atrophy;not specified Hypertrophy of (infrapatellar) fat pad 7.12e-06 1.481 0.3298 Other systemic involvement of connective tissue 0.000337 0.605 0.169 MYO5B rs200219597 18:49879055:T:TGAG 18 49879055 T TGAG 18:47405425 0.998743 84169 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinal vein occlusion (central or branch) 0.000191 0.3291 0.0882 Retinal vein occlusion (central or branch) 7.802e-05 0.365 0.092 MYO5B rs201592338 18:49894955:C:T 18 49894955 C T 18:47421325 0.992232 1701 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diarrhea with Microvillus Atrophy Dermatitis herpetiformis 0.0024 2.5179 0.8293 Persons with potential health hazards related to family and personal history and certain conditions influencing health status 0.0008203 2.333 0.697 MYO5B rs2298624 18:49902652:C:T 18 49902652 C T 18:47429022 0.998873 0.172447 10842 52513 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecidied mood [affective] disorders 4.69e-05 0.2579 0.0634 Benign neoplasm: Skin, unspecified 0.0003313 0.552 0.154 MYO5B rs192207329 18:49912139:C:T 18 49912139 C T 18:47438509 0.997054 6372 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Other retinal artery occlusion 0.00136 1.2875 0.4021 Systemic atrophies primarly affecting the central nervous system 5.296e-05 12.656 3.131 MYO5B rs201670299 18:49912141:C:T 18 49912141 C T 18:47438511 0.997616 1284 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to life-management difficulty 0.000873 1.2876 0.3868 Nontraumatic intracranial haemmorrhage 9.271e-05 24.274 6.21 MYO5B rs189027956 18:49980469:C:T 18 49980469 C T 18:47506839 0.94055 61 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Asthma and allergy (more controls excluded) 0.000154 6.7285 1.7782 MYO5B rs17659179 18:49984743:C:A 18 49984743 C A 18:47511113 0.997241 19835 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diarrhea with Microvillus Atrophy;not specified Atopic dermatitis, strict definition with reimbursement 0.000511 -0.1731 0.0498 0.0009907 -0.163 0.049 MYO5B rs78626055 18:50040277:A:G 18 50040277 A G 18:47566647 0.975981 11823 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diarrhea with Microvillus Atrophy Burn and corrosion of head and neck 0.000704 0.9407 0.2776 Pain, not elsewhere classified 0.0001361 1.417 0.371 MYO5B rs141998504 18:50040308:C:G 18 50040308 C G 18:47566678 0.998513 10759 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diarrhea with Microvillus Atrophy Crohn's disease of large intestine 0.000662 0.5895 0.1731 Other and unspecified urticaria 0.0001534 1.464 0.387 CFAP53 rs35193847 18:50250874:C:T 18 50250874 C T 18:47777244 0.995769 87389 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the hip and thigh 0.000743 0.0669 0.0198 Benign lipomatous neoplasm of skin and subcutaneous tissue of trunk (other cancers excluded from controls) 0.0006454 -0.127 0.037 CFAP53 rs12607385 18:50251567:G:A 18 50251567 G A 18:47777937 0.991652 11151 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Postmenopausal osteoporosis with pathological fracture 0.000494 0.68 0.1952 Benign neoplasm: Descending colon 0.001119 2.999 0.92 CFAP53 rs138848935 18:50251764:C:T 18 50251764 C T 18:47778134 0.996485 433 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Personality and behavioural disorders due to brain disease, damage and dysfunction 0.000318 8.5793 2.3829 MEX3C rs760765858 18:51196775:CGCCGCCGCG:C 18 51196775 CGCCGCCGCG C 18:48723145 0.998188 0.445744 73358 90403 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of hip and lower limb, except ankle and foot 5.16e-05 0.419 0.1035 Burn and corrosion of hip and lower limb, except ankle and foot 0.0004799 0.32 0.092 DCC rs2229080 18:52906232:C:G 18 52906232 C G 18:50432602 0.997066 87219 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Wide developmental disorders (more controls excluded) 0.00106 0.3323 0.1015 Other pleural conditions 0.0004615 0.166 0.047 DCC rs144623089 18:53066161:A:G 18 53066161 A G 18:50592531 0.973417 932 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma-related infections 0.00038 0.2773 0.078 DCC rs141813053 18:53157503:G:A 18 53157503 G A 18:50683873 0.981151 0.00252594 4 924 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Bacterial pneumonia, not elsewhere classified 6.06e-06 0.9632 0.2129 DCC rs35691189 18:53322098:A:G 18 53322098 A G 18:50848468 0.975633 950 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Mirror movements 1 severe traumatic brain injury, does not include concussion 0.000875 1.0507 0.3157 Other disorders of choroid 0.0004201 171.201 48.538 TCF4 rs202025804 18:55232581:G:A 18 55232581 G A 18:52899812 0.995175 0.00258038 6 942 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pitt-Hopkins syndrome Any mental disorder, or suicide (or attempt), or psychic disorders complicating pregnancy, partum or puerperum or nerve system disorders 6.59e-05 -0.351 0.088 Other renal tubulo-interstitial diseases 0.0002878 251.597 69.386 TCF4 rs147445499 18:55261512:G:A 18 55261512 G A 18:52928743 0.986468 201 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autoimmune thyroiditis 0.000375 15.0514 4.2316 TCF4 rs17522826 18:55403683:G:A 18 55403683 G A 18:53070914 0.99638 57532 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the digestive system and abdomen 0.000732 0.0334 0.0099 Congenital malformations of the musculoskeletal system, not elsewhere classified 0.00023 0.976 0.265 FECH rs118204037 18:57559148:C:T 18 57559148 C T 18:55226380 0.982643 555 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Erythropoietic protoporphyria Intracranial trauma 0.00143 0.6052 0.1897 Arthropod-borne viral fevers and viral haemorrhagic fevers 0.004622 20.391 7.2 FECH rs1041951 18:57573273:C:T 18 57573273 C T 18:55240505 0.997425 34737 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Reactive arthropathies 0.000532 0.2389 0.069 Essential (haemorrhagic) thrombocythaemia 0.0001744 1.306 0.348 FECH rs3848519 18:57580104:C:A 18 57580104 C A 18:55247336 0.993192 0.0163968 120 5904 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Erythropoietic protoporphyria;not specified Benign neoplasm: Connective and other soft tissue of lower limb, including hip (other cancers excluded from controls) 8.71e-05 1.4968 0.3815 All influenza 0.000227 2.485 0.674 ATP8B1 rs12968116 18:57655270:C:T 18 57655270 C T 18:55322502 0.998043 37569 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deficiency of other B group vitamins 0.000623 -0.5053 0.1477 Diaphragmatic hernia 0.0001164 0.258 0.067 ATP8B1 rs34315917 18:57691850:T:C 18 57691850 T C 18:55359082 0.918792 305 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Gastric ulcer 0.00115 1.9884 0.6117 ATP8B1 rs193204986 18:57691955:C:T 18 57691955 C T 18:55359187 0.977237 1754 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial Intrahepatic Cholestasis;not specified Shoulder lesions 0.00054 0.3235 0.0935 Tibial collateral bursitis [Pellegrini-Stieda] 0.002219 43.502 14.22 ATP8B1 rs140577068 18:57706585:A:G 18 57706585 A G 18:55373817 0.937442 0.00109149 2 399 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Abscess of lung 4.59e-05 15.0164 3.6845 ATP8B1 rs146599962 18:57731674:T:G 18 57731674 T G 18:55398906 0.991149 2732 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Disorders of vitreous body 0.000656 0.3955 0.1161 Granuloma annulare 0.001805 51.737 16.579 NEDD4L rs201307997 18:58044673:C:T 18 58044673 C T 18:55711905 0.878657 0.000440951 2 160 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydrocele 7.43e-06 5.2258 1.1662 NEDD4L rs4149601 18:58149559:G:A 18 58149559 G A 18:55816791 0.99972 0.307095 34704 78119 LC dominant drug response drug response reviewed by expert panel Criteria_multSubmitter Multiple delivery 9.3e-05 -0.2436 0.0623 Multiple delivery 0.0002449 -0.261 0.071 NEDD4L rs200025824 18:58245467:A:G 18 58245467 A G 18:55912699 0.990048 362 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of lacrimal system and orbit in diseases classified elsewhere 0.000161 7.2325 1.917 NEDD4L rs185533207 18:58325017:T:A 18 58325017 T A 18:55992249 0.965742 557 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diffuse large B-cell lymphoma 0.000793 6.8064 2.0286 Adverse effects, not elsewhere classified 0.0004242 29.345 8.326 NEDD4L rs202231187 18:58329012:C:T 18 58329012 C T 18:55996244 0.992983 1992 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other diseases of pancreas 0.00103 1.4609 0.4453 Benign neoplasm: Peripheral nerves and autonomic nervous system 0.000469 163.984 46.881 NEDD4L rs200221331 18:58342931:G:A 18 58342931 G A 18:56010163 0.996785 557 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Radiculopathy 0.000159 1.575 0.417 ALPK2 rs34823643 18:58517111:G:A 18 58517111 G A 18:56184343 0.96864 4446 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gout, strict definition 0.000649 0.6741 0.1977 Abnormal findings on diagnostic imaging of lung 9.872e-05 2.805 0.72 MALT1 rs74847855 18:58700591:A:G 18 58700591 A G 18:56367823 0.998341 12547 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 12 Hyperkinetic disorders (more controls excluded) 0.000939 0.5937 0.1795 Lichen simplex chronicus 0.0006585 3.501 1.028 MALT1 rs149988025 18:58709405:A:G 18 58709405 A G 18:56376637 0.984364 300 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving speech and voice 0.000187 1.7247 0.4617 MALT1 rs141329024 18:58747562:T:C 18 58747562 T C 18:56414794 0.992461 0.000802966 4 291 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other specified disorders of external ear 7.34e-05 6.4617 1.6296 Focal epilepsy 0.0004733 159.257 45.561 ZNF532 rs147848756 18:58918787:C:T 18 58918787 C T 18:56586019 0.996701 5914 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pure hyperglyceridaemia 0.000353 1.7388 0.4867 Abnormal spermatozoa 2.174e-05 7.269 1.712 GRP rs55796466 18:59225682:G:T 18 59225682 G T 18:56892914 0.9744 441 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diplopia 0.000616 2.2733 0.6638 RAX rs536765190 18:59273010:C:G 18 59273010 C G 18:56940242 0.957449 904 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Other congenital malformations of ear 0.000446 5.6112 1.5981 Presence of cardiac and vascular implants and grafts 0.0004615 20.745 5.923 RAX rs2271733 18:59273075:G:T 18 59273075 G T 18:56940307 0.995077 61872 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of breast 0.00028 -0.5405 0.1488 Benign neoplasm: Tongue 0.001163 0.483 0.149 LMAN1 rs2298711 18:59333237:T:A 18 59333237 T A 18:57000469 0.990358 39253 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinal osteochondrosis 0.000649 0.6471 0.1897 Benign neoplasm: Bronchus and lung 9.627e-05 2.087 0.535 LMAN1 rs33926449 18:59359129:A:G 18 59359129 A G 18:57026361 0.995703 13624 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Combined deficiency of factor V and factor VIII, 1;not specified Superficial injury of head 0.00149 0.2591 0.0816 Complications of the puerperium, not elsewhere classified 0.0008401 3.246 0.972 LMAN1 rs1043302 18:59359204:C:T 18 59359204 C T 18:57026436 0.98585 31622 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Combined deficiency of factor V and factor VIII, 1 Burn and corrosion of shoulder and upper limb, except wrist and hand 0.000242 0.6748 0.1838 Gonarthrosis [arthrosis of knee](FG) 0.001093 0.159 0.049 CCBE1 rs121908253 18:59466820:G:A 18 59466820 G A 18:57134052 0.920976 0.000884623 0 325 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Myositis 1.74e-07 14.7419 2.8214 MC4R rs52820871 18:60371599:T:G 18 60371599 T G 18:58038832 0.974749 3513 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monogenic diabetes;Obesity;not provided;not specified Fracture of lower leg, including ankle 0.000419 0.2933 0.0831 Type 2 diabetes, strict (exclude DM1) 0.0002515 1.479 0.404 MC4R rs193922686 18:60371673:A:G 18 60371673 A G 18:58038906 0.964827 763 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Obesity Conduction disorders 0.00104 0.9991 0.3047 Disorders resulting from impaired renal tubular function 0.0005423 144.379 41.741 MC4R rs13447329 18:60372015:G:A 18 60372015 G A 18:58039248 0.993286 703 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of eye, ear, face and neck 0.000928 2.1706 0.6555 Nonischemic cardiomyopathy 0.001822 47.17 15.129 MC4R rs2229616 18:60372043:C:T 18 60372043 C T 18:58039276 0.990643 4960 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monogenic diabetes;Obesity Lack of expected normal physiological development 0.000234 1.661 0.4515 Other and unspecified disorders of white blood cells 0.001083 10.369 3.173 PIGN rs201397391 18:62045869:C:T 18 62045869 C T 18:59713102 0.994552 3009 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter History of neurodevelopmental disorder;Multiple congenital anomalies-hypotonia-seizures syndrome 1 Trigeminal neuralgia 0.000186 1.3106 0.3507 Other and unspecified disorders of skin and subcutaneous tissue 0.001354 9.061 2.828 PIGN rs34231046 18:62045940:A:C 18 62045940 A C 18:59713173 0.981636 2949 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Multiple congenital anomalies-hypotonia-seizures syndrome 1;not provided Acquired absence of organs, not elsewhere classified 0.000537 3.5297 1.0197 Fracture of skull and facial bones 0.000254 7.397 2.022 PIGN rs3862712 18:62113160:T:A 18 62113160 T A 18:59780393 0.995842 26055 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neuralgia and neuritis, unspecified 0.000268 0.4394 0.1206 Congenital malformations of the respiratory system 0.0001402 2.836 0.745 PIGN rs9320001 18:62147091:G:C 18 62147091 G C 18:59814324 0.997564 69413 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alogoneurodystrophy 0.000274 0.3306 0.0909 Seborrhoeic dermatitis 0.0003934 -0.116 0.033 PIGN rs17069506 18:62154610:T:C 18 62154610 T C 18:59821843 0.996724 0.034043 484 12023 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;not specified Pain in limb 6.51e-05 0.1753 0.0439 Chronic hepatitis, not elsewhere classified 3.709e-05 5.007 1.214 PIGN rs200756305 18:62157207:C:G 18 62157207 C G 18:59824440 0.986086 206 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other papulosquamous disorders 0.00206 15.382 4.9929 PIGN rs61755362 18:62161187:G:A 18 62161187 G A 18:59828420 0.996343 16118 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Multiple congenital anomalies-hypotonia-seizures syndrome 1;not specified Benign neoplasm: Parotid gland 0.000157 0.4865 0.1287 Orchitis and epididymitis 0.000645 1.442 0.423 TNFRSF11A rs35211496 18:62354528:C:T 18 62354528 C T 18:60021761 0.989939 39019 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Volume depletion 0.000989 -0.2617 0.0795 Other and unspecified injuries of abdomen, lower back and pelvis 0.001072 1.514 0.463 TNFRSF11A rs1805034 18:62360008:C:T 18 62360008 C T 18:60027241 0.999997 0.531523 103748 91527 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic hepatitis, not elsewhere classified 8.59e-05 0.2937 0.0748 Childhood allergy (age < 16) 0.0001097 -0.106 0.027 TNFRSF11A rs201402594 18:62369196:G:A 18 62369196 G A 18:60036429 0.99532 317 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Human immunodeficiency virus [HIV] disease 0.000517 7.4243 2.1385 TNFRSF11A rs61751992 18:62369436:G:A 18 62369436 G A 18:60036669 0.998268 7243 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteopetrosis;Paget disease of bone Chlocystitis 0.000404 0.4661 0.1318 Acute mastoiditis 0.0001265 28.654 7.475 TNFRSF11A rs117028614 18:62384801:A:G 18 62384801 A G 18:60052034 0.96438 171 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments at neck level 0.000184 3.973 1.0624 SERPINB3 rs12953909 18:63655746:C:T 18 63655746 C T 18:61322980 0.946562 1384 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kela-code for behavioural disturbances in mental retardation 0.000282 6.247 1.7205 4.62e-05 2.729 0.67 SERPINB3 rs73962331 18:63655764:G:A 18 63655764 G A 18:61322998 0.985994 1689 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified lump in breast 0.00096 0.8108 0.2456 Diabetic maculopathy 9.598e-05 20.939 5.368 SERPINB7 rs201208667 18:63804628:G:A 18 63804628 G A 18:61471862 0.997717 0.00625497 14 2284 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis, strict definition 2.93e-06 0.7259 0.1553 Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.0001436 2.959 0.778 SERPINB2 rs138183373 18:63895334:G:A 18 63895334 G A 18:61562568 0.986581 725 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspcified rosacea 0.000685 2.2788 0.6711 Lateral epicondylitis 0.004444 21.922 7.706 SERPINB2 rs6100 18:63902411:G:A 18 63902411 G A 18:61569645 0.989131 1308 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behabioural disorders of puerperum, not classified elsewhere 0.000894 4.1505 1.2494 Cystic kidney disease 0.0002835 200.666 55.281 CDH19 rs146495985 18:66544208:T:G 18 66544208 T G 18:64211445 0.977275 930 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Total colectomy operation 0.000486 3.0913 0.8862 Other and unspecified paralytic syndromes 0.0008108 101.423 30.284 DSEL rs118048833 18:67511785:G:A 18 67511785 G A 18:65179022 0.981984 1977 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic diseases of tonsils and adenoids 0.000366 0.2912 0.0817 Other diseases of pericardium 0.001928 48.197 15.542 DSEL rs12953840 18:67512420:T:C 18 67512420 T C 18:65179657 0.843013 2203 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hepatomegaly and splenomegaly, not elsewhere classified 0.00134 3.614 1.1269 Other nutritional anaemias 0.0004104 175.102 49.557 RTTN rs34989098 18:70006461:C:T 18 70006461 C T 18:67673697 0.965064 3458 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Microcephaly, short stature, and polymicrogyria with or without seizures;not provided;not specified Paraplegia, diplegia of upper limbs 0.000246 2.0806 0.5674 Pure hypercholesterolaemia 0.0002813 2.776 0.764 RTTN rs145976466 18:70020730:C:A 18 70020730 C A 18:67687966 0.988609 646 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dystonia 0.000397 3.2095 0.9061 RTTN rs4891392 18:70051452:A:G 18 70051452 A G 18:67718688 0.999765 14085 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melanocytic naevi of lower limb, including hip 0.000465 -0.6746 0.1927 Other/unspecified dorsalgia 0.0004017 0.09 0.025 RTTN rs34717557 18:70054256:G:C 18 70054256 G C 18:67721492 0.999082 6568 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Paralytic ileus 0.000496 0.9893 0.2841 Non-small cell lung cancer, adenocarcinoma 0.0005157 6.084 1.752 RTTN rs62089120 18:70088098:G:A 18 70088098 G A 18:67755334 0.929917 228 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of eyelid in diseases classified elsewhere 0.000345 8.4821 2.3699 RTTN rs117774280 18:70127547:C:T 18 70127547 C T 18:67794783 0.976806 0.000881901 0 324 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injury of nerves and spinal cord at neck level 8.72e-05 12.2978 3.1342 RTTN rs145832674 18:70135265:T:C 18 70135265 T C 18:67802501 0.885133 222 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylopathies 0.00119 -1.0307 0.3179 RTTN rs35424122 18:70148955:G:A 18 70148955 G A 18:67816191 0.980165 0.000685923 2 250 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Ischaemic Stroke, excluding all haemorrhages 6.34e-05 1.3851 0.3463 RTTN rs117502718 18:70166070:T:C 18 70166070 T C 18:67833306 0.999019 2885 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Amenorrhoea 0.000728 0.9716 0.2876 Other specified/unspecified necrotizing vasculopathies 0.0005182 151.276 43.581 RTTN rs34353615 18:70168879:G:T 18 70168879 G T 18:67836115 0.999599 6715 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Paralytic ileus 0.000615 0.9617 0.2808 Other disorders of lacrimal gland 0.0002688 1.969 0.54 RTTN rs12956068 18:70197682:T:G 18 70197682 T G 18:67864918 0.990135 2239 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Varus deformity, not elsewhere classified 0.000728 3.3124 0.9803 Postmenopausal bleeding 1.794e-05 6.416 1.496 RTTN rs3911730 18:70204107:A:C 18 70204107 A C 18:67871343 0.989339 29518 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other/unspecified dorsalgia 0.000721 0.1154 0.0341 Other/unspecified dorsalgia 0.0001988 0.068 0.018 NETO1 rs146855996 18:72865236:C:T 18 72865236 C T 18:70532471 0.976826 4983 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otosclerosis 0.000139 0.7555 0.1983 Burn and corrosion of ankle and foot 0.0001777 23.373 6.235 CNDP2 rs151185140 18:74501372:C:T 18 74501372 C T 18:72168607 0.909406 0.00474702 12 1732 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Third [oculomotor] nerve palsy 5.72e-05 4.4573 1.1077 Chronic lymphocytic leukaemia 0.0004962 144.317 41.437 CNDP1 rs140836083 18:74567390:C:T 18 74567390 C T 18:72234625 0.975078 965 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Panic disorder 0.000278 1.3111 0.3607 Other/unspecified cytomegaloviral diseases 0.0003916 166.306 46.904 ZNF407 rs75994611 18:74631200:A:G 18 74631200 A G 18:72343156 0.950561 4603 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diabetic background retinopathy 0.000505 0.5886 0.1692 Contact with and exposure to communicable diseases 0.003556 5.689 1.952 ZNF407 rs3794942 18:74631225:A:G 18 74631225 A G 18:72343181 0.996155 16223 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Other joint disorders 0.000144 -0.0856 0.0225 Malignant neoplasm of small intestine 0.0007955 3.323 0.991 ZNF407 rs200158544 18:74631446:G:T 18 74631446 G T 18:72343402 0.982112 0.0072893 16 2662 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hypokalaemia 5.05e-05 1.1788 0.2908 Vascular dementia (subcortical) 0.0003428 199.556 55.732 ZNF407 rs7227263 18:74632553:G:A 18 74632553 G A 18:72344509 0.99515 33607 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Benign neoplasm: Adrenal gland 0.00041 -0.3683 0.1042 Primary gonarthrosis, bilateral 7.422e-06 0.308 0.069 ZNF407 rs948615 18:74633934:A:C 18 74633934 A C 18:72345890 0.991951 0.112889 4892 36582 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Alzheimer's disease, wide definition (more controls excluded) 8.02e-05 -0.163 0.0413 Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.0003366 0.618 0.172 ZNF407 rs150419019 18:75063728:G:A 18 75063728 G A 18:72775684 0.9535 8783 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Isolated proteinuria with specified morphological lesion 0.000322 0.9973 0.2772 Injury of unspecified body region 0.0003827 4.612 1.298 TSHZ1 rs145008445 18:75286575:G:A 18 75286575 G A 18:72998530 0.954258 175 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular cyst 0.00141 18.2844 5.7277 TSHZ1 rs33930274 18:75286944:G:A 18 75286944 G A 18:72998899 0.996249 0.0226382 208 8109 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aural atresia, congenital Inflammatory disease of uterus 7.74e-05 0.4668 0.1181 Optic neuritis 0.000755 5.349 1.588 TSHZ1 rs55679337 18:75287404:T:C 18 75287404 T C 18:72999359 0.99716 77968 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydrocephalus 0.000267 -0.2473 0.0678 0.0003864 -0.03 0.009 TSHZ1 rs199676563 18:75287805:C:T 18 75287805 C T 18:72999760 0.966126 145 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sacrococcygeal disorders, not elsewhere classified 0.000123 11.0326 2.8729 TSHZ1 rs150180967 18:75288133:G:A 18 75288133 G A 18:73000088 0.994294 464 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism, drug reimbursement 0.000257 1.1738 0.3211 ZNF236 rs139451924 18:76880165:C:T 18 76880165 C T 18:74592121 0.981665 463 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Convalescence 0.000435 3.655 1.039 ZNF236 rs189873475 18:76904416:A:C 18 76904416 A C 18:74616372 0.952782 0.00335068 12 1219 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Invasive ventilation 6.35e-05 2.9965 0.7492 Circumscribed brain atrophy 0.0008099 93.052 27.782 NFATC1 rs200663312 18:79411480:T:C 18 79411480 T C 18:77171480 0.956849 0.00153516 2 562 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of eyelid, including canthus 7.21e-05 13.0807 3.2954 NFATC1 rs143702653 18:79451722:G:A 18 79451722 G A 18:77211722 0.905811 271 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of labour and delivery 0.00101 -0.7901 0.2404 NFATC1 rs200207441 18:79486527:C:T 18 79486527 C T 18:77246527 0.987219 12304 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothyroidism and >3 levothyroxin purchases 0.000149 -0.1545 0.0407 Myasthenia gravis 3.728e-05 7.619 1.848 CTDP1 rs17855830 18:79680128:T:G 18 79680128 T G 18:77440128 0.998582 0.674282 167340 80383 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Psoriasis 7.65e-05 -0.1073 0.0271 Retained placenta and membranes, without haemorrhage 0.0001195 0.138 0.036 CTDP1 rs2279103 18:79713127:C:T 18 79713127 C T 18:77473127 0.998975 55784 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of respiratory system and intrathoracic organs (other cancers excluded from controls) 0.000677 -0.1531 0.045 Dissocial personality disorder 0.001607 0.553 0.175 CTDP1 rs144647072 18:79714626:C:T 18 79714626 C T 18:77474626 0.992577 988 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unknown and unspecified causes of morbidity 0.00022 1.8874 0.5109 CTDP1 rs1419186909 18:79715187:T:TGGA 18 79715187 T TGGA 18:77475187 0.96494 8523 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of stomach (other cancers excluded from controls) 0.00151 0.7093 0.2235 Granulomatous disorders of skin and subcutaneous tissue 0.0003323 7.108 1.981 CTDP1 rs145870152 18:79717922:G:A 18 79717922 G A 18:77477922 0.985643 0.00102616 0 377 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperkinetic disorders (more controls excluded) 7.24e-05 5.0713 1.278 POLRMT rs151287767 19:617466:A:G 19 617466 A G 19:617466 0.941074 1452 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Panniculitis, unspecified 0.000264 5.4121 1.4834 Panniculitis, unspecified 0.0004438 168.977 48.106 POLRMT rs139758373 19:632849:C:T 19 632849 C T 19:632849 0.936505 2176 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothermia 0.00344 2.2952 0.7845 Injury of muscle and tendon at forearm level 0.0009003 75.691 22.799 PALM rs201995410 19:727021:G:A 19 727021 G A 19:727021 0.958212 0.000718586 0 264 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Vitamin B12 deficiency anaemia 3.24e-05 3.7096 0.8926 PTBP1 rs150661031 19:804613:G:A 19 804613 G A 19:804613 0.913876 209 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Small fibre neuropathy 0.000602 11.6969 3.4097 AZU1 rs1355978006 19:831815:GT:G 19 831815 GT G 19:831815 0.966569 0.00466537 10 1704 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hearing loss 3.72e-05 0.8485 0.2057 Atopic dermatitis, strict definition with reimbursement 2.457e-05 10.536 2.497 ELANE rs17216663 19:856130:C:T 19 856130 C T 19:856130 0.894211 392 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of aortic and mitral valves 0.00251 5.1586 1.7069 KISS1R rs147415270 19:919515:C:T 19 919515 C T 19:919515 0.968434 0.00579769 4 2126 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Central retinal artery occlusion 3.23e-05 3.7603 0.9047 Other and unspecified acne 0.0004964 152.277 43.724 KISS1R rs350132 19:920642:T:A 19 920642 T A 19:920642 0.9886 65493 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis 0.000148 0.093 0.0245 Unknown and unspecified causes of morbidity 0.0004872 0.126 0.036 ABCA7 rs547447016 19:1047508:AGGAGCAG:A 19 1047508 AGGAGCAG A 19:1047507 0.961565 1122 pLoF dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments of elbow 0.000343 2.1713 0.6064 Malignant neoplasm of oesophagus 0.0007172 92.354 27.3 ABCA7 rs143718918 19:1051007:G:A 19 1051007 G A 19:1051006 0.924307 0.00208227 6 759 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Radial styloid tenosynovitis [de Quervain] 3.8e-06 4.2536 0.9203 Other specified disorders of muscle 0.0004473 165.672 47.194 ABCA7 rs117187003 19:1057344:G:A 19 1057344 G A 19:1057343 0.982233 1012 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Blepharochalasis 0.000539 0.9208 0.2661 0.0001938 17.057 4.577 STK11 rs764449808 19:1218494:A:G 19 1218494 A G 19:1218493 0.816777 75 missense_variant dominant Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Hypopituitarism 0.000151 15.0529 3.9729 STK11 rs59912467 19:1223126:C:G 19 1223126 C G 19:1223125 0.982487 394 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Obstructive hydrocephalus 0.000313 11.8576 3.2898 STK11 rs370207155 19:1226530:A:G 19 1226530 A G 19:1226529 0.931656 258 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinal breaks without detachment 0.000132 3.3084 0.8655 NDUFS7 rs1142530 19:1388539:C:T 19 1388539 C T 19:1388538 0.997769 91205 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Duodenum (other cancers excluded from controls) 0.000467 -0.3313 0.0947 Bulimia nervosa (incl. atypical) 0.0002253 -0.209 0.057 NDUFS7 rs140236960 19:1388863:C:T 19 1388863 C T 19:1388862 0.977108 1266 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Leigh syndrome;Mitochondrial complex I deficiency;not specified Injury of other and unspecified intrathoracic organs 0.000296 2.1115 0.5835 Burn and corrosion of head and neck 0.00046 149.807 42.765 GAMT rs17851582 19:1397444:G:A 19 1397444 G A 19:1397443 0.994468 0.104927 4160 34389 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inguinal or femoral hernia, bilateral 3.17e-05 0.2879 0.0692 Transient global amnesia 0.0003671 0.571 0.16 GAMT rs200833152 19:1401398:A:G 19 1401398 A G 19:1401397 0.98155 612 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.000539 0.4704 0.1359 APC2 rs144391493 19:1453314:C:T 19 1453314 C T 19:1453313 0.928856 485 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of forearm 0.000209 0.9384 0.2531 APC2 rs201709261 19:1457007:C:T 19 1457007 C T 19:1457006 0.96334 296 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Other surgical follow-up care 0.000538 7.7943 2.2521 Benign neoplasm: Parotid gland 0.002266 41.257 13.514 APC2 rs145292370 19:1466345:C:T 19 1466345 C T 19:1466344 0.948422 3098 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Infections of breast associated with childbirth 0.000103 2.0938 0.5391 Chalazion 0.001668 7.908 2.515 APC2 rs202202490 19:1468468:G:C 19 1468468 G C 19:1468467 0.931907 5132 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to lifestyle 0.000643 0.6845 0.2006 0.001578 2.635 0.834 REEP6 rs2271412 19:1496385:C:A 19 1496385 C A 19:1496384 0.965977 982 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified spondylopathies 0.000297 3.7382 1.0332 Infections with a predominantly sexual mode of transmission 0.000213 14.683 3.965 PLK5 rs116095010 19:1528366:C:T 19 1528366 C T 19:1528365 0.958257 0.0128502 78 4643 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Colon, unspecified 1.53e-05 0.583 0.1348 Mixed hyperlipidaemia 0.0006334 13.39 3.919 TCF3 rs201831565 19:1615708:T:G 19 1615708 T G 19:1615707 0.983626 346 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis,primary 0.000355 0.7363 0.2062 TCF3 rs117006898 19:1619793:C:T 19 1619793 C T 19:1619792 0.89441 322 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dementia due to Parkinsons disease 0.00308 6.4951 2.1945 Dyshidrosis [pompholyx] 0.0006043 250.078 72.916 TCF3 rs1196724310 19:1621908:TGAG:T 19 1621908 TGAG T 19:1621907 0.834931 263 inframe_indel dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperaldosteronism 0.00038 10.2988 2.8984 TCF3 rs41275842 19:1627423:T:C 19 1627423 T C 19:1627422 0.929797 4126 pLoF dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of ovary 0.000108 0.5681 0.1467 Paralytic strabismus 0.0008789 10.558 3.174 ATP8B3 rs530525816 19:1783237:TCTC:T 19 1783237 TCTC T 19:1783236 0.97706 1025 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Colorectal cancer (other cancers excluded from controls) 0.000532 0.9607 0.2773 Other specified and unspecified disorders of eye and adnexa 0.00276 34.135 11.404 ADAT3 rs200992550 19:1912430:G:T 19 1912430 G T 19:1912429 0.951844 700 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other or ill-defined heart diseases 0.000725 2.9002 0.8581 ADAT3 rs139117131 19:1912595:C:T 19 1912595 C T 19:1912594 0.960274 4703 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Statin medication 0.000464 0.1514 0.0432 Dissection of aorta 0.0008094 11.175 3.336 AMH rs10407022 19:2249478:G:T 19 2249478 G T 19:2249477 0.983901 58055 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Major coronary heart disease event 0.000361 0.0652 0.0183 Glaucoma secondary to other eye disorders 0.0005811 0.182 0.053 TMPRSS9 rs34615361 19:2422193:G:A 19 2422193 G A 19:2422191 0.921795 607 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of sciatic nerve 0.000769 3.2298 0.9602 LMNB2 rs121912497 19:2435152:C:T 19 2435152 C T 19:2435150 0.967413 6344 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acquired partial lipodystrophy;Epilepsy, progressive myoclonic, 9;Lipodystrophy, partial, acquired, susceptibility to;not provided;not specified Diseases of the ear and mastoid process 0.000351 -0.1211 0.0339 Other ulcerative colitis 0.0009197 10.864 3.278 SLC39A3 rs140376410 19:2733190:C:T 19 2733190 C T 19:2733188 0.964767 661 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other meningitis 0.00078 6.834 2.034 Hirsutism 0.0004661 159.894 45.69 GNA15 rs2230330 19:3151782:G:A 19 3151782 G A 19:3151780 0.971643 0.0147855 92 5340 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sicca syndrome [Sjogren] 9.27e-06 0.9138 0.2061 Melanocytic naevi of trunk (other cancers excluded from controls) 0.0009338 4.859 1.468 GIPC3 rs138339125 19:3590107:G:A 19 3590107 G A 19:3590105 0.978298 199 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other congenital malformations of ear 0.000385 13.277 3.7399 TBXA2R rs34486470 19:3595008:A:G 19 3595008 A G 19:3595006 0.99438 0.113504 4676 37024 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing spondylitis 9.39e-05 0.2725 0.0698 Vascular dementia (multiple infarctations) 0.0001033 1.789 0.461 TBXA2R rs4523 19:3595796:A:G 19 3595796 A G 19:3595794 0.996763 84956 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lupus erythematosus 0.000266 0.3408 0.0934 Lupus erythematosus 0.0002596 0.238 0.065 TBXA2R rs1131882 19:3595925:G:A 19 3595925 G A 19:3595923 0.994327 45792 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Convalescence 0.000945 0.275 0.0832 Cardiac arrhytmias, COPD co-morbidities 0.0001234 -0.111 0.029 PIP5K1C rs34633286 19:3633466:G:A 19 3633466 G A 19:3633464 0.909933 1062 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peripheral angiopathy 0.000593 5.231 1.523 Granulomatous disorders of skin and subcutaneous tissue 0.00089 88.58 26.655 PIP5K1C rs35014191 19:3633475:C:T 19 3633475 C T 19:3633473 0.909357 421 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations 2e-04 3.1293 0.8414 RAX2 rs76076446 19:3771588:G:A 19 3771588 G A 19:3771586 0.993209 10213 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cone-Rod Dystrophy, Dominant;Macular degeneration;not specified Dislocation, sprain and strain of joint and ligaments of hip 0.000228 0.967 0.2623 Achilles tendinitis 8.784e-05 2.473 0.63 DPP9 rs200878232 19:4704180:G:C 19 4704180 G C 19:4704192 0.990488 9636 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected malpresentation of fetus 0.000558 0.346 0.1002 Cirrhosis, broad definition used in the article https://doi.org/10.1101/594523 0.0002509 2.456 0.671 TICAM1 rs3177471 19:4816496:G:A 19 4816496 G A 19:4816508 0.954745 512 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Temporomandibular joint disorders 0.00052 1.5826 0.4561 Nerve, nerve root and plexus disorders 0 5.911 0 TICAM1 rs143679494 19:4816676:C:T 19 4816676 C T 19:4816688 0.98511 478 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperkinetic disorders (more controls excluded) 0.000304 3.8762 1.0731 TICAM1 rs150740529 19:4816817:C:T 19 4816817 C T 19:4816829 0.99745 1283 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other necrotizing vasculopathies (FG) 0.000531 1.9969 0.5764 TICAM1 rs144100421 19:4817276:A:AAGG 19 4817276 A AAGG 19:4817288 0.995913 28031 inframe_indel both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified cerebrovascular diseases, other cerebrovascular disorders in diseases classified elsewhere 0.000325 0.3531 0.0982 Vocal cord dysfunction 0.0001075 1.414 0.365 TICAM1 rs151272128 19:4817645:C:T 19 4817645 C T 19:4817657 0.964324 137 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adult respiratory distress syndrome 0.00136 19.2204 6.0017 TICAM1 rs200697470 19:4817678:G:A 19 4817678 G A 19:4817690 0.971949 1288 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Counselling related to sexual attitude, behaviour and orientation 0.00196 3.8271 1.2358 Counselling related to sexual attitude, behaviour and orientation 0.000425 163.304 46.34 TICAM1 rs145148929 19:4817899:G:A 19 4817899 G A 19:4817911 0.98017 700 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral infections of the central nervous system 0.000814 2.3091 0.6897 LONP1 rs151025018 19:5694892:C:G 19 5694892 C G 19:5694903 0.980981 3629 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adjustment and management of implanted device 0.000174 0.7646 0.2037 Other and unspecified coagulation defects 0.0002761 18.204 5.006 LONP1 rs139554429 19:5705830:C:T 19 5705830 C T 19:5705841 0.995345 2140 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Gonarthrosis, primary, with knee surgery 0.0015 -0.4067 0.1281 Lack of expected normal physiological development 0.0001963 320.498 86.069 LONP1 rs149169865 19:5711899:C:T 19 5711899 C T 19:5711910 0.992891 221 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Follicular lymphoma 0.000367 8.2289 2.3098 LONP1 rs11085147 19:5711919:C:T 19 5711919 C T 19:5711930 0.986996 0.0833723 2678 27952 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pilonidal cyst 4.67e-05 0.3206 0.0787 Peripheral retinal degeneration 0.0002589 1.528 0.418 LONP1 rs11551011 19:5720063:G:T 19 5720063 G T 19:5720074 0.953483 1476 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of patella 0.000143 0.8751 0.2301 Hypothyroidism (congenital or acquired) 0 4.239 0 NRTN rs79744308 19:5827754:G:A 19 5827754 G A 19:5827765 0.992143 10737 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Disorders of choroid and retina 0.00033 -0.1449 0.0404 Suppurative otitis media, unspecified 0.0003732 6.872 1.931 FUT6 rs145035679 19:5831623:G:T 19 5831623 G T 19:5831634 0.96277 397 LC unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Viral infections of the central nervous system 0.00119 3.1185 0.9618 FUT6 rs17855739 19:5831829:C:T 19 5831829 C T 19:5831840 0.994473 10924 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Fucosyltransferase 6 deficiency Disorders of choroid and retina 0.00028 -0.1469 0.0404 Melanocytic naevi of scalp and neck (other cancers excluded from controls) 0.0004932 14.942 4.288 FUT3 rs3745635 19:5844332:C:T 19 5844332 C T 19:5844343 0.990778 20058 missense_variant unknown no interpretation for the single variant not_provided no interpretation for the single variant none Le(-) PHENOTYPE Postmenopausal bleeding 0.000433 -0.1769 0.0503 Use of antiglaucoma preparations and miotics 3.042e-05 1.414 0.339 FUT3 rs28362459 19:5844781:A:C 19 5844781 A C 19:5844792 0.993615 0.132702 6328 42425 missense_variant unknown no interpretation for the single variant not_provided no interpretation for the single variant none Cholelithiasis, broad definition with cholecystitis 1.11e-05 0.0849 0.0193 Chorioretinal inflammation 0.0001707 1 0.266 FUT3 rs146199130 19:5844785:C:T 19 5844785 C T 19:5844796 0.903969 109 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Failed attempted abortion 0.000578 27.1888 7.8999 FUT5 rs4807054 19:5866713:G:A 19 5866713 G A 19:5866724 0.98318 87026 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of ovary 0.00027 -0.1109 0.0304 COPD related to chronic (opportunist) infections 0.000502 -0.397 0.114 CAPS rs143117009 19:5914459:G:A 19 5914459 G A 19:5914470 0.996133 2609 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis, primary 0.000403 -0.3781 0.1069 Burns and corrosions 0.0006989 11.805 3.482 ACER1 rs76925618 19:6306846:C:T 19 6306846 C T 19:6306857 0.95797 1358 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lymphoid leukaemia 0.000168 2.5069 0.6663 Injuries to the hip and thigh 0.002034 5.689 1.844 ACER1 rs147053887 19:6307235:C:T 19 6307235 C T 19:6307246 0.98694 3841 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alopecia areata 0.000648 1.7778 0.5212 Carcinoma in situ of breast, other/unspecified (other cancers excluded from controls) 1.296e-05 70.53 16.173 TUBB4A rs150812047 19:6501375:C:T 19 6501375 C T 19:6501386 0.890924 214 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Otosclerosis 0.000879 3.7194 1.118 C3 rs144432231 19:6707902:T:A 19 6707902 T A 19:6707913 0.941813 917 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atypical hemolytic uremic syndrome;C3 deficiency;Macular degeneration Injury of nerves at forearm level 0.000294 6.285 1.7359 Chlocystitis 0.003677 26.157 9.005 C3 rs146613648 19:6707920:C:T 19 6707920 C T 19:6707931 0.899634 227 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of cervix uteri (other cancers excluded from controls) 0.000321 11.9396 3.319 C3 rs1047286 19:6713251:G:A 19 6713251 G A 19:6713262 0.992751 0.173971 11192 52723 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Age-related macular degeneration (whether dry or wet) 1.02e-06 0.189 0.0387 Respiratory disorders in diseases classified elsewhere 0.0002527 1.221 0.334 C3 rs147859257 19:6718135:T:G 19 6718135 T G 19:6718146 0.981618 703 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Trigeminal neuralgia 0.00638 1.9428 0.7123 C3 rs2230199 19:6718376:G:C 19 6718376 G C 19:6718387 0.992747 0.181606 12230 54490 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Age-related macular degeneration (whether dry or wet) 7.43e-08 0.2051 0.0381 Bipolar affective disorders 0.0003581 -0.198 0.055 TRIP10 rs1049229 19:6751268:A:G 19 6751268 A G 19:6751279 0.992114 66514 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oligomenorrhoea 0.00149 0.2505 0.0788 Non-small cell lung cancer, adenocarcinoma (other cancers excluded from controls) 4.19e-05 0.447 0.109 TRIP10 rs1049230 19:6751270:C:T 19 6751270 C T 19:6751281 0.99212 66514 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oligomenorrhoea 0.00149 0.2505 0.0788 Non-small cell lung cancer, adenocarcinoma (other cancers excluded from controls) 4.19e-05 0.447 0.109 TRIP10 rs1049232 19:6751282:T:G 19 6751282 T G 19:6751293 0.995233 66560 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disturbance of activity and attention 0.00133 -0.2356 0.0734 Non-small cell lung cancer, adenocarcinoma (other cancers excluded from controls) 4.248e-05 0.445 0.109 VAV1 rs117819421 19:6826619:G:A 19 6826619 G A 19:6826630 0.907498 2055 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Memory loss 0.000195 1.2216 0.328 Valvular operations 2.524e-05 1.924 0.457 VAV1 rs36097961 19:6850756:C:T 19 6850756 C T 19:6850767 0.96546 0.127282 6054 40708 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of cervix uteri (other cancers excluded from controls) 7.23e-05 0.5879 0.1481 Campylobacter enteritis 0.001135 0.897 0.276 ADGRE1 rs112217832 19:6897184:G:C 19 6897184 G C 19:6897195 0.980772 14028 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases caused by chlamydiae 0.000142 1.2803 0.3365 Peripheral retinal degeneration 3.307e-05 4.012 0.967 INSR rs1799816 19:7125507:C:T 19 7125507 C T 19:7125518 0.991284 2083 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diabetes mellitus type 2;Insulin-resistant diabetes mellitus AND acanthosis nigricans;Monogenic diabetes;not provided;not specified Alcohol related diseases, tilastokeskus definition, death only 0.0018 1.0351 0.3317 0.0001295 23.433 6.123 INSR rs146588336 19:7132162:G:C 19 7132162 G C 19:7132173 0.926739 278 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Colon (other cancers excluded from controls) 0.00069 1.3116 0.3865 INSR rs187282966 19:7141693:C:T 19 7141693 C T 19:7141704 0.995601 1972 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Other (seronegative) rheumatoid arthritis, wide 0.000687 0.7085 0.2087 Other heart diseases 0.0004213 1.801 0.511 INSR rs143523271 19:7150521:G:A 19 7150521 G A 19:7150532 0.95702 180 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital malformations of eye, ear, face and neck 0.000569 5.2331 1.5185 ARHGEF18 rs199567237 19:7440277:C:T 19 7440277 C T 19:7505163 0.971602 1773 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonia due to Streptococcus pneumoniae 0.000709 1.7765 0.5246 Hypertensive Renal Disease 0.002549 31.449 10.422 ARHGEF18 rs115555106 19:7440481:G:A 19 7440481 G A 19:7505367 0.908049 292 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Biomechanical lesions, not elsewhere classified 0.000264 6.5607 1.7986 ARHGEF18 rs140297736 19:7447130:C:G 19 7447130 C G 19:7512016 0.985599 528 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Urethral stricture 0.000225 3.5551 0.9637 ARHGEF18 rs180746700 19:7468900:G:A 19 7468900 G A 19:7533786 0.941323 533 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinoschisis and retinal cysts 0.000134 7.6412 2.0013 Other disorders of pigmentation 0.0006654 116.71 34.292 ARHGEF18 rs201984212 19:7468937:C:T 19 7468937 C T 19:7533823 0.93497 562 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of brain, other and unspecified 0.00285 7.6459 2.5624 ARHGEF18 rs200343726 19:7470240:C:T 19 7470240 C T 19:7535126 0.990277 3729 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 0.000741 0.7901 0.2342 0.002372 40.186 13.223 MCOLN1 rs141240937 19:7528836:A:G 19 7528836 A G 19:7593722 0.993662 2759 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other psoriatic arthropathies 0.000151 1.127 0.2974 Postprocedural musculoskeletal disorders, not elsewhere classified 0.000482 14.454 4.141 PNPLA6 rs188353745 19:7535961:T:C 19 7535961 T C 19:7600847 0.987983 1929 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mucolipidosis type IV;Spastic Paraplegia, Recessive;Spastic paraplegia 39;not specified Status post-ami 0.000108 1.2044 0.3112 Other and unspecified glaucoma 0.00148 59.207 18.627 PNPLA6 rs17854645 19:7542022:G:C 19 7542022 G C 19:7606908 0.987416 53140 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Childhood asthma (age<16) 0.00015 -0.1636 0.0431 Benign neoplasm: Skin, unspecified 0.0004311 0.523 0.149 PNPLA6 rs145191932 19:7542855:C:T 19 7542855 C T 19:7607741 0.95259 2205 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spastic paraplegia 39;not provided;not specified Hyperkinetic disorders (excl. ADHD) 0.000191 3.6147 0.9688 Other and unspecified hydrocephalus 0.0009877 86.003 26.109 PNPLA6 rs145988230 19:7553973:G:A 19 7553973 G A 19:7618859 0.983747 0.00110782 0 407 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pneumothorax 7.16e-05 4.3655 1.0994 PNPLA6 rs145178162 19:7561542:G:A 19 7561542 G A 19:7626428 0.98382 3380 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spastic Paraplegia, Recessive;Spastic paraplegia 39;not provided;not specified Endometriosis 0.00246 -0.3091 0.1021 Vitamin deficiency 0.0002473 19.901 5.43 PET100 rs117661715 19:7631533:C:T 19 7631533 C T 19:7696419 0.995456 0.0328971 428 11658 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Type 2 diabetes, strict (exclude DM1) 6.32e-05 0.1314 0.0328 Lichen sclerosus et atrophicus 0.000948 2.381 0.72 STXBP2 rs117761837 19:7643172:C:T 19 7643172 C T 19:7708058 0.986489 2715 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hemophagocytic lymphohistiocytosis, familial, 5;not specified Other and unspecified nail disorders 0.000527 3.0708 0.8859 Carcinoma in situ of breast, intraductal 0.0009313 10.372 3.133 STXBP2 rs141309384 19:7645248:C:T 19 7645248 C T 19:7710134 0.977405 1403 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hemophagocytic lymphohistiocytosis, familial, 5;not specified Other bursitis, not elsewhere classified 0.000258 5.0742 1.3885 0.0002775 2.192 0.603 STXBP2 rs142105943 19:7646267:C:T 19 7646267 C T 19:7711153 0.995573 13051 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial hemophagocytic lymphohistiocytosis Other specified and unspecified strabismus 0.000827 1.3127 0.3926 Labour and delivery complicated by intrapartum haemorrhage, not elsewhere classified 0.0003414 7.048 1.968 STXBP2 rs10001 19:7646335:T:C 19 7646335 T C 19:7711221 0.995971 0.492844 89234 91831 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other orthopaedic follow-up care 7.76e-05 -0.2099 0.0531 Hypoglycaemia, other or unspecified 0.0007725 -0.145 0.043 STXBP2 rs6791 19:7647391:A:G 19 7647391 A G 19:7712277 0.994732 74942 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Psychiatric diseases 0.000116 0.0386 0.01 Acquired haemolytic anaemia 0.0002099 0.261 0.07 STXBP2 rs35490401 19:7647401:G:C 19 7647401 G C 19:7712287 0.936578 680 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hemophagocytic lymphohistiocytosis;Hemophagocytic lymphohistiocytosis, familial, 5 Chlocystitis 0.000137 1.7957 0.4708 Presence of cardiac and vascular implants and grafts 0.0001623 4.608 1.222 MCEMP1 rs113286748 19:7678983:C:T 19 7678983 C T 19:7743869 0.987095 1148 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders resulting from impaired renal tubular function 0.000953 3.1308 0.9476 Benign neoplasm: Brain, supratentorial (other cancers excluded from controls) 0.0005769 133.596 38.811 LRRC8E rs139734410 19:7899974:C:A 19 7899974 C A 19:7964859 0.957228 249 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anomalies of pupillary function 0.000637 11.6335 3.4061 TIMM44 rs11542187 19:7928091:T:C 19 7928091 T C 19:7992976 0.990935 23338 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Bipolar affective disorders 0.00122 0.1774 0.0549 Other gastritis (incl. Duodenitis) 0.0003331 0.505 0.141 TIMM44 rs118048213 19:7933501:G:C 19 7933501 G C 19:7998386 0.993524 9421 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Mental disorders, not otherwise specified 0.000501 0.4918 0.1413 Mixed and other personality disorders 3.154e-05 2.767 0.665 TIMM44 rs35989631 19:7935160:C:T 19 7935160 C T 19:8000045 0.990896 0.258963 24908 70232 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter General examination and investigation of persons without complaint and reported diagnosis 2.37e-05 -0.0629 0.0149 Cholangitis (primary sclerosing, PSC), with reimbursement 202 0.001616 0.525 0.166 TIMM44 rs117812409 19:7938136:T:C 19 7938136 T C 19:8003021 0.984432 3523 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Gonarthrosis, primary, with knee surgery 0.00011 0.3802 0.0983 Injury of unspecified body region 0.001167 9.751 3.003 TIMM44 rs144317041 19:7938155:C:T 19 7938155 C T 19:8003040 0.996476 7182 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Glaucoma suspect 0.000754 -0.2999 0.089 Unspecified diabetic retinopathy 0.001378 2.757 0.862 FBN3 rs35794930 19:8065983:G:T 19 8065983 G T 19:8130867 0.993928 390 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified systemic involvement of connective tissue 0.000282 3.9954 1.1004 FBN3 rs142418616 19:8073154:C:T 19 8073154 C T 19:8138038 0.992937 4974 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transient ischemic attack 0.000141 -0.303 0.0796 All influenza (not pneumonia) 0.001814 3.842 1.232 FBN3 rs35318692 19:8073220:C:T 19 8073220 C T 19:8138104 0.993042 428 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postmenopausal bleeding 0.000304 1.2838 0.3554 FBN3 rs144887983 19:8086248:C:G 19 8086248 C G 19:8151132 0.969207 2615 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ischaemic heart disease, wide definition 0.000328 0.2601 0.0724 Soft tissue disorders 0.004223 1.596 0.558 FBN3 rs138457751 19:8087840:C:T 19 8087840 C T 19:8152724 0.978187 2321 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Oher enthesopathy of foot (+metatarsalgia) 0.000943 0.9894 0.2992 Chronic rhinitsi, nasopharyngitis and pharyngitis 0.0001138 8.67 2.247 FBN3 rs141592778 19:8103654:C:T 19 8103654 C T 19:8168538 0.992218 625 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified injuries of shoulder and upper arm 0.000186 5.6834 1.5209 Other and unspecified injuries of shoulder and upper arm 2.36e-05 59.073 13.973 FBN3 rs151274163 19:8106183:C:T 19 8106183 C T 19:8171067 0.990049 3588 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified systemic involvement of connective tissue 0.000617 1.0552 0.3082 Other and unspecified disorders of vitreous body 4.236e-05 4.203 1.027 FBN3 rs61729623 19:8138508:G:C 19 8138508 G C 19:8203392 0.939039 3186 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behavioural disorders 0.000335 1.8959 0.5286 Otherand unspecified haemorrhagic conditions 0.002718 33.381 11.134 FBN3 rs138635091 19:8141960:A:G 19 8141960 A G 19:8206844 0.951757 301 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of the musculoskeletal system and connective tissue 0.00015 3.3058 0.872 FBN3 rs35525553 19:8141963:T:C 19 8141963 T C 19:8206847 0.95699 0.00592562 10 2167 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension complicating pregnancy, childbirth, and the puerperium 2.52e-05 0.5562 0.132 Injury of muscle and tendon at hip and thigh level 0.000131 22.583 5.905 FBN3 rs117724347 19:8144970:T:A 19 8144970 T A 19:8209854 0.955986 0.00610254 14 2228 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension complicating pregnancy, childbirth, and the puerperium 7.41e-05 0.5126 0.1294 Injury of muscle and tendon at hip and thigh level 0.000193 19.621 5.263 CD320 rs2336573 19:8302825:C:T 19 8302825 C T 19:8367709 0.985534 9563 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other congenital malformations of face and neck 0.00057 0.8807 0.2556 Duodenal ulcer 0.000811 2.39 0.714 CD320 rs150384171 19:8305034:ACTC:A 19 8305034 ACTC A 19:8369918 0.992525 1257 inframe_indel unknown Conflicting interpretations of pathogenicity, other Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Methylmalonic aciduria due to transcobalamin receptor defect;not provided;not specified Endometriosis of intestine 0.000302 6.1792 1.71 Cellulitis 0.000173 18.646 4.965 CD320 rs2232775 19:8308268:T:C 19 8308268 T C 19:8373152 0.984405 9563 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other congenital malformations of face and neck 0.000531 0.887 0.256 Duodenal ulcer 0.0006833 2.497 0.735 CD320 rs2232774 19:8308280:C:T 19 8308280 C T 19:8373164 0.96361 0.00647816 28 2352 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Heart failure,strict 6.94e-07 0.5324 0.1073 Other specified and unspecified disorders of eye and adnexa 0.0001113 27.259 7.054 ANGPTL4 rs116843064 19:8364439:G:A 19 8364439 G A 19:8429323 0.993945 0.0273144 262 9773 missense_variant dominant association association no assertion criteria provided no_Criteria Plasma triglyceride level quantitative trait locus Statin medication 3.67e-07 -0.152 0.0299 Hydronephrosis 0.000842 2.472 0.74 ADAMTS10 rs142320702 19:8591972:G:A 19 8591972 G A 19:8656856 0.968 480 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dementia due to Parkinsons disease 0.000759 6.4619 1.919 Corneal ulcer 0.003969 25.612 8.891 ADAMTS10 rs61750006 19:8605230:C:T 19 8605230 C T 19:8670115 0.983075 2326 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of adrenal gland 0.000146 1.98 0.5213 Duodenal ulcer 0.0007354 11.359 3.365 ADAMTS10 rs62621197 19:8605262:C:T 19 8605262 C T 19:8670147 0.965102 0.0201885 178 7239 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Weill-Marchesani syndrome Carpal tunnel syndrome 6.8e-07 0.3056 0.0615 Ohter specific/unspecified arthritis 0.000355 2.129 0.596 MUC16 rs189305878 19:8938548:T:C 19 8938548 T C 19:9049224 0.98362 714 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 0.000745 2.4961 0.7402 MUC16 rs183248903 19:8956342:C:G 19 8956342 C G 19:9067018 0.985812 897 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicalgia 0.000562 1.0978 0.3183 MUC16 rs181693567 19:8958627:A:G 19 8958627 A G 19:9069303 0.984588 947 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicalgia 0.000267 1.1373 0.312 MUC16 rs61732905 19:8959588:A:C 19 8959588 A C 19:9070264 0.983225 0.00755877 26 2751 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of lung 2.54e-05 0.536 0.1273 Other appendicitis 0.001589 8.266 2.618 MUC16 rs79202331 19:8960197:A:G 19 8960197 A G 19:9070873 0.995821 5496 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other retinal disorders 0.000203 0.2479 0.0667 Maternal care for known or suspected fetal abnormality and damage 0.0001396 4.676 1.228 COL5A3 rs62638750 19:9973784:A:G 19 9973784 A G 19:10084460 0.955646 1291 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other conjunctival vascular disorders and cysts 0.00039 3.7768 1.0649 Other congenital malformations of ear 0.001664 45.856 14.583 PPAN-P2RY11 rs139458920 19:10113847:C:T 19 10113847 C T 19:10224523 0.975461 0.0106726 62 3859 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peripheral retinal degeneration 2.13e-05 1.9343 0.455 Campylobacter enteritis 0.0002616 19.918 5.456 P2RY11 rs75945356 19:10114395:A:G 19 10114395 A G 19:10225071 0.949165 175 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn's disease of large intestine 0.000885 6.5868 1.9811 P2RY11 rs147646315 19:10114659:G:A 19 10114659 G A 19:10225335 0.97964 1435 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary open-angle glaucoma 0.000782 0.7247 0.2158 Mixed hyperlipidaemia 0.0004805 139.197 39.869 DNMT1 rs61758431 19:10162694:A:C 19 10162694 A C 19:10273370 0.996791 262 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute alcohol intoxication 0.000146 1.7553 0.4621 DNMT1 rs2228612 19:10162696:T:C 19 10162696 T C 19:10273372 0.996566 0.083571 2732 27971 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia, Deafness, and Sensory Neuropathy;not specified Certain disorders involving the immune mechanism 5.28e-05 0.2228 0.0551 Ulcer of lower limb, not elsewhere classified 0.001586 0.62 0.196 DNMT1 rs75616428 19:10180437:C:G 19 10180437 C G 19:10291113 0.985962 2054 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia, Deafness, and Sensory Neuropathy;Hereditary sensory neuropathy type IE Behavioural disorders 0.000111 2.5438 0.6583 Low back pain 0.001308 2.49 0.775 DNMT1 rs61750053 19:10180797:C:T 19 10180797 C T 19:10291473 0.995122 10243 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia, Deafness, and Sensory Neuropathy;Hereditary sensory neuropathy type IE;not provided;not specified Other special examinations and investigations of persons without complaint or reported diagnosis 0.000724 0.0851 0.0252 Other enthesopathies 0.00053 1.107 0.319 S1PR2 rs56357614 19:10224876:G:T 19 10224876 G T 19:10335552 0.988071 1096 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Myocardial infarction 0.00166 -0.5273 0.1676 Aphakia 0.001917 43.99 14.178 ICAM1 rs5491 19:10274864:A:T 19 10274864 A T 19:10385540 0.993264 0.0299765 410 10603 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Malaria, cerebral, susceptibility to Asthma (only as main-diagnosis) 9.74e-05 0.1527 0.0392 Dorsalgia 0.0004127 0.398 0.113 ICAM1 rs150121537 19:10284974:C:T 19 10284974 C T 19:10395650 0.987154 2732 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of other internal prosthetic devices, implants and grafts 0.000166 2.2084 0.5864 Other hammer toe(s) (acquired) 0.0003336 5.584 1.556 ICAM4 rs77493670 19:10287311:A:G 19 10287311 A G 19:10397987 0.995453 10462 missense_variant unknown Affects association no assertion criteria provided no_Criteria Landsteiner-Wiener phenotype Thyrotoxicosis, other and/or unspecified 0.00205 0.2812 0.0912 Polyarhtrosis 0.000235 1.559 0.424 FDX2 rs62640397 19:10315921:T:C 19 10315921 T C 19:10426597 0.999303 0.0560307 1208 19377 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Diseases of the musculoskeletal system and connective tissue 3.66e-05 0.0686 0.0166 Pain in thoracic spine 0.000693 0.782 0.231 ICAM3 rs17697947 19:10338838:T:C 19 10338838 T C 19:10449514 0.996409 0.0299248 400 10594 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma (only as main-diagnosis) 7.54e-05 0.1552 0.0392 0.0004395 2.198 0.625 TYK2 rs55886939 19:10350910:T:C 19 10350910 T C 19:10461586 0.971501 658 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified nail disorders 0.000593 7.2842 2.1206 TYK2 rs34536443 19:10352442:G:C 19 10352442 G C 19:10463118 0.994334 0.030657 348 10915 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial Atypical Mycobacteriosis, Autosomal Recessive;Tyrosine kinase 2 deficiency;not specified KELA_REIMBURSEMENT_202 6.09e-09 -0.2954 0.0508 Gonarthrosis, primary, with knee surgery 0.0003031 0.851 0.236 TYK2 rs35018800 19:10354167:G:A 19 10354167 G A 19:10464843 0.985612 0.00683201 18 2492 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tyrosine kinase 2 deficiency;not provided;not specified Superficial injury of shoulder and upper arm 3.13e-06 1.4209 0.3048 Peroneal tendinitis 0.0006764 109.572 32.237 TYK2 rs12720356 19:10359299:A:C 19 10359299 A C 19:10469975 0.999211 0.0819025 2522 27568 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial Atypical Mycobacteriosis, Autosomal Recessive;not specified Peritonsillar abscess 3.48e-06 0.2221 0.0479 Injury of muscle and tendon at lower leg level 0.0004514 0.563 0.161 TYK2 rs200643906 19:10362431:C:T 19 10362431 C T 19:10473107 0.958561 308 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of other connective and soft tissue (other cancers excluded from controls) 0.000476 9.2758 2.6549 TYK2 rs2304255 19:10364973:C:T 19 10364973 C T 19:10475649 0.992382 0.0708869 1982 24061 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial Atypical Mycobacteriosis, Autosomal Recessive;not specified Statin medication 2.06e-07 -0.0986 0.019 Injury of intra-abdominal organs 0.0003426 1.909 0.533 TYK2 rs2304256 19:10364976:C:A 19 10364976 C A 19:10475652 0.999245 0.252986 23670 69274 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Psoriatic and enteropathic arthropathies 2.79e-06 -0.2197 0.0469 Separation of retinal layers (serosa) 0.001449 0.334 0.105 TYK2 rs55762744 19:10378250:C:T 19 10378250 C T 19:10488926 0.984466 2006 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tyrosine kinase 2 deficiency;not specified Congenital obstructive defects of renal pelvis and congenital malformations of ureter 0.000753 2.9152 0.8652 Arthropathies 0.0006324 1.244 0.364 KEAP1 rs559787043 19:10486666:TCTG:T 19 10486666 TCTG T 19:10597342 0.969705 858 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vertigo of central origin 0.000527 5.4203 1.5635 Arthropod-borne viral fevers and viral haemorrhagic fevers 0.002 44.339 14.348 ATG4D rs138606386 19:10547195:C:T 19 10547195 C T 19:10657871 0.92906 496 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bullous disorders 0.000212 4.2295 1.1417 DNM2 rs148790687 19:10772481:C:T 19 10772481 C T 19:10883157 0.989255 310 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, strict definition, subgroup 1 0.000205 2.1324 0.5744 DNM2 rs145478270 19:10777171:G:A 19 10777171 G A 19:10887847 0.999282 3902 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, dominant intermediate B;not provided;not specified Other disorders of breast 0.000366 0.7286 0.2045 Hypersensitivity pneumonitis due to organic dust 0.0002144 21.9 5.917 DNM2 rs199927590 19:10797424:A:G 19 10797424 A G 19:10908100 0.915105 147 missense_variant both Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Female infertility, associated with anovulation 0.000335 5.9061 1.6466 SMARCA4 rs200664441 19:10986422:C:T 19 10986422 C T 19:11097098 0.987525 0.00957571 50 3468 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coffin-Siris syndrome;Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2;not specified Adjustment and management of implanted device 2.03e-05 0.9356 0.2196 Multiple myeloma and malignant plasma cell neoplasms 0.000817 11.406 3.408 SMARCA4 rs140192268 19:10987920:T:C 19 10987920 T C 19:11098596 0.989611 1912 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coffin-Siris syndrome;Hereditary cancer-predisposing syndrome;Rhabdoid tumor predisposition syndrome 2;not specified Statin medication 0.000193 -0.2497 0.067 0.0005533 -12.453 3.606 SMARCA4 rs201258822 19:11059799:G:A 19 11059799 G A 19:11170475 0.925547 208 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified bacterial intestinal infections 0.00023 6.5472 1.7775 LDLR rs147509697 19:11089606:G:A 19 11089606 G A 19:11200282 0.940479 277 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Acute alcohol intoxication 0.000241 1.6585 0.4517 LDLR rs13306510 19:11102786:C:T 19 11102786 C T 19:11213462 0.978659 156 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Vascular dementia (subcortical) 0.000396 13.0573 3.6855 LDLR rs11669576 19:11111624:G:A 19 11111624 G A 19:11222300 0.995337 16023 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypercholesterolemia;not provided;not specified Hyperfunction of pituitary gland 0.000282 0.5191 0.143 Postpartum care and examination 7.193e-05 1.152 0.29 LDLR rs139791325 19:11120122:G:A 19 11120122 G A 19:11230798 0.910172 0.000321186 0 118 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Cervicobrachial syndrome 9.81e-07 5.7931 1.1834 LDLR rs5926 19:11120166:C:T 19 11120166 C T 19:11230842 0.984995 1586 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;not specified Asthma mixed form (mode) (more controls excluded) 0.000483 1.8966 0.5434 Retinal vein occlusion (central or branch) 0.001052 77.055 23.52 LDLR rs45508991 19:11123210:C:T 19 11123210 C T 19:11233886 0.997807 0.0133537 66 4840 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypercholesterolemia;not provided;not specified Statin medication 3.88e-09 0.2478 0.0421 Ulcerative ileocolitis 0.002134 7.379 2.403 LDLR rs3826810 19:11131457:G:A 19 11131457 G A 19:11242133 0.998378 11704 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial hypercholesterolemia Nonhereditary hypogammaglobulinemia 0.000186 1.5334 0.4102 Manic episode 0.001262 4.275 1.326 KANK2 rs138583048 19:11176662:C:A 19 11176662 C A 19:11287338 0.987163 4736 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other complications of surgical and medical care, not elsewhere classified 0.000429 0.8338 0.2367 Drug-induced osteoporosis with pathological fracture 5.361e-05 38.149 9.444 KANK2 rs138305694 19:11193491:G:A 19 11193491 G A 19:11304167 0.94028 2953 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diverticular disease of intestine 0.000562 0.2971 0.0861 Gout, strict definition 1.444e-05 18.512 4.268 DOCK6 rs117328686 19:11208960:G:A 19 11208960 G A 19:11319636 0.981487 5033 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Adams-Oliver syndrome 2 Maternal care for other conditions predominantly related to pregnancy 0.00149 -0.4023 0.1266 Normal-pressure hydrocephalus 9.411e-05 30.242 7.744 DOCK6 rs201738818 19:11208993:A:G 19 11208993 A G 19:11319669 0.826571 0.000702255 4 254 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hepatic failure, not elsewhere classified 3.48e-05 10.4132 2.5157 DOCK6 rs112911897 19:11215909:G:A 19 11215909 G A 19:11326585 0.989109 0.0236807 218 8482 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Unstable angina pectoris 6.27e-05 0.296 0.074 Malignant neoplasm of rectosigmoid junction (other cancers excluded from controls) 0.0007493 12.16 3.607 DOCK6 rs199838752 19:11236849:C:T 19 11236849 C T 19:11347525 0.816526 435 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Rheumatic valve diseases 0.00243 4.5687 1.5069 DOCK6 rs12978266 19:11248123:G:A 19 11248123 G A 19:11358799 0.990099 81790 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypokalaemia 0.000163 -0.1815 0.0482 Chronic laryngitis and laryngotracheitis 0.0002038 -0.096 0.026 DOCK6 rs183060698 19:11252958:C:T 19 11252958 C T 19:11363634 0.877105 157 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of synovium and tendon in diseases classified elsewhere 0.000459 15.1606 4.3268 EPOR rs142094773 19:11378049:G:A 19 11378049 G A 19:11488725 0.989019 3675 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial erythrocytosis;Familial erythrocytosis, 1 Hypertensive diseases (excluding secondary) 0.000211 0.2076 0.056 Other and unspecified mononeuropathies of upper limb 0.00015 24.721 6.521 EPOR rs62638745 19:11378051:T:C 19 11378051 T C 19:11488727 0.97691 0.0192875 146 6940 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial erythrocytosis;Familial erythrocytosis, 1 Mental and behabioural disorders of puerperum, not classified elsewhere 7.9e-05 1.9168 0.4856 Oedema, not elsewhere classified 2.424e-06 3.358 0.712 EPOR rs750657898 19:11381199:A:G 19 11381199 A G 19:11491875 0.976847 141 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Third [oculomotor] nerve palsy 0.00179 16.4516 5.2687 EPOR rs146235694 19:11382061:G:A 19 11382061 G A 19:11492737 0.980563 207 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute lymphadenitis 0.00104 4.5316 1.3817 EPOR rs45516306 19:11383211:C:T 19 11383211 C T 19:11493887 0.919132 412 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Special screening examination for other diseases and disorders 0.000736 1.8988 0.5624 CCDC151 rs200305902 19:11426690:T:C 19 11426690 T C 19:11537510 0.942495 162 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (Late onset) 0.00104 2.9235 0.8917 CCDC151 rs35061520 19:11426783:G:A 19 11426783 G A 19:11537603 0.967929 9063 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 30 Cauda equina syndrome 0.00116 1.5272 0.47 Dysphagia 0.0001742 2.085 0.555 CCDC151 rs61739927 19:11430719:G:C 19 11430719 G C 19:11541539 0.989704 1789 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia, primary, 30 Unspecified chronic bronchitis 0.0013 2.0211 0.6286 COPD related to chronic (opportunist) infections 0.000896 102.289 30.798 CCDC151 rs143192349 19:11431011:C:T 19 11431011 C T 19:11541831 0.890469 514 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Thyroiditis, unspecified 0.00162 6.7839 2.1525 CCDC151 rs61741137 19:11434844:A:G 19 11434844 A G 19:11545665 0.930905 1772 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia, primary, 30;not specified Metabolic disorders 0.000944 0.2876 0.087 Dependence on enabling machines and devices, not elsewhere classified 0.0005651 107.969 31.315 CCDC151 rs143295007 19:11434869:G:A 19 11434869 G A 19:11545690 0.991682 6009 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia, primary, 30;not provided Injury of urinary and pelvic organs 0.000237 1.6532 0.4497 Femoral hernia, unilateral 0.000284 7.393 2.037 PRKCSH rs143936796 19:11436201:GTCC:G 19 11436201 GTCC G 19:11547022 0.971418 25835 inframe_indel dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polycystic liver disease 1;not specified Habitual aborter 0.000533 -0.7209 0.2081 Seropositive rheumatoid arthritis, wide 1.556e-05 0.508 0.118 PRKCSH rs139991238 19:11441305:G:A 19 11441305 G A 19:11552120 0.970159 2250 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Polycystic liver disease 1;not provided Depression medications 0.000556 -0.2458 0.0712 Disorders of porphyrin and bilirubin metabolism 0.000445 184.532 52.546 PRKCSH rs151207349 19:11441343:C:T 19 11441343 C T 19:11552158 0.955829 0.000593378 0 218 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Poisoning by medicine 8.55e-05 2.5499 0.6491 PRKCSH rs11557488 19:11447460:G:A 19 11447460 G A 19:11558275 0.986439 0.283343 29556 74541 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified acne 3.72e-05 0.6395 0.1551 Other and unspecified acne 0.001348 0.608 0.19 PRKCSH rs34351170 19:11449092:A:G 19 11449092 A G 19:11559907 0.99277 1806 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polycystic liver disease 1;not specified Unspecified chronic bronchitis 0.00141 1.9813 0.6208 COPD related to chronic (opportunist) infections 0.0008252 103.5 30.949 PRKCSH rs371330547 19:11449175:CGT:C 19 11449175 CGT C 19:11559990 0.97776 0.000590656 0 217 pLoF dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Other congenital malformations of the digestive system 5.68e-31 45.1912 3.9051 ACP5 rs147115345 19:11575127:G:A 19 11575127 G A 19:11685942 0.947358 255 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of brain (other cancers excluded from controls) 0.000138 7.384 1.9371 ACP5 rs147025508 19:11575174:G:A 19 11575174 G A 19:11685989 0.977017 0.00251777 6 919 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Spondyloenchondrodysplasia with immune dysregulation;not provided;not specified KELA_REIMBURSEMENT_202 1.24e-05 0.7798 0.1784 Other disorders of prostate 0.001056 79.706 24.337 ACP5 rs2229531 19:11576380:C:T 19 11576380 C T 19:11687195 0.998668 41502 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Allergic urticaria 0.00108 -0.2311 0.0707 Other and unspecified disorders of skin and subcutaneous tissue 0.0001723 0.536 0.143 ACP5 rs2305799 19:11576536:C:T 19 11576536 C T 19:11687351 0.999101 45473 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Allergic urticaria 0.000715 -0.2286 0.0675 Crohn disease ( strict definition, require KELA, min 2 HDR) 0.0009157 0.514 0.155 ZNF440 rs424132 19:11830406:T:A 19 11830406 T A 19:11941221 0.999502 81650 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Entropion and trichiasis of eyelid 0.00136 0.1742 0.0544 Entropion and trichiasis of eyelid 9.642e-06 0.26 0.059 ZNF763 rs7249379 19:11978549:G:T 19 11978549 G T 19:12089364 0.998317 2472 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries of upper limb 0.000446 0.9825 0.2798 Calcaneal spur 0.0007196 97.83 28.926 ZNF844 rs748349305 19:12076155:ATTATC:A 19 12076155 ATTATC A 19:12186970 0.983428 873 LC unknown not provided not_provided no assertion provided none Mixed hyperlipidaemia 0.000265 3.4677 0.9507 ZNF44 rs142288021 19:12273596:G:A 19 12273596 G A 19:12384411 0.950165 873 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Beningn neoplasm: Meninges, unspecified 0.000258 6.4191 1.7569 ZNF44 rs137984148 19:12275985:C:G 19 12275985 C G 19:12386800 0.949719 865 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Beningn neoplasm: Meninges, unspecified 0.000242 6.5202 1.7765 MAN2B1 rs142702682 19:12649171:C:A 19 12649171 C A 19:12759985 0.99211 547 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Connective and other soft tissue, unspecified (other cancers excluded from controls) 0.000173 10.1687 2.7073 MAN2B1 rs75029862 19:12652193:G:A 19 12652193 G A 19:12763007 0.968832 294 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Wegener granulomatosis 0.000825 10.4749 3.1322 MAN2B1 rs145062583 19:12655702:C:T 19 12655702 C T 19:12766516 0.989038 2298 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Protozoal diseases 0.00101 2.3575 0.7169 Emotional disorders starting during childhood or adolecense 0.0004277 168.796 47.921 MAN2B1 rs34544747 19:12657035:C:A 19 12657035 C A 19:12767849 0.913922 553 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deficiency of alpha-mannosidase;not provided;not specified Myeloid leukaemia 0.000227 7.3317 1.9888 Injury of muscle and tendon at ankle and foot level 0.004293 187.998 65.831 MAN2B1 rs767199154 19:12657041:C:A 19 12657041 C A 19:12767855 0.936644 146 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pain (limb, back, neck, head abdominally) 0.00144 -0.5643 0.1771 MAN2B1 rs35836657 19:12658134:T:C 19 12658134 T C 19:12768948 0.989203 55996 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Obsessive-compulsive disorder 0.000964 0.2196 0.0665 Ovarian dysfunction 7.69e-05 0.451 0.114 MAN2B1 rs1133330 19:12661276:C:T 19 12661276 C T 19:12772090 0.999234 76599 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified haematuria 0.000314 -0.0822 0.0228 Disorders of choroid and retina 0.0002383 -0.062 0.017 MAN2B1 rs1054487 19:12661351:G:A 19 12661351 G A 19:12772165 0.997393 77782 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified haematuria 0.000176 -0.085 0.0226 Disorders of choroid and retina 7.901e-05 -0.065 0.017 MAN2B1 rs45576136 19:12663382:G:A 19 12663382 G A 19:12774196 0.998129 1402 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Problems related to certain psychosocial circumstances 0.000111 1.3503 0.3494 Femoral hernia, unilateral 0.000496 154.296 44.301 MAN2B1 rs1054486 19:12663394:G:C 19 12663394 G C 19:12774208 0.993748 82199 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hydrocele 0.00141 -0.1082 0.0339 Antenatal screening 0.0004979 -0.054 0.016 MAN2B1 rs117843968 19:12663723:G:A 19 12663723 G A 19:12774537 0.960289 359 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injury of intra-abdominal organs 0.000418 8.0014 2.2675 MAN2B1 rs201448121 19:12663748:G:A 19 12663748 G A 19:12774562 0.91388 261 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of thyroid gland (other cancers excluded from controls) 0.000418 8.154 2.3108 DHPS rs142633494 19:12676016:C:T 19 12676016 C T 19:12786830 0.977254 0.000655982 2 239 pLoF unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pure hypercholesterolaemia 7.86e-07 1.9502 0.3949 HOOK2 rs189241336 19:12763569:C:T 19 12763569 C T 19:12874383 0.950381 890 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Outcome of delivery 0.000358 0.8709 0.244 HOOK2 rs35979347 19:12767435:C:G 19 12767435 C G 19:12878249 0.97851 0.00849511 44 3077 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effects of substances chiefly nonmedicinal as to source 8.11e-06 0.9971 0.2235 Other and unspecified mononeuropathies of upper limb 0.0001409 25.308 6.649 RNASEH2A rs781284373 19:12810354:TG:T 19 12810354 TG T 19:12921168 0.981903 247 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Total colectomy operation 4e-04 8.0806 2.2828 RNASEH2A rs7247284 19:12810372:T:C 19 12810372 T C 19:12921186 0.998525 9924 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aicardi Goutieres syndrome;Aicardi Goutieres syndrome 4;not specified Statin medication 0.000496 -0.1025 0.0294 Problems related to housing and economic circumstances 0.0004703 5.94 1.699 RNASEH2A rs62619782 19:12810382:T:A 19 12810382 T A 19:12921196 0.998066 0.00160321 8 581 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aicardi Goutieres syndrome;Aicardi Goutieres syndrome 4;not provided Hypertrichosis 1.28e-05 9.5174 2.1811 Injury of muscle and tendon at ankle and foot level 0.0006597 121.141 35.569 KLF1 rs530729436 19:12885601:G:C 19 12885601 G C 19:12996415 0.941121 632 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital dyserythropoietic anemia Status epilepticus 0.000687 3.8748 1.1414 Chronic sinusitis 4.561e-07 7.165 1.42 KLF1 rs2072596 19:12885686:A:G 19 12885686 A G 19:12996500 0.997164 0.0142438 102 5131 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital dyserythropoietic anemia Scar conditions and fibrosis of skin 3.02e-06 1.6872 0.3614 Cushing syndrome 0.0004121 18.067 5.115 KLF1 rs772655521 19:12885752:C:T 19 12885752 C T 19:12996566 0.952512 692 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital dyserythropoietic anemia Type 1 diabetes with peripheral circulatory complications 0.000842 3.8133 1.1422 Statin medication 0 2.516 0 KLF1 rs182276666 19:12885919:G:A 19 12885919 G A 19:12996733 0.830011 250 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of middle ear and respiratory system 0.00178 4.1676 1.3338 KLF1 rs2072597 19:12885926:A:G 19 12885926 A G 19:12996740 0.998185 84924 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter ILD Co-morbidites, CVD and metabolic diseases 0.000304 0.0342 0.0095 Traumatic subarachnoid haemorrhage 0.0008538 0.304 0.091 KLF1 rs112631212 19:12886115:T:G 19 12886115 T G 19:12996929 0.984339 0.00161138 8 584 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital dyserythropoietic anemia Hypertrichosis 1.11e-05 9.7744 2.2238 Injury of muscle and tendon at ankle and foot level 0.0006597 121.141 35.569 GCDH rs3745647 19:12891570:T:C 19 12891570 T C 19:13002384 0.954883 0.0151665 110 5462 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Scar conditions and fibrosis of skin 1.22e-05 1.4949 0.3417 Cushing syndrome 0.0004969 16.375 4.702 GCDH rs149120354 19:12896058:T:C 19 12896058 T C 19:13006872 0.844937 59 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mood disorders 0.00061 1.7812 0.5198 GCDH rs121434369 19:12897824:C:T 19 12897824 C T 19:13008638 0.911394 206 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypo-osmolality and hyponatraemia 0.000399 3.1979 0.9031 GCDH rs8012 19:12899706:A:G 19 12899706 A G 19:13010520 0.999172 91082 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinal vascular disorders 0.000227 0.1496 0.0406 0.0004998 -0.032 0.009 NFIX rs148229471 19:13025110:G:A 19 13025110 G A 19:13135924 0.982644 0.00106971 0 393 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified epidermal thickening 6.43e-05 8.8464 2.2136 CACNA1A rs16052 19:13208877:GGATGGTGGT:G 19 13208877 GGATGGTGGT G 19:13319691 0.816705 1204 inframe_indel dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;not specified Haemolytic anaemias 0.000623 3.0846 0.9016 Alopecia areata 0.0002532 180.056 49.21 CACNA1A rs375415852 19:13285153:CCTT:C 19 13285153 CCTT C 19:13395967 0.985096 4116 inframe_indel dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Occupational exposure to risk-factors 0.000125 1.7286 0.4505 Benign neoplasm: Skin of upper limb, including shoulder 0.0002367 21.046 5.725 CACNA1A rs16027 19:13286746:C:T 19 13286746 C T 19:13397560 0.989979 0.0858003 2870 28652 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Episodic ataxia type 2;Familial hemiplegic migraine type 1;History of neurodevelopmental disorder;not provided;not specified Foreign body in ear 3.78e-05 0.8659 0.2102 Medial epicondylitis 0.0002687 1.219 0.334 CACNA1A rs199512932 19:13286829:G:A 19 13286829 G A 19:13397643 0.955655 188 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Anaemia in chronic diseases classified elsewhere 0.000765 24.4584 7.2679 CACNA1A rs16024 19:13298593:C:T 19 13298593 C T 19:13409407 0.993459 442 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hidradenitis suppurativa 0.000184 6.9363 1.8547 CACNA1A rs16023 19:13298658:T:A 19 13298658 T A 19:13409472 0.991503 39677 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to medical facilities and other health care 0.000698 0.3016 0.089 Labour and delivery complicated by intrapartum haemorrhage, not elsewhere classified 0.0003456 1.602 0.448 CACNA1A rs16022 19:13298882:C:G 19 13298882 C G 19:13409696 0.991506 39571 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to medical facilities and other health care 0.000617 0.305 0.0891 Labour and delivery complicated by intrapartum haemorrhage, not elsewhere classified 0.0003276 1.618 0.45 CACNA1A rs16019 19:13300637:T:G 19 13300637 T G 19:13411451 0.995135 7203 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;History of neurodevelopmental disorder;not specified Schizophrenia or delusion (more controls excluded) 0.000663 0.3413 0.1003 Burns and corrosions of external body surface, specified by site 0.0006827 3.457 1.018 CACNA1A rs41276886 19:13317310:C:T 19 13317310 C T 19:13428124 0.990442 7156 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 42;Episodic ataxia type 2;History of neurodevelopmental disorder;not provided;not specified Complications of labour and delivery 0.000697 -0.1552 0.0458 Lung diseases due to external agents 0.0006125 3.51 1.025 MRI1 rs200063247 19:13765090:G:A 19 13765090 G A 19:13875904 0.800679 116 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute otitis externa, noninfective 0.0012 17.4982 5.4043 MRI1 rs139306023 19:13772220:G:A 19 13772220 G A 19:13883034 0.976438 198 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cleft lip and cleft palate 0.000317 18.14 5.037 CC2D1A rs755038966 19:13906455:A:AAGGACCCCC 19 13906455 A AAGGACCCCC 19:14017268 0.896007 270 inframe_indel recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Actinic keratosis 0.000249 2.0314 0.5546 CC2D1A rs187912873 19:13912411:C:G 19 13912411 C G 19:14023224 0.960523 1400 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the digestive system and abdomen 0.000509 0.2226 0.064 Juvenile osteochondrosis 0.0006995 114.651 33.822 CC2D1A rs61740117 19:13913456:C:T 19 13913456 C T 19:14024269 0.98894 1664 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;not specified Lesion of radial nerve 1e-04 2.3932 0.6151 Cellulitis 4.135e-05 43.183 10.533 CC2D1A rs200121704 19:13918779:C:T 19 13918779 C T 19:14029592 0.940721 953 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vertical strabismus 0.00046 3.6269 1.0354 CC2D1A rs199644216 19:13919940:G:A 19 13919940 G A 19:14030753 0.977511 548 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Inflammatory disorders of breast 0.000841 3.1911 0.9557 CC2D1A rs202057391 19:13923430:C:T 19 13923430 C T 19:14034243 0.991937 2884 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl History of neurodevelopmental disorder;Smith-Magenis Syndrome-like;not provided;not specified Benign neoplasm of middle ear and respiratory system 0.000323 1.123 0.3123 Erosion and ectropion of cervix uteri 0.0002014 17.374 4.674 CC2D1A rs77389229 19:13927918:G:C 19 13927918 G C 19:14038731 0.936568 93 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Liver 0.000938 21.6682 6.5493 CC2D1A rs2305777 19:13927978:C:T 19 13927978 C T 19:14038791 0.993673 70774 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of corpus uteri (other cancers excluded from controls) 0.00106 -0.1834 0.056 Acute suppurative otitis media 0.001844 -0.102 0.033 CC2D1A rs11669628 19:13930083:G:A 19 13930083 G A 19:14040896 0.985014 47425 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Generalized anxiety disorder 0.000358 0.1843 0.0517 Pre-eclampsia or eclampsia 0.0001958 0.233 0.062 RLN3 rs141281562 19:14028292:T:C 19 14028292 T C 19:14139104 0.9685 1319 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries of neck and trunk 0.000596 3.1229 0.9096 Injuries to the hip and thigh 0.0006688 8.361 2.458 IL27RA rs113485753 19:14042460:C:T 19 14042460 C T 19:14153272 0.976014 4207 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system 0.00111 1.9528 0.5988 Primary_lymphoid and hematopoietic malignant neoplasms (other cancers excluded from controls) 8.439e-05 4.129 1.05 IL27RA rs149202847 19:14046519:C:T 19 14046519 C T 19:14157331 0.978184 1561 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Senile cataract 0.0013 -0.3337 0.1038 Metabolic disorders 0.0001443 7.256 1.909 PALM3 rs185854216 19:14055061:C:A 19 14055061 C A 19:14165873 0.961642 995 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.000209 0.9934 0.2679 GIPC1 rs147583484 19:14479503:G:A 19 14479503 G A 19:14590315 0.973258 3359 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Giant cell arteritis 0.00176 1.4232 0.455 Melanoma in situ (other cancers excluded from controls) 0.0001762 22.55 6.012 ILVBL rs34963992 19:15123533:G:A 19 15123533 G A 19:15234344 0.958673 1546 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic laryngitis and laryngotracheitis 0.00012 1.0997 0.2859 Presence of cardiac and vascular implants and grafts 0.001895 4.202 1.353 NOTCH3 rs1044009 19:15160960:G:A 19 15160960 G A 19:15271771 0.996325 55249 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes insipidus 0.00208 0.5323 0.1729 Lesion of radial nerve 0.002339 0.157 0.052 NOTCH3 rs4809029 19:15162437:A:C 19 15162437 A C 19:15273248 0.998226 36057 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emphysema 0.000399 -0.3647 0.103 Emphysema 0.001244 -0.181 0.056 NOTCH3 rs115582213 19:15162524:C:T 19 15162524 C T 19:15273335 0.994503 6632 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not provided;not specified Benign neoplasm: Short bones of upper limb (other cancers excluded from controls) 0.000749 1.546 0.4586 Benign neoplasm: Long bones of lower limb (other cancers excluded from controls) 0.0009252 11.161 3.37 NOTCH3 rs150037063 19:15174165:G:C 19 15174165 G C 19:15284976 0.839655 308 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Patellar tendinitis 0.00083 10.2209 3.0577 NOTCH3 rs10408676 19:15179196:C:T 19 15179196 C T 19:15290007 0.996599 986 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified Substance abuse 0.000647 0.5567 0.1632 Otherdisorders of bone 0.0006239 11.989 3.505 NOTCH3 rs112197217 19:15179425:G:T 19 15179425 G T 19:15290236 0.987384 6949 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified Complications predominantly related to the puerperium 0.00154 0.382 0.1206 Malignant neoplasm of lip, oral cavity and pharynx 0.0004178 17.844 5.057 NOTCH3 rs35769976 19:15180765:C:G 19 15180765 C G 19:15291576 0.998959 5487 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified Other specified disorders of external ear 0.00138 1.0276 0.3213 Nausea and vomiting 2.815e-05 2.904 0.693 NOTCH3 rs201147300 19:15181151:T:C 19 15181151 T C 19:15291962 0.919298 0.00171209 4 625 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursitis of knee 6.12e-06 11.7058 2.5885 Bulimia nervosa (incl. atypical) 0.0001351 410.25 107.48 NOTCH3 rs114207045 19:15188237:G:A 19 15188237 G A 19:15299048 0.999113 4528 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified Nausea and vomiting 0.000199 0.4451 0.1196 Nausea and vomiting 0.001261 2.752 0.853 NOTCH3 rs11670799 19:15188240:G:A 19 15188240 G A 19:15299051 0.960852 1640 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;not specified Other specified and unspecified personality disorders 0.000641 1.0211 0.2991 Secondary parkinsonism (more controls excluded) 0.0001541 324.765 85.819 BRD4 rs113881069 19:15238953:C:G 19 15238953 C G 19:15349764 0.945178 1282 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of shoulder and upper arm 0.000522 0.6653 0.1918 Osteomyelitis 5.655e-05 35.086 8.713 AKAP8 rs45479794 19:15372326:G:A 19 15372326 G A 19:15483137 0.992985 4884 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Subacute thyroiditis 0.000311 1.3263 0.3678 Other metabolic disorders 0.0004138 6.404 1.814 AKAP8 rs144582281 19:15372940:C:T 19 15372940 C T 19:15483751 0.940956 804 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Von Willebrand disease 0.000604 7.1909 2.0967 AKAP8 rs200383217 19:15373036:C:T 19 15373036 C T 19:15483847 0.807958 99 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified (FINNGEN) 0.000471 1.5889 0.4544 AKAP8 rs111389458 19:15373095:C:T 19 15373095 C T 19:15483906 0.961048 4184 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paraplegia, diplegia of upper limbs 0.00104 1.6208 0.4944 Diabetic nephropathy 2.428e-05 6.069 1.438 AKAP8 rs148526102 19:15373212:C:T 19 15373212 C T 19:15484023 0.99752 7861 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma (only as main-diagnosis) (more controls excluded) 0.000133 0.1779 0.0466 Benign neoplasm: Rectosigmoid junction (other cancers excluded from controls) 0.0001851 8.549 2.287 CYP4F22 rs16980531 19:15537645:A:T 19 15537645 A T 19:15648456 0.941151 128 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hearing loss 0.000401 3.2956 0.9311 CYP4F22 rs199892192 19:15537989:C:T 19 15537989 C T 19:15648800 0.979554 319 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other epidermal thickening 0.000559 5.5458 1.6072 CYP4F3 rs28371536 19:15650073:G:A 19 15650073 G A 19:15760883 0.986144 0.0129264 78 4671 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enterocolitis due to Clostridium difficile 8.21e-05 0.8057 0.2046 Other specified disorders of kidney and ureter 0.0006439 13.056 3.826 OR10H5 rs61738869 19:15794658:T:G 19 15794658 T G 19:15905468 0.998631 18989 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supervision of normal pregnancy 0.000287 -0.1201 0.0331 Excessive, freguent and irrelgular menstruation 0.0001581 0.336 0.089 OR10H5 rs62106066 19:15794695:T:C 19 15794695 T C 19:15905505 0.998644 18989 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supervision of normal pregnancy 0.000287 -0.1201 0.0331 Excessive, freguent and irrelgular menstruation 0.0001579 0.336 0.089 OR10H1 rs4808382 19:15807844:G:A 19 15807844 G A 19:15918654 0.997353 63811 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified hydrocephalus 0.000398 0.5546 0.1566 Von Willebrand disease 0.0006017 0.797 0.232 OR10H1 rs61746478 19:15807884:C:G 19 15807884 C G 19:15918694 0.953403 452 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intrahepatic Cholestasis of Pregnancy (ICP) 0.000634 3.031 0.8871 CYP4F2 rs2108622 19:15879621:C:T 19 15879621 C T 19:15990431 0.999817 57785 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Autism spe (more controls excluded) 0.000403 -0.5132 0.145 Other anxiety disorders 2.738e-05 0.148 0.035 CYP4F2 rs145174239 19:15886018:G:C 19 15886018 G C 19:15996828 0.989034 0.00123303 0 453 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Family history of certain disabilities and chronic diseases leading to disablement 1.9e-05 6.5705 1.5365 HSH2D rs1870354 19:16153136:C:T 19 16153136 C T 19:16263946 0.962928 134 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Undetermined asthma (more controls excluded) 0.00113 4.3937 1.3493 CALR3 rs12459238 19:16482548:C:T 19 16482548 C T 19:16593359 0.999427 0.00371814 10 1356 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 19;not provided;not specified Toxic effect of carbon monoxide 9.09e-05 5.0088 1.2799 Pre-existing hypertension complicating pregnancy, childbirth and the puerperium 0.002793 33.378 11.164 SIN3B rs61754499 19:16851481:A:G 19 16851481 A G 19:16962292 0.989936 0.00910482 22 3323 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Follow-up examination after treatment for malignant neoplasms 8.38e-05 0.9315 0.2368 Injuries to the wrist and hand 0.0004751 2.371 0.678 CPAMD8 rs144048982 19:16897796:C:G 19 16897796 C G 19:17008607 0.968953 176 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm 0.00092 0.7334 0.2213 CPAMD8 rs200705564 19:16897985:G:C 19 16897985 G C 19:17008796 0.960922 813 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Venous thromboembolism 0.00136 0.6785 0.2118 CPAMD8 rs62622858 19:16997242:C:T 19 16997242 C T 19:17108052 0.995692 0.0442203 738 15508 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute and subacute iridocyclitis 8.19e-05 0.2858 0.0726 Impotence 0.0002225 2.528 0.685 CPAMD8 rs61744199 19:16997317:C:T 19 16997317 C T 19:17108127 0.981063 914 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of pericardium 0.000873 3.1564 0.9483 Cholelithiasis, broad definition with cholecystitis 0 4.989 0 CPAMD8 rs201964890 19:17000473:C:T 19 17000473 C T 19:17111283 0.982412 0.00709332 6 2600 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other meningitis 6.14e-05 3.8403 0.9583 Intermittent heterotropia 0.00239 35.421 11.663 MYO9B rs117099942 19:17200417:G:A 19 17200417 G A 19:17311226 0.980342 10964 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other disorders of pigmentation 2e-04 0.7845 0.2109 Pyogenic arthritis 3.252e-05 2.958 0.712 MYO9B rs199695802 19:17211769:C:T 19 17211769 C T 19:17322578 0.95338 0.00773297 46 2795 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lumbosacral root disorders, not elsewhere classified 4.51e-05 2.9272 0.7175 Hallux rigidus 0.0006404 4.469 1.309 GTPBP3 rs1864112 19:17338152:A:C 19 17338152 A C 19:17448961 0.998985 0.801828 236694 57888 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed hyperlipidaemia 1.81e-05 0.391 0.0912 Mixed hyperlipidaemia 5.523e-06 0.244 0.054 GTPBP3 rs3810206 19:17339207:T:C 19 17339207 T C 19:17450016 0.998962 0.801839 236708 57878 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed hyperlipidaemia 1.81e-05 0.391 0.0912 Mixed hyperlipidaemia 5.561e-06 0.244 0.054 GTPBP3 rs3745193 19:17341172:G:A 19 17341172 G A 19:17451981 0.986482 0.0328236 466 11593 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Circumscribed brain atrophy 8.5e-05 1.2681 0.3227 Parapsoriasis 0.0009269 4.992 1.507 PLVAP rs117691659 19:17360825:G:A 19 17360825 G A 19:17471634 0.931799 1233 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ingrowing nail 0.000456 2.0834 0.5943 Bacterial pneumonia, not elsewhere classified 0.0002729 5.817 1.598 B3GNT3 rs76106223 19:17811959:C:T 19 17811959 C T 19:17922768 0.974372 0.00125753 2 460 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injuries involving multiple body regions 7.79e-05 8.641 2.1871 JAK3 rs200077579 19:17832681:G:A 19 17832681 G A 19:17943490 0.92521 129 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other diseases of biliary tract 0.000607 6.4103 1.8696 JAK3 rs3213409 19:17834887:C:T 19 17834887 C T 19:17945696 0.984169 0.00558538 12 2040 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute megakaryoblastic leukemia;Lymphoblastic leukemia, acute, with lymphomatous features;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;not specified Benign neoplasm: Peripheral nerves and autonomic nervous system (other cancers excluded from controls) 9.32e-05 4.1997 1.0747 Ankylosing spondylitis, strict definition 0.002576 37.055 12.293 JAK3 rs55778349 19:17843141:G:C 19 17843141 G C 19:17953950 0.98704 3112 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Severe combined immunodeficiency disease;Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative;not provided;not specified Benign neoplasm: Colon (other cancers excluded from controls) 0.000368 0.4057 0.1139 Eosinophilia 0.0006494 121.405 35.602 IL12RB1 rs202106699 19:18059917:C:T 19 18059917 C T 19:18170727 0.959591 0.000302133 0 111 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unsepcified mononeuropathies, also in other diseases 1.54e-05 18.8792 4.3667 IL12RB1 rs143367415 19:18059998:C:T 19 18059998 C T 19:18170808 0.981347 312 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cyst of Bartholin Gland 0.000526 5.4225 1.564 IL12RB1 rs145590794 19:18060064:C:A 19 18060064 C A 19:18170874 0.996558 1976 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 30 Other articular cartilage disorders 0.000405 2.0979 0.5931 Chronic ulcer of skin, not elsewhere classified 0.0002557 18.517 5.064 IL12RB1 rs401502 19:18069603:C:G 19 18069603 C G 19:18180413 0.999498 79933 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic multinodular goitre 0.000458 -0.1073 0.0306 0.0004894 0.028 0.008 IL12RB1 rs375947 19:18069641:A:G 19 18069641 A G 19:18180451 0.99952 79929 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic multinodular goitre 0.000464 -0.1072 0.0306 0.0005817 0.027 0.008 IL12RB1 rs117511121 19:18072285:C:T 19 18072285 C T 19:18183095 0.99613 4791 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Immunodeficiency 30 Malignant neoplasm of eye and adnexa 0.000391 2.3056 0.6502 Causalgia 0.0001419 25.708 6.757 IL12RB1 rs200203598 19:18073569:G:A 19 18073569 G A 19:18184379 0.924295 129 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of eyelid, including canthus 0.000663 25.9971 7.636 IL12RB1 rs11575934 19:18075808:T:C 19 18075808 T C 19:18186618 0.999789 79973 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic multinodular goitre 0.00061 -0.105 0.0306 0.0004241 0.028 0.008 IL12RB1 rs11575926 19:18077598:C:T 19 18077598 C T 19:18188408 0.99553 0.181206 12046 54527 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Foreign body on external eye 1.2e-05 0.193 0.0441 Endometriosis of pelvic peritoneum 0.001329 0.199 0.062 IL12RB1 rs11575925 19:18082167:G:C 19 18082167 G C 19:18192977 0.939602 1273 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Immunodeficiency 30;not provided Benign neoplasm: Anus and anal canal (other cancers excluded from controls) 0.00114 2.8956 0.8898 Other disorders starting during childhood or adolecense 0.002841 28.624 9.591 IL12RB1 rs393548 19:18086934:T:A 19 18086934 T A 19:18197744 0.996156 0.215296 17036 62061 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Effects of foreign body entering through natural orifice 2.96e-05 0.131 0.0314 Epilepsy 0.0006563 0.122 0.036 PIK3R2 rs201370957 19:18156039:G:A 19 18156039 G A 19:18266849 0.944349 669 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute nasopharyngitis(common cold) 0.000401 1.6633 0.4699 PIK3R2 rs1011320 19:18162237:T:C 19 18162237 T C 19:18273047 0.985009 16697 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-allergic asthma 0.000238 0.2528 0.0688 Non-allergic asthma 0.0002483 0.131 0.036 PIK3R2 rs149081991 19:18169286:G:A 19 18169286 G A 19:18280096 0.988767 23164 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 Diseases of spleen 0.000914 0.9359 0.2823 Retained placenta and membranes, without haemorrhage 0.0004418 1.028 0.292 ISYNA1 rs61743938 19:18436454:C:T 19 18436454 C T 19:18547264 0.99542 2652 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degeneration of macula and posterior pole 0.000172 0.4864 0.1294 Hyperprolactinaemia 0.0001989 20.806 5.592 CRLF1 rs146027258 19:18599606:C:T 19 18599606 C T 19:18710416 0.991781 1214 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Traumatic ischaemia of muscle 0.000252 5.0506 1.3797 Malnutrition 0.0005602 175.889 50.98 COMP rs61739916 19:18786630:T:C 19 18786630 T C 19:18897440 0.996255 0.0322493 414 11434 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant;Multiple epiphyseal dysplasia 1;Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome;not specified Other abnormal uterine and caginal bleeding 3.19e-06 0.2942 0.0632 Other headache syndromes 0.001233 0.714 0.221 UPF1 rs140671518 19:18865675:C:T 19 18865675 C T 19:18976484 0.97781 1947 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic sinusitis 0.00124 0.4241 0.1313 Meniere disease 2.717e-05 45.938 10.948 GDF1 rs4808863 19:18869363:G:A 19 18869363 G A 19:18980172 0.997503 83246 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Soft tissue disorders 0.00116 0.0298 0.0092 Sixth [abducent] nerve palsy 0.0007159 0.31 0.092 RFXANK rs34282046 19:19194090:G:C 19 19194090 G C 19:19304899 0.9974 8888 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter MHC Class II Deficiency;not specified Benign neoplasm of brain and other parts of central nervous system (other cancers excluded from controls) 0.000618 0.5984 0.1748 Prolapse and hernia of ovary and fallopian tube 0.0005079 5.305 1.526 RFXANK rs1802498 19:19201687:C:G 19 19201687 C G 19:19312496 0.994871 2445 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bare lymphocyte syndrome 2;MHC Class II Deficiency Other disorders of ear 0.000499 -0.2492 0.0716 Type 1 diabetes with renal complications 0.000861 7.328 2.199 NCAN rs146011974 19:19233884:G:A 19 19233884 G A 19:19344693 0.895994 0.000206866 0 76 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Other symptoms and signs involving cognitive functions and awareness 8.12e-05 3.5114 0.891 MAU2 rs749913428 19:19320880:AGCGGCCCAGGCGGCG:A 19 19320880 AGCGGCCCAGGCGGCG A 19:19431689 0.979991 3552 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-invasive ventilation 0.000209 1.5964 0.4306 Oesophageal obstruction 0.0004392 15.067 4.286 LPAR2 rs145986311 19:19626578:G:A 19 19626578 G A 19:19737387 0.99459 6803 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other localized connective tissue disorders 0.000922 1.4122 0.4262 Other localized connective tissue disorders 0.0006444 13.359 3.915 ATP13A1 rs144612212 19:19645978:G:C 19 19645978 G C 19:19756787 0.927399 328 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of parathyroid gland 0.000271 2.0269 0.5565 ATP13A1 rs74497425 19:19646264:A:C 19 19646264 A C 19:19757073 0.993578 967 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of ethanol 0.000407 2.4995 0.707 ATP13A1 rs45522544 19:19654690:C:T 19 19654690 C T 19:19765499 0.97214 519 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Isolated proteinuria with specified morphological lesion 0.00156 5.4407 1.7197 ZNF253 rs77010331 19:19891764:A:G 19 19891764 A G 19:20002573 0.987328 0.00566703 16 2066 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of amniotic fluid and membranes 9.43e-06 1.2795 0.2888 0.0008733 90.808 27.282 ZNF100 rs138292237 19:21727323:G:T 19 21727323 G T 19:21910125 0.980275 4565 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for known or suspected disproportion 0.000102 1.2606 0.3244 3.6e-05 5.908 1.43 ZNF99 rs200518184 19:22757390:A:AG 19 22757390 A AG 19:22940192 0.999031 0.0799972 2448 26942 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cholelithiasis, broad definition with cholecystitis 2.93e-05 -0.101 0.0242 Abnormal findings on examination of other body fluids, substances and tissues, without diagnosis 0.0006133 -0.256 0.075 C19orf12 rs73023451 19:29702725:T:C 19 29702725 T C 19:30193632 0.982744 855 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Suppurative otitis media, unspecified 0.000332 3.8883 1.0834 C19orf12 rs79915936 19:29702746:T:G 19 29702746 T G 19:30193653 0.998781 0.00323908 6 1184 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neurodegeneration with brain iron accumulation 4;Spastic paraplegia 43, autosomal recessive;not specified Ovarian cyst 5.02e-05 -0.6173 0.1522 0 8.425 0 C19orf12 rs146492790 19:29702825:C:T 19 29702825 C T 19:30193732 0.957332 0.00087918 0 323 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Liver/bile ducts 9.85e-05 10.7302 2.7554 ZNF536 rs143550497 19:30548350:G:A 19 30548350 G A 19:31039257 0.990205 397 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Allergic asthma (mode) 0.000369 1.4787 0.4152 ZNF536 rs77238711 19:30548762:C:T 19 30548762 C T 19:31039669 0.998807 0.0220829 234 7879 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Eating disorders 8.95e-06 0.6016 0.1355 Dysplasia of cervi uteri 0.0001351 1.841 0.482 ZNF536 rs146045772 19:30549319:C:G 19 30549319 C G 19:31040226 0.843164 0.000683201 2 249 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the eye and adnexa 8.33e-05 0.586 0.1489 RGS9BP rs259290 19:32676549:G:T 19 32676549 G T 19:33167455 0.993421 87401 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emotionally unstable personality disorder 0.000852 0.1169 0.035 Emotionally unstable personality disorder 0.0002733 0.091 0.025 RGS9BP rs35413309 19:32676931:C:T 19 32676931 C T 19:33167837 0.999143 11888 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Phakomatoses, not elsewhere classified 0.00266 1.1627 0.387 Pain in thoracic spine 0.000479 1.532 0.439 SLC7A9 rs147344717 19:32859885:C:T 19 32859885 C T 19:33350791 0.914844 323 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast 0.00173 2.6496 0.8457 SLC7A9 rs1007160 19:32862155:G:T 19 32862155 G T 19:33353061 0.996439 85211 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Male infertility 0.00073 -0.2292 0.0678 Injury of muscle and tendon at hip and thigh level 0.0005937 0.181 0.053 SLC7A9 rs79389353 19:32862521:C:T 19 32862521 C T 19:33353427 0.971943 256 missense_variant both Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.00107 -0.7104 0.2172 SLC7A9 rs12150889 19:32864149:A:G 19 32864149 A G 19:33355055 0.99644 85723 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Male infertility 0.000527 -0.2346 0.0677 Other and unspecified myopathies 0.0007986 0.172 0.051 CEP89 rs142812224 19:32887790:T:C 19 32887790 T C 19:33378696 0.972828 1748 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Allergic urticaria 0.00034 1.3331 0.3721 Obesity related asthma 5.888e-05 9.427 2.347 FAAP24 rs36017455 19:32974193:C:T 19 32974193 C T 19:33465099 0.936204 114 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of wrist and hand 0.000191 16.9465 4.5423 RHPN2 rs79314177 19:32991915:G:A 19 32991915 G A 19:33482821 0.981401 3955 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Unspecified fall 0.000347 2.8781 0.8045 Gastric ulcer 0.004506 4.702 1.656 GPATCH1 rs73039449 19:33125171:C:T 19 33125171 C T 19:33616077 0.992214 1086 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polycythaemia vera 0.000144 3.908 1.0279 Small cell lung cancer 0.0004073 183.515 51.909 PEPD rs17570 19:33387931:G:A 19 33387931 G A 19:33878837 0.998175 66727 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thyroiditis 0.00142 0.1953 0.0612 Trigeminal neuralgia 0.0007484 0.302 0.09 PEPD rs142070498 19:33387978:T:C 19 33387978 T C 19:33878884 0.985619 2819 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Traumatic subarachnoid haemorrhage 0.000207 2.1701 0.5848 Radial styloid tenosynovitis [de Quervain] 0.0007446 11.697 3.468 PEPD rs2230062 19:33388071:C:T 19 33388071 C T 19:33878977 0.988216 1793 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Prolidase deficiency;not provided Other degenerative diseases of the nervous system 0.000438 0.6465 0.1839 0.002436 39.087 12.895 CHST8 rs149660944 19:33772017:C:T 19 33772017 C T 19:34262922 0.927687 625 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified glaucoma 0.000898 3.0316 0.913 GPI rs8191371 19:34377871:T:C 19 34377871 T C 19:34868776 0.997992 0.0106509 34 3879 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hypertension 7.1e-07 -0.2422 0.0488 Nonalcoholic fatty liver disease 0.000405 15.938 4.506 ZNF302 rs141163262 19:34684401:G:A 19 34684401 G A 19:35175306 0.952035 464 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hordeolum and other deep inflammation of eyelid 0.000775 3.9306 1.1692 ZNF302 rs10425561 19:34684687:G:A 19 34684687 G A 19:35175592 0.998636 0.132914 6492 42339 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Somnolence, stupor and coma 2.78e-05 -0.3986 0.0951 Other gastritis (incl. Duodenitis) 0.0005978 0.246 0.072 SCN1B rs55742440 19:35033920:T:C 19 35033920 T C 19:35524824 0.982785 86943 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Drug-induced osteoporosis with pathological fracture 0.000539 0.4863 0.1405 Special screening examination for infectious and parasitic diseases 0.0009973 0.069 0.021 SCN1B rs66876876 19:35033932:G:A 19 35033932 G A 19:35524836 0.974024 1214 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pain, not elsewhere classified 0.00157 0.7861 0.2487 SCN1B rs67701503 19:35034035:C:A 19 35034035 C A 19:35524939 0.985553 0.175909 11518 53109 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Colon 9.3e-05 0.1025 0.0262 False labour 0.0004777 0.153 0.044 SCN1B rs67486287 19:35034040:G:C 19 35034040 G C 19:35524944 0.984165 53025 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Colon 0.000189 0.0981 0.0263 False labour 0.000416 0.156 0.044 SCN1B rs72558028 19:35034060:G:A 19 35034060 G A 19:35524964 0.958849 386 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other/unspecified disorders of vestibular function 0.00184 5.1771 1.6618 LSR rs141731488 19:35250355:C:T 19 35250355 C T 19:35741258 0.956156 3574 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chron's disease NAS 0.000704 0.9438 0.2786 Fracture of lumbar spine and pelvis 0.0005195 6.401 1.844 HAMP rs146776859 19:35284790:C:T 19 35284790 C T 19:35775693 0.995352 5313 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hemochromatosis type 2B Ulcer of vagina/vulva 0.000439 1.9181 0.5456 Symptoms and signs involving the digestive system and abdomen 0.0005549 0.675 0.196 MAG rs144553163 19:35299590:C:T 19 35299590 C T 19:35790493 0.951409 558 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hereditary spastic paraplegia;Spastic paraplegia 75, autosomal recessive Suggestive for eosinophilic asthma 0.000227 2.4973 0.6774 Other surgical follow-up care 0.0005063 149.169 42.897 CD22 rs140037563 19:35341936:G:A 19 35341936 G A 19:35832839 0.98859 509 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Alcohol abuse, main dg 0.00112 1.6446 0.5048 ATP4A rs61729956 19:35555558:T:A 19 35555558 T A 19:36046460 0.929757 390 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.00361 1.2525 0.4304 ATP4A rs139397080 19:35557759:C:T 19 35557759 C T 19:36048661 0.987387 314 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amblyopia ex anopsia 0.000188 7.0786 1.8956 0 3.072 0 ATP4A rs139075511 19:35560431:G:T 19 35560431 G T 19:36051333 0.941473 1390 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alogoneurodystrophy 0.00237 2.1817 0.7178 Retention of urine 0.0008373 8.644 2.588 NPHS1 rs137853042 19:35831358:G:A 19 35831358 G A 19:36322260 0.980466 403 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of bladder (other cancers excluded from controls) 0.000302 2.8961 0.8015 NPHS1 rs4806213 19:35831699:T:C 19 35831699 T C 19:36322601 0.987364 0.105983 4114 34823 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified dermatitis 2.98e-05 0.1249 0.0299 Dialysis 7.592e-07 1.309 0.265 NPHS1 rs201503587 19:35831756:G:A 19 35831756 G A 19:36322658 0.91387 624 missense_variant recessive Uncertain significance VUS no assertion criteria provided no_Criteria Female infertility, associated with anovulation 0.00159 2.2236 0.7044 NPHS1 rs138173172 19:35841784:C:A 19 35841784 C A 19:36332686 0.945416 710 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Erythema intertrigo 0.000678 6.5379 1.9238 NPHS1 rs114896482 19:35842487:G:A 19 35842487 G A 19:36333389 0.986422 5209 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Finnish congenital nephrotic syndrome;Hereditary nephrotic syndrome Cervical root disorders 0.00187 2.082 0.6695 Causalgia 0.0002288 21.788 5.913 NPHS1 rs33950747 19:35848345:C:T 19 35848345 C T 19:36339247 0.976456 28458 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Finnish congenital nephrotic syndrome;not provided;not specified Problems related to life-management difficulty 0.00122 0.2496 0.0772 Acute lymphadenitis 6.995e-05 0.955 0.24 NPHS1 rs34320609 19:35848393:A:G 19 35848393 A G 19:36339295 0.960757 0.00122759 0 451 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease (Atypical or mixed) 5.48e-05 5.3841 1.3346 NPHS1 rs113825926 19:35849107:G:A 19 35849107 G A 19:36340009 0.990508 2949 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Dislocation, sprain and strain of joints and ligaments at neck level 0.00102 0.6617 0.2014 Benign lipomatous neoplasm of skin and subcutaneous tissue of head, face and neck (other cancers excluded from controls) 0.003078 27.314 9.228 NPHS1 rs34982899 19:35849285:G:C 19 35849285 G C 19:36340187 0.972622 9474 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other localized connective tissue disorders 1e-04 1.4096 0.3623 Heartburn 7.027e-06 7.092 1.578 NPHS1 rs145125791 19:35850409:T:A 19 35850409 T A 19:36341311 0.979146 1508 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Finnish congenital nephrotic syndrome;not specified Other and unspecified intracranial injuries 0.000178 3.0584 0.8159 Chronic laryngitis and laryngotracheitis 0.0006696 10.929 3.213 NPHS1 rs199646884 19:35850413:C:T 19 35850413 C T 19:36341315 0.983554 427 missense_variant recessive Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Dyshidrosis [pompholyx] 0.000498 7.6528 2.1979 NPHS1 rs3814995 19:35851310:C:T 19 35851310 C T 19:36342212 0.962427 0.361092 47824 84837 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammation of lacrimal passages (acute and unspecified) 3.96e-05 0.4847 0.1179 Respiratory disorders in diseases classified elsewhere 0.0003206 0.56 0.156 NPHS1 rs386833873 19:35851608:CAG:C 19 35851608 CAG C 19:36342510 0.966858 0.00903949 26 3295 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Finnish congenital nephrotic syndrome;not provided Nephrotic syndrome 1.29e-14 4.042 0.5245 Nephrotic syndrome 6.207e-22 33.507 3.481 TYROBP rs77782321 19:35907512:C:A 19 35907512 C A 19:36398414 0.978129 1932 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;not specified Cardiac murmurs and other cardiac sounds 0.000644 1.1098 0.3252 Lateral epicondylitis 0.001437 8.318 2.61 SYNE4 rs186898202 19:36003624:C:T 19 36003624 C T 19:36494526 0.991661 382 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Conductive hearing loss, unspecified 0.000239 3.097 0.843 Lateral epicondylitis 0.005282 19.453 6.974 SYNE4 rs2285422 19:36006456:C:G 19 36006456 C G 19:36497358 0.966104 16679 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Allergic urticaria 0.000176 -0.4271 0.1139 Allergic urticaria 8.266e-05 -0.234 0.059 SYNE4 rs138787817 19:36008586:G:A 19 36008586 G A 19:36499488 0.974709 4854 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Psychiatric comorbidites (Asthma/COPD) 0.000984 -0.1612 0.0489 0.001115 4.418 1.355 WDR62 rs200283315 19:36055053:C:T 19 36055053 C T 19:36545955 0.883215 116 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified trigeminal disorders 0.000401 22.2235 6.279 Nerve, nerve root and plexus disorders 0 5.307 0 WDR62 rs62109744 19:36055113:C:T 19 36055113 C T 19:36546015 0.961896 901 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acohol-induced acute pancreatitis 0.000135 3.91 1.0243 WDR62 rs146274964 19:36058855:G:A 19 36058855 G A 19:36549757 0.983173 476 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonischemic cardiomyopathy 0.000516 2.9912 0.8615 WDR62 rs2285745 19:36099427:T:C 19 36099427 T C 19:36590329 0.998448 72441 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes, definitions combined 0.000122 0.0513 0.0134 1.67e-05 0.141 0.033 WDR62 rs61741470 19:36103013:T:G 19 36103013 T G 19:36593915 0.994518 0.0297996 368 10580 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Primary Microcephaly 2 With or Without Cortical Malformations;Primary autosomal recessive microcephaly 2;not specified Pure hyperglyceridaemia 6.01e-05 1.398 0.3484 Infective dermatitis 0.001732 1.597 0.51 WDR62 rs111294536 19:36103640:C:T 19 36103640 C T 19:36594542 0.935267 834 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Burn and corrosion of ankle and foot 0.000937 6.248 1.8883 WDR62 rs2074435 19:36103757:A:T 19 36103757 A T 19:36594659 0.99874 84941 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Temporomandibular joint disorders 0.000263 -0.1203 0.033 Pyoderma 0.0004231 0.245 0.069 WDR62 rs17851503 19:36103951:G:A 19 36103951 G A 19:36594853 0.992618 0.0472008 838 16503 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Primary Microcephaly 2 With or Without Cortical Malformations;Primary autosomal recessive microcephaly 2;not specified Dialysis 3.17e-08 0.9298 0.1681 Nephrotic syndrome 4.904e-13 6.801 0.941 WDR62 rs1008328 19:36104534:A:C 19 36104534 A C 19:36595436 0.998759 0.77806 222804 63046 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abscess of lung 6.71e-05 -0.6681 0.1676 Abscess of lung 0.0001234 -0.38 0.099 ZNF345 rs112729744 19:36877633:G:C 19 36877633 G C 19:37368535 0.969838 1563 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast 0.000152 1.3075 0.3452 Non-follicular lymphoma 2.862e-05 40.161 9.598 ZNF527 rs376931538 19:37388950:C:CTGTG 19 37388950 C CTGTG 19:37879852 0.993567 47250 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deviated nasal septum 0.000272 0.1051 0.0289 Disorders of mineral metabolism 0.0003362 0.477 0.133 ZNF527 rs2891700 19:37388952:AT:A 19 37388952 AT A 19:37879854 0.993567 47250 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deviated nasal septum 0.000272 0.1051 0.0289 Disorders of mineral metabolism 0.0003362 0.477 0.133 WDR87 rs73027451 19:37885026:C:T 19 37885026 C T 19:38375666 0.999656 0.183838 12720 54820 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter malignant neoplasm of male genital organs (other cancers excluded from controls) 1.74e-05 -0.1306 0.0304 Infective bursitis 0.0005922 0.583 0.17 WDR87 rs10408510 19:37885845:T:A 19 37885845 T A 19:38376485 0.999961 0.740446 201722 70309 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental disorders, not otherwise specified 6.98e-05 0.2071 0.0521 Statin medication 6.401e-05 -0.028 0.007 WDR87 rs112783899 19:37887132:C:T 19 37887132 C T 19:38377772 0.992533 2820 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of breast 0.000928 -0.8059 0.2434 Schizoid personality disorder 0.001036 82.627 25.188 WDR87 rs34785154 19:37887133:G:A 19 37887133 G A 19:38377773 0.999581 62158 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute epiglottitis 0.000483 0.4872 0.1396 Inflammatory bowel disease 4.232e-05 0.154 0.038 WDR87 rs10422056 19:37887899:G:C 19 37887899 G C 19:38378539 0.999732 0.740536 201796 70268 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental disorders, not otherwise specified 7.34e-05 0.2065 0.0521 Statin medication 6.853e-05 -0.027 0.007 WDR87 rs6508750 19:37888806:C:T 19 37888806 C T 19:38379446 0.99964 90576 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic kidney disease 0.000182 -0.1044 0.0279 Other obstructed labour 0.0006875 -0.188 0.055 WDR87 rs3894129 19:37893781:C:G 19 37893781 C G 19:38384421 0.999478 71308 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental disorders, not otherwise specified 0.00023 0.1906 0.0517 Statin medication 0.0001048 -0.027 0.007 SIPA1L3 rs141958728 19:38082413:C:T 19 38082413 C T 19:38573053 0.995811 7738 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter GI-bleeding 0.000665 0.2815 0.0827 Symptoms and signs involving emotional state 0.001397 8.96 2.804 SIPA1L3 rs62121430 19:38082499:G:T 19 38082499 G T 19:38573139 0.996875 13294 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in other circumstances 0.000333 -0.2146 0.0598 Other general symptoms and signs 0.001072 3.225 0.986 SIPA1L3 rs10405667 19:38082509:G:C 19 38082509 G C 19:38573149 0.99937 47599 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to life-management difficulty 0.000381 -0.2109 0.0593 Other bacterial diseases 0.0005893 -0.098 0.028 SIPA1L3 rs78686793 19:38152899:C:T 19 38152899 C T 19:38643539 0.993327 7061 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD-related co-morbidities 0.000427 -0.0939 0.0267 Non-small cell lung cancer, squamous 0.0008551 11.611 3.482 SIPA1L3 rs142602797 19:38164595:C:A 19 38164595 C A 19:38655235 0.993978 0.00402844 4 1476 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anxious personality disorder 8.8e-05 3.6204 0.9232 Other specified disorders of kidney and ureter 0.0005713 124.463 36.13 SIPA1L3 rs3745945 19:38182658:C:G 19 38182658 C G 19:38673298 0.991643 0.0727678 2062 24672 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Care involving dialysis 5.01e-06 0.4578 0.1003 4.785e-09 2.224 0.38 SIPA1L3 rs61735490 19:38193621:G:C 19 38193621 G C 19:38684261 0.991448 0.0039985 6 1463 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anxious personality disorder 8.73e-05 3.6266 0.9243 Other specified disorders of kidney and ureter 0.0005708 124.945 36.267 SPINT2 rs111990687 19:38290578:A:G 19 38290578 A G 19:38781218 0.94379 0.00334524 6 1223 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atrophic disorders of skin 3.68e-05 1.6681 0.4042 Atrial fibrillation and flutter 0.0003801 -2.69 0.757 GGN rs62123481 19:38384432:G:A 19 38384432 G A 19:38875072 0.986656 0.00648633 20 2363 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Excessive vomiting in pregnancy 4.15e-05 1.6196 0.3951 Type 2 diabetes with ketoacidosis 0.002302 41.752 13.697 GGN rs62123481 19:38384432:G:C 19 38384432 G C 19:38875072 0.9272 1138 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (undefined) 0.000539 2.6863 0.7763 Sleep disorders (combined) 0.0003665 3.494 0.981 GGN rs376498232 19:38385765:A:AGCCGGGGATGGGGCCGGGGCCGGG 19 38385765 A AGCCGGGGATGGGGCCGGGGCCGGG 19:38876405 0.997862 17883 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anaemias 0.000361 -0.1563 0.0438 Viral infections of the central nervous system 0.0007873 1.396 0.416 GGN rs80351552 19:38386048:C:T 19 38386048 C T 19:38876688 0.996652 978 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic thrombocytopenic purpura 0.000726 3.2987 0.9761 GGN rs202082712 19:38386085:G:A 19 38386085 G A 19:38876725 0.933036 971 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enthesopathies of lower limb, excluding foot 0.000357 1.02 0.2857 7.135e-05 1.607 0.405 GGN rs74911931 19:38386118:C:T 19 38386118 C T 19:38876758 0.996523 947 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Idiopathic thrombocytopenic purpura 0.000608 3.4271 0.9998 GGN rs183879202 19:38386669:G:A 19 38386669 G A 19:38877309 0.991633 9999 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other abnormal findings in urine 0.0019 1.3206 0.4253 Poisoning by narcotics and psychodysleptics [hallucinogens] 0.000487 6.073 1.741 GGN rs548116774 19:38386818:G:GGGC 19 38386818 G GGGC 19:38877458 0.939848 568 inframe_indel unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Calcaneal spur 0.00218 7.1226 2.3247 RASGRP4 rs202008979 19:38415075:G:C 19 38415075 G C 19:38905715 0.998581 0.0176843 114 6383 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (Early onset) 3.47e-05 1.0966 0.2649 Spondylolisthesis/Spondylolysis 7.927e-05 3.998 1.013 RYR1 rs138874610 19:38458247:G:A 19 38458247 G A 19:38948887 0.966988 182 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acute renal failure 0.000217 4.1516 1.1226 RYR1 rs200124278 19:38466153:C:T 19 38466153 C T 19:38956793 0.993149 991 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Optic atrophy 0.000831 4.8317 1.4457 RYR1 rs200894780 19:38473557:C:A 19 38473557 C A 19:38964197 0.971288 0.0226219 226 8085 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter RYR1-Related Disorders Sequelae of injuries of lower limb 5.38e-05 0.595 0.1473 Poisoning by narcotics and psychodysleptics [hallucinogens] 0.0002216 9.204 2.492 RYR1 rs182004703 19:38473637:C:A 19 38473637 C A 19:38964277 0.940349 1621 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter RYR1-Related Disorders Dislocation, sprain and strain of joints and ligaments at ankle and foot level 0.000946 0.5454 0.165 Residual foreign body in soft tissue 0.002472 37.347 12.339 RYR1 rs35869497 19:38473701:G:C 19 38473701 G C 19:38964341 0.874444 657 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Trigger finger 0.000221 1.8247 0.494 RYR1 rs137933390 19:38475335:A:G 19 38475335 A G 19:38965975 0.965207 794 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperhidrosis 0.00134 3.4263 1.0686 RYR1 rs754476250 19:38483329:C:T 19 38483329 C T 19:38973969 0.974466 493 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant hyperthermia susceptibility;Multiminicore Disease;Myopathy, Central Core;Neuromuscular disease, congenital, with uniform type 1 fiber;RYR1-Related Disorders;not provided Anankastic personality disorder 0.000308 4.9165 1.3624 Malignant neoplasm of small intestine (other cancers excluded from controls) 0.0005078 136.491 39.26 RYR1 rs144157950 19:38485654:C:T 19 38485654 C T 19:38976294 0.840191 161 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Localized swelling, mass and lump of skin and subcutaneous tissue 0.000667 2.4088 0.7079 RYR1 rs146504767 19:38485691:G:A 19 38485691 G A 19:38976331 0.978464 806 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant hyperthermia;Malignant hyperthermia susceptibility;Malignant hyperthermia, susceptibility to, 1;Multiminicore Disease;Myopathy, Central Core;Neuromuscular disease, congenital, with uniform type 1 fiber;RYR1-Related Disorders;not provided;not specified Granuloma annulare 0.00202 5.0635 1.6403 Pure hyperglyceridaemia 0.0001928 349.967 93.87 RYR1 rs34934920 19:38486015:C:T 19 38486015 C T 19:38976655 0.974799 2760 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant hyperthermia susceptibility;Malignant hyperthermia, susceptibility to, 1;Malignant hypothermia;Multiminicore Disease;Myopathy, Central Core;Neuromuscular disease, congenital, with uniform type 1 fiber;RYR1-Related Disorders;not provided;not specified Tobacco use 0.000396 2.1143 0.5968 Benign neoplasm of ovary (other cancers excluded from controls) 5.474e-05 5.74 1.423 RYR1 rs35364374 19:38492540:G:T 19 38492540 G T 19:38983180 0.998037 8456 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant hyperthermia susceptibility;Malignant hyperthermia, susceptibility to, 1;Multiminicore Disease;Myopathy, Central Core;Neuromuscular disease, congenital, with uniform type 1 fiber;not provided;not specified Disorders of lacrimal system 0.000172 0.2676 0.0712 Malnutrition 0.0007504 12.507 3.711 RYR1 rs147213895 19:38499241:A:G 19 38499241 A G 19:38989881 0.93788 178 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinal detachments and breaks 0.000553 2.0247 0.5862 RYR1 rs2071089 19:38512085:A:G 19 38512085 A G 19:39002725 0.997735 0.299724 33542 76573 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Calcific tendinitis of shoulder 9.07e-05 -0.2416 0.0617 Peroneal tendinitis 0.001603 0.526 0.167 RYR1 rs199738299 19:38516167:A:G 19 38516167 A G 19:39006807 0.923112 122 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified iridocyclitis 0.000693 12.5135 3.6889 Other diseases of pericardium 0.0001434 339.392 89.263 RYR1 rs143987857 19:38525492:G:A 19 38525492 G A 19:39016132 0.996289 0.00133646 6 485 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant hyperthermia, susceptibility to, 1;Myopathy, Central Core;RYR1-Related Disorders;not provided;not specified Entropion and trichiasis of eyelid 9.13e-06 3.9419 0.8885 2.643e-06 4.156 0.885 RYR1 rs55876273 19:38527707:G:C 19 38527707 G C 19:39018347 0.991122 6804 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant hyperthermia susceptibility;Malignant hyperthermia, susceptibility to, 1;Malignant hypothermia;RYR1-Related Disorders;not provided;not specified Localized swelling, mass and lump of skin and subcutaneous tissue 0.000549 -0.3091 0.0894 Vestibular neuronitis 0.001365 4.341 1.356 RYR1 rs4802584 19:38534726:C:G 19 38534726 C G 19:39025366 0.998969 14542 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant hyperthermia susceptibility;Malignant hyperthermia, susceptibility to, 1;Multiminicore Disease;Myopathy, Central Core;Neuromuscular disease, congenital, with uniform type 1 fiber;RYR1-Related Disorders;not provided;not specified Single spontaneous delivery 0.000371 -0.0949 0.0267 Lichen sclerosus et atrophicus 0.001124 1.58 0.485 RYR1 rs150396398 19:38566986:G:C 19 38566986 G C 19:39057626 0.973134 642 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified injuries of wrist and hand 0.0019 3.8864 1.2515 ACTN4 rs112545413 19:38717102:G:A 19 38717102 G A 19:39207742 0.978902 1326 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Other pulmonary heart/vessel disease 0.00307 2.1109 0.713 Adhesive middle ear disease 0.0004457 169.388 48.239 ACTN4 rs141727248 19:38728009:G:A 19 38728009 G A 19:39218649 0.967676 2699 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Bacterial meningitis 0.000377 1.5561 0.4376 Other abnormal immunological findings in serum 0.002287 40.726 13.352 ECH1 rs58750431 19:38815889:C:T 19 38815889 C T 19:39306529 0.997207 3527 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria not provided Multiple myeloma and malignant plasma cell neoplasms 0.00112 1.2402 0.3805 Other viral diseases 0.001706 3.862 1.231 ECH1 rs2229259 19:38816463:C:T 19 38816463 C T 19:39307103 0.996844 31745 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria not provided Divergent concomitant strabismus 0.000376 -0.27 0.0759 Shoulder lesions 9.844e-05 -0.192 0.049 ECH1 rs9419 19:38831447:T:G 19 38831447 T G 19:39322087 0.998942 90976 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Diabetes, insuline treatment (Kela reimbursement) (more controls excluded) 0.00067 -0.0394 0.0116 0.001777 -0.041 0.013 SIRT2 rs144373891 19:38889130:C:T 19 38889130 C T 19:39379770 0.990207 3188 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyarthritis, unspecified 0.000479 1.4942 0.4278 Undefined dementia (more controls excluded) 0.000219 15.37 4.159 SIRT2 rs45535036 19:38893508:T:A 19 38893508 T A 19:39384148 0.970292 804 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of veins 0.00111 0.7873 0.2414 SARS2 rs551671819 19:38915624:G:GCCAGGCAGC 19 38915624 G GCCAGGCAGC 19:39406264 0.965952 638 inframe_indel recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Guillain-Barre syndrome 0.00104 6.3433 1.9344 Benign neoplasm: Skin of lip 0.000643 116.568 34.156 SARS2 rs34050897 19:38930489:G:A 19 38930489 G A 19:39421129 0.974839 1619 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis;not provided;not specified Erythema intertrigo 0.000376 3.8277 1.0763 Other and unspecified nonorganic psychotic disorders 0.00322 28.573 9.699 IFNL3 rs62120527 19:39243712:C:T 19 39243712 C T 19:39734352 0.982743 6307 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peripheral retinal degeneration 0.000469 1.1267 0.3221 Contusion of other and unspecified parts of foot 8.756e-05 10.794 2.752 IFNL3 rs148543092 19:39244094:T:C 19 39244094 T C 19:39734734 0.891492 239 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute mastoiditis 0.002 15.3362 4.9635 IFNL3 rs8103142 19:39244466:T:C 19 39244466 T C 19:39735106 0.996362 0.264247 25744 71337 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transplanted organ and tissue status 1.85e-05 -0.2181 0.0509 Cholelithiasis, broad definition with cholecystitis 0.0001171 0.069 0.018 PLEKHG2 rs45441295 19:39415010:T:C 19 39415010 T C 19:39905650 0.980542 1095 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins 0.000901 0.4405 0.1327 Benign neoplasm: Rectum/anal canal icd-9 (other cancers excluded from controls) 0.0004418 170.695 48.579 PLEKHG2 rs201201843 19:39416866:C:T 19 39416866 C T 19:39907506 0.993631 417 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Guillain-Barre syndrome 0.00179 8.0476 2.5775 PLEKHG2 rs111487768 19:39423362:G:A 19 39423362 G A 19:39914002 0.9704 1467 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Behavioural syndromes associated with physiological disturbances and physical factors 0.00105 -0.6392 0.1951 Torticollis 0.001081 79.811 24.417 PLEKHG2 rs202077408 19:39425022:G:C 19 39425022 G C 19:39915662 0.957113 1423 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertensive diseases (excluding secondary) 0.00121 0.2991 0.0924 Asthma, unspecified (mode) 2.036e-07 6.325 1.217 DLL3 rs55741253 19:39502830:T:A 19 39502830 T A 19:39993470 0.991713 0.0581619 1328 20040 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Jarcho-Levin syndrome;Spondylocostal dysostosis 1, autosomal recessive;Syndactyly;not provided;not specified Malignant neoplasm of prostate 7.02e-05 0.1931 0.0486 Focal epilepsy 0.0003476 1.924 0.538 DLL3 rs8107127 19:39502920:T:G 19 39502920 T G 19:39993560 0.998461 86967 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Temporomandibular joint disorders 0.00122 -0.1055 0.0326 Convalescence 7.493e-05 -0.23 0.058 DLL3 rs1110627 19:39504071:T:C 19 39504071 T C 19:39994711 0.9997 0.642185 151872 84059 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Temporomandibular joint disorders 5.81e-05 -0.1336 0.0332 Anosmia 0.0003634 -0.215 0.06 DLL3 rs139297205 19:39504223:G:A 19 39504223 G A 19:39994863 0.937526 0.000489945 0 180 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified iridocyclitis 5.29e-05 13.4471 3.3265 DLL3 rs146274789 19:39505424:C:T 19 39505424 C T 19:39996064 0.991991 0.000334796 0 123 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other lesions of median nerve 2.22e-05 17.2922 4.0772 DLL3 rs191149379 19:39507507:C:T 19 39507507 C T 19:39998147 0.986141 0.0504045 940 17578 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Jarcho-Levin syndrome;Syndactyly;not specified Cellulitis 2.01e-05 0.2933 0.0688 0.001498 0.629 0.198 LGALS13 rs2233711 19:39607263:G:A 19 39607263 G A 19:40097903 0.982705 0.001478 0 543 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dysphagia 4.12e-05 1.7684 0.4312 PLD3 rs145999145 19:40371688:G:A 19 40371688 G A 19:40877595 0.975899 0.00350583 2 1286 missense_variant dominant Uncertain significance VUS no assertion criteria provided no_Criteria Chronic diseases of tonsils and adenoids 3.28e-05 0.4233 0.1019 PRX rs268674 19:40394958:C:T 19 40394958 C T 19:40900865 0.982552 19724 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Astigmatism 0.0016 -0.4471 0.1417 Astigmatism 0.000758 -0.25 0.074 PRX rs148939995 19:40394979:C:T 19 40394979 C T 19:40900886 0.953414 0.00284168 6 1038 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;not provided;not specified Depression medications 6.18e-06 0.4603 0.1018 Diseases of spleen 0.0003029 237.551 65.753 PRX rs3745202 19:40395104:G:C 19 40395104 G C 19:40901011 0.995492 0.14553 8152 45314 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Retinoschisis and retinal cysts 1.43e-05 0.62 0.1429 Retinoschisis and retinal cysts 2.223e-05 1.173 0.276 PRX rs139188673 19:40395166:C:A 19 40395166 C A 19:40901073 0.971656 461 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diabetic polyneuropathy 0.000379 5.8539 1.6469 PRX rs268673 19:40395589:T:C 19 40395589 T C 19:40901496 0.995207 82859 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maternal care for known or suspected disproportion 0.00062 0.2253 0.0658 Acute sinusitis 0.0007113 0.058 0.017 PRX rs268671 19:40395707:A:G 19 40395707 A G 19:40901614 0.994039 91046 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism,other/unspecified 0.00059 -0.0414 0.0121 Acute sinusitis 1.257e-05 0.061 0.014 PRX rs147587689 19:40396098:C:T 19 40396098 C T 19:40902005 0.995476 506 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other skin changes 0.00112 2.2874 0.7018 PRX rs201337455 19:40396728:G:A 19 40396728 G A 19:40902635 0.956219 0.00253138 0 930 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments of lumbar spine and pelvis 1.68e-05 5.5883 1.2985 PRX rs149715830 19:40396778:A:G 19 40396778 A G 19:40902685 0.924641 301 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of lipoprotein metabolism and other lipidaemias 0.000872 0.9883 0.2969 PRX rs117336941 19:40397136:C:T 19 40397136 C T 19:40903043 0.97803 5684 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;Charcot-Marie-Tooth disease, demyelinating, type 4f;not provided Medical observation and evaluation for suspected diseases and conditions 0.00026 0.1598 0.0438 Other disorders of pigmentation 0.001222 9.765 3.02 PRX rs118071705 19:40397621:G:A 19 40397621 G A 19:40903528 0.985218 0.0209207 182 7504 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease type 4;not provided;not specified Persons encountering health services for examination and investigation 1.64e-05 0.1043 0.0242 Benign neoplasm of thyroid gland 0.0001762 8.711 2.322 BLVRB rs11547746 19:40458488:C:T 19 40458488 C T 19:40964395 0.954873 741 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Crohn's disease of large intestine 0.000102 3.1272 0.8046 SPTBN4 rs148009574 19:40523492:C:A 19 40523492 C A 19:41029399 0.957099 0.00882174 30 3211 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Urehtritis and urethral syndrome 6.21e-05 2.3876 0.5962 Urethral stricture 0.0005147 14.759 4.25 SPTBN4 rs150725660 19:40572136:G:C 19 40572136 G C 19:41078042 0.968262 79 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinoschisis and retinal cysts 0.000803 23.9307 7.1396 LTBP4 rs2303729 19:40605163:G:A 19 40605163 G A 19:41111069 0.996167 91336 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Major coronary heart disease event 0.000628 -0.0494 0.0144 Lung transplantation 7.167e-05 0.149 0.038 LTBP4 rs34545902 19:40608363:T:A 19 40608363 T A 19:41114269 0.996539 2633 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified Osteoporosis with pathological fracture (FG) 0.000102 1.5863 0.4082 Foreign body in alimentary tract 2.397e-05 55.487 13.135 LTBP4 rs33937741 19:40610549:C:G 19 40610549 C G 19:41116455 0.99211 15536 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;not specified Nummular dermatitis 0.000242 0.4475 0.1219 Otosclerosis 0.001418 1.241 0.389 LTBP4 rs34093919 19:40611394:G:A 19 40611394 G A 19:41117300 0.997208 0.0205723 180 7378 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Hallux valgus (acquired) 2.59e-05 -0.2961 0.0704 2.325e-06 -0.661 0.14 LTBP4 rs1131620 19:40611963:A:G 19 40611963 A G 19:41117869 0.998914 91478 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vascular dementia 0.000795 0.1843 0.0549 Stenosis and insufficiency of lacrimal passages 0.0001221 0.138 0.036 LTBP4 rs1051303 19:40612150:A:G 19 40612150 A G 19:41118056 0.998945 91484 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vascular dementia 0.000797 0.1842 0.0549 Stenosis and insufficiency of lacrimal passages 0.0001223 0.138 0.036 LTBP4 rs200667255 19:40616985:C:G 19 40616985 C G 19:41122891 0.985942 78 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Retinoschisis and retinal cysts 0.000781 24.3394 7.245 LTBP4 rs10880 19:40622404:C:T 19 40622404 C T 19:41128309 0.996431 0.458564 77912 90559 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular diseases 6.92e-05 0.0339 0.0085 Benign neoplasm: Kidney (other cancers excluded from controls) 4.167e-05 0.309 0.076 LTBP4 rs370767377 19:40627007:C:G 19 40627007 C G 19:41132912 0.883934 0.00018509 0 68 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Vagina 1.46e-05 57.4383 13.2527 LTBP4 rs199678003 19:40627023:C:G 19 40627023 C G 19:41132928 0.982006 1139 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Diverticular disease of intestine 0.000265 0.4923 0.135 0.0003385 194.926 54.389 LTBP4 rs35809725 19:40627287:A:T 19 40627287 A T 19:41133192 0.972416 2603 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Traumatic subarachnoid haemorrhage 0.000808 1.9996 0.5969 Abnormal findings in secretions and smears from cervix uteri vagina vulva 5.249e-05 4.354 1.077 LTBP4 rs199514354 19:40629471:C:T 19 40629471 C T 19:41135376 0.983348 307 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neovascular glaucoma 0.000269 6.6948 1.8377 LTBP4 rs200665923 19:40629480:G:A 19 40629480 G A 19:41135385 0.993565 420 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chalazion 0.000232 2.4935 0.6774 ADCK4 rs36012476 19:40700155:G:C 19 40700155 G C 19:41206060 0.986037 17816 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Supplementary factors related to causes of morbidity and mortality classified elsewhere 0.000148 0.6376 0.168 Carpal tunnel syndrome 0.0004572 0.393 0.112 ADCK4 rs3865452 19:40705151:T:C 19 40705151 T C 19:41211056 0.993269 0.550358 111892 90303 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Premature separation of placenta [abruptio placentae] 2.09e-05 0.3866 0.0909 Premature separation of placenta [abruptio placentae] 8.605e-05 0.275 0.07 ADCK4 rs11538384 19:40714124:G:A 19 40714124 G A 19:41220029 0.991823 10610 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Other and unspecified injuries of lower leg 0.000254 0.6368 0.1741 Other and unspecified psoriasis 0.0005993 3.607 1.051 ADCK4 rs113358395 19:40714313:G:A 19 40714313 G A 19:41220218 0.958279 1239 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Persons encountering health services for other counselling and medical advice, not elsewhere classified 0.000268 -0.4224 0.1159 Other general symptoms and signs 0.0009968 78.08 23.722 EGLN2 rs141698095 19:40807854:C:T 19 40807854 C T 19:41313759 0.96961 1539 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Problems related to employment and unemployment 0.000767 3.7797 1.1234 Other and unspecified diseases of blood and blood-forming organs 0.0006987 115.919 34.194 CYP2A6 rs1801272 19:40848628:A:T 19 40848628 A T 19:41354533 0.985937 0.0227688 158 8207 missense_variant dominant drug response drug response no assertion criteria provided no_Criteria Nicotine, poor metabolism of;Warfarin response COPD (mode) 4.66e-06 -0.3641 0.0795 Calculus of kidney and ureter 0.0001311 1.982 0.518 CYP2A7 rs12460590 19:40875742:A:C 19 40875742 A C 19:41381647 0.967823 80607 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carpal tunnel syndrome 0.000651 0.061 0.0179 Other and unspecified nerve root and plexus disorders, also in other diseases 0.0002684 -0.091 0.025 CYP2A7 rs117539170 19:40878797:T:C 19 40878797 T C 19:41384702 0.986689 79685 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.000147 -0.2067 0.0545 Burn and corrosion of shoulder and upper limb, except wrist and hand 0.000979 0.399 0.121 CYP2A7 rs56081734 19:40880515:A:C 19 40880515 A C 19:41386420 0.990511 89827 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.000552 0.1755 0.0508 Dialysis 0.0004718 0.198 0.057 CYP2B6 rs3745274 19:41006936:G:T 19 41006936 G T 19:41512841 0.999325 56960 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter COPD (mode) 0.000669 0.1017 0.0299 Extreme obesity with alveolar hypoventilation 0.0008614 0.536 0.161 CYP2F1 rs3833221 19:41116202:G:GC 19 41116202 G GC 19:41622107 0.999021 0.230832 19784 65021 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of ankle and foot 2.84e-05 0.3817 0.0912 Other and unspecified injuries of ankle and foot 4.858e-05 0.522 0.128 CYP2F1 rs57670668 19:41116576:G:C 19 41116576 G C 19:41622481 0.988578 2974 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Psychiatric diseases 0.00116 0.1612 0.0496 Pneumonitis due to solids and liquids 0.0001455 23.141 6.092 CYP2F1 rs144315434 19:41125512:T:C 19 41125512 T C 19:41631417 0.978129 19178 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign mammary dysplasia 0.000697 0.2348 0.0693 Diseases of peritoneum 0.0005777 0.979 0.285 AXL rs139491068 19:41237944:G:A 19 41237944 G A 19:41743849 0.987795 3119 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of ovary 0.000333 0.5853 0.1631 Polyarhtrosis 0.0009017 5.914 1.782 AXL rs35538872 19:41248525:G:A 19 41248525 G A 19:41754430 0.972517 1488 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple delivery 0.000289 1.8259 0.5038 Other diseases of anus and rectum 0.000489 11.765 3.374 TGFB1 rs200164212 19:41332255:C:T 19 41332255 C T 19:41838160 0.955425 235 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypersensitivity pneumonitis due to organic dust 0.000726 10.995 3.2534 TGFB1 rs1800472 19:41341955:G:A 19 41341955 G A 19:41847860 0.996016 11914 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diaphyseal dysplasia;not specified Superficial injuries involving multiple body regions 0.000129 1.1419 0.2983 Other disorders of binocular vision 0.0007849 5.24 1.561 TGFB1 rs1800471 19:41352971:C:G 19 41352971 C G 19:41858876 0.996117 15408 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diaphyseal dysplasia;not specified Non-ischemic cardiomyopathy 0.000186 -0.1514 0.0405 Alzheimer's disease (Atypical or mixed) 0.0017 1.568 0.5 TGFB1 rs1800470 19:41353016:G:A 19 41353016 G A 19:41858921 0.996636 0.703697 182448 76082 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unstable angina pectoris 2.19e-05 -0.1042 0.0245 Adrenocortical insufficiency 0.0003494 0.213 0.06 B9D2 rs2241714 19:41363487:T:C 19 41363487 T C 19:41869392 0.999547 0.719719 190650 73766 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Angina pectoris 3.51e-06 -0.078 0.0168 Other facial nerve disorders 8.938e-05 0.238 0.061 BCKDHA rs11549936 19:41410644:C:A 19 41410644 C A 19:41916549 0.993097 26590 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maple syrup urine disease;not provided;not specified Impingement syndrome of shoulder 0.000435 -0.1522 0.0432 0.001414 0.721 0.226 BCKDHA rs34442879 19:41414125:C:T 19 41414125 C T 19:41920030 0.997719 8881 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maple syrup urine disease;not provided;not specified Benign neoplasm: Colon, unspecified 0.000544 0.3317 0.0959 Stenosis and insufficiency of lacrimal passages 0.0006117 5.661 1.652 BCKDHA rs3217385 19:41422962:G:GC 19 41422962 G GC 19:41928867 0.999242 0.644436 152730 84028 pLoF recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetic retinopathy 5.29e-05 0.0594 0.0147 Other and unspecified vascular occlusions 1.08e-05 0.147 0.033 ATP5SL rs2231943 19:41432317:C:T 19 41432317 C T 19:41938222 0.998014 12677 missense_variant unknown not provided not_provided no assertion provided none Prolonged pregnancy 0.00216 0.3187 0.1039 Prolonged pregnancy 2.795e-06 2.548 0.544 CEACAM5 rs12971352 19:41709853:A:G 19 41709853 A G 19:42213772 0.996812 67401 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.000454 0.0461 0.0131 Rash and other nonspecific skin eruption 0.000222 0.226 0.061 CEACAM5 rs28683503 19:41709863:T:C 19 41709863 T C 19:42213782 0.996811 67401 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.000454 0.0461 0.0131 Rash and other nonspecific skin eruption 0.000222 0.226 0.061 CEACAM5 rs34155934 19:41709949:A:G 19 41709949 A G 19:42213868 0.996779 67400 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.000456 0.0461 0.0131 Rash and other nonspecific skin eruption 0.0002219 0.226 0.061 CEACAM5 rs35091611 19:41709953:T:C 19 41709953 T C 19:42213872 0.996778 67400 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.000456 0.0461 0.0131 Rash and other nonspecific skin eruption 0.0002219 0.226 0.061 ATP1A3 rs919390 19:41966898:G:C 19 41966898 G C 19:42471050 0.986262 75010 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joints and ligaments at neck level 0.000273 -0.1427 0.0392 Personal history of certain other diseases 8.357e-05 0.361 0.092 ATP1A3 rs368371895 19:41970238:C:T 19 41970238 C T 19:42474390 0.919561 208 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Behavioural syndromes associated with physiological disturbances and physical factors 0.000117 2.1605 0.5607 ZNF526 rs3810151 19:42224684:T:C 19 42224684 T C 19:42728836 0.999244 18327 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Tubulo-interstitial nephritis, not spesified as acute or chronic 0.000202 0.4151 0.1117 Calculus of lower urinary tract 0.001529 1.648 0.52 ZNF526 rs150807158 19:42224969:C:T 19 42224969 C T 19:42729121 0.972569 0.00867747 32 3156 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified General symptoms and signs 2.75e-05 -0.1958 0.0467 0.0006428 4.265 1.25 ERF rs139842507 19:42248868:G:A 19 42248868 G A 19:42753020 0.971143 0.0185471 166 6648 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Craniosynostosis 1 Antenatal screening 8.71e-05 -0.2053 0.0523 Respiratory and cardiovascular disorders specific to the perinatal period 0.0004293 12.465 3.54 CIC rs143825601 19:42292155:C:G 19 42292155 C G 19:42796307 0.969516 0.000623319 0 229 missense_variant dominant not provided not_provided no assertion provided none Von Willebrand disease 2.7e-05 32.1937 7.6705 MEGF8 rs112167630 19:42370749:G:A 19 42370749 G A 19:42874901 0.991825 12421 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carpenter syndrome 2 Dislocation, sprain and strain of joints and ligaments of shoulder girdle 0.000164 -0.2453 0.0651 Medication related adverse effects (Asthma/COPD) 0.000472 -0.356 0.102 MEGF8 rs147216997 19:42375910:C:T 19 42375910 C T 19:42880062 0.954789 3033 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carpenter syndrome 2;not provided Other facial nerve disorders 0.000369 1.947 0.5467 Problems related to negative life events in childhood 0.0005163 8.856 2.551 MEGF8 rs148860986 19:42376011:G:A 19 42376011 G A 19:42880163 0.898244 475 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Meningitis 0.000246 4.7923 1.3072 MEGF8 rs141224456 19:42376413:C:T 19 42376413 C T 19:42880565 0.84469 321 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Care involving use of rehabilitation procedures 0.0012 0.9334 0.2881 LIPE rs45603141 19:42406302:C:T 19 42406302 C T 19:42910454 0.997165 5846 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Special screening examination for neoplasms 0.000304 1.009 0.2793 Abnormal findings on examination of other body fluids, substances and tissues, without diagnosis 3.519e-05 1.74 0.421 LIPE rs147012229 19:42408077:C:T 19 42408077 C T 19:42912229 0.992287 2928 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of upper respiratory tract 0.000127 0.1848 0.0482 Volvulus 0.003481 29.541 10.111 LIPE rs138983180 19:42410516:G:A 19 42410516 G A 19:42914668 0.973754 2423 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Foreign body in ear 0.00066 2.8454 0.8355 Chronic conjunctivitis 0.002303 58.359 19.146 LIPE rs34996020 19:42426569:G:A 19 42426569 G A 19:42930721 0.906869 462 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of contact with venomous animals 0.000122 6.0112 1.5647 PSG6 rs3198831 19:42916299:G:C 19 42916299 G C 19:43420451 0.997692 70184 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diffuse brain injury 0.000689 0.2459 0.0724 Diffuse brain injury 0.0004795 0.309 0.089 PSG2 rs149579909 19:43080959:C:G 19 43080959 C G 19:43585111 0.995419 27776 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dysplasia of cervi uteri 0.000152 0.1773 0.0468 Hypertension complicating pregnancy, childbirth, and the puerperium 0.0004794 0.285 0.082 PSG4 rs1058718 19:43195184:T:C 19 43195184 T C 19:43699336 0.9929 0.648521 155072 83187 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations and deformations of the musculoskeletal system 8.98e-05 -0.1902 0.0486 Congenital malformations and deformations of the musculoskeletal system 0.0001543 -0.126 0.033 CD177 rs182368720 19:43360274:C:T 19 43360274 C T 19:43864426 0.988025 1289 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter COPD (mode) 0.000282 0.7133 0.1964 PHLDB3 rs76853904 19:43502190:C:T 19 43502190 C T 19:44006342 0.93299 447 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetes mellitus in pregnancy 0.000965 1.1554 0.3501 ETHE1 rs138427304 19:43511564:C:T 19 43511564 C T 19:44015716 0.893146 587 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of skin of scalp and neck (other cancers excluded from controls) 0.000906 12.8211 3.8638 Perichondritis of external ear 0.0008355 95.807 28.678 ETHE1 rs116440799 19:43527117:C:A 19 43527117 C A 19:44031269 0.995047 141 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes with renal complications 0.000106 7.537 1.9443 XRCC1 rs25487 19:43551574:T:C 19 43551574 T C 19:44055726 0.999598 0.689663 174856 78518 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Pregnancy with abortive outcome 9.46e-05 -0.0529 0.0135 Pregnancy with abortive outcome 0.0002894 -0.032 0.009 XRCC1 rs1799782 19:43553422:G:A 19 43553422 G A 19:44057574 0.999828 13099 missense_variant recessive not provided not_provided no assertion provided none Intracranial injury 0.000212 -0.1659 0.0448 malignant neoplasm of male genital organs (other cancers excluded from controls) 0.000356 0.747 0.209 PLAUR rs138492321 19:43649096:T:C 19 43649096 T C 19:44153248 0.954409 215 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical observation and evaluation for suspected diseases and conditions 0.000243 -0.7892 0.2151 PLAUR rs140011964 19:43655570:C:T 19 43655570 C T 19:44159722 0.895043 360 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcerative colitis ( strict definition, all Crohn cases excluded) 0.000119 2.7977 0.7272 ZNF233 rs767558704 19:44274642:CG:C 19 44274642 CG C 19:44778795 0.998908 42173 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dementia 1e-04 0.1235 0.0318 Schizotypal disorder 0.0008856 0.606 0.182 CEACAM16 rs186687142 19:44703406:G:T 19 44703406 G T 19:45206676 0.937959 0.000734918 0 270 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chirrosis of liver, NAS 8.87e-05 8.9863 2.2927 CEACAM16 rs200297676 19:44704143:G:A 19 44704143 G A 19:45207413 0.928428 101 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of skin of scalp and neck 0.00127 25.6373 7.9562 BCAM rs28399653 19:44812188:G:A 19 44812188 G A 19:45315445 0.994314 0.0149079 92 5385 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Statin medication 3.73e-33 -0.4877 0.0407 Other menopausal disorders 0.0005367 5.53 1.597 BCAM rs1135062 19:44819487:A:G 19 44819487 A G 19:45322744 0.996241 0.291673 31438 75719 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Dementia 5.82e-05 0.0956 0.0238 Acute bronchiolitis 0.001283 0.235 0.073 TOMM40 rs11556510 19:44891562:T:G 19 44891562 T G 19:45394819 0.98119 0.0261059 286 9305 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease, wide definition 5.35e-06 -0.341 0.0749 Other diseases of intestine 0.000375 2.908 0.818 APOE rs769452 19:44907853:T:C 19 44907853 T C 19:45411110 0.995163 0.00781463 38 2833 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Alzheimer's disease, wide definition 5.04e-15 1.2218 0.1561 Deviated nasal septum 0.001331 2.626 0.818 APOE rs429358 19:44908684:T:C 19 44908684 T C 19:45411941 0.99757 0.182788 11772 55382 missense_variant both Likely pathogenic, other, risk factor risk factor criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease, wide definition 3.04e-283 1.2587 0.035 Alzheimer's disease, wide definition 7.698e-147 1.617 0.063 APOE rs7412 19:44908822:C:T 19 44908822 C T 19:45412079 0.996766 0.0532217 932 18621 missense_variant both drug response drug response reviewed by expert panel Criteria_multSubmitter Statin medication 1.07e-212 -0.6905 0.0222 Peripheral atherosclerosis 2.112e-06 0.785 0.166 TRAPPC6A rs142501705 19:45164241:A:T 19 45164241 A T 19:45667499 0.962072 2453 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Injuries to the head 0.000986 -0.23 0.0698 Alopecia areata 0.0008242 96.662 28.902 BLOC1S3 rs75792246 19:45179618:C:G 19 45179618 C G 19:45682876 0.967278 15667 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of continuity of bone 0.000176 0.4696 0.1252 Type 2 diabetes without complications 3.354e-06 0.576 0.124 CKM rs142092440 19:45306752:A:G 19 45306752 A G 19:45810010 0.974879 0.00485318 16 1767 stop_lost unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease, wide definition (more controls excluded) 3.61e-07 0.9836 0.1933 Sequelae of injuries of lower limb 0.000182 21.576 5.765 CKM rs149354459 19:45308434:C:G 19 45308434 C G 19:45811692 0.984011 2024 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Personal history of other diseases and conditions 0.00176 0.9599 0.3069 Dissocial personality disorder 0.0008138 102.545 30.628 CKM rs17875653 19:45315567:G:C 19 45315567 G C 19:45818825 0.979724 1255 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Nonspesific lymphadenitis 0.00155 1.4528 0.459 Rotator cuff syndrome 0.0007155 3.953 1.168 ERCC2 rs13181 19:45351661:T:G 19 45351661 T G 19:45854919 0.999799 0.422169 65670 89430 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease, wide definition 4.86e-11 -0.1609 0.0245 Any dementia 6.268e-07 -0.106 0.021 ERCC2 rs147224585 19:45353139:C:T 19 45353139 C T 19:45856397 0.939498 208 missense_variant recessive not provided not_provided no assertion provided none Spermatocele 0.000334 4.8832 1.3613 Abscess of lung 0.0002015 343.571 92.43 ERCC2 rs1799793 19:45364001:C:T 19 45364001 C T 19:45867259 0.996757 84698 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer disease 0.000459 -0.1035 0.0295 Problems related to employment and unemployment 0.0007186 0.331 0.098 CD3EAP rs3212986 19:45409478:C:A 19 45409478 C A 19:45912736 0.999783 0.218507 17516 62761 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Alzheimer's disease (Late onset) (more controls excluded) 4.25e-05 -0.1778 0.0434 Olecranon bursitis 4.298e-05 0.416 0.102 RTN2 rs143937661 19:45489419:C:T 19 45489419 C T 19:45992677 0.964655 321 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pilonidal cyst 0.000278 3.3473 0.9209 SIX5 rs2341097 19:45765644:C:T 19 45765644 C T 19:46268902 0.997588 0.300456 33680 76704 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cholelithiasis 6.73e-08 0.0785 0.0145 Disorders of vestibular function (Vertigo) 0.0001474 -0.091 0.024 SIX5 rs2014576 19:45765818:G:A 19 45765818 G A 19:46269076 0.996808 91489 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes with other specified/multiple/unspecified complications 0.000264 -0.0464 0.0127 6.723e-05 -0.063 0.016 SIX5 rs141944211 19:45768113:C:T 19 45768113 C T 19:46271371 0.914426 276 pLoF unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maternal care for known or suspected malpresentation of fetus 0.000399 2.7 0.7625 DMPK rs527221 19:45772718:G:C 19 45772718 G C 19:46275976 0.996335 44923 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis,primary 0.000564 -0.0638 0.0185 Unspecified diabetes 4.667e-05 0.284 0.07 DMPK rs61747614 19:45778128:G:A 19 45778128 G A 19:46281386 0.930237 303 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Granuloma annulare 0.000807 10.5389 3.1457 CCDC61 rs748603545 19:46016077:C:T 19 46016077 C T 19:46519335 0.878763 466 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic suppurative otitis media 0.000786 4.1984 1.2504 CCDC8 rs2279517 19:46411290:C:G 19 46411290 C G 19:46914547 0.993093 34431 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other necrotizing vasculopathies 0.000742 0.3008 0.0892 Volvulus 5.009e-05 1.537 0.379 CCDC8 rs75175362 19:46411670:C:T 19 46411670 C T 19:46914927 0.993189 34383 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other necrotizing vasculopathies 0.000956 0.2945 0.0892 Volvulus 5.053e-05 1.537 0.379 CCDC8 rs143086771 19:46411857:A:C 19 46411857 A C 19:46915114 0.961396 269 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bulimia nervosa (incl. atypical) 0.00184 5.0832 1.6316 FKRP rs143793528 19:46755791:C:G 19 46755791 C G 19:47259048 0.967417 2334 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;Walker-Warburg congenital muscular dystrophy;not provided;not specified Other and unspecified abdominal hernia 0.000597 1.7104 0.4982 0.0006262 116.577 34.087 FKRP rs28937900 19:46756276:C:A 19 46756276 C A 19:47259533 0.98366 0.00160049 0 588 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative colitis (strict definition, require KELA, min 2 HDR) 6e-05 2.0122 0.5014 SLC1A5 rs79376478 19:46777006:T:G 19 46777006 T G 19:47280263 0.914167 586 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other otitis externa (chronic) 0.00014 3.3797 0.8874 ZC3H4 rs148480867 19:47071966:GGCATGTCTGCGT:G 19 47071966 GGCATGTCTGCGT G 19:47575223 0.938941 2475 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bronchitis 0.000677 0.2207 0.0649 Guillain-Barre syndrome 0.001198 70.459 21.75 DHX34 rs778343320 19:47379900:TGGAGGA:T 19 47379900 TGGAGGA T 19:47883157 0.955517 1052 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tic disorders 0.00026 6.3938 1.7509 Hordeolum and other deep inflammation of eyelid 0.0007079 112.966 33.358 KPTN rs1291492954 19:47479918:G:GACCGACCACATCTGCAGA 19 47479918 G GACCGACCACATCTGCAGA 19:47983175 0.940308 461 inframe_indel recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified acute skin changes due to ultraviolet radiation 0.000234 6.2259 1.6922 KPTN rs201572880 19:47481031:A:G 19 47481031 A G 19:47984288 0.996026 2085 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute alcohol intoxication 0.00197 0.5785 0.1869 Gout, FINNGEN 0.0001467 6.939 1.828 CRX rs61748438 19:47836338:G:A 19 47836338 G A 19:48339595 0.940101 0.00786362 24 2865 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leber congenital amaurosis;not provided;not specified Recurrent dislocation of patella 6.27e-05 1.4331 0.3581 Hydatidiform mole 0.002059 43.786 14.209 LIG1 rs146309259 19:48121298:C:T 19 48121298 C T 19:48624555 0.997604 1772 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of ankle and foot 0.000187 2.3744 0.6355 Disorders of puberty 0.0003665 177.38 49.782 LIG1 rs4987069 19:48137645:G:A 19 48137645 G A 19:48640902 0.968017 5940 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other headache syndromes 0.0012 0.2383 0.0736 Giant cell arteritis 0.00155 8.618 2.723 CCDC114 rs74351635 19:48297073:C:T 19 48297073 C T 19:48800330 0.981012 2432 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Other abnormalities of plasma proteins 0.00161 3.283 1.041 0.0002665 1.45 0.398 CCDC114 rs74925056 19:48297076:G:A 19 48297076 G A 19:48800333 0.997027 0.0200061 172 7178 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Isolated proteinuria with specified morphological lesion 9.51e-05 1.2849 0.3292 Testicular dysfunction 3.558e-05 14.443 3.493 CCDC114 rs61747754 19:48297494:C:A 19 48297494 C A 19:48800751 0.998691 27192 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Barret oesophagus 0.000218 0.5397 0.146 Cauda equina syndrome 0.0003626 2.967 0.832 CCDC114 rs35461177 19:48297657:G:A 19 48297657 G A 19:48800914 0.998096 0.279538 28910 73789 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis 5.4e-05 0.0871 0.0216 Endometriosis 0.0005918 0.087 0.025 CCDC114 rs148823991 19:48298021:G:A 19 48298021 G A 19:48801278 0.961038 295 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Premature separation of placenta [abruptio placentae] 0.00291 6.566 2.2052 CCDC114 rs35361179 19:48302837:C:T 19 48302837 C T 19:48806094 0.977441 6829 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified Other disorders of skin and subcutaneous tissue 0.000325 -0.2095 0.0583 Dislocation, sprain and strain of joints and ligaments of elbow 0.0007679 5.279 1.569 CCDC114 rs145629439 19:48303998:C:T 19 48303998 C T 19:48807255 0.995072 2342 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Injury of muscle and tendon at lower leg level 0.00073 0.7449 0.2205 Malignant neoplasm of cervix uteri 0.001481 8.293 2.609 CCDC114 rs16981988 19:48318500:G:A 19 48318500 G A 19:48821757 0.989962 0.0104168 62 3765 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;not specified UC patients in KELA-register ( KELA 208 prior to 1994, or ICD K51) 2.48e-05 0.6516 0.1545 Other diseases of the digestive system 0.0001438 3.45 0.908 SULT2B1 rs117476816 19:48575967:G:A 19 48575967 G A 19:49079224 0.994693 1927 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of other connective and soft tissue (other cancers excluded from controls) 0.00146 2.4646 0.7744 Thyrotoxicosis with diffuse goitr 7.755e-05 10.696 2.707 SULT2B1 rs16982149 19:48576021:T:C 19 48576021 T C 19:49079278 0.989208 0.00562893 24 2044 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis,primary 9.02e-05 -0.3394 0.0867 Acute nasopharyngitis(common cold) 0.001179 8.8 2.713 SULT2B1 rs146884008 19:48596896:G:A 19 48596896 G A 19:49100153 0.978906 322 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Certain disorders involving the immune mechanism 0.000245 2.1421 0.5841 SPHK2 rs145253804 19:48629324:G:T 19 48629324 G T 19:49132581 0.993627 1696 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bronchiectasis 0.000686 1.3398 0.3946 Pemphigoid 4.583e-06 110.66 24.146 DBP rs36008846 19:48636925:C:T 19 48636925 C T 19:49140182 0.970524 1296 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other reactioin to severe stress, and adjustment disorders 0.00027 0.6454 0.1772 Vestibular neuronitis 0.002294 37.351 12.249 FUT2 rs601338 19:48703417:G:A 19 48703417 G A 19:49206674 0.997446 0.374424 51810 85749 pLoF recessive Benign, association association no assertion criteria provided no_Criteria Statin medication 5.85e-08 0.0544 0.01 Intestinal infectious diseases 4.014e-09 -0.069 0.012 BCAT2 rs117048185 19:48806519:G:C 19 48806519 G C 19:49309776 0.984773 2871 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Other and unspecified parts of mouth 0.000165 1.7303 0.4594 Personal history of risk-factors, not elsewhere classified 0.001192 72.998 22.524 GYS1 rs5447 19:48977986:T:C 19 48977986 T C 19:49481243 0.997087 18274 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glycogen storage disease 0, muscle;not specified Idiopathic urticaria 0.000207 0.9823 0.2647 Coronary atherosclerosis 0.0004617 -0.305 0.087 GYS1 rs5464 19:48982291:G:A 19 48982291 G A 19:49485548 0.988867 71806 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fall on same level 0.000625 -0.2743 0.0802 Vertical strabismus 0.001166 0.362 0.112 LHB rs116437960 19:49016261:G:T 19 49016261 G T 19:49519518 0.911994 1231 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Tinnitus 0.00194 0.8322 0.2685 LHB rs34349826 19:49016626:A:G 19 49016626 A G 19:49519883 0.993155 44191 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter LUTEINIZING HORMONE POLYMORPHISM Angina pectoris 0.000537 -0.076 0.022 Postmenopausal atrophic vaginitsi 0.0001708 0.706 0.188 LHB rs1800447 19:49016648:A:G 19 49016648 A G 19:49519905 0.99314 44191 missense_variant recessive no interpretation for the single variant not_provided no interpretation for the single variant none Angina pectoris 0.000536 -0.076 0.022 Postmenopausal atrophic vaginitsi 0.0001709 0.706 0.188 CGB2 rs62126039 19:49033133:C:A 19 49033133 C A 19:49536390 0.976512 75055 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperkalaemia 0.000675 -0.2753 0.081 Cervical root disorders 0.0005984 0.663 0.193 NTF4 rs121918427 19:49061382:G:A 19 49061382 G A 19:49564639 0.997622 4054 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting no assertion criteria provided no_Criteria Glaucoma 1, open angle, O Benign neoplasm: Anus and anal canal 0.00101 1.4675 0.4463 Lumbosacral root disorders, not elsewhere classified 0.002465 39.839 13.159 NTF4 rs61732310 19:49061735:G:A 19 49061735 G A 19:49564992 0.927705 263 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Dialysis 0.000185 6.9768 1.8661 TRPM4 rs113984787 19:49167950:G:A 19 49167950 G A 19:49671207 0.996404 11984 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer disease (more controls excluded) 0.000106 -0.337 0.0869 Non-small cell lung cancer 0.0005431 2.099 0.607 TRPM4 rs144781529 19:49167957:A:G 19 49167957 A G 19:49671214 0.839981 122 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm: Other and unspecified parts of small intestine 0.000181 16.8273 4.4939 TRPM4 rs144208673 19:49168688:C:T 19 49168688 C T 19:49671945 0.989161 359 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Foreign body in ear 0.00189 7.8004 2.5105 TRPM4 rs146564314 19:49168695:G:A 19 49168695 G A 19:49671952 0.966114 0.00854954 32 3109 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Progressive familial heart block type 1B;not specified Disorders related to short gestation and low birth weight, not elsewhere classified 4.16e-05 3.4431 0.8401 Presbyopia 0.0001642 24.208 6.424 TRPM4 rs111930830 19:49168723:G:A 19 49168723 G A 19:49671980 0.997275 12329 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Progressive familial heart block;Progressive familial heart block type 1B;not specified Alzheimer's disease, wide definition (more controls excluded) 0.00014 -0.2777 0.0729 Non-small cell lung cancer 0.0008019 1.921 0.573 TRPM4 rs148763371 19:49172040:T:G 19 49172040 T G 19:49675297 0.966489 244 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Antepartum haemorrhage, not elsewhere classified 0.000418 4.4333 1.2564 TRPM4 rs1367254203 19:49182771:CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT:C 19 49182771 CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT C 19:49686028 0.948659 1909 inframe_indel dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glaucoma suspect 0.000608 0.617 0.18 Calcific tendinitis of shoulder 0.00231 40.322 13.233 TRPM4 rs71352737 19:49182889:G:A 19 49182889 G A 19:49686146 0.977987 1641 pLoF dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Progressive familial heart block type 1B;Sudden cardiac death;not specified Childhood allergy (age < 16) 0.000179 0.9888 0.2639 Malignant neoplasm, without specification of site 0.00124 70.792 21.921 TRPM4 rs56355369 19:49183151:A:C 19 49183151 A C 19:49686408 0.934294 1185 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Progressive familial heart block type 1B;Ventricular fibrillation;not specified Family history of malignant neoplasm 0.000117 2.0106 0.5219 Other congenital malformations of circulatory system 0.0004606 151.643 43.294 TRPM4 rs140799936 19:49200394:A:T 19 49200394 A T 19:49703651 0.991777 614 pLoF dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspecified acute lower respiratory infection 0.00337 1.3259 0.4522 TRPM4 rs182262420 19:49202044:G:A 19 49202044 G A 19:49705301 0.978815 0.00122486 0 450 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cerebrovascular diseases (FINNGEN) 9.48e-06 1.1829 0.2671 TRPM4 rs150391806 19:49211240:C:T 19 49211240 C T 19:49714497 0.993261 3172 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Progressive familial heart block type 1B;not specified Other symptoms and signs involving the digestive system and abdomen 0.00233 0.5515 0.1811 Non-allergic asthma 0.0007319 5.09 1.507 FCGRT rs150420714 19:49514281:G:C 19 49514281 G C 19:50017538 0.994508 0.0117424 60 4254 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) 2.82e-06 0.3793 0.081 Diabetic retinopathy 0.001252 1.433 0.444 PRR12 rs73058047 19:49594489:G:A 19 49594489 G A 19:50097746 0.985381 285 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Heterophoria 0.000335 4.6978 1.3098 PRR12 rs200340380 19:49595941:G:A 19 49595941 G A 19:50099198 0.945472 0.00458643 8 1677 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries involving multiple body regions 2.35e-05 3.12 0.7378 Secondary polycythaemia 0.0007165 101.504 30.003 PRR12 rs201499347 19:49596650:A:T 19 49596650 A T 19:50099907 0.965834 619 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chrondropathies 0.00034 1.5534 0.4336 PRR12 rs202038770 19:49597708:G:A 19 49597708 G A 19:50100965 0.94182 186 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary parkinsonism 0.000596 12.673 3.6911 PRR12 rs200319638 19:49615928:C:G 19 49615928 C G 19:50119185 0.954599 177 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other problems related to primary support group, including family circumstances 0.000235 3.56 0.968 RRAS rs61760904 19:49636675:C:T 19 49636675 C T 19:50139932 0.987731 1770 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Noonan syndrome;not provided Type 2 diabetes with coma 0.000457 -0.9025 0.2575 0.001422 4.441 1.392 RRAS rs151014532 19:49639954:A:G 19 49639954 A G 19:50143211 0.911276 197 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joint and ligaments of hip 0.0019 8.1807 2.6343 SCAF1 rs45513592 19:49646556:G:T 19 49646556 G T 19:50149813 0.968201 0.00641012 8 2347 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other contact dermatitis 9.04e-05 1.224 0.3127 Other and unspecified paralytic syndromes 0.0003895 186.523 52.585 IRF3 rs143769046 19:49662101:C:T 19 49662101 C T 19:50165358 0.959905 1139 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Herpes simplex encephalitis, susceptibility to, 7 Pollen allergy 0.000531 1.049 0.3028 Diseases of spleen 0.0003641 198.274 55.62 CPT1C rs150291550 19:49700693:A:C 19 49700693 A C 19:50203950 0.96092 0.00249872 6 912 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spastic paraplegia 73, autosomal dominant Statin medication 7.07e-05 -0.3777 0.095 Disturbances of skin sensation 0.0001101 22.287 5.763 CPT1C rs774134053 19:49710792:A:G 19 49710792 A G 19:50214049 0.873077 269 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter ILD-related co-morbidities 0.000593 -0.4843 0.141 CPT1C rs143478074 19:49711857:G:A 19 49711857 G A 19:50215114 0.988911 0.00349222 12 1271 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spastic paraplegia 73, autosomal dominant Diabetic retinopathy 5.79e-06 1.1478 0.2532 Follicular lymphoma (other cancers excluded from controls) 0.0006725 119.957 35.276 CPT1C rs79488403 19:49712793:C:A 19 49712793 C A 19:50216050 0.950978 788 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Family history of malignant neoplasm 0.000574 2.1894 0.6358 CPT1C rs113511313 19:49713585:A:G 19 49713585 A G 19:50216842 0.988812 1402 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cystitis 0.000399 -0.5402 0.1526 FUZ rs139365610 19:49807348:C:T 19 49807348 C T 19:50310605 0.964526 254 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Care involving use of rehabilitation procedures 0.00118 0.9921 0.3058 MED25 rs145770066 19:49830790:C:T 19 49830790 C T 19:50334047 0.989283 0.00479602 16 1746 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease;Charcot-Marie-Tooth disease type 2B2;Charcot-Marie-Tooth disease, type 2;not provided Hypertensive Heart Disease 7.72e-06 0.909 0.2032 Ulcer of oesophagus 4.285e-06 19.76 4.298 MED25 rs193291405 19:49835586:C:G 19 49835586 C G 19:50338843 0.97546 2463 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;not specified Pre-eclampsia or eclampsia 7e-04 0.5526 0.163 Hyperprolactinaemia 0.0005765 121.654 35.339 MED25 rs185100172 19:49835774:C:T 19 49835774 C T 19:50339031 0.988717 0.00450477 16 1639 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2;not specified Other and unspecified urticaria 6.24e-06 1.0537 0.2332 Benign neoplasm: Rectum (other cancers excluded from controls) 0.000169 33.281 8.848 MED25 rs57854058 19:49836291:G:A 19 49836291 G A 19:50339548 0.980383 1005 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertensive diseases (excluding secondary) 0.0013 -0.3567 0.1109 MED25 rs371157406 19:49836348:G:A 19 49836348 G A 19:50339605 0.95677 0.00485318 4 1779 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Charcot-Marie-Tooth disease, type 2 Abnormalities of heart beat 4.55e-05 0.6632 0.1626 Oesophageal obstruction 0.0003502 202.765 56.718 PNKP rs201503405 19:49862573:G:A 19 49862573 G A 19:50365830 0.993337 1979 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ataxia-oculomotor apraxia 4;Early infantile epileptic encephalopathy 10;Epileptic encephalopathy;not provided Dislocation of lens 0.000294 3.3933 0.9372 Normal-pressure hydrocephalus 0.00389 26.688 9.245 PNKP rs34472250 19:49865209:C:T 19 49865209 C T 19:50368466 0.983329 176 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inflammatory diseases of the central nervous system 0.00128 4.2991 1.3351 PNKP rs3739173 19:49866409:G:A 19 49866409 G A 19:50369666 0.945348 153 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Urethral stricture 0.000686 6.8412 2.0149 PNKP rs3739168 19:49867147:G:A 19 49867147 G A 19:50370404 0.991586 968 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lupus erythematosus 0.00138 3.3838 1.0579 NUP62 rs1062798 19:49908960:C:G 19 49908960 C G 19:50412217 0.996978 91612 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria Non-ischemic cardiomyopathy 0.000317 0.0599 0.0166 Injury of muscle and tendon at shoulder and upper arm level 0.0004363 0.066 0.019 SIGLEC11 rs62113133 19:49959041:G:C 19 49959041 G C 19:50462298 0.989962 0.192802 13964 56869 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Papulosquamous disorders 8.48e-06 -0.1195 0.0268 Superficial injury of head 0.0001285 0.226 0.059 MYH14 rs590722 19:50210456:C:A 19 50210456 C A 19:50713713 0.978349 40530 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Eating disorders 0.0011 -0.1878 0.0575 Chronic rhinitsi, nasopharyngitis and pharyngitis 0.002549 -0.193 0.064 MYH14 rs199910006 19:50210759:G:A 19 50210759 G A 19:50714016 0.844526 816 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hypertensive Renal Disease 0.00111 3.0211 0.9262 Disorders of calcium metabolism 0.001562 141.421 44.711 MYH14 rs34773557 19:50217692:G:A 19 50217692 G A 19:50720949 0.996402 4266 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;not provided;not specified Non-follicular lymphoma 0.000215 0.8942 0.2417 Other/unspecified disorders of vestibular function 0.0005168 14.321 4.125 MYH14 rs119103280 19:50244277:G:T 19 50244277 G T 19:50747534 0.918887 93 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Campylobacter enteritis 0.00095 13.3474 4.0386 0.0004294 14.189 4.029 MYH14 rs201746408 19:50271473:C:T 19 50271473 C T 19:50774730 0.861389 199 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified corneal deformities and disorders 0.000141 11.4839 3.0177 MYH14 rs11669191 19:50276825:C:A 19 50276825 C A 19:50780082 0.992612 8440 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;not provided;not specified Eustachian salpingitis and obstruction 0.000155 -0.5827 0.154 Failed attempted abortion 0.0008757 11.513 3.46 MYH14 rs202225655 19:50280098:G:A 19 50280098 G A 19:50783355 0.972199 4007 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Dominant;not specified Benign neoplasm: Larynx 0.00181 1.3334 0.4274 Prepatellar bursitis 0.0005872 13.177 3.833 MYH14 rs746594902 19:50281748:G:A 19 50281748 G A 19:50785005 0.958316 799 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other aneurysm 0.000721 2.8529 0.8437 MYH14 rs199600574 19:50301724:C:T 19 50301724 C T 19:50804981 0.992516 0.0188357 116 6804 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Atrial fibrillation and flutter 5.45e-09 0.3329 0.0571 0.0002464 7.744 2.112 KCNC3 rs549394447 19:50323182:T:C 19 50323182 T C 19:50826439 0.988382 1026 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Heartburn 0.000188 2.0256 0.5425 Benign neoplasm: Pancreas 0.0004536 169.041 48.204 POLD1 rs150066950 19:50398931:A:T 19 50398931 A T 19:50902188 0.950223 498 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Fibromyalgia 0.00074 4.258 1.2619 POLD1 rs3218772 19:50398939:C:T 19 50398939 C T 19:50902196 0.968644 1179 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colorectal cancer 10;Hereditary cancer-predisposing syndrome;not provided;not specified Other diseases of spinal cord 0.00139 2.8621 0.8951 Fracture of neck 0.001879 54.477 17.524 POLD1 rs1726801 19:50401817:G:A 19 50401817 G A 19:50905074 0.996852 14465 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary cancer-predisposing syndrome;not provided;not specified Beningn neoplasm: Meninges, unspecified 0.000265 1.1141 0.3055 Vocal cord dysfunction 0.003018 2.194 0.74 POLD1 rs137953986 19:50401894:G:A 19 50401894 G A 19:50905151 0.996672 3819 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colon cancer;Colorectal cancer 10;Hereditary cancer-predisposing syndrome;not provided;not specified Nontoxic diffuse goitre 0.00028 1.4622 0.4024 Chronic laryngitis and laryngotracheitis 0.0001087 9.532 2.463 POLD1 rs144656348 19:50402116:C:G 19 50402116 C G 19:50905373 0.983534 1704 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Colorectal cancer 10;Hereditary cancer-predisposing syndrome;not provided;not specified Diseases of the ear and mastoid process 0.00103 -0.2077 0.0633 Inflammatory diseases of the central nervous system 0.0006056 12.998 3.79 POLD1 rs149569984 19:50408804:G:A 19 50408804 G A 19:50912061 0.992408 317 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Infective bursitis 0.000546 7.3654 2.1304 POLD1 rs144143245 19:50409564:G:C 19 50409564 G C 19:50912821 0.932092 178 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Melanoma in situ 0.00042 12.6706 3.5926 POLD1 rs3218775 19:50414972:G:A 19 50414972 G A 19:50918229 0.990039 2762 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Colorectal cancer 10;Hereditary cancer-predisposing syndrome;not provided;not specified Other and unspecified disorders of white blood cells 0.000596 1.7028 0.496 Other contact dermatitis 0.0008971 10.722 3.229 POLD1 rs3218752 19:50416623:G:A 19 50416623 G A 19:50919880 0.957243 251 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of breast, other/unspecified 0.000224 16.031 4.3443 POLD1 rs369613619 19:50416710:G:A 19 50416710 G A 19:50919967 0.864554 463 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Secondary polycythaemia 0.000207 9.6912 2.6116 SPIB rs11546996 19:50423008:G:C 19 50423008 G C 19:50926265 0.997177 0.817174 245652 54568 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Interstitial lung disease endpoints 9.85e-05 -0.0612 0.0157 MS-disease / Multiple Sclerosis 0.0001244 -0.145 0.038 SHANK1 rs200473891 19:50666573:C:T 19 50666573 C T 19:51169830 0.876131 446 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain in throat and chest 0.000681 -0.6348 0.1869 ACPT rs143398878 19:50794578:G:C 19 50794578 G C 19:51297835 0.994196 9912 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other behavioural and emotional disorders with onset usually occuring in childhood and adolescence 0.000107 0.6959 0.1797 Dermatitis herpetiformis 0.0003374 7.126 1.988 KLK1 rs5515 19:50820420:C:T 19 50820420 C T 19:51323676 0.995939 3627 missense_variant unknown Affects association no assertion criteria provided no_Criteria Kallikrein, decreased urinary activity of Malignant neoplasm of bladder (other cancers excluded from controls) 0.000708 0.828 0.2445 Diseases of peritoneum 0.0001023 10.057 2.588 KLK14 rs117229324 19:51082721:C:T 19 51082721 C T 19:51585978 0.99014 3323 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obesity related asthma 0.000779 -0.493 0.1467 Schizoid personality disorder 0.0001614 14.803 3.923 VSIG10L rs141732375 19:51341816:A:T 19 51341816 A T 19:51845070 0.994411 1778 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specific arthropathies 0.000571 2.6426 0.7671 0.0006179 -2.448 0.715 ETFB rs1130426 19:51347036:G:A 19 51347036 G A 19:51850290 0.995576 87034 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Any death 0.000954 0.0496 0.015 0.001265 -0.021 0.006 ETFB rs147353781 19:51353215:G:A 19 51353215 G A 19:51856469 0.97349 665 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Transient ischemic attack 0.000485 0.7563 0.2168 Excessive, freguent and irrelgular menstruation 4.019e-05 1.81 0.441 ETFB rs141529162 19:51354360:T:TG 19 51354360 T TG 19:51857614 0.951114 10611 pLoF recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sleep disorders 0.000118 -0.4089 0.1062 Other and unspecified injuries of wrist and hand 6.967e-05 6.415 1.613 ETFB rs140608276 19:51354404:C:T 19 51354404 C T 19:51857658 0.981647 4023 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Somnolence, stupor and coma 0.000637 1.1072 0.3242 Unspesified nephritic syndrome 0.001585 8.419 2.665 ETFB rs79338777 19:51354484:G:A 19 51354484 G A 19:51857738 0.995124 32634 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified severe traumatic brain injury, does not include concussion 0.000151 0.1914 0.0505 Heterophoria 0.0003921 0.697 0.197 ETFB rs143144671 19:51354520:T:G 19 51354520 T G 19:51857774 0.983997 1624 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Glutaric aciduria, type 2;not specified Focal epilepsy 0.000926 1.8532 0.5595 Use of antiglaucoma preparations and miotics 9.84e-05 25.342 6.507 ETFB rs61361626 19:51354620:C:CCCACAG 19 51354620 C CCCACAG 19:51857874 0.989619 0.00574053 22 2087 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Glutaric aciduria, type 2;not specified Other dorsopathies, not elsewhere classified 1.07e-05 0.2763 0.0628 Habitual aborter 0.0006886 111.826 32.947 SIGLEC10 rs61741677 19:51416744:T:C 19 51416744 T C 19:51919998 0.993591 42436 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obesity, other/unspecified 0.000724 0.1261 0.0373 Bursitis of shoulder 1.895e-05 1.277 0.299 SIGLEC12 rs66949844 19:51501537:G:GC 19 51501537 G GC 19:52004791 0.999035 82756 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoid syndrome 0.000185 -0.5131 0.1372 Carcinoid syndrome 0.0002359 -0.342 0.093 SIGLEC6 rs62617068 19:51531295:C:A 19 51531295 C A 19:52034549 0.991095 2947 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasms of uterus 0.00126 0.9877 0.3064 Diseases of oesophagus, stomach and duodenum 0.0001637 1.456 0.386 HAS1 rs45625331 19:51713921:C:T 19 51713921 C T 19:52217174 0.912677 762 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperosmolality and hypernatraemia 0.000221 9.5604 2.5883 Hyperosmolality and hypernatraemia 1.083e-05 1510.594 343.32 FPR1 rs867228 19:51745958:T:G 19 51745958 T G 19:52249211 0.991475 60417 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of cerebrovascular disease 0.00369 0.0901 0.031 Pilonidal cyst 0.0008658 0.106 0.032 FPR1 rs1042229 19:51746419:A:C 19 51746419 A C 19:52249672 0.888656 70208 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of synovium and tendon 0.00209 -0.0617 0.0201 Retained placenta and membranes, without haemorrhage 0.00228 -0.256 0.084 FPR1 rs139760904 19:51746436:G:A 19 51746436 G A 19:52249689 0.837649 0.000220475 0 81 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Tongue abnormality 6.82e-05 16.5931 4.1666 FPR1 rs111768566 19:51746507:C:T 19 51746507 C T 19:52249760 0.987307 537 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital deformities of hip 0.000363 8.286 2.3237 FPR1 rs2070745 19:51746694:C:G 19 51746694 C G 19:52249947 0.991712 89888 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain, not elsewhere classified 0.000628 0.0944 0.0276 Female infertility 0.000847 0.064 0.019 FPR1 rs78488639 19:51746706:G:T 19 51746706 G T 19:52249959 0.970593 5186 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Periodontitis Dystonia 0.00117 0.8256 0.2543 Diseases of inner ear 0.000108 1.682 0.435 FPR1 rs5030878 19:51746963:A:G 19 51746963 A G 19:52250216 0.99808 57492 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Childhood asthma (age<16) (more controls excluded) 0.000421 0.1438 0.0408 4.074e-05 0.041 0.01 FPR2 rs74602258 19:51768878:T:C 19 51768878 T C 19:52272131 0.993534 4958 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of male genital organs 0.000126 0.2075 0.0541 Peroneal tendinitis 2.474e-05 59.532 14.117 ZNF432 rs117633649 19:52034081:C:T 19 52034081 C T 19:52537334 0.996187 0.0181824 136 6544 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other orthopaedic follow-up care 7.26e-05 0.8499 0.2142 0.001911 2.469 0.796 PPP2R1A rs41275796 19:52190287:C:T 19 52190287 C T 19:52693540 0.997206 10309 missense_variant dominant not provided not_provided no assertion provided none not specified Systemic sclerosis 0.000615 1.021 0.2981 Certain infectious and parasitic diseases 0.001529 0.283 0.089 ZNF480 rs3217319 19:52300416:CTG:C 19 52300416 CTG C 19:52803669 0.982698 64965 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to use of other stimulants, including caffeine 0.00015 -0.3417 0.0901 Mental and behavioural disorders due to use of other stimulants, including caffeine 0.0001565 -0.205 0.054 ZNF528 rs562901913 19:52415231:AG:A 19 52415231 AG A 19:52918484 0.953802 430 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of shoulder and upper arm 0.000616 1.1292 0.3298 0.0001856 6.014 1.609 ZNF528 rs150257846 19:52416134:C:T 19 52416134 C T 19:52919387 0.992601 2193 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Behauvioural and emotional disorders with onset usually occuring in childhood and adolescence 0.000216 -0.7881 0.213 Other overlap syndromes 0.001931 47.602 15.352 ZNF528 rs146381631 19:52416371:A:T 19 52416371 A T 19:52919624 0.991765 6919 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of urinary organs (other cancers excluded from controls) 0.000241 0.9955 0.2711 Polyuria 0.0008674 2.328 0.699 ZNF83 19:52613680:GCCACACTCATTACATTTGTAAGGTTTCTCTCCAGTGTGGATTCTCTGATGTTGTGCAAGGTGTGAAATATGATGGAAGACCTTT:G 19 52613680 GCCACACTCATTACATTTGTAAGGTTTCTCTCCAGTGTGGATTCTCTGATGTTGTGCAAGGTGTGAAATATGATGGAAGACCTTT G 19:53116933 0.967139 60356 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma mixed form (mode) 0.000254 0.2865 0.0783 Leiomyoma of uterus 4.882e-05 -0.105 0.026 ZNF600 rs117125329 19:52765737:C:G 19 52765737 C G 19:53268990 0.966653 0.00956754 42 3473 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enterocolitis due to Clostridium difficile 3.84e-05 1 0.2429 Ulcerative proctitis 0.0005261 13.779 3.974 ZNF600 rs146821330 19:52767673:T:C 19 52767673 T C 19:53270926 0.983272 2219 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital deformities of feet 0.000159 2.6582 0.7038 Benign neoplasm: Vagina 0.0004715 161.39 46.158 ZNF331 rs112855712 19:53576886:A:T 19 53576886 A T 19:54080140 0.970094 3997 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyspnoea 0.000279 -0.2385 0.0656 Other shoulder lesions 0.0001313 9.244 2.417 NLRP12 rs150671525 19:53803958:G:C 19 53803958 G C 19:54307212 0.951128 176 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Symptoms and signs involving the digestive system and abdomen 0.000524 0.6595 0.1901 NLRP12 rs150848917 19:53807597:T:C 19 53807597 T C 19:54310851 0.991511 7445 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Familial cold autoinflammatory syndrome;Familial cold autoinflammatory syndrome 2 Other congenital malformations of tongue, mouth and pharynx 0.000271 1.8802 0.5163 Maternal care for other conditions predominantly related to pregnancy 0.0003329 1.882 0.524 NLRP12 rs34971363 19:53810453:G:C 19 53810453 G C 19:54313707 0.988721 18453 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO;Familial cold autoinflammatory syndrome;not specified Hereditary corneal dystrophies 0.00103 0.6767 0.2063 Suppurative otitis media, unspecified 0.001457 2.081 0.654 NLRP12 rs141245482 19:53810749:G:A 19 53810749 G A 19:54314003 0.964141 8017 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial cold autoinflammatory syndrome;Familial cold autoinflammatory syndrome 2;not specified Infections of genitourinary tract in pregnancy 0.000418 0.8252 0.2339 Follicular cysts of skin and subcutaneous tissue 0.0008647 1.894 0.569 NLRP12 rs34436714 19:53824059:C:A 19 53824059 C A 19:54327313 0.992792 0.198597 14566 58396 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease (Early onset) (more controls excluded) 1.62e-05 0.3593 0.0833 Alzheimer's disease (Early onset) (more controls excluded) 1.096e-06 0.661 0.136 PRKCG rs115832790 19:53891782:G:A 19 53891782 G A 19:54395036 0.943373 1100 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Male infertility 0.000545 2.3857 0.69 Disorders of lacrimal system and orbit in diseases classified elsewhere 0.000416 182.132 51.599 CNOT3 rs149108037 19:54148163:G:A 19 54148163 G A 19:54651898 0.879332 94 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Impingement syndrome of shoulder 0.000714 2.8665 0.8471 MBOAT7 rs79199039 19:54174099:C:T 19 54174099 C T 19:54677793 0.962362 4346 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Barret oesophagus 0.0016 1.162 0.3682 Malignant neoplasm of oesophagus (other cancers excluded from controls) 0.000168 23.579 6.266 NLRP7 rs104895526 19:54936405:G:A 19 54936405 G A 19:55447773 0.916135 125 missense_variant recessive not provided not_provided no assertion provided none Hyperosmolality and hypernatraemia 0.000535 28.6691 8.2799 NLRP7 rs104895506 19:54938096:G:A 19 54938096 G A 19:55449464 0.990435 772 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Hydatidiform mole Benign neoplasm: Skin of upper limb, including shoulder 0.000779 4.9449 1.4716 Other renal tubulo-interstitial diseases 0.0005762 129.575 37.639 NLRP7 rs149696586 19:54939101:C:T 19 54939101 C T 19:55450469 0.987574 5524 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hydatidiform mole Voice disturbances 0.00034 0.391 0.1091 Biliary chirrosis, primary 5.299e-05 40.674 10.063 NLRP7 rs61743949 19:54939287:T:C 19 54939287 T C 19:55450655 0.997888 2086 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Fall on same level 0.00136 1.6944 0.5291 Personal history of certain other diseases 0.0004841 158.629 45.46 NLRP7 rs775881 19:54939359:C:T 19 54939359 C T 19:55450727 0.975993 14054 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hydatidiform mole;not specified Other abnormal immunological findings in serum 0.000967 0.9789 0.2966 Soft tissue disorders 0.000331 0.267 0.074 NLRP7 rs61747414 19:54939378:C:T 19 54939378 C T 19:55450746 0.982087 43225 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Certain infectious and parasitic diseases 0.00129 0.037 0.0115 0.0006033 -0.334 0.097 NLRP7 rs10418277 19:54939682:C:G 19 54939682 C G 19:55451050 0.830508 9847 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydatidiform mole Iridocyclitis in diseases classified elsewhere 0.000338 1.5282 0.4263 Kela-cod for severe mental illness 0.0005195 1.34 0.386 NLRP7 rs775882 19:54939864:C:T 19 54939864 C T 19:55451232 0.996641 60750 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative rectosigmoiditis 0.000748 0.1966 0.0583 Other diabetic retinopathy 0.0004749 0.324 0.093 NLRP7 rs184816368 19:54941720:G:A 19 54941720 G A 19:55453088 0.971136 1409 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Weight loss 0.000156 1.7035 0.4504 0.000493 -3.411 0.979 NLRP2 rs142463014 19:54970026:C:T 19 54970026 C T 19:55481394 0.984588 2459 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of intestine 0.00208 2.6535 0.862 Asthma mixed form (mode) 0.0003544 16.296 4.562 NLRP2 rs61735077 19:54982758:A:G 19 54982758 A G 19:55494126 0.950729 1148 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Examination and observation for other reasons 0.00047 0.5191 0.1484 0.0004338 173.599 49.337 NLRP2 rs62124644 19:54982773:T:C 19 54982773 T C 19:55494141 0.984418 2095 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bronchitis 0.000495 0.2451 0.0704 Iridocyclitis in diseases classified elsewhere 0.0009399 86.495 26.148 NLRP2 rs139903547 19:54982915:C:G 19 54982915 C G 19:55494283 0.976485 4279 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonalcoholic fatty liver disease 0.000221 1.03 0.2789 Kela-code for behavioural disturbances in mental retardation 0.00166 52.051 16.549 NLRP2 rs61735082 19:54983244:A:G 19 54983244 A G 19:55494612 0.990227 8481 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis, 0.000654 0.1992 0.0584 Nonspesific lymphadenitis 0.0008409 3.28 0.982 NLRP2 rs61735083 19:54983263:A:G 19 54983263 A G 19:55494631 0.993377 8482 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis, 0.000682 0.1977 0.0582 Other disorders of breast and lactation associated with childbirth 0.0009499 10.978 3.322 NLRP2 rs117066658 19:54990056:G:A 19 54990056 G A 19:55501424 0.989194 4382 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the ankle and foot 0.000513 -0.2407 0.0693 Acute appendicitis 0.001428 1.179 0.37 GP6 rs1671150 19:55014129:A:G 19 55014129 A G 19:55525497 0.999475 0.867497 276666 42042 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities 4.87e-06 0.1662 0.0364 DVT of lower extremities 4.313e-06 0.093 0.02 GP6 rs10418074 19:55014218:C:T 19 55014218 C T 19:55525586 0.997218 0.0594086 1298 20528 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Ill-defined and unknown causes of mortality 8.97e-05 0.6871 0.1754 Dermatitis herpetiformis 0.0006363 2.578 0.755 GP6 rs1654412 19:55014228:T:C 19 55014228 T C 19:55525596 0.999443 0.867494 276664 42043 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities 4.85e-06 0.1662 0.0364 DVT of lower extremities 4.292e-06 0.093 0.02 GP6 rs200566792 19:55014395:A:C 19 55014395 A C 19:55525763 0.98466 0.00205505 2 753 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcer of oesophagus 4.64e-05 2.8969 0.7112 GP6 rs41275822 19:55014450:C:T 19 55014450 C T 19:55525818 0.99955 13457 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Pyogenic granuloma 0.000268 1.1763 0.3228 Other and unspecified nerve root and plexus disorders, also in other diseases 6.534e-05 1.503 0.376 GP6 rs768134535 19:55014735:G:GCAGA 19 55014735 G GCAGA 19:55526103 0.99608 5086 LC recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Special screening examination for infectious and parasitic diseases 0.000225 0.3345 0.0907 0.0003556 6.802 1.905 GP6 rs1671152 19:55014977:T:G 19 55014977 T G 19:55526345 0.999089 0.881621 285778 38119 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities 5.1e-07 0.192 0.0382 DVT of lower extremities 2.896e-07 0.108 0.021 GP6 rs1654413 19:55014991:A:T 19 55014991 A T 19:55526359 0.999552 0.867489 276658 42047 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities 5.65e-06 0.165 0.0364 DVT of lower extremities 5.053e-06 0.092 0.02 GP6 rs2304166 19:55015005:G:C 19 55015005 G C 19:55526373 0.996926 0.620483 141374 86584 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of bladder (other cancers excluded from controls) 7.17e-05 -0.2002 0.0504 Other metabolic disorders 2.813e-06 -0.144 0.031 GP6 rs2304167 19:55015713:C:T 19 55015713 C T 19:55527081 0.999811 0.867453 276638 42054 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities 4.48e-06 0.1668 0.0363 DVT of lower extremities 3.888e-06 0.093 0.02 GP6 rs1654416 19:55018667:C:T 19 55018667 C T 19:55530035 0.999704 0.868006 276966 41929 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities 3.7e-06 0.1685 0.0364 DVT of lower extremities 4.17e-06 0.093 0.02 GP6 rs1613662 19:55025227:G:A 19 55025227 G A 19:55536595 0.999938 0.879095 284122 38847 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter DVT of lower extremities 1.34e-06 0.1828 0.0378 DVT of lower extremities 8.42e-07 0.103 0.021 TNNT1 rs67795913 19:55141929:A:C 19 55141929 A C 19:55653297 0.970236 41844 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes, wide definition 0.000345 -0.0781 0.0218 Vertical strabismus 0.0009076 0.791 0.238 TNNT1 rs112562759 19:55147019:T:C 19 55147019 T C 19:55658387 0.951981 33654 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;not provided;not specified Meniere disease 0.000106 0.2721 0.0702 Other congenital malformations of skin 0.00185 0.795 0.255 TNNI3 rs3729711 19:55156279:C:A 19 55156279 C A 19:55667647 0.98618 26759 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Ciliary dyskinesia;Hypertrophic cardiomyopathy;not specified Low back pain 0.000656 -0.0972 0.0285 Symptoms and signs involving the skin and subcutaneous tissue 0.000375 0.264 0.074 DNAAF3 rs200673226 19:55159099:G:A 19 55159099 G A 19:55670467 0.985932 262 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cystitis 0.000289 1.3282 0.3664 Abnormal findings on diagnostic imaging of central nervous system 0.0004642 164.797 47.077 DNAAF3 rs77322382 19:55159403:G:A 19 55159403 G A 19:55670771 0.891278 167 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified disorders involving the immune mechanism, not elsewhere classified 0.000668 11.241 3.3039 DNAAF3 rs890871 19:55160687:A:G 19 55160687 A G 19:55672055 0.998468 11730 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;not specified Combined immunodeficiencies 0.000898 1.1853 0.357 Benign neoplasm of other and unspecified sites (other cancers excluded from controls) 0.002742 3.393 1.133 DNAAF3 rs2365725 19:55161102:T:C 19 55161102 T C 19:55672470 0.994661 36470 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;Ciliary dyskinesia, primary, 2;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;not specified Other nutritional anaemias 0.000529 0.7667 0.2212 Malignant neoplasm of rectum 0.001942 0.488 0.157 DNAAF3 rs200775946 19:55161145:C:T 19 55161145 C T 19:55672513 0.985046 1747 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ciliary dyskinesia;not provided Coxarthrosis, 0.000437 0.4706 0.1338 Giant cell arteritis 0.0002522 274.979 75.131 DNAAF3 rs201937522 19:55161315:G:C 19 55161315 G C 19:55672683 0.854308 144 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of ankle and foot 0.00112 9.7835 3.003 DNAAF3 rs58824375 19:55161777:C:T 19 55161777 C T 19:55673145 0.998572 11756 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ciliary dyskinesia;Dilated Cardiomyopathy, Recessive;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Familial restrictive cardiomyopathy;Hypertrophic cardiomyopathy;not specified Benign neoplasm: Skin of eyelid, including canthus 0.000758 0.3253 0.0966 Benign neoplasm of other and unspecified sites (other cancers excluded from controls) 0.002747 3.391 1.132 DNAAF3 rs372945469 19:55162147:G:A 19 55162147 G A 19:55673515 0.903422 255 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin of lip 0.000552 12.6298 3.6562 HSPBP1 rs3040014 19:55279518:A:AGCCGCCGCC 19 55279518 A AGCCGCCGCC 19:55790886 0.992136 0.526533 101756 91686 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitamin B12 deficiency anaemia 8.18e-05 0.155 0.0393 Type 2 diabetes with peripheral circulatory complications 0.0004037 -0.144 0.041 NLRP9 rs148511077 19:55711948:G:A 19 55711948 G A 19:56223314 0.988021 2774 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervicobrachial syndrome 0.00143 0.5248 0.1646 Other specified/unspecified soft tissue disorders 0.0003299 16.281 4.534 NLRP9 rs73933317 19:55715091:G:A 19 55715091 G A 19:56226457 0.852256 1441 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of sclera, cornea, iris and ciliary body 0.00142 0.4478 0.1403 Diabetic ketoacidosis 4.211e-05 37.834 9.238 NLRP11 rs11671248 19:55785653:G:A 19 55785653 G A 19:56297019 0.963009 1429 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rheumatic fever incl heart disease 0.000344 2.2247 0.6215 Abdominal and pelvic pain 0.0001887 1.682 0.45 NLRP11 rs116820715 19:55785798:T:G 19 55785798 T G 19:56297164 0.990051 3697 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter !Aliquae complicationes praecoces traumatis 0.000625 1.3626 0.3984 Ovarian cyst 3.093e-06 2.702 0.579 NLRP4 rs111284755 19:55858672:G:A 19 55858672 G A 19:56370038 0.961924 656 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of other B group vitamins 0.00146 4.6376 1.4568 NLRP4 rs111526744 19:55877045:G:A 19 55877045 G A 19:56388411 0.996517 7288 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Male infertility 0.000494 0.8123 0.2332 Schizophrenia or delusion (more controls excluded) 0.0006965 1.62 0.478 NLRP8 rs199475839 19:55962177:C:CT 19 55962177 C CT 19:56473543 0.971699 272 pLoF unknown not provided not_provided no assertion provided none Siatica+with lumbago 0.000392 1.3287 0.3748 NLRP5 rs34165304 19:56004060:G:A 19 56004060 G A 19:56515426 0.982048 207 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Short bones of lower limb (other cancers excluded from controls) 0.00162 17.2796 5.4805 NLRP5 rs199475772 19:56027023:C:G 19 56027023 C G 19:56538389 0.987004 246 missense_variant unknown not provided not_provided no assertion provided none Other specific arthropathies 0.0015 8.4728 2.6683 NLRP5 rs45627733 19:56027075:C:T 19 56027075 C T 19:56538441 0.989325 509 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lower back pain or/and sciatica 0.000153 0.6543 0.1728 PEG3 rs56237501 19:56814177:G:C 19 56814177 G C 19:57325545 0.96226 267 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other inflammatory liver diseases 0.00172 3.9825 1.2702 PEG3 rs144150136 19:56817749:G:C 19 56817749 G C 19:57329117 0.971403 1385 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behavioural disorders due to tobacco 0.000385 1.6746 0.4717 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0 3.401 0 PEG3 rs142391687 19:56821692:C:T 19 56821692 C T 19:57333060 0.93087 266 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fistulae involving female genital tract 7e-04 11.1146 3.279 PEG3 rs149822437 19:56823647:C:T 19 56823647 C T 19:57335015 0.992524 1617 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chron's disease NAS 0.000255 1.6359 0.4473 Campylobacter enteritis 0.0008945 87.677 26.395 DUXA rs151293806 19:57154453:AG:A 19 57154453 AG A 19:57665821 0.969287 1949 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified and unspecified disorders of eye and adnexa 0.000378 1.7572 0.4943 Dissocial personality disorder 0.000335 211.242 58.897 AURKC rs58264281 19:57231121:C:T 19 57231121 C T 19:57742489 0.992971 35893 LC recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Otitis externa, unspecified 0.00251 -0.2269 0.0751 Otitis externa, unspecified 0.003129 -0.121 0.041 ZNF543 rs150392165 19:57326690:G:A 19 57326690 G A 19:57838058 0.991147 278 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other osteochondropathies 0.000247 4.1082 1.1209 ZNF419 rs2074077 19:57493563:A:G 19 57493563 A G 19:58004931 0.999323 71537 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ventral hernia 0.000236 -0.1142 0.0311 Ventral hernia 9.552e-05 -0.076 0.019 ZNF587 rs77577775 19:57859398:G:A 19 57859398 G A 19:58370766 0.904037 2410 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Proliferative diabetic retinopathy 0.000284 -0.4516 0.1244 Benign neoplasm: Connective and other soft tissue, unspecified (other cancers excluded from controls) 0.0003413 220.9 61.674 ZNF417 rs146519620 19:57916383:G:C 19 57916383 G C 19:58427751 0.984159 0.0133918 64 4856 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malaise and fatigue 5.57e-05 -0.3571 0.0886 Antepartum haemorrhage, not elsewhere classified 0.002246 6.988 2.287 SLC27A5 rs145618122 19:58498582:G:C 19 58498582 G C 19:59009949 0.909499 0.00246606 2 904 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic hepatitis NAS 5.7e-05 6.8452 1.7007 SLC27A5 rs147464959 19:58499543:A:G 19 58499543 A G 19:59010910 0.9307 1984 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Herpesviral keratitis and keratoconjunctivitis 0.000438 1.8479 0.5255 0.0004438 3.07 0.874 SLC27A5 rs149709084 19:58500660:C:T 19 58500660 C T 19:59012027 0.98165 311 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (Late onset) (more controls excluded) 0.000232 2.4029 0.6527 SLC27A5 rs34415062 19:58511799:G:A 19 58511799 G A 19:59023166 0.997001 53546 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presence of other devices 0.000249 -0.154 0.042 Antenatal screening 0.0002705 0.104 0.029 SLC27A5 rs35350976 19:58511807:A:G 19 58511807 A G 19:59023174 0.996815 53538 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presence of other devices 0.000228 -0.1552 0.0421 Antenatal screening 0.0003749 0.102 0.029 DEFB126 rs11467497 20:145514:GCAAA:G 20 145514 GCAAA G 20:126155 0.966453 37436 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services for examination and investigation 0.000571 0.0378 0.011 Crohn's disease of large intestine 2.027e-05 0.891 0.209 DEFB126 rs111739970 20:145669:ACC:A 20 145669 ACC A 20:126310 0.984762 91237 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postprocedural disorders of nervous system 0.00041 0.1781 0.0504 Ulcer of lower limb, not elsewhere classified 0.001035 -0.117 0.036 RBCK1 rs375018967 20:419417:C:T 20 419417 C T 20:400061 0.896139 288 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of gait and mobility 0.000451 3.6547 1.0418 RBCK1 rs143194967 20:422207:C:T 20 422207 C T 20:402851 0.904193 140 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Open wound of ankle and foot 0.000183 5.7064 1.5252 TBC1D20 rs36088178 20:447909:T:C 20 447909 T C 20:428553 0.989364 9515 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other and unspecified disorders of psychological development 0.000257 1.6292 0.4458 Convergence insufficiency and excess 0.0005419 14.195 4.104 SLC52A3 rs140360713 20:761055:C:A 20 761055 C A 20:741699 0.950607 147 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chorioretinal inflammation 0.000597 11.4273 3.3285 SLC52A3 rs3746802 20:763664:T:C 20 763664 T C 20:744308 0.994668 35666 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neuromuscular dysfuntion of bladder 0.000603 0.2587 0.0754 Other congenital malformations of ear 0.0001776 1.859 0.496 SLC52A3 rs3746803 20:763738:G:A 20 763738 G A 20:744382 0.994834 35669 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neuromuscular dysfuntion of bladder 0.00059 0.2591 0.0754 Other congenital malformations of ear 0.0001783 1.854 0.495 SLC52A3 rs3746804 20:763771:G:A 20 763771 G A 20:744415 0.995817 63119 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of stomach and duodenum 0.000205 0.2476 0.0667 Senile cataract 0.0002153 0.08 0.022 SLC52A3 rs35655964 20:765553:G:C 20 765553 G C 20:746197 0.996689 0.0812901 2500 27365 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Acute nephritic syndrome 2.04e-05 0.7183 0.1686 Oligomenorrhoea 6.858e-05 1.364 0.343 RSPO4 rs6140807 20:967266:C:T 20 967266 C T 20:947909 0.992781 844 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nasal polyp 0.000168 1.2175 0.3236 Presence of other devices 0.00034 11.726 3.273 RSPO4 rs74315420 20:968024:T:C 20 968024 T C 20:948667 0.813836 193 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Hereditary retinal dystrophy 0.000193 17.2815 4.6362 NSFL1C rs145945037 20:1452614:G:A 20 1452614 G A 20:1433259 0.97087 1945 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of Eustachian tube 0.000513 2.7155 0.7818 Other melanin hyperpigmentation 0.002182 42.483 13.864 SIRPA rs200179222 20:1922583:G:C 20 1922583 G C 20:1903229 0.880697 581 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of lower limb, including hip 0.00117 3.8577 1.1886 SIRPA rs41278990 20:1937497:C:T 20 1937497 C T 20:1918143 0.967747 2348 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intussusception 0.00123 2.5631 0.7932 Benign neoplasm: Skin of lip 0.00147 57.353 18.033 PDYN rs45469293 20:1980513:T:A 20 1980513 T A 20:1961159 0.9818 10296 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinocerebellar Ataxia, Dominant;not provided Other intracranial haemorrhages 0.000353 1.0806 0.3024 3.586e-05 0.658 0.159 PDYN rs77155664 20:1980652:T:G 20 1980652 T G 20:1961298 0.966641 4379 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinocerebellar Ataxia, Dominant;Spinocerebellar ataxia 23 Cholangitis (primary sclerosing, PSC) 0.00122 0.9601 0.2969 Mental retardation (more controls excluded) 0.0003346 16.862 4.701 TGM6 rs2076405 20:2394616:A:G 20 2394616 A G 20:2375262 0.986564 28028 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.00157 0.0781 0.0247 Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.0005381 0.046 0.013 TGM6 rs144338465 20:2403703:G:A 20 2403703 G A 20:2384349 0.991894 888 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinocerebellar Ataxia, Dominant;not specified Disorders of muscles 0.00104 1.552 0.4733 Bell's palsy 0.0001438 22.565 5.936 TGM6 rs147979536 20:2417237:C:T 20 2417237 C T 20:2397883 0.998167 11899 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinocerebellar Ataxia, Dominant Paralytic ileus 0.00238 0.607 0.1998 Unspecified acute lower respiratory infection 0.0004879 1.531 0.439 TGM6 rs140719871 20:2417418:G:A 20 2417418 G A 20:2398064 0.988825 874 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spinocerebellar Ataxia, Dominant Radiculopathy 0.00122 1.1162 0.3452 Spondylolisthesis/Spondylolysis 0 19.829 0 TGM6 rs557817405 20:2431011:G:GAAC 20 2431011 G GAAC 20:2411657 0.953172 431 inframe_indel dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Suppurative and necrotic conditions of lower respiratory tract 0.000875 3.9384 1.1835 SNRPB rs143603731 20:2462717:G:A 20 2462717 G A 20:2443363 0.985793 6784 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cauda equina syndrome 0.000861 1.8431 0.5531 Transient ischemic attack 0.0008214 1.506 0.45 NOP56 rs2273137 20:2654566:A:G 20 2654566 A G 20:2635212 0.998496 27749 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Melanocytic naevi of trunk (other cancers excluded from controls) 0.000187 0.3013 0.0807 Retinal detachments and breaks 0.0003501 0.353 0.099 NOP56 rs6753 20:2657933:T:C 20 2657933 T C 20:2638579 0.995667 0.255613 24412 69497 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Alcoholic liver disease 6.45e-05 -0.2023 0.0506 Other Chron's disease 0.001329 0.247 0.077 NOP56 rs5856 20:2658236:T:C 20 2658236 T C 20:2638882 0.994023 71350 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria Alcoholic liver disease 0.000142 -0.1904 0.05 Lichen simplex chronicus and prurigo 0.001301 0.258 0.08 IDH3B rs140155681 20:2658498:A:G 20 2658498 A G 20:2639144 0.992981 892 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Retinitis Pigmentosa, Recessive Type 1 diabetes with renal complications 0.000299 2.0531 0.5678 Degeneration of macula and posterior pole 0.0005235 9.511 2.742 ITPA rs1127354 20:3213196:C:A 20 3213196 C A 20:3193842 0.999335 20695 missense_variant recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Inosine triphosphatase deficiency;interferon alfa-2b, recombinant and ribavirin response - Dosage, Toxicity/ADR;peginterferon alfa-2b and ribavirin response - Toxicity/ADR Problems related to social environment 0.00187 0.5532 0.1778 Ulcerative colitis ( strict definition, all Crohn cases excluded) 0.0001874 0.853 0.228 SLC4A11 rs201613216 20:3229410:G:A 20 3229410 G A 20:3210056 0.992686 0.0032418 8 1183 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of oesophagus in diseases classified elsewhere 1.55e-06 6.7275 1.4002 Mouth breathing 0.0006892 10.247 3.019 SLC4A11 rs62208067 20:3229416:G:A 20 3229416 G A 20:3210062 0.955772 460 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obesity due to excess calories 0.00084 1.1392 0.3412 SLC4A11 rs144123179 20:3229544:G:C 20 3229544 G C 20:3210190 0.996119 734 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-rheumatic valve diseases 0.000203 0.7823 0.2106 Migraine, single triptan purchase ok & required. ICD-code if available is included 0 9.557 0 SLC4A11 rs147324566 20:3229562:C:T 20 3229562 C T 20:3210208 0.956757 2417 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Panniculitis, unspecified 0.00146 3.3642 1.057 Congenital malformations of uterus and cervix 0.00209 42.124 13.689 SLC4A11 rs201133609 20:3229631:C:T 20 3229631 C T 20:3210277 0.925601 705 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Neuralgia and neuritis, unspecified 0.0017 2.775 0.8845 SLC4A11 rs41281860 20:3229655:G:A 20 3229655 G A 20:3210301 0.990255 44450 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Tongue (other cancers excluded from controls) 0.000188 -0.4638 0.1242 Malignant neoplasm of testis (other cancers excluded from controls) 0.0002191 1.258 0.34 SLC4A11 rs138137682 20:3231200:G:A 20 3231200 G A 20:3211846 0.96474 0.000704977 2 257 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypothermia 6.83e-05 15.3337 3.8507 SLC4A11 rs149016022 20:3234091:C:T 20 3234091 C T 20:3214737 0.82144 139 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Asthma/COPD-related acute respiratory infections 0.00151 0.7599 0.2395 ADAM33 rs146576636 20:3668985:ATCTGGACT:A 20 3668985 ATCTGGACT A 20:3649632 0.98628 11512 LC unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral cysts 0.00059 0.6252 0.182 Tarsal tunnel syndrome 0.001912 7.939 2.558 ADAM33 rs3918394 20:3672848:G:A 20 3672848 G A 20:3653495 0.93568 0.00124936 0 459 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Meralgia paraesthetica 8.76e-06 7.7831 1.7507 PANK2 rs148036492 20:3889237:A:T 20 3889237 A T 20:3869884 0.993247 0.0170093 128 6121 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pigmentary pallidal degeneration;not provided Benign neoplasm of eye and adnexa 4.04e-05 0.8011 0.1952 Other acute viral hepatitis 0.000253 20.701 5.657 PANK2 rs71647828 20:3889432:T:A 20 3889432 T A 20:3870079 0.997838 27072 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pigmentary pallidal degeneration;not provided;not specified Other/unspecified reactive arthropathies 0.000466 0.3436 0.0982 Trigger finger 0.0003969 0.641 0.181 PANK2 rs3737084 20:3889477:G:C 20 3889477 G C 20:3870124 0.996105 39634 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.000201 -0.1002 0.027 Abnormal findings on diagnostic imaging and in function studies, without diagnosis 0.0002534 -0.054 0.015 PRNP rs112637437 20:4699448:CCATGGTGGTGGCTGGGGACAGCCT:C 20 4699448 CCATGGTGGTGGCTGGGGACAGCCT C 20:4680094 0.982835 2682 inframe_indel dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Genetic prion diseases;Huntington disease-like 1;not specified Benign neoplasm: Rectum, anus and anal canal 0.00055 0.72 0.2084 Other diseases of urinary system 0.0004791 2.331 0.667 PRNP rs1799990 20:4699605:A:G 20 4699605 A G 20:4680251 0.995491 78059 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deficiency of other B group vitamins 0.000765 0.3459 0.1028 Abnormal findings on examination of urine, without diagnosis 0.0006996 0.278 0.082 PRND rs35453518 20:4724718:C:T 20 4724718 C T 20:4705364 0.927371 0.0127957 76 4625 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of skin of other and unspecified parts of face (other cancers excluded from controls) 2.3e-05 1.2786 0.302 Benign neoplasm of ovary (other cancers excluded from controls) 0.0007142 5.821 1.72 PROKR2 rs200048973 20:5313994:C:T 20 5313994 C T 20:5294640 0.923173 316 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Benign neoplasms 0.000585 0.4914 0.1429 PROKR2 rs74315418 20:5314116:C:T 20 5314116 C T 20:5294762 0.949573 155 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Malignant neoplasm of oesophagus (other cancers excluded from controls) 0.000171 17.4039 4.6305 PROKR2 rs144994507 20:5314219:C:T 20 5314219 C T 20:5294865 0.973455 0.0193175 158 6939 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypogonadism with anosmia;Inborn genetic diseases Wide developmental disorders (more controls excluded) 9.99e-05 1.5429 0.3965 Hydatidiform mole 0.0002034 22.304 6.004 CHGB rs142841879 20:5923286:G:T 20 5923286 G T 20:5903932 0.981202 9468 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alogoneurodystrophy 0.000252 0.9474 0.2588 Nonorganic sleeping disorders 9.787e-06 2.556 0.578 MCM8 rs373319946 20:5973131:A:G 20 5973131 A G 20:5953777 0.930775 124 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dermatitis herpetiformis 0.000114 20.2237 5.2413 MCM8 rs61754763 20:5986117:A:G 20 5986117 A G 20:5966763 0.987408 1107 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other crystal arthropathies 0.000615 5.1843 1.5137 Benign neoplasm: Brain, supratentorial 0.0004058 180.271 50.977 FERMT1 rs2232078 20:6084158:C:T 20 6084158 C T 20:6064805 0.975048 0.00403388 6 1476 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Kindler's syndrome;not provided Symptoms and signs involving speech and voice 2.66e-05 0.8094 0.1927 Cyst of kidney 0.0007147 108.315 32.009 FERMT1 rs2232074 20:6085082:C:T 20 6085082 C T 20:6065729 0.995337 0.28358 30174 74010 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Cranial nerves (other cancers excluded from controls) 1.6e-05 -0.414 0.0959 Alcohol abuse, main dg 0.000336 0.155 0.043 FERMT1 rs62200482 20:6107618:G:A 20 6107618 G A 20:6088265 0.999636 24037 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kindler's syndrome Pulmonary eosinophilia, not elsewhere classified 0.00138 0.7321 0.2289 Wet age-related macular degeneration 0.0003738 0.737 0.207 FERMT1 rs55666319 20:6110322:A:G 20 6110322 A G 20:6090969 0.99814 7684 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kindler's syndrome ILD, hospital admission 2, with pulmonary infections 0.000161 0.6801 0.1802 Thyrotoxicosis with toxic multinodular goitre 0.00422 2.759 0.964 FERMT1 rs16991866 20:6112530:A:G 20 6112530 A G 20:6093177 0.994512 27786 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Kindler's syndrome Entropion and trichiasis of eyelid 0.000718 -0.3169 0.0937 Degeneration of macula and posterior pole 0.001378 0.299 0.094 FERMT1 rs138019177 20:6112542:T:C 20 6112542 T C 20:6093189 0.950906 0.00236535 0 869 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Speech and linguistic disorders (more controls excluded) 7.18e-05 2.488 0.6266 BMP2 rs2273073 20:6770235:T:G 20 6770235 T G 20:6750882 0.986154 3832 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Dermatitis due to ingested food 0.000119 1.8595 0.4832 Unspecified fall 0.002435 39.924 13.17 BMP2 rs140417301 20:6778291:A:T 20 6778291 A T 20:6758938 0.993937 0.00464359 4 1702 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hallux rigidus 5.44e-05 1.1155 0.2764 Medical abortion 1.725e-05 5.157 1.2 BMP2 rs235768 20:6778468:A:T 20 6778468 A T 20:6759115 0.993687 0.584189 125906 88718 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nontoxic multinodular goitre 1.52e-05 -0.1251 0.0289 Abnormal findings on antenatal screening of mother 8.992e-05 0.165 0.042 PLCB1 rs45608240 20:8717804:A:G 20 8717804 A G 20:8698451 0.983065 0.00156238 0 574 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of meninges (other cancers excluded from controls) 6.35e-05 4.3401 1.0852 PLCB1 rs28390202 20:8881748:C:T 20 8881748 C T 20:8862395 0.988211 818 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Early infantile epileptic encephalopathy 12;Seizures;not provided;not specified Hyperlipidaemia, other/unspecified 0.00128 0.8198 0.2545 Divergent concomitant strabismus 0.002349 38.549 12.672 PLCB1 rs138077430 20:8881841:C:T 20 8881841 C T 20:8862488 0.911768 86 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intussusception 0.000665 26.1047 7.6697 PLCB4 rs6077510 20:9307875:G:A 20 9307875 G A 20:9288522 0.982132 0.542865 108572 90870 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ischaemic Stroke, excluding all haemorrhages 8.12e-05 -0.0669 0.017 Other diseases of oesophagus 0.0001807 -0.122 0.033 PLCB4 rs142617224 20:9393628:A:G 20 9393628 A G 20:9374275 0.985718 1453 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Auriculocondylar syndrome Special screening examination for neoplasms 0.000175 2.1676 0.5777 0.0001455 2.969 0.782 PLCB4 rs148347249 20:9444221:C:A 20 9444221 C A 20:9424868 0.98278 0.00399033 24 1442 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Auriculocondylar syndrome Disturbances of skin sensation 3.9e-05 0.9508 0.2311 Transient global amnesia 0.0005761 12.212 3.547 MKKS rs1545 20:10405365:C:A 20 10405365 C A 20:10386013 0.999558 37196 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peroneal tendinitis 0.00138 0.6872 0.2149 Disorders of vestibular function (Vertigo) 0.0004391 -0.213 0.061 MKKS rs1547 20:10405411:G:A 20 10405411 G A 20:10386059 0.99956 37205 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Peroneal tendinitis 0.00138 0.6877 0.2149 Disorders of vestibular function (Vertigo) 0.0003284 -0.219 0.061 MKKS rs137853909 20:10408774:T:C 20 10408774 T C 20:10389422 0.994584 3079 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bardet-Biedl syndrome;Bardet-Biedl syndrome 6;McKusick Kaufman syndrome;McKusick Kaufman syndrome;not provided;not specified Symptoms and signs concerning food and fluid intake 0.000293 0.9339 0.2579 Congenital malformations and deformations of the musculoskeletal system 0.001175 8.763 2.701 MKKS rs74315394 20:10412791:C:A 20 10412791 C A 20:10393439 0.994737 1885 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bardet-Biedl syndrome;McKusick Kaufman syndrome;McKusick Kaufman syndrome;not provided;not specified Femoral hernia, unilateral 0.000468 2.3036 0.6585 0.0006664 11.667 3.428 JAG1 rs145895196 20:10641566:C:T 20 10641566 C T 20:10622214 0.968624 136 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of gallbladder, biliary tract and pancreas 0.00021 1.1956 0.3226 JAG1 rs35761929 20:10641853:G:C 20 10641853 G C 20:10622501 0.984347 29095 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arteriohepatic dysplasia;Cardiovascular phenotype;not specified Type 1 diabetes with other specified/multiple/unspecified complications 0.000303 0.1875 0.0519 Degenerative macular diseases 5.72e-05 0.733 0.182 JAG1 rs200227737 20:10651658:C:T 20 10651658 C T 20:10632306 0.991147 546 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Infective bursitis 0.000209 5.202 1.4032 ESF1 rs1054972446 20:13714909:GCT:G 20 13714909 GCT G 20:13695556 0.980493 1017 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alergic contact dermatitis 0.000912 1.1885 0.3584 Abnormalities of breathing 0 4.188 0 FLRT3 rs8120693 20:14326378:C:T 20 14326378 C T 20:14307024 0.997071 4167 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Ingrowing nail 0.00111 0.9127 0.28 0.0006352 -5.421 1.587 OTOR rs17686437 20:16748403:T:C 20 16748403 T C 20:16729048 0.994664 17704 start_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Cholelithiasis 0.000236 -0.1116 0.0304 Other/unspecified synovitis and tenosynovitis 0.0004919 0.976 0.28 BFSP1 rs548358901 20:17494075:TAA:T 20 17494075 TAA T 20:17474720 0.993559 4592 LC both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cataract 33, multiple types;Congenital ocular coloboma Carcinoma in situ of skin of upper limb, including shoulder (other cancers excluded from controls) 0.00013 2.7516 0.719 Other disorders of pigmentation 0.001082 10.315 3.156 BFSP1 rs6080719 20:17496947:C:T 20 17496947 C T 20:17477592 0.993697 64458 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of neck 0.000319 0.4522 0.1256 Meniere disease 0.001197 0.216 0.067 BFSP1 rs142996076 20:17498889:G:A 20 17498889 G A 20:17479534 0.971873 279 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other female pelvic inflammatory diseases 0.000457 2.187 0.624 RRBP1 rs61737094 20:17615937:C:T 20 17615937 C T 20:17596582 0.92256 262 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Weight loss 0.000326 4.6378 1.2906 RRBP1 rs45479602 20:17629867:C:T 20 17629867 C T 20:17610512 0.974182 3762 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular dementia (subcortical) 0.000928 1.814 0.5478 Scar conditions and fibrosis of skin 0.0003804 16.614 4.676 RRBP1 rs143378274 20:17643125:G:A 20 17643125 G A 20:17623770 0.974714 189 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atypical mycobacterium lung infection 0.00114 20.4418 6.2832 MGME1 rs11551768 20:17969902:A:T 20 17969902 A T 20:17950545 0.992317 25684 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided;not specified Vasomotor and allergic rhinitis 0.000339 0.1335 0.0372 Type 1 diabetes, wide definition 0.001087 -0.313 0.096 MGME1 rs143417446 20:17975704:C:T 20 17975704 C T 20:17956347 0.932489 5009 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Mitochondrial DNA depletion syndrome 11;not provided Other and unspecified acne 0.000391 2.3943 0.6751 Generalized epilepsy 0.0001857 6.733 1.801 MGME1 rs76599088 20:17988228:C:T 20 17988228 C T 20:17968871 0.984534 2093 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Benign neoplasm: Connective and other soft tissue of lower limb, including hip (other cancers excluded from controls) 0.000155 2.688 0.7105 Counselling related to sexual attitude, behaviour and orientation 0.001026 79.814 24.31 SEC23B rs36023150 20:18524556:G:T 20 18524556 G T 20:18505200 0.998105 2878 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital dyserythropoietic anemia;Congenital dyserythropoietic anemia, type II;Cowden syndrome 7;Cowden syndrome 7;not specified Chronic conjunctivitis 0.000181 2.0505 0.5478 Foreign body in respiratory tract 0.0006106 13.473 3.932 SEC23B rs146917730 20:18525868:C:T 20 18525868 C T 20:18506512 0.990982 6099 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dislocation, sprain and strain of joint and ligaments of hip 0.000831 1.1536 0.3451 Other disorders of choroid 0.0003687 17.229 4.838 SEC23B rs142461689 20:18530768:T:C 20 18530768 T C 20:18511412 0.998324 1376 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other anxiety disorders 0.000639 0.5386 0.1577 SEC23B rs41309927 20:18532706:G:A 20 18532706 G A 20:18513350 0.994047 24319 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital dyserythropoietic anemia;not specified Vestibular neuronitis 0.000591 0.3093 0.09 Maternal care for other conditions predominantly related to pregnancy 0.0001621 0.586 0.155 SEC23B rs17807673 20:18532728:C:T 20 18532728 C T 20:18513372 0.996802 54128 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral palsy 0.00067 0.4308 0.1267 Malignant neoplasm of brain 0.0001213 0.625 0.163 SEC23B rs2273526 20:18542358:C:G 20 18542358 C G 20:18523002 0.999455 41124 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of penis 0.00239 0.2063 0.0679 Anisometropia and aniseikonia 0.0002026 1.002 0.27 RIN2 rs183028833 20:19886740:C:T 20 19886740 C T 20:19867384 0.912813 867 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Divergent concomitant strabismus 0.000149 2.2008 0.5802 Localized swelling, mass and lump of skin and subcutaneous tissue 0.0002394 15.286 4.161 RIN2 rs78648341 20:19935126:G:A 20 19935126 G A 20:19915770 0.963749 0.0374835 528 13243 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Procedures for purposes other than remedying health state 5.81e-05 0.9134 0.2272 Nonischemic cardiomyopathy 0.0004371 2.532 0.72 RIN2 rs142502440 20:19956668:G:A 20 19956668 G A 20:19937312 0.989513 28695 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Hidradenitis suppurativa 0.000105 0.5902 0.1522 Open wound of wrist and hand 1.638e-05 0.371 0.086 RIN2 rs45488002 20:19960775:C:T 20 19960775 C T 20:19941419 0.950876 4617 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Generalized anxiety disorder 0.000716 0.5725 0.1692 Hyphaema and other vascular disorders of iris and ciliary body 5.383e-05 40.135 9.939 RIN2 rs3803981 20:19970890:T:A 20 19970890 T A 20:19951534 0.991937 42018 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of male genital organs 0.000236 0.0688 0.0187 Diabetes, several complications 0.001572 0.185 0.059 RIN2 rs199954296 20:19975166:C:T 20 19975166 C T 20:19955810 0.972202 2802 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Acute gastritis 0.000443 0.9629 0.2741 Other bullous disorders 0.001742 52.083 16.635 RIN2 rs368984007 20:20000646:A:T 20 20000646 A T 20:19981290 0.809837 143 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Colorectal cancer 0.00198 2.3113 0.7473 RIN2 rs183141566 20:20000749:A:T 20 20000749 A T 20:19981393 0.925663 147 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Intestinal infectious diseases 0.000842 1.0309 0.3088 RIN2 rs202076384 20:20000875:T:C 20 20000875 T C 20:19981519 0.963434 426 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Injury of intra-abdominal organs 0.000183 6.993 1.8694 XRN2 rs143317904 20:21333776:G:A 20 21333776 G A 20:21314414 0.994855 0.010659 68 3848 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lesion of plantar nerve 6.16e-05 1.0572 0.2639 Nausea and vomiting 0.001494 2.638 0.831 PAX1 rs138641387 20:21714718:C:T 20 21714718 C T 20:21695356 0.965402 969 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Other specified and unspecified retinal disorders 0.00042 3.7014 1.0494 Obesity related asthma 1.066e-06 10.172 2.085 THBD rs1800579 20:23048003:G:A 20 23048003 G A 20:23028640 0.98972 619 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Atypical hemolytic uremic syndrome Tobacco use 0.000748 4.9724 1.4749 Noninfective enteritis and colitis 0.0007635 9.586 2.848 THBD rs1042579 20:23048087:G:A 20 23048087 G A 20:23028724 0.999114 73188 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular diseases of the intestine 0.000492 -0.3166 0.0908 Benign neoplasm: Tongue 0.0003853 0.414 0.117 THBD rs375011249 20:23048822:G:A 20 23048822 G A 20:23029459 0.824976 139 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Effects of other external causes 0.000266 14.8637 4.0759 GZF1 rs3810574 20:23364952:A:G 20 23364952 A G 20:23345589 0.999676 0.0104522 38 3802 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otitis externa, unspecified 3.87e-05 1.0236 0.2487 Other infective otitis externa 0.0004664 14.541 4.155 NAPB rs140977227 20:23421338:T:C 20 23421338 T C 20:23401975 0.823359 0.000522608 4 188 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of eye, brain and central nervous system 6.41e-05 5.4699 1.3684 Type 2 diabetes 0 3.17 0 CST3 rs1064039 20:23637790:C:T 20 23637790 C T 20:23618427 0.999271 63128 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting no assertion criteria provided no_Criteria Retention of urine 0.000375 0.1038 0.0292 Astigmatism 0.0002902 0.402 0.111 VSX1 rs148957473 20:25077762:T:C 20 25077762 T C 20:25058398 0.942844 455 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dissociative [conversion] disorders 0.00034 4.5945 1.2823 VSX1 rs74315433 20:25079460:C:T 20 25079460 C T 20:25060096 0.963954 878 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Personal history of certain other diseases 0.00022 6.666 1.8043 VSX1 rs140122268 20:25079507:G:C 20 25079507 G C 20:25060143 0.995852 1137 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Posterior Polymorphous Corneal Dystrophy Respiratory distress of newborn 0.00224 5.0698 1.6585 Non-allergic asthma 4.549e-05 12.327 3.023 VSX1 rs369865672 20:25081924:G:A 20 25081924 G A 20:25062560 0.8936 169 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Psoriasis (vulgaris), strict definition 0.000415 13.0544 3.698 VSX1 rs192303122 20:25082095:A:T 20 25082095 A T 20:25062731 0.982834 1350 start_lost dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other dorsopathies, not elsewhere classified 0.00109 -0.2548 0.078 Other specific arthropathies 0.001688 53.965 17.184 PYGB rs146966138 20:25248348:C:G 20 25248348 C G 20:25228984 0.908529 100 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of arteries, arterioles and capillaries 0.000477 2.2911 0.6558 ABHD12 rs746748 20:25302331:C:T 20 25302331 C T 20:25282967 0.997015 13268 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;not specified Premature rupture of membranes 0.000821 0.2814 0.0841 malignant neoplasm of male genital organs (other cancers excluded from controls) 0.001583 0.636 0.201 GINS1 rs137901350 20:25418112:C:T 20 25418112 C T 20:25398748 0.993073 1310 missense_variant recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Moderate visual impairment, binocular 0.00017 3.0329 0.8065 COX4I2 rs148327783 20:31639938:G:C 20 31639938 G C 20:30227741 0.933289 273 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Background diabetic retinopathy 0.000342 2.5529 0.7128 COX4I2 rs11907253 20:31644870:G:A 20 31644870 G A 20:30232673 0.996086 23994 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis;not provided;not specified Benign neoplasm: Short bones of lower limb 0.000175 1.1098 0.2957 Post-traumatic wound infection, not elsewhere classified 0.0003348 2.351 0.655 MYLK2 rs117502839 20:31819584:G:A 20 31819584 G A 20:30407387 0.991938 319 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Emotional disorders and disorders of social functioning with onset specific to childhood 0.000902 3.5324 1.0642 MYLK2 rs34396614 20:31820503:C:G 20 31820503 C G 20:30408306 0.968132 3106 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cardiomyopathy;Familial hypertrophic cardiomyopathy 1;Hypertrophic cardiomyopathy;not specified Other extrapyramidal and movement disorders+ in other diseases 0.000518 0.6956 0.2004 Disorders of iron metabolism 0.000605 125.037 36.46 MYLK2 rs142620954 20:31823495:C:T 20 31823495 C T 20:30411298 0.996856 6006 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial hypertrophic cardiomyopathy 1;not specified severe traumatic brain injury, does not include concussion 0.00043 0.4127 0.1172 Other disorders of kidney and ureter 0.0003759 4.056 1.14 MYLK2 rs587782968 20:31824282:C:A 20 31824282 C A 20:30412085 0.925036 870 missense_variant dominant Uncertain significance VUS no assertion criteria provided no_Criteria Fabry disease Benign neoplasm: Caecum (other cancers excluded from controls) 0.000112 2.7557 0.7135 7.361e-06 2.213 0.494 POFUT1 rs17268666 20:32231047:C:T 20 32231047 C T 20:30818850 0.996088 16920 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dowling-Degos disease 2 Atypical mycobacterium lung infection 0.000213 1.348 0.364 Primary angle-closure glaucoma 5.357e-05 2.733 0.676 ASXL1 rs3746609 20:32434666:G:A 20 32434666 G A 20:31022469 0.994961 3331 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter C-like syndrome;not specified Diabetic polyneuropathy 0.000811 1.7321 0.5172 Endocrine, nutritional and metabolic diseases 0.001588 -0.998 0.316 ASXL1 rs145132837 20:32435669:A:G 20 32435669 A G 20:31023472 0.957202 0.000391956 0 144 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis of ovary 3.76e-05 4.5062 1.0933 ASXL1 rs139115934 20:32436018:G:T 20 32436018 G T 20:31023821 0.995742 10398 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter C-like syndrome;not specified Melanocytic naevi of scalp and neck 0.000893 0.9179 0.2763 Other demyelinating diseases of the central nervous system 0.001486 4.253 1.338 ASXL1 rs146141075 20:32436457:A:G 20 32436457 A G 20:31024260 0.993162 3441 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter C-like syndrome;not specified Other complications of surgical and medical care, not elsewhere classified 0.000292 1.0137 0.2798 Degenerative macular diseases 0.002919 5.628 1.891 ASXL1 rs148144203 20:32436647:C:T 20 32436647 C T 20:31024450 0.987128 264 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Glomerular diseases 0.000249 1.9626 0.5358 ASXL1 rs150004862 20:32436895:C:G 20 32436895 C G 20:31024698 0.958168 0.0020986 2 769 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coeliac disease 3.2e-05 2.0938 0.5035 DNMT3B rs150682895 20:32795432:G:A 20 32795432 G A 20:31383238 0.998815 4299 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency Infections of breast associated with childbirth 0.000523 1.464 0.4221 Benign neoplasm: Spinal cord (other cancers excluded from controls) 8.028e-05 34.69 8.797 SNTA1 rs369968387 20:33410267:G:A 20 33410267 G A 20:31998073 0.841336 540 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Portal vein thrombosis 0.00174 8.9815 2.8679 SNTA1 rs150576530 20:33412697:C:A 20 33412697 C A 20:32000503 0.989962 0.00126569 0 465 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to certain psychosocial circumstances 2.89e-05 3.0548 0.7304 SNTA1 rs200316080 20:33412700:T:G 20 33412700 T G 20:32000506 0.939797 0.0011051 0 406 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of kidney and ureter 1.85e-05 3.5782 0.8356 SNTA1 rs75025585 20:33439020:C:T 20 33439020 C T 20:32026826 0.998888 2758 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Long QT syndrome;Romano-Ward syndrome;not provided;not specified Dyspnoea 0.0011 0.2478 0.076 Colitis, primary sclerosing, strict definition 0.0005156 152.458 43.904 E2F1 rs145741678 20:33680374:C:T 20 33680374 C T 20:32268180 0.974195 513 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothermia 0.00048 7.7777 2.2276 AHCY rs41301825 20:34292436:C:T 20 34292436 C T 20:32880242 0.948213 488 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Chalazion 0.0021 1.9223 0.6249 Pain in throat and chest 0.0005638 3.474 1.008 AHCY rs11552695 20:34294102:T:C 20 34294102 T C 20:32881908 0.990829 4395 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Coxarthrosis, 0.000261 -0.3056 0.0837 Mucosal proctocolitis 2.47e-05 7.475 1.772 AHCY rs13043752 20:34295502:G:A 20 34295502 G A 20:32883308 0.969851 3415 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency Persistent mood disorders 0.000585 -0.4922 0.1431 Injury of nerves at lower leg level 0.001118 71.083 21.812 NCOA6 rs146148388 20:34758892:G:A 20 34758892 G A 20:33346695 0.989396 1056 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of other internal prosthetic devices, implants and grafts 0.000407 3.7407 1.0579 Unspecified fall 0.0002415 261.984 71.363 NCOA6 rs111988360 20:34782202:A:G 20 34782202 A G 20:33370005 0.965103 2481 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of ankle and foot 0.00492 0.766 0.2724 4.679e-05 -1.412 0.347 GSS rs150141794 20:34929449:C:T 20 34929449 C T 20:33517252 0.98592 861 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Gluthathione synthetase deficiency;not provided Abnormal findings on diagnostic imaging of other body structures 0.00253 1.621 0.5369 Statin medication 0 1.858 0 MYH7B rs200924846 20:34986970:A:G 20 34986970 A G 20:33574773 0.952357 775 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified intracranial injuries 0.000341 4.682 1.3072 MYH7B rs45522831 20:34987631:C:T 20 34987631 C T 20:33575434 0.97464 0.00396311 10 1446 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other congenital malformations of ear 9.5e-07 7.3455 1.4986 Problems related to housing and economic circumstances 0.0002916 216.795 59.844 MYH7B rs754511 20:34987874:T:A 20 34987874 T A 20:33575677 0.925035 1041 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 0.000912 -0.3176 0.0958 MYH7B rs187028260 20:34993377:G:A 20 34993377 G A 20:33581180 0.97773 2833 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cushing syndrome 0.00195 2.6446 0.8539 Melanocytic naevi of upper limb, including shoulder 0.002304 39.278 12.887 MYH7B rs200371401 20:34994330:C:T 20 34994330 C T 20:33582133 0.996041 694 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Tuberculosis 0.000198 2.3462 0.6304 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0 3.308 0 MYH7B rs61746253 20:35000382:A:T 20 35000382 A T 20:33588185 0.953097 845 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital deformities of feet 0.000379 4.5855 1.2902 MYH7B rs200207301 20:35000460:C:G 20 35000460 C G 20:33588263 0.973986 421 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Other and unspecified diseases of blood and blood-forming organs 0.000549 7.5874 2.1956 0 2.546 0 MYH7B rs114205213 20:35001284:A:C 20 35001284 A C 20:33589087 0.972589 4396 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified psoriasis 0.00074 0.9565 0.2835 Hirsutism 9.024e-05 31.352 8.007 CEP250 rs140439099 20:35490691:G:A 20 35490691 G A 20:34078517 0.985865 0.00309754 6 1132 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emphysema 2.95e-05 3.104 0.7431 Retinoschisis and retinal cysts 0.0006941 112.563 33.186 CEP250 rs41290926 20:35504343:C:T 20 35504343 C T 20:34092171 0.989885 1348 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing hyperostosis [Forestier] 0.00165 4.0468 1.286 Carcinoma in situ of skin of lower limb, including hip 0.0004272 173.316 49.2 CEP250 rs61729988 20:35504385:G:A 20 35504385 G A 20:34092213 0.98153 0.00318737 6 1165 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emphysema 4.01e-05 2.977 0.7249 Retinoschisis and retinal cysts 0.0006941 112.563 33.186 CEP250 rs114001563 20:35508979:A:G 20 35508979 A G 20:34096808 0.9721 3408 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyarthropathies 0.000187 0.2897 0.0775 Other diseases of arteries and capillaries 0.0001856 8.029 2.148 RBM12 rs150406619 20:35653359:G:A 20 35653359 G A 20:34241281 0.983189 561 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ocular pain 0.00225 2.5506 0.8347 EPB41L1 rs6089016 20:36198013:C:G 20 36198013 C G 20:34785935 0.955206 2180 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Benign neoplasm: Spinal cord 0.000241 3.5137 0.9569 Varus deformity, not elsewhere classified 0.001107 77.384 23.725 EPB41L1 rs144426436 20:36198016:A:G 20 36198016 A G 20:34785938 0.995237 3872 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Convulsions, not elsewhere classified 0.000157 -0.4574 0.121 Hernia of abodminal wall, postoperative 0.0001322 8.771 2.295 EPB41L1 rs73101499 20:36209879:C:T 20 36209879 C T 20:34797801 0.992048 4671 missense_variant dominant Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Malignant neoplasm of larynx (other cancers excluded from controls) 0.00204 1.8425 0.5974 0.0002971 2.155 0.596 EPB41L1 rs199993775 20:36218939:A:G 20 36218939 A G 20:34806861 0.997063 1534 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Third [oculomotor] nerve palsy 0.000242 4.1512 1.131 Protozoal diseases 0.0004184 181.284 51.381 AAR2 rs141340897 20:36255683:G:A 20 36255683 G A 20:34843605 0.973465 0.00295056 4 1080 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebral palsy and other paralytic syndromes 5.5e-05 1.5752 0.3905 Peripheral retinal degeneration 0.0007256 107.569 31.828 TLDC2 rs3748460 20:36879155:G:A 20 36879155 G A 20:35507558 0.991485 8168 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sixth [abducent] nerve palsy 0.00158 0.9227 0.292 Nausea and vomiting 0.0001777 1.821 0.486 TLDC2 rs138927042 20:36892861:G:T 20 36892861 G T 20:35521264 0.970445 263 LC unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathies in other diseases classified elsewhere 0.00145 5.6183 1.7641 TGM2 rs2229473 20:38132492:C:A 20 38132492 C A 20:36760894 0.99031 0.00148072 4 540 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral hepatitis, IBD co-morbidity 9.51e-05 3.4676 0.8885 Benign neoplasm: Sigmoid colon 0.004112 24.042 8.379 TGM2 rs41274720 20:38156053:C:T 20 38156053 C T 20:36784455 0.985794 4293 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes without complications 0.000435 -0.2582 0.0734 Chondrocostal junction syndrome [Tietze] 0.0001777 23.957 6.391 BPI rs5743497 20:38304245:G:A 20 38304245 G A 20:36932647 0.865375 604 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of upper limb, including shoulder 0.000488 6.595 1.8912 BPI rs1341023 20:38304258:C:T 20 38304258 C T 20:36932660 0.985213 90451 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathies in other diseases classified elsewhere 0.000627 -0.2566 0.075 Acute peritonitis 0.001823 -0.153 0.049 BPI rs5743509 20:38311912:C:T 20 38311912 C T 20:36940314 0.996865 0.0292878 362 10398 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Endometriosis 8.68e-05 -0.2272 0.0579 Nontoxic multinodular goitre 0.0001369 1.333 0.35 BPI rs4358188 20:38318446:G:A 20 38318446 G A 20:36946848 0.998617 90466 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathies in other diseases classified elsewhere 0.00106 0.245 0.0748 AV-block 0.001865 -0.085 0.027 BPI rs137967923 20:38326268:G:A 20 38326268 G A 20:36954670 0.957866 778 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertrophic scar 0.00047 2.7675 0.7913 Interstitial lung disease endpoints 0 5.752 0 LBP rs2232585 20:38354288:C:A 20 38354288 C A 20:36982688 0.956237 2039 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of spinal cord, cranial nerves and other parts of central nervous system (other cancers excluded from controls) 0.000329 3.3572 0.9348 Retention of urine 0.001884 6.17 1.985 LBP rs2232597 20:38360737:G:A 20 38360737 G A 20:36989391 0.970051 1597 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of urethra and urinary system 0.000795 -0.3651 0.1088 Other other unspecified disorders of the circulatory system 0.0004662 141.545 40.447 LBP rs138894985 20:38360756:A:G 20 38360756 A G 20:36989410 0.971153 331 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 0.00029 -0.5899 0.1628 LBP rs2232613 20:38369011:C:T 20 38369011 C T 20:36997655 0.997839 43027 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Viral infections characterized by skin and mucous membrane lesions 0.000608 0.1133 0.033 Other malignant neoplasms of skin (=non-melanoma skin cancer) 5.423e-05 0.177 0.044 LBP rs5744212 20:38369028:C:T 20 38369028 C T 20:36997672 0.990335 386 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Astigmatism 0.000173 5.425 1.4443 TOP1 rs61756255 20:41076256:C:T 20 41076256 C T 20:39704896 0.991636 1118 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other soft tissue disorders, not elsewhere classified 0.00322 0.3537 0.1201 LPIN3 rs75620173 20:41345862:G:A 20 41345862 G A 20:39974502 0.981853 4642 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mental and behauvioural disorders associated with the puerperium 0.000317 2.1801 0.6054 Dissection of aorta 0.0008448 10.851 3.251 LPIN3 rs74573862 20:41354732:G:A 20 41354732 G A 20:39983372 0.979215 0.00104249 0 383 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unsepcified mononeuropathies, also in other diseases 2.71e-05 7.8688 1.875 CHD6 rs61752057 20:41412230:G:A 20 41412230 G A 20:40040870 0.990623 4677 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Disorders of brain, other and unspecified 0.000452 2.5214 0.7188 8.841e-06 2.262 0.509 PTPRT rs41310016 20:42115305:A:G 20 42115305 A G 20:40743945 0.990537 0.0132421 82 4783 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hemiplegia 5.45e-06 1.2382 0.2723 Follicular cysts of skin and subcutaneous tissue 0.000622 3.461 1.011 L3MBTL1 rs145435727 20:43515296:G:A 20 43515296 G A 20:42143936 0.97337 3045 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lumbosacral root disorders, not elsewhere classified 0.000102 2.8358 0.73 Decubitus ulcer and pressure area 0.0001419 24.806 6.52 IFT52 rs148727335 20:43623966:G:A 20 43623966 G A 20:42252606 0.981516 0.00499472 16 1819 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of external ear 7.98e-05 0.6942 0.176 Nonorganic sleeping disorders (more controls excluded) 0.0002977 17.734 4.903 MYBL2 rs6017146 20:43702560:A:G 20 43702560 A G 20:42331200 0.976538 142 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alcohol abuse, main dg 0.000284 3.4826 0.9596 TOX2 rs41279272 20:44051315:A:G 20 44051315 A G 20:42679955 0.962857 594 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter KRA_PSY_EATING 0.0011 2.2743 0.6969 JPH2 rs140740776 20:44116162:C:T 20 44116162 C T 20:42744802 0.986901 4176 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Familial hypertrophic cardiomyopathy 17;Hypertrophic cardiomyopathy;not specified Benign neoplasm: Caecum (other cancers excluded from controls) 0.000122 1.0643 0.277 Benign neoplasm of colon, rectum, anus and anal canal (other cancers excluded from controls) 4.619e-05 3.133 0.769 JPH2 rs199896820 20:44118511:G:A 20 44118511 G A 20:42747151 0.978739 222 pLoF dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chromosomal abnormalities, not elsewhere classified 0.000147 18.6784 4.9206 JPH2 rs3810510 20:44118607:C:T 20 44118607 C T 20:42747247 0.998646 33644 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mild mental retardation 0.000338 -0.4385 0.1223 Other symptoms and signs involving the nervous and musculoskeletal systems 0.003349 0.222 0.076 JPH2 rs730880254 20:44160222:C:T 20 44160222 C T 20:42788862 0.969807 3240 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathy Psoriatic arthropathies 0.000131 0.9829 0.257 Thyrotoxicosis with toxic multinodular goitre 0.0002099 19.517 5.265 HNF4A rs41282026 20:44406092:G:A 20 44406092 G A 20:43034732 0.93621 295 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bullous pemphigoid 0.00034 14.2832 3.9865 HNF4A rs736823 20:44406143:C:T 20 44406143 C T 20:43034783 0.981482 15953 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperinsulinism, Dominant;Maturity onset diabetes mellitus in young;not provided;not specified Other nutritional anaemias 0.000109 1.4128 0.3651 Disorders of iron metabolism 0.0003609 6.852 1.921 HNF4A rs1800961 20:44413724:C:T 20 44413724 C T 20:43042364 0.995363 0.0450614 752 15803 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperinsulinism, Dominant;Maturity onset diabetes mellitus in young;Monogenic diabetes;not specified Cholelithiasis 1.27e-30 0.3783 0.0329 Open wound of hip and thigh 0.0002302 3.302 0.896 ADA rs11555566 20:44626579:T:C 20 44626579 T C 20:43255220 0.996853 15737 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Severe combined immunodeficiency due to ADA deficiency;not specified Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 0.000553 -0.2169 0.0628 Diaphragmatic hernia 0.0003166 0.694 0.193 ADA rs73598374 20:44651586:C:T 20 44651586 C T 20:43280227 0.976251 0.065356 1542 22469 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Adenosine deaminase 2 allozyme;Severe combined immunodeficiency due to ADA deficiency;not specified Atypical mycobacterium lung infection 8.57e-05 1.2411 0.316 Intracranial injury 0.001183 0.308 0.095 STK4 rs140089638 20:45001263:A:G 20 45001263 A G 20:43629904 0.997912 2211 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nerve, nerve root and plexus disorders 0.000211 -0.2825 0.0762 Fourth [trochlear] nerve palsy 0.001375 64.767 20.241 STK4 rs33963346 20:45025072:C:T 20 45025072 C T 20:43653713 0.939522 1509 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations Other crystal arthropathies 0.000515 4.8706 1.4024 Hypo-osmolality and hyponatraemia 0.0002148 15.102 4.081 KCNS1 rs144534326 20:45095055:G:A 20 45095055 G A 20:43723696 0.979315 300 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Osteoporosis 0.000683 1.7792 0.5239 PIGT rs141420243 20:45418853:G:T 20 45418853 G T 20:44047493 0.993598 650 start_lost both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Larynx 0.000185 5.3836 1.4399 PIGT rs61753669 20:45420332:A:C 20 45420332 A C 20:44048972 0.982776 7946 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Unspecified chronic bronchitis 0.000293 0.9653 0.2666 Malignant neoplasm of testis 2.16e-05 17.087 4.023 CTSA rs142892564 20:45894833:G:A 20 45894833 G A 20:44523472 0.947796 435 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other otitis externa (chronic) 0.000661 3.4005 0.9986 ZNF335 rs41280276 20:45953796:G:T 20 45953796 G T 20:44582435 0.992888 12280 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Disorders of oesophagus in diseases classified elsewhere 0.000742 1.0932 0.3241 Torticollis 0.0006012 4.941 1.44 ZNF335 rs41305805 20:45959287:A:C 20 45959287 A C 20:44587926 0.992275 10726 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria not specified Temporal arteritis 0.000331 0.9093 0.2533 Conjunctivitis 0.001221 0.552 0.171 ZNF335 rs117132825 20:45960265:G:A 20 45960265 G A 20:44588904 0.987176 1375 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Other disorders of bladder 0.000523 1.2671 0.3653 Diseases of the musculoskeletal system and connective tissue 9.414e-05 1.462 0.374 ZNF335 rs6032606 20:45967568:C:G 20 45967568 C G 20:44596207 0.9964 27343 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria Benign paroxysmal vertigo 0.00138 -0.1575 0.0493 Tic disorders (more controls excluded) 0.001547 -0.392 0.124 ZNF335 rs117802609 20:45967623:C:T 20 45967623 C T 20:44596262 0.954953 726 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Tuberculosis 0.000168 2.5422 0.6756 Congenital malformations of aortic and mitral valves 0.0008297 93.896 28.09 MMP9 rs1805088 20:46008985:C:T 20 46008985 C T 20:44637624 0.993592 6538 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Metaphyseal anadysplasia Alzheimer's disease (Early onset) 0.00136 0.8025 0.2506 Mental and behavioural disorders due to multiple drug use and use of multiple drugs and use of other psycoactive substances 8.734e-05 4.49 1.145 MMP9 rs144023823 20:46008996:C:T 20 46008996 C T 20:44637635 0.981939 5371 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic hypoglycemia 0.000186 0.4288 0.1147 Other specified congenital malformation syndromes affecting multiple systems 6.036e-05 38.006 9.474 MMP9 rs41427445 20:46009039:A:G 20 46009039 A G 20:44637678 0.990236 1007 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intestinal infectious diseases 0.000146 0.425 0.1119 Schizophrenia or delusion (more controls excluded) 0 11.837 0 MMP9 rs55789927 20:46010960:C:T 20 46010960 C T 20:44639599 0.980846 2177 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peripheral artery disease 0.000904 0.4612 0.139 Medication related adverse effects (Asthma/COPD) 0.0007249 1.783 0.528 MMP9 rs2274755 20:46011053:G:T 20 46011053 G T 20:44639692 0.999035 49165 LC unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pre-eclampsia or eclampsia 0.000297 0.1298 0.0359 Antenatal screening 0.0006517 -0.11 0.032 MMP9 rs41529445 20:46011266:C:T 20 46011266 C T 20:44639905 0.997181 1572 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Metaphyseal anadysplasia 2;not provided Neurological diseases 0.000712 0.1931 0.057 Congenital deformities of feet 0.001084 74.341 22.75 MMP9 rs17576 20:46011586:A:G 20 46011586 A G 20:44640225 0.999855 87515 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Any mental disorder, or suicide (or attempt), or psychic disorders complicating pregnancy, partum or puerperum or nerve system disorders 0.000479 -0.0325 0.0093 Disorders of psychological developtment 0.0004271 0.136 0.039 MMP9 rs2250889 20:46013767:G:C 20 46013767 G C 20:44642406 0.985768 25466 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypopituitarism 0.000525 0.3659 0.1055 Thyrotoxicosis with diffuse goitr 0.0002227 -0.132 0.036 MMP9 rs17577 20:46014472:G:A 20 46014472 G A 20:44643111 0.999245 49170 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pre-eclampsia or eclampsia 0.000295 0.1299 0.0359 Antenatal screening 0.0006575 -0.11 0.032 SLC12A5 rs780511606 20:46035781:C:T 20 46035781 C T 20:44664420 0.927534 210 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chronic iridocyclitis 0.000148 7.3565 1.9387 SLC12A5 rs16985442 20:46043236:C:G 20 46043236 C G 20:44671875 0.98862 29112 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Early infantile epileptic encephalopathy 34 Premature rupture of membranes 0.00103 0.1869 0.057 Coronary angiopasty 0.00132 -0.265 0.083 SLC12A5 rs199934904 20:46056202:C:G 20 46056202 C G 20:44684841 0.982413 362 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of the nervous system 0.000377 8.2374 2.3165 CD40 rs11086998 20:46128885:C:G 20 46128885 C G 20:44757524 0.978743 737 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Non-allergic asthma (mode) 0.000247 1.3657 0.3726 SLC2A10 rs143301610 20:46725551:C:T 20 46725551 C T 20:45354190 0.884195 112 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter All-cause Heart Failure 0.0012 1.127 0.348 SLC2A10 rs199861432 20:46725637:C:T 20 46725637 C T 20:45354276 0.924274 137 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of wrist and hand 0.000249 15.5981 4.2582 SLC2A10 rs2235491 20:46725652:G:A 20 46725652 G A 20:45354291 0.998408 22985 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arterial tortuosity syndrome;Cardiovascular phenotype;not provided;not specified Guttate psoriasis 0.000146 0.9741 0.2565 Crohn disease ( strict definition, require KELA, min 2 HDR) 0.0004337 1.383 0.393 ZMYND8 rs77137073 20:47249374:C:G 20 47249374 C G 20:45878118 0.958386 1209 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Macular cyst 0.000421 6.0058 1.7031 Superficial injuries involving multiple body regions 0.0008172 121.995 36.45 PREX1 rs111654927 20:48632347:C:A 20 48632347 C A 20:47248885 0.96765 1824 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Any gastric operation 0.00107 0.1706 0.0522 Other and unspecified injuries of abdomen, lower back and pelvis 0.0004685 164.326 46.975 ARFGEF2 rs73113975 20:48941880:C:T 20 48941880 C T 20:47558417 0.986811 1151 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Periventricular Heterotopia;not provided;not specified Polycystic ovarian syndrome 0.000901 2.3907 0.7201 Alcohol abuse, main dg 0.002297 39.271 12.881 ARFGEF2 rs139037316 20:49012058:G:A 20 49012058 G A 20:47628595 0.997342 2462 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided;not specified Open wound of lower leg 0.00126 0.7753 0.2405 Convergent concomitant strabismus 0.003977 26.194 9.095 ZNFX1 rs78573470 20:49249387:T:C 20 49249387 T C 20:47865924 0.992978 409 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intracerebral haemmorrhage 0.00015 2.9358 0.7746 KCNB1 rs34280195 20:49372990:C:T 20 49372990 C T 20:47989527 0.997571 8399 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 26;not provided;not specified Effects of other external causes 0.000901 1.0271 0.3094 UC patients in KELA-register ( KELA 208 prior to 1994, or ICD K51) 0.0002689 1.707 0.469 KCNB1 rs34467662 20:49373087:G:A 20 49373087 G A 20:47989624 0.972886 11200 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 26;not provided;not specified Respiratory disorders in diseases classified elsewhere 0.00147 1.3442 0.4228 Other contact dermatitis 0.001069 1.994 0.61 KCNB1 rs2229006 20:49373713:G:C 20 49373713 G C 20:47990250 0.98947 10547 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 26;not provided;not specified Symptoms and signs involving the skin and subcutaneous tissue 0.000193 0.1764 0.0473 Obsessive-compulsive disorder 0.0007015 2.561 0.756 KCNB1 rs112735799 20:49373723:G:A 20 49373723 G A 20:47990260 0.997131 9500 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 26;not provided;not specified Other specified and unspecified disorders of eye and adnexa 0.000259 0.74 0.2026 0.001068 -0.312 0.095 ADNP rs150900514 20:50891971:C:T 20 50891971 C T 20:49508508 0.994223 3268 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;not specified Endometriosis of rectovaginal septum and vagina 0.000661 -0.8496 0.2495 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 0.0008043 2.015 0.601 DPM1 rs117175017 20:50958484:G:A 20 50958484 G A 20:49575021 0.989021 616 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cramp and spasm 0.00188 3.143 1.0109 NFATC2 rs140836558 20:51524090:C:G 20 51524090 C G 20:50140629 0.93538 1394 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Prolonged pregnancy 0.000201 1.349 0.3628 Complications of other internal prosthetic devices, implants and grafts 0.001686 52.458 16.703 ATP9A rs142435125 20:51729952:C:A 20 51729952 C A 20:50346491 0.966739 784 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medial epicondylitis 0.00173 2.7573 0.8801 SALL4 rs6091375 20:51790091:T:G 20 51790091 T G 20:50406630 0.993492 10855 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter SALL4-Related Spectrum Disorders;not specified Generalized epilepsy, mode (most common among epilepsy diagnosis) 0.000525 0.5377 0.1551 Acute sinusitis 7.734e-05 0.779 0.197 SALL4 rs150549656 20:51790193:A:G 20 51790193 A G 20:50406732 0.999188 5290 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter SALL4-Related Spectrum Disorders;not specified Problems related to negative life events in childhood 0.000322 1.6595 0.4614 Hyperaldosteronism 0.0003204 18.396 5.113 SALL4 rs41274696 20:51790268:C:A 20 51790268 C A 20:50406807 0.993064 1492 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter SALL4-Related Spectrum Disorders;not provided;not specified Synovial cyst of popliteal space [Baker] 0.000595 1.6042 0.4672 Schizoid personality disorder 0.0008249 98.805 29.544 SALL4 rs6126344 20:51790963:A:C 20 51790963 A C 20:50407502 0.999628 80385 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pain (limb, back, neck, head abdominally) 0.000177 -0.0282 0.0075 Diseases of external ear 0.0003677 0.099 0.028 SALL4 rs143818932 20:51791196:A:C 20 51791196 A C 20:50407735 0.962705 98 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of pleura 0.000276 2.7917 0.7677 TSHZ2 rs202246859 20:53253705:T:G 20 53253705 T G 20:51870244 0.903056 0.000299411 0 110 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain in joint 5.44e-06 2.4006 0.5279 CYP24A1 rs114368325 20:54158136:G:A 20 54158136 G A 20:52774675 0.995655 503 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Noninfective enteritis and colitis 0.000921 0.8457 0.2552 CYP24A1 rs149806586 20:54172973:G:T 20 54172973 G T 20:52789512 0.980723 1129 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of cerebrovascular disease 0.000218 0.8621 0.2331 Radiculopathy 9.279e-05 18.498 4.732 AURKA rs2273535 20:56386485:A:T 20 56386485 A T 20:54961541 0.992729 71954 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Foreign body on external eye 0.000628 -0.1313 0.0384 Pterygium 4e-04 0.44 0.124 CASS4 rs148921681 20:56452759:G:T 20 56452759 G T 20:55027815 0.975169 1187 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary ovarian failure 0.00221 3.7132 1.2133 Immune disease comorbidities 2.827e-05 2.699 0.645 BMP7 rs61733438 20:57175004:T:C 20 57175004 T C 20:55750060 0.881761 0.000451838 0 166 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type1 diabetes, definitions combined 9.32e-05 5.2266 1.3375 PCK1 rs147120329 20:57561418:C:T 20 57561418 C T 20:56136474 0.979094 406 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Localized scleroderma [morphea] 0.00071 11.085 3.274 PCK1 rs28359542 20:57562702:C:T 20 57562702 C T 20:56137758 0.992858 295 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary malignant neoplasm of other and unspecified sites 0.000494 12.522 3.5941 PCK1 rs707555 20:57562839:G:C 20 57562839 G C 20:56137895 0.995497 41005 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of head 0.00178 -0.1448 0.0463 Peripheral atherosclerosis 0.001425 0.061 0.019 PCK1 rs8192708 20:57563565:A:G 20 57563565 A G 20:56138621 0.996452 0.0892272 3006 29775 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Phosphoenolpyruvate carboxykinase (GTP) deficiency Spondylosis 2.95e-05 -0.1331 0.0319 Persons with potential health hazards related to communicable diseases 0.0006129 0.543 0.158 PCK1 rs11552145 20:57563592:G:A 20 57563592 G A 20:56138648 0.9938 63988 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Scoliosis 0.00101 -0.1918 0.0583 Interstitial lung disease endpoints 0.0002044 -0.073 0.02 PCK1 rs61760967 20:57563664:C:T 20 57563664 C T 20:56138720 0.990407 198 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Supervision of high-risk pregnancy 0.00014 1.8985 0.4986 PCK1 rs201186470 20:57563691:G:A 20 57563691 G A 20:56138747 0.99664 0.010836 50 3931 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Phosphoenolpyruvate carboxykinase (GTP) deficiency;Phosphoenolpyruvate carboxykinase deficiency, cytosolic Aphakia 9.05e-05 2.4274 0.6201 Other disorders of glucose regulation and pancreatic internal secretion 4.645e-08 9.773 1.788 PCK1 rs1804160 20:57564309:G:A 20 57564309 G A 20:56139365 0.989059 9312 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Phosphoenolpyruvate carboxykinase (GTP) deficiency Other diseases of arteries and capillaries 0.000191 0.524 0.1404 Ulcer of lower limb, not elsewhere classified 0.0002542 2.449 0.669 ZBP1 rs41304401 20:57613163:C:T 20 57613163 C T 20:56188219 0.872182 395 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified enthesopathies of lower limb, excluding foot 0.000994 3.3791 1.0264 ZBP1 rs34917164 20:57616331:C:A 20 57616331 C A 20:56191387 0.88984 1610 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Anus and anal canal 0.000282 2.8614 0.788 Simple and mucoplurulent chronic bronchitis 0.0008772 56.363 16.94 VAPB rs566283411 20:58440983:GTTC:G 20 58440983 GTTC G 20:57016039 0.945916 0.00168487 4 615 inframe_indel dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis type 8;Spinal Muscular Atrophy, Dominant;Spinal muscular atrophy, late-onset, finkel type Haemorrhage from respiratory passages 7.86e-05 1.2731 0.3224 Senile cataract 0.0001527 2.482 0.655 VAPB rs143144050 20:58441020:G:A 20 58441020 G A 20:57016076 0.990709 0.00135007 0 496 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diffuse large B-cell lymphoma (other cancers excluded from controls) 4.54e-06 10.9653 2.3916 STX16 rs142560013 20:58652112:C:A 20 58652112 C A 20:57227168 0.936807 182 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dermatopolymyositis (FG) 0.00118 15.2054 4.6877 STX16 rs41276950 20:58669340:G:A 20 58669340 G A 20:57244396 0.991878 23494 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pseudohypoaldosteronism type 1 autosomal dominant Type 1 diabetes with ketoacidosis 0.000503 0.3078 0.0885 Alzheimer's disease, wide definition (more controls excluded) 0.0005527 0.525 0.152 GNAS rs138731520 20:58853749:A:G 20 58853749 A G 20:57428804 0.947737 232 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyphaema and other vascular disorders of iris and ciliary body 0.000469 12.7597 3.6478 GNAS rs61749696 20:58853893:G:C 20 58853893 G C 20:57428948 0.965738 152 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of ankle and foot 0.000971 9.8176 2.9762 GNAS rs61749697 20:58854392:C:T 20 58854392 C T 20:57429447 0.988735 5151 missense_variant dominant not provided not_provided no assertion provided none not specified Other congenital malformations of ear 0.000658 1.9934 0.5852 Thyroiditis, unspecified 0.0002066 22.656 6.105 GNAS rs55890501 20:58854720:C:A 20 58854720 C A 20:57429775 0.978511 4511 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cushing's syndrome;McCune-Albright syndrome;Progressive osseous heteroplasia;Pseudohypoparathyroidism;Pseudohypoparathyroidism type 1B;Pseudohypoparathyroidism type 1C;Pseudopseudohypoparathyroidism;Somatotroph adenoma Other congenital malformations of ear 0.000822 2.1207 0.634 Thyroiditis, unspecified 0.0001151 31.339 8.127 GNAS rs74897360 20:58855063:C:G 20 58855063 C G 20:57430118 0.967591 2282 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Diabetes mellitus 0.000106 -0.2614 0.0674 0.001592 54.561 17.28 CTSZ rs199825459 20:58997654:A:G 20 58997654 A G 20:57572709 0.978547 1904 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD related to systemic autoimmune disease 0.000607 2.3473 0.6847 3.75e-05 1.627 0.395 TUBB1 rs41303899 20:59023753:G:A 20 59023753 G A 20:57598808 0.977128 265 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Meniere disease 0.000552 3.4753 1.0061 TUBB1 rs140943896 20:59024502:C:T 20 59024502 C T 20:57599557 0.990898 0.0381504 522 13494 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Hypertension 9.83e-10 0.1583 0.0259 Tobacco use 8.869e-06 6.834 1.538 EDN3 rs113842164 20:59301498:AGAGACTGTGGCTGGCCCTGGCGAG:A 20 59301498 AGAGACTGTGGCTGGCCCTGGCGAG A 20:57876553 0.889387 157 inframe_indel both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cerebral palsy and other paralytic syndromes 0.000255 4.3394 1.1864 EDN3 rs11570344 20:59322388:G:GA 20 59322388 G GA 20:57897443 0.96026 2315 pLoF both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital central hypoventilation;Hirschsprung Disease, Dominant;Hirschsprung disease;Waardenburg syndrome;not specified Abnormal findings on diagnostic imaging of central nervous system 0.000723 2.0578 0.6087 Postzoster neuralgia 0.0003916 157.746 44.49 EDN3 rs11570351 20:59324412:G:A 20 59324412 G A 20:57899467 0.866854 111 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spontaneous rupture of synovium and tendon 0.000185 6.792 1.8165 SYCP2 rs151163205 20:59880392:A:G 20 59880392 A G 20:58455447 0.970663 429 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma-related infections 0.000146 -0.4394 0.1157 Nerve, nerve root and plexus disorders 9.155e-06 5.479 1.235 SYCP2 rs142942464 20:59886747:T:C 20 59886747 T C 20:58461802 0.937121 0.00396583 22 1435 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of lung 1.92e-05 0.7614 0.1781 Primary open-angle glaucoma 0.001186 7.607 2.346 OSBPL2 rs199648498 20:62281840:A:G 20 62281840 A G 20:60856896 0.985971 495 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Ventral hernia 0.00133 1.277 0.398 ADRM1 rs45576934 20:62308135:C:T 20 62308135 C T 20:60883191 0.938319 0.00492939 10 1801 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emotional disorders starting during childhood or adolecense 6.15e-05 2.1153 0.5279 Delirium, not induced by alcohol and other psychoactive substances 0.0001131 20.443 5.295 LAMA5 rs138468519 20:62309371:C:T 20 62309371 C T 20:60884427 0.96123 3724 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Pain, not elsewhere classified 0.000636 -0.4707 0.1378 Benign neoplasm: Descending colon 0.0002869 16.965 4.678 LAMA5 rs140197067 20:62309796:G:A 20 62309796 G A 20:60884852 0.909139 1819 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Use of disulfiram, acamprosate or naltrexone 0.00114 1.0194 0.3133 Acquired absence of organs, not elsewhere classified 0.0002193 294.32 79.639 LAMA5 rs77106948 20:62309824:C:G 20 62309824 C G 20:60884880 0.958031 182 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Primary open-angle glaucoma 0.000812 2.1901 0.654 LAMA5 rs139502000 20:62310186:C:T 20 62310186 C T 20:60885242 0.986607 1601 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital malformations of genital organs 0.000588 1.2266 0.3568 LAMA5 rs111653839 20:62318579:C:T 20 62318579 C T 20:60893635 0.953608 3505 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Polymicrogyria Coagulation defects, purpura and other haemorrhagic conditions 0.0013 0.5439 0.1691 Lung diseases due to external agents 0.0008269 10.963 3.279 LAMA5 rs147290767 20:62318641:C:T 20 62318641 C T 20:60893697 0.972041 1081 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Spondylolisthesis/Spondylolysis 0.00167 -0.9837 0.3129 0.001697 -1.826 0.582 LAMA5 rs148177752 20:62324457:C:A 20 62324457 C A 20:60899513 0.957971 6996 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atrial fibrillation and flutter with reimbursement 0.00038 -0.2687 0.0756 Lesion of ulnar nerve 0.0009261 3.131 0.945 LAMA5 rs142055388 20:62325332:C:T 20 62325332 C T 20:60900388 0.981208 252 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vascular syndromes of brain in cerebrovascular disorders 0.00162 5.4092 1.7156 LAMA5 rs45496002 20:62326876:C:T 20 62326876 C T 20:60901932 0.959774 2124 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bacterial pneumonia, not elsewhere classified 0.000588 0.4513 0.1313 Acute sinusitis 0.0003884 5.518 1.555 LAMA5 rs74781811 20:62327909:G:A 20 62327909 G A 20:60902965 0.939259 901 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Presence of other functional implants 0.00113 0.6505 0.1998 LAMA5 rs138521932 20:62332705:G:A 20 62332705 G A 20:60907761 0.989969 0.00329896 10 1202 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic tubulo-interstitial nephritis 8.43e-05 2.6834 0.6825 Abscess of Bartholin gland 0.002757 35.826 11.967 LAMA5 rs148515817 20:62336378:A:C 20 62336378 A C 20:60911434 0.950293 0.00288795 14 1047 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sudden idiopathic hearing loss 1.31e-07 2.3571 0.4467 Supervision of high-risk pregnancy 0.0001871 6.163 1.65 LAMA5 rs78026347 20:62351710:G:A 20 62351710 G A 20:60926766 0.991877 0.00330169 10 1203 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic tubulo-interstitial nephritis 8.5e-05 2.6789 0.6817 Abscess of Bartholin gland 0.002756 35.832 11.969 GATA5 rs200383755 20:62475466:G:C 20 62475466 G C 20:61050522 0.922082 973 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Fracture of neck 0.000622 2.6671 0.7794 GATA5 rs113068438 20:62475514:T:C 20 62475514 T C 20:61050570 0.963331 4816 missense_variant both Likely benign (likely)Benign no assertion criteria provided no_Criteria Thoracic aortic aneurysm and aortic dissection Sudden idiopathic hearing loss 0.000678 0.6402 0.1884 Medication related adverse effects (Asthma/COPD) 0.0009359 1.009 0.305 NTSR1 rs34257083 20:62709380:C:T 20 62709380 C T 20:61340732 0.991925 0.00977441 46 3545 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sixth [abducent] nerve palsy 9.19e-05 1.9158 0.4898 Placenta praevia 0.0004892 13.877 3.98 NTSR1 rs11698783 20:62709422:C:T 20 62709422 C T 20:61340774 0.889458 0.00405838 8 1483 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Male infertility 5.89e-05 2.5267 0.629 Alcohol abuse counselling and surveillance 0.0003975 303.995 85.832 NTSR1 rs139953956 20:62760026:A:G 20 62760026 A G 20:61391378 0.806123 544 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasm of uterus: Other parts/unspecified 0.00115 2.8829 0.8871 0.004105 -3.501 1.22 NTSR1 rs143899545 20:62760031:T:C 20 62760031 T C 20:61391383 0.950611 3452 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acne 0.00017 0.9612 0.2557 Anxious personality disorder 0.0006259 44.965 13.147 COL9A3 rs143307835 20:62819247:C:T 20 62819247 C T 20:61450599 0.986072 0.0480473 1004 16648 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant Pain (limb, back, neck, head abdominally) 8.79e-05 -0.0641 0.0163 Mental retardation (more controls excluded) 0.0008797 2.371 0.713 COL9A3 rs61734651 20:62819980:C:T 20 62819980 C T 20:61451332 0.975651 0.0875995 2898 29285 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Intervertebral disc disease, susceptibility to;Multiple Epiphyseal Dysplasia, Dominant;not specified Sensorineural hearing loss 1.27e-06 0.1185 0.0245 General examination and investigation of persons without complaint and reported diagnosis 1.348e-05 0.228 0.052 COL9A3 rs142639450 20:62819981:G:A 20 62819981 G A 20:61451333 0.953557 1316 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Macular hole 0.000267 2.7037 0.7417 COL9A3 rs139401633 20:62821775:G:A 20 62821775 G A 20:61453127 0.971415 0.00109421 0 402 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transient ischemic attack 3.61e-05 1.2441 0.3011 COL9A3 rs139573483 20:62826783:G:A 20 62826783 G A 20:61458135 0.965624 1078 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polymyalgia rheumatica 0.0011 1.4203 0.4353 COL9A3 rs45628843 20:62827963:C:T 20 62827963 C T 20:61459315 0.961111 12121 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant;not provided;not specified All anxiety disorders 0.000933 -0.1518 0.0459 0.0002075 5.543 1.494 COL9A3 rs138648117 20:62830559:C:G 20 62830559 C G 20:61461911 0.953902 120 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Entropion and trichiasis of eyelid 0.00144 5.3724 1.6862 COL9A3 rs751557 20:62832170:C:A 20 62832170 C A 20:61463522 0.994741 0.195581 14324 57530 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Parotid gland (other cancers excluded from controls) 3.38e-05 0.2806 0.0677 Chronic pancreatitis 0.001263 -0.237 0.073 COL9A3 rs145821912 20:62837235:A:C 20 62837235 A C 20:61468587 0.862231 231 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases of urinary system 0.000278 0.9042 0.2487 COL9A3 rs142792529 20:62838713:G:A 20 62838713 G A 20:61470065 0.992637 6326 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Multiple Epiphyseal Dysplasia, Dominant;not specified Atherosclerosis, excluding cerebral, coronary and PAD 0.0016 -0.264 0.0837 Other retinal artery occlusion 0.0005385 14.266 4.122 CHRNA4 rs78306886 20:63350051:C:T 20 63350051 C T 20:61981403 0.903924 131 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unstable angina pectoris 0.000234 2.3732 0.645 CHRNA4 rs55915440 20:63350059:G:A 20 63350059 G A 20:61981411 0.933337 384 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Autosomal dominant nocturnal frontal lobe epilepsy;Seizures;not provided;not specified Hypertensive heart and/or renal disease 0.000671 1.4922 0.4387 Chronic iridocyclitis 0.001261 67.058 20.796 KCNQ2 rs1801475 20:63406924:T:G 20 63406924 T G 20:62038277 0.984542 82143 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Vagina (other cancers excluded from controls) 0.000356 -0.4288 0.1201 Plantar fascial fibromatosis 0.0001773 -0.113 0.03 HELZ2 rs116816080 20:63567608:G:A 20 63567608 G A 20:62198961 0.977424 529 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified nerve root and plexus disorders, also in other diseases 0.00114 1.6384 0.5037 RTEL1 rs41297642 20:63662509:C:T 20 63662509 C T 20:62293862 0.974169 0.0022102 2 810 missense_variant both Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chron's disease NAS 4.46e-05 2.4926 0.6106 RTEL1-TNFRSF6B rs41309367 20:63678201:C:T 20 63678201 C T 20:62309554 0.995562 0.735231 199070 71045 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis, strict definition 4.19e-11 0.1764 0.0267 Atopic dermatitis, strict definition 4.665e-09 0.098 0.017 RTEL1 rs143550996 20:63678268:T:C 20 63678268 T C 20:62309621 0.989041 941 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Carrier of infectious disease 0.00126 4.2923 1.3305 Hepatomegaly and splenomegaly, not elsewhere classified 0.0002526 283.257 77.402 RTEL1 rs35640778 20:63689775:G:A 20 63689775 G A 20:62321128 0.983643 0.0133483 80 4824 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Other specified congenital malformation syndromes affecting multiple systems 6.31e-05 2.3723 0.5929 Other and unspecified paralytic syndromes 0.0001373 26.457 6.939 RTEL1 rs200003693 20:63690091:G:A 20 63690091 G A 20:62321444 0.995714 1441 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other juvenile arthritis 0.000309 2.1837 0.6053 Colitis, primary sclerosing, strict definition 0.0002964 246.295 68.066 RTEL1-TNFRSF6B rs2236506 20:63690302:G:A 20 63690302 G A 20:62321655 0.993536 0.804966 238564 57171 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atopic dermatitis 2.38e-12 0.1844 0.0263 Atopic dermatitis 2.401e-10 0.097 0.015 RTEL1 rs558133631 20:63690337:GAGA:G 20 63690337 GAGA G 20:62321690 0.979911 0.0171127 118 6169 inframe_indel both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3;not specified Hyperplasia of prostate 1.31e-05 0.3086 0.0708 Dizziness and giddiness 6.875e-05 1.269 0.319 RTEL1-TNFRSF6B rs200068703 20:63690377:C:T 20 63690377 C T 20:62321730 0.808663 0.00334524 2 1227 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Aneurysms, operations, SAH 1.32e-05 1.4353 0.3294 Atrial fibrillation and flutter with reimbursement 0.0001739 5.274 1.405 RTEL1 rs150461578 20:63690835:G:T 20 63690835 G T 20:62322188 0.977699 2344 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 AV-block 0.000884 0.7243 0.2178 Spontaneous abortion 0.0007397 4.591 1.361 RTEL1 rs190887884 20:63690937:G:A 20 63690937 G A 20:62322290 0.952578 6006 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3;not specified Trigger finger 0.00265 0.4524 0.1505 Other ulcerative colitis 0.0002385 8.718 2.373 RTEL1 rs61736615 20:63692937:G:A 20 63692937 G A 20:62324290 0.939592 0.0356381 496 12597 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Other keratitis 9.63e-05 0.4531 0.1162 Optic atrophy 9.476e-06 9.377 2.117 RTEL1 rs143967591 20:63693266:C:T 20 63693266 C T 20:62324619 0.931144 160 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Salphingitis and oophoritis 0.000419 2.9932 0.8484 RTEL1 rs115610405 20:63694480:C:A 20 63694480 C A 20:62325833 0.997263 0.0459732 800 16090 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dyskeratosis congenita, autosomal recessive, 5;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 Melanocytic naevi (other cancers excluded from controls) 2.53e-06 -0.2944 0.0626 Other and unspecified vasculitis limited to skin 0.0003262 4.304 1.198 RTEL1 rs3208008 20:63694757:A:C 20 63694757 A C 20:62326110 0.99444 0.799357 235198 58476 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Atopic dermatitis 7.43e-12 0.178 0.026 Atopic dermatitis 1.096e-10 0.099 0.015 RTEL1-TNFRSF6B rs2738787 20:63697022:A:G 20 63697022 A G 20:62328375 0.989772 22412 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other bursopathies 0.000295 -0.2691 0.0743 Other bursopathies 0.0001483 -0.149 0.039 SLC2A4RG rs199721279 20:63742485:A:G 20 63742485 A G 20:62373838 0.954852 406 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specific arthropathies 0.000281 8.9538 2.4649 MYT1 rs117661126 20:64207605:G:A 20 64207605 G A 20:62838958 0.976733 24651 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain (limb, back, neck, head abdominally) 0.000679 -0.0459 0.0135 Other congenital malformations of ear 0.0009897 2.339 0.71 LIPI rs61740029 21:14165268:A:G 21 14165268 A G 21:15537589 0.995722 1440 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ankylosing hyperostosis [Forestier] 0.000316 4.8046 1.3339 Other congenital malformations 5.91e-05 33.77 8.408 SAMSN1 rs151160030 21:14582274:C:A 21 14582274 C A 21:15954595 0.900663 588 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormalities of gait and mobility 0.00181 2.0436 0.6552 0.0001185 5.947 1.545 NRIP1 rs61750207 21:14964790:G:A 21 14964790 G A 21:16337111 0.987018 907 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebral palsy and other paralytic syndromes 0.00103 1.3886 0.4231 Crushing injury of wrist and hand 0.0002996 224.862 62.191 NRIP1 rs61755058 21:14966122:G:A 21 14966122 G A 21:16338443 0.978666 0.000982612 0 361 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Care involving dialysis 8.48e-05 4.1816 1.0639 APP rs63750847 21:25897620:C:T 21 25897620 C T 21:27269932 0.996328 1286 missense_variant dominant protective protective no assertion criteria provided no_Criteria Type 2 diabetes with renal complications 0.000426 1.447 0.4107 APP rs199887707 21:25911840:C:T 21 25911840 C T 21:27284152 0.99617 932 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Early-Onset Familial Alzheimer Disease Circumscribed brain atrophy 0.00194 4.2005 1.3551 Fracture of forearm 0.001137 7.436 2.285 APP rs140304729 21:25911855:C:T 21 25911855 C T 21:27284167 0.993109 0.00824741 24 3006 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gluteal tendinitis 5.98e-05 2.3874 0.5948 Other disorders of the genitourinary system 0.0006051 12.661 3.692 ADAMTS1 rs149580995 21:26838049:G:A 21 26838049 G A 21:28210368 0.940862 822 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain, not elsewhere classified 0.000701 1.0377 0.3062 ADAMTS1 rs71317487 21:26838138:T:C 21 26838138 T C 21:28210457 0.985188 375 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of other connective and soft tissue 0.000397 8.3339 2.3529 GRIK1 rs363503 21:29553703:G:A 21 29553703 G A 21:30926024 0.933147 670 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Transient global amnesia 0.000431 2.1834 0.6202 KRTAP6-3 rs75088048 21:30592588:G:T 21 30592588 G T 21:31964907 0.967842 4304 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Death due to cardiac causes 0.000305 -0.3385 0.0937 0.001684 53.633 17.076 TIAM1 rs141720377 21:31266881:C:T 21 31266881 C T 21:32639197 0.968367 0.0223769 204 8017 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effect of carbon monoxide 5.1e-05 1.5958 0.3939 0.0002112 1.752 0.473 SOD1 rs80265967 21:31667290:A:C 21 31667290 A C 21:33039603 0.99867 0.00915381 18 3345 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Amyotrophic Lateral Sclerosis, Dominant;Amyotrophic lateral sclerosis 1, autosomal recessive;Amyotrophic lateral sclerosis type 1;not provided Motor neuron disease (with DMD) 5.26e-05 2.7917 0.6904 Motor neuron disease 1.306e-08 116.661 20.52 URB1 rs183045720 21:32319217:C:T 21 32319217 C T 21:33691527 0.972224 5502 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of other B group vitamins 0.00012 1.6759 0.4357 Malignant neoplasm of pancreas 0.001185 9.541 2.943 URB1 rs141550612 21:32338817:G:A 21 32338817 G A 21:33711126 0.986697 1550 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute appendicitis 0.00196 -0.319 0.103 TCP10L rs541034925 21:32576780:A:AC 21 32576780 A AC 21:33949090 0.917876 4964 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the ankle and foot 0.000296 -0.2407 0.0665 Other diseases of upper respiratory tract 0.0001014 0.804 0.207 C21orf59 rs61735781 21:32603205:C:T 21 32603205 C T 21:33975515 0.980307 0.00566159 12 2068 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Congenital malformations of cardiac septa 1.74e-05 1.9827 0.4616 Vascular diseases of the intestine 0.002046 41.15 13.346 C21orf59 rs746361802 21:32603260:C:CGCCTCTGCCT 21 32603260 C CGCCTCTGCCT 21:33975570 0.981209 361 pLoF unknown Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Diaphragmatic hernia 0.000513 1.3717 0.3949 C21orf59 rs138178722 21:32612167:T:G 21 32612167 T G 21:33984477 0.992791 244 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Loose body in joint 0.00118 9.1939 2.8344 SYNJ1 rs61750217 21:32631476:C:T 21 32631476 C T 21:34003786 0.993562 0.00610526 18 2225 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epileptic encephalopathy, early infantile, 53;Parkinson disease 20, early-onset;not provided Other hearing loss 5.13e-05 0.7002 0.1729 Personal history of risk-factors, not elsewhere classified 0.001428 61.231 19.201 SYNJ1 rs71640263 21:32631618:A:AAGTATT 21 32631618 A AAGTATT 21:34003928 0.988266 88924 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other external causes of accidental injury 0.00417 -0.1203 0.042 Benign neoplasm: Oesophagus 0.0004282 -0.453 0.128 SYNJ1 rs145937537 21:32639778:G:A 21 32639778 G A 21:34012088 0.981153 278 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unstable angina pectoris 0.000208 1.5575 0.42 SYNJ1 rs2254562 21:32687042:T:C 21 32687042 T C 21:34059352 0.998094 67011 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Scar conditions and fibrosis of skin 0.000361 0.3092 0.0867 Unspecified haematuria 0.0004306 0.109 0.031 IFNAR2 rs2229207 21:33241945:T:C 21 33241945 T C 21:34614250 0.993295 0.0862304 2768 28912 missense_variant recessive risk factor risk factor no assertion criteria provided no_Criteria Hepatitis b virus, susceptibility to Contusion of toe(s) without damage to nail 8.56e-05 0.7587 0.1932 Benign neoplasm: Vagina 0.0007157 1.98 0.585 IFNAR2 rs1131668 21:33262573:G:A 21 33262573 G A 21:34634878 0.980368 83385 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Infective dermatitis 0.000492 0.1457 0.0418 Polycythaemia vera 0.0002444 0.345 0.094 IL10RB rs2834167 21:33268483:A:G 21 33268483 A G 21:34640788 0.997555 79162 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute nasopharyngitis(common cold) 0.00131 0.1158 0.036 Disorders of porphyrin and bilirubin metabolism 0.001021 0.543 0.165 IFNGR2 rs4986958 21:33414987:C:G 21 33414987 C G 21:34787294 0.991789 1724 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Immunodeficiency 28;Interferon gamma receptor deficiency Other and unspecified disorders of skin and subcutaneous tissue 0.000256 1.6184 0.4426 Ovarian cyst 0.0002692 3.003 0.824 IFNGR2 rs139212989 21:33421581:C:T 21 33421581 C T 21:34793888 0.950831 192 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Dementia due to Parkinsons disease 0.000669 9.097 2.6739 IFNGR2 rs17878639 21:33426910:G:A 21 33426910 G A 21:34799217 0.982931 185 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other osteochondropathies 0.000161 5.2988 1.4044 IFNGR2 rs121913208 21:33426937:A:C 21 33426937 A C 21:34799244 0.997676 0.00325541 4 1192 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Melanocytic naevi 1.14e-05 1.0715 0.2442 SON rs13049658 21:33550895:C:T 21 33550895 C T 21:34923201 0.939245 698 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Female infertility, associated with anovulation 0.000282 2.5799 0.7104 Colitis, primary sclerosing, strict definition 0.000285 365.949 100.852 SON rs141608426 21:33551311:A:G 21 33551311 A G 21:34923617 0.99272 736 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Venous thromboembolism 0.000134 0.8088 0.2118 Hypothermia 0.0006945 115.759 34.13 SON rs144188863 21:33552557:C:T 21 33552557 C T 21:34924863 0.997912 966 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified trigeminal disorders 0.000126 5.8271 1.5196 Faecal incontinence 0.002362 37.044 12.183 SON rs146053621 21:33554431:G:A 21 33554431 G A 21:34926737 0.971819 123 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other embolism and thrombosis 0.000183 5.2586 1.4056 DONSON rs140592434 21:33579502:C:T 21 33579502 C T 21:34951808 0.996018 1817 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified soft tissue disorders related to use, overuse and pressure 0.000283 2.671 0.7358 Pneumonia due to other infectious organisms, not elsewhere classified 0.001222 70.128 21.687 KCNE2 rs2234916 21:34370500:A:G 21 34370500 A G 21:35742799 0.906809 1832 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Long QT syndrome 6;Long QT syndrome, drug-associated;not provided;not specified Ulcerative rectosigmoiditis 0.00114 1.1473 0.3528 Transport accidents 0.001853 48.106 15.454 RUNX1 rs202068364 21:34792325:A:C 21 34792325 A C 21:36164622 0.81739 146 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter False labour 0.000471 2.0583 0.5886 RUNX1 rs748122795 21:34799317:AAGTTCTGCAGAG:A 21 34799317 AAGTTCTGCAGAG A 21:36171614 0.959896 209 inframe_indel dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Urethral stricture 0.000158 7.1222 1.8851 RUNX1 rs111527738 21:34887027:A:G 21 34887027 A G 21:36259324 0.993995 6298 missense_variant dominant Benign (likely)Benign reviewed by expert panel Criteria_multSubmitter Familial platelet disorder with associated myeloid malignancy;not provided;not specified Umbilical hernia 0.000244 0.3674 0.1002 0.0001491 1.713 0.452 CBR1 rs146758729 21:36072631:G:A 21 36072631 G A 21:37444929 0.98415 618 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypersensitivity pneumonitis due to organic dust 0.00201 5.0721 1.6422 CBR3 rs1056892 21:36146408:G:A 21 36146408 G A 21:37518706 0.999975 77722 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Intermittent heterotropia 0.000341 -0.2286 0.0638 Malignant neoplasm of stomach (other cancers excluded from controls) 0.0003769 0.286 0.08 DOPEY2 rs77696046 21:36230730:C:T 21 36230730 C T 21:37603028 0.982274 5839 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Brain, supratentorial (other cancers excluded from controls) 0.0024 1.422 0.4684 Chorioretinal inflammation 0.001232 9.682 2.996 DOPEY2 rs61752464 21:36246232:C:G 21 36246232 C G 21:37618530 0.959061 336 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain in joint 0.000266 0.9894 0.2713 DOPEY2 rs138528690 21:36270020:C:G 21 36270020 C G 21:37642318 0.997585 1551 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of stomach (other cancers excluded from controls) 0.00181 1.7269 0.5537 Parapsoriasis 0.0006927 115.627 34.084 CLDN14 rs113831133 21:36461685:G:A 21 36461685 G A 21:37833983 0.988217 2622 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Congenital malformations of heart and great arteries 0.000301 0.8548 0.2365 Malignant neoplasm of breast 0.0008222 3.858 1.153 HLCS rs150665851 21:36756630:C:T 21 36756630 C T 21:38128931 0.953087 5380 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Holocarboxylase synthetase deficiency;not provided Prepatellar bursitis 0.000344 1.0235 0.2859 Hypertensive diseases (excluding secondary) 0.001267 -0.824 0.256 HLCS rs61732501 21:36936474:C:T 21 36936474 C T 21:38308774 0.993745 5453 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Holocarboxylase synthetase deficiency;not specified Blepharochalasis 0.00145 -0.3511 0.1102 Migraine, single triptan purchase ok & required. ICD-code if available is included 0.0001815 1.44 0.385 HLCS rs200886053 21:36936544:C:T 21 36936544 C T 21:38308844 0.977567 1129 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Symptoms and signs involving the skin and subcutaneous tissue 0.00021 0.5508 0.1486 Pustulosis palmaris et plantaris 0.001184 72.039 22.215 HLCS rs146030669 21:36936555:C:T 21 36936555 C T 21:38308855 0.911519 0.00100983 2 369 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm 8.37e-05 0.6016 0.1529 HLCS rs142524025 21:36936813:G:A 21 36936813 G A 21:38309113 0.990439 510 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter KELA_REIMBURSEMENT_202 0.000171 -0.9295 0.2473 HLCS rs61732502 21:36937159:C:T 21 36937159 C T 21:38309459 0.998661 5927 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Holocarboxylase synthetase deficiency;not specified Allergic purpura 0.000286 1.1606 0.3199 Type 1 diabetes with renal complications 9.806e-05 9.909 2.544 HLCS rs61732504 21:36937319:C:A 21 36937319 C A 21:38309619 0.998577 5926 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Holocarboxylase synthetase deficiency;not specified Allergic purpura 0.000284 1.1614 0.32 Type 1 diabetes with renal complications 9.806e-05 9.909 2.544 TTC3 rs138008526 21:37195684:G:A 21 37195684 G A 21:38567985 0.983634 0.00185635 2 680 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of vestibular function (Vertigo) 4.42e-07 1.2674 0.251 DYRK1A rs145857775 21:37493131:A:G 21 37493131 A G 21:38865433 0.996158 0.0126351 40 4602 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;Mental retardation, autosomal dominant 7;not specified Superficial injury of ankle and foot 8.44e-05 0.7902 0.201 Other disorders of bladder 0.001923 7.407 2.388 KCNJ15 rs79109585 21:38299277:A:G 21 38299277 A G 21:39671199 0.991535 1926 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sixth [abducent] nerve palsy 0.000441 2.2553 0.6417 Other psoriatic arthropathies 0.0001488 22.975 6.057 ETS2 rs34373350 21:38814278:G:A 21 38814278 G A 21:40186202 0.943993 373 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified nerve root and plexus disorders, also in other diseases 0.000632 2.504 0.7327 ETS2 rs61735785 21:38818484:C:A 21 38818484 C A 21:40190408 0.955701 901 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pilonidal cyst 0.000502 1.6105 0.4628 Sequelae of injuries of lower limb 0.003331 29.505 10.052 TMPRSS2 rs61735793 21:41494370:G:A 21 41494370 G A 21:42866297 0.986445 4497 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of synovium and tendon 0.00117 -0.2404 0.0741 Muscle strain 0.0003989 16.625 4.695 RIPK4 rs35537517 21:41741092:G:A 21 41741092 G A 21:43161252 0.84431 0.000560715 0 206 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sleep apnoea 7.66e-05 1.4517 0.3671 RIPK4 rs3746891 21:41741197:T:C 21 41741197 T C 21:43161357 0.994776 3780 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anankastic personality disorder 0.00115 -1.2965 0.3987 Anankastic personality disorder 0.00101 -0.661 0.201 RIPK4 rs146341788 21:41746611:A:G 21 41746611 A G 21:43166771 0.971267 0.00223742 12 810 pLoF recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Myeloproliferative diseases 2.18e-05 2.9959 0.7056 Behavioural disorders (more controls excluded) 0.0003298 217.956 60.7 RIPK4 rs6586239 21:41767007:G:C 21 41767007 G C 21:43187167 0.99472 0.142095 7630 44574 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other acute lower respiratory infections 9.77e-05 0.0926 0.0238 Other acute lower respiratory infections 6.765e-05 0.166 0.042 TFF3 rs118095917 21:42313518:C:T 21 42313518 C T 21:43733628 0.975021 888 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthropathy in ulcerative colitis 0.000198 7.4353 1.9975 Excessive, freguent and irrelgular menstruation 3.315e-05 2.184 0.526 TMPRSS3 rs2839500 21:42383058:T:C 21 42383058 T C 21:43803167 0.997474 31159 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Symptoms and signs involving the circulatory and respiratory systems 0.000769 0.0461 0.0137 Heart failure,strict 0.00015 0.239 0.063 TMPRSS3 rs34966432 21:42383199:C:CTA 21 42383199 C CTA 21:43803308 0.99703 27591 LC recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Valvular heart disease including rheumatic fever 0.000345 0.0655 0.0183 Other specified disorders of muscle 0.0006598 1.278 0.375 TMPRSS3 rs150397427 21:42385484:C:A 21 42385484 C A 21:43805593 0.984879 1042 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not provided;not specified All-cause Heart Failure 0.000329 0.4335 0.1207 Additional codes for the location of defect, injury or illness 0.0009033 86.11 25.944 TMPRSS3 rs147231991 21:42388436:G:T 21 42388436 G T 21:43808545 0.953667 265 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute appendicitis, no complications 0.0018 0.9562 0.3063 TMPRSS3 rs35227181 21:42388518:C:T 21 42388518 C T 21:43808627 0.988796 32288 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Ptosis of eyelid 0.000238 0.2849 0.0775 Fracture of foot, except ankle 0.0004168 -0.365 0.103 TMPRSS3 rs201811831 21:42388964:G:A 21 42388964 G A 21:43809073 0.972703 0.00134735 0 495 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of liver and intrahepatic bile ducts (other cancers excluded from controls) 4.4e-05 8.017 1.9625 TMPRSS3 rs45598239 21:42388983:C:T 21 42388983 C T 21:43809092 0.993771 0.0441903 726 15509 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Fitting and adjustment of other devices 1.78e-06 0.2913 0.061 Panniculitis affecting regions of neck and back 0.0004725 2.177 0.623 TMPRSS3 rs928302 21:42389975:C:T 21 42389975 C T 21:43810084 0.985563 20996 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Nonsyndromic Hearing Loss, Recessive;not specified Carcinoma in situ of breast, intraductal 0.000472 0.4047 0.1158 Oher diseases of blood and blood-forming organs 0.0007115 1.482 0.438 TMPRSS3 rs56369547 21:42396021:C:G 21 42396021 C G 21:43816130 0.959708 3444 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other abnormal products of conception 0.000267 0.4169 0.1144 Benign neoplasm: Other and unspecified parts of small intestine 0.0001545 11.584 3.062 TMPRSS3 rs56100074 21:42396088:C:T 21 42396088 C T 21:43816197 0.939741 356 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter conjunctival degenerations and deposits 0.000117 8.8199 2.2892 RSPH1 rs150629342 21:42472841:T:C 21 42472841 T C 21:43892951 0.961487 234 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinoschisis and retinal cysts 0.000325 12.5777 3.499 RSPH1 rs117385282 21:42476033:C:T 21 42476033 C T 21:43896143 0.996689 50111 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Exophthalmic conditions 0.000709 0.6323 0.1867 Diseases of inner ear 0.001025 -0.126 0.038 RSPH1 rs151158140 21:42476042:C:T 21 42476042 C T 21:43896152 0.965212 903 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma, unspecified (mode) 0.00242 0.5596 0.1845 RSPH1 rs138007679 21:42477368:A:C 21 42477368 A C 21:43897478 0.852775 0.00194073 2 711 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Liver (other cancers excluded from controls) 2.22e-06 9.4665 2.0005 RSPH1 rs146298259 21:42477381:G:T 21 42477381 G T 21:43897491 0.918196 807 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ciliary dyskinesia Use of antiglaucoma preparations and miotics 0.000129 2.3988 0.6267 Hypertensive diseases 0 1.874 0 SLC37A1 rs117821416 21:42565848:A:T 21 42565848 A T 21:43985958 0.891354 306 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecidied mood [affective] disorders 0.000288 4.7871 1.3204 PDE9A rs75225742 21:42770791:T:G 21 42770791 T G 21:44190901 0.996086 1410 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sicca syndrome [Sjogren] 0.000638 1.4259 0.4175 Hypo-osmolality and hyponatraemia 3.629e-05 17.43 4.22 NDUFV3 rs141922962 21:42897046:A:C 21 42897046 A C 21:44317156 0.92971 433 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other nutritional anaemias 0.000414 13.1855 3.734 CSTB rs143153487 21:43774705:C:T 21 43774705 C T 21:45194586 0.995555 631 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Progressive myoclonic epilepsy;Unverricht-Lundborg syndrome;not provided;not specified Other and unspecified mononeuropathies of upper limb 0.000339 4.7469 1.3246 Hypersensitivity pneumonitis due to organic dust 0.0003488 209.749 58.653 AIRE rs758870962 21:44286561:C:T 21 44286561 C T 21:45706444 0.970908 0.00078119 0 287 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cervical disc disorders 1.44e-05 1.7471 0.4027 AIRE rs753460287 21:44286590:C:T 21 44286590 C T 21:45706473 0.974379 196 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Trochanteric bursitis 0.000816 3.792 1.1329 AIRE rs121434254 21:44289773:C:T 21 44289773 C T 21:45709656 0.998688 0.00433057 10 1581 pLoF both Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyglandular autoimmune syndrome, type 1;not provided Adrenocortical insufficiency 4.33e-06 4.007 0.8721 0 3.032 0 AIRE rs1800520 21:44290023:C:G 21 44290023 C G 21:45709906 0.9963 34595 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute nasopharyngitis(common cold) 0.000494 -0.1887 0.0542 Arthrosis 0.0001748 0.136 0.036 AIRE rs150634562 21:44291116:G:A 21 44291116 G A 21:45710999 0.99649 2461 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not provided Conduct disorder 0.000304 2.1801 0.6036 Autism 0.001233 70.799 21.911 AIRE rs79212994 21:44293015:C:T 21 44293015 C T 21:45712898 0.944341 491 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abscess of external ear 0.00053 7.3911 2.1332 AIRE rs367619299 21:44293857:C:T 21 44293857 C T 21:45713740 0.947905 314 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bullous pemphigoid 0.000762 10.5756 3.1416 AIRE rs74203920 21:44294411:C:T 21 44294411 C T 21:45714294 0.985394 0.0372848 576 13122 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyglandular autoimmune syndrome, type 1;not provided;not specified Type 1 diabetes with ophthalmic complications 3e-11 0.57 0.0858 Pain associated with micturition 0.0001415 1.939 0.509 AIRE rs145370269 21:44296386:G:A 21 44296386 G A 21:45716269 0.991646 7572 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vitamin D deficiency 0.000152 1.8685 0.4933 Demyelenating diseases of the central nervous system 0.0002507 4.491 1.227 PFKL rs1057037 21:44313984:A:T 21 44313984 A T 21:45733867 0.993666 24583 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Visual field defects 0.00105 -0.3069 0.0936 Diabetic background retinopathy 0.0004638 0.632 0.18 PFKL rs141250471 21:44325182:C:A 21 44325182 C A 21:45745065 0.960192 164 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Lupus erythematosus 0.000603 11.6765 3.4039 PFKL rs17850433 21:44326219:T:C 21 44326219 T C 21:45746102 0.988779 1854 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obesity due to excess calories 0.000399 0.5659 0.1598 ILD-related respiratory insufficiency 0.0002853 6.577 1.813 C21orf2 rs11552066 21:44330262:T:C 21 44330262 T C 21:45750145 0.978921 0.110458 4802 35779 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified/unspecified disorders of synovium and tendon +Other specified/unspecified bursopathies 2.2e-05 0.414 0.0976 Persons with potential health hazards related to family and personal history and certain conditions influencing health status 0.0004914 0.129 0.037 C21orf2 rs2277809 21:44331939:G:A 21 44331939 G A 21:45751822 0.993348 3165 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Inflammatory disease of cervix uteri 0.00012 1.0627 0.2763 Non-small cell lung cancer, squamous 0.00185 49.789 15.993 C21orf2 rs75087725 21:44333234:C:A 21 44333234 C A 21:45753117 0.996921 7634 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other puerperal infections 0.000203 0.7979 0.2147 Plantar fascial fibromatosis 0.001359 2.798 0.873 C21orf2 rs769070783 21:44339194:T:C 21 44339194 T C 21:45759077 0.990309 2640 start_lost unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Human immunodeficiency virus [HIV] disease 0.000287 2.0449 0.5639 Transient ischemic attack 0.0002741 5.754 1.581 TRPM2 rs146154065 21:44366787:G:A 21 44366787 G A 21:45786670 0.978389 1499 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Undefined dementia (more controls excluded) 0.00025 1.3831 0.3776 Other arthrosis 0.0005783 7.635 2.218 TRPM2 rs144380426 21:44426661:C:T 21 44426661 C T 21:45846544 0.904513 207 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyphaema and other vascular disorders of iris and ciliary body 0.000412 13.3598 3.7823 TSPEAR rs138480801 21:44499878:C:T 21 44499878 C T 21:45919761 0.876225 342 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mood disorders 0.000854 0.6646 0.1993 TSPEAR rs144625664 21:44522062:G:A 21 44522062 G A 21:45941945 0.993457 556 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pathological/recurrent dislocation and subluxation of joint, not elsewhere classified 0.000143 2.4597 0.6468 TSPEAR rs35028190 21:44525765:G:C 21 44525765 G C 21:45945648 0.985627 32820 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ulcerative colitis, NAS 0.000217 0.2222 0.0601 Myocarditis 8.163e-05 0.904 0.23 TSPEAR rs148095760 21:44533812:C:T 21 44533812 C T 21:45953695 0.991321 2010 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-small cell lung cancer, adenocarcinoma 0.000503 1.7414 0.5005 Other specified/unspecified spondylopathies 0.002304 40.303 13.223 TSPEAR rs144166142 21:44533890:C:T 21 44533890 C T 21:45953773 0.987188 402 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified mental disorder 0.000468 1.3541 0.387 KRTAP10-1 rs11910525 21:44540129:C:T 21 44540129 C T 21:45960012 0.849763 0.000440951 0 162 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Vulvovaginal ulceration/inflammation in other diseases 1.75e-05 11.1618 2.5993 KRTAP10-3 rs452472 21:44558709:T:C 21 44558709 T C 21:45978592 0.981494 83228 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Ovarian dysfunction 0.000273 -0.213 0.0585 Hydrocephalus 0.0006637 0.236 0.069 TSPEAR rs140542643 21:44567919:G:A 21 44567919 G A 21:45987803 0.986508 1755 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter not specified Prurigo nodularis 0.000258 3.073 0.841 Other diseases of pericardium 0.001449 58.833 18.473 TSPEAR rs150016894 21:44567937:C:T 21 44567937 C T 21:45987821 0.9942 303 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Acquired absence of organs, not elsewhere classified 0.000159 18.3945 4.8704 KRTAP10-7 rs200384147 21:44600667:G:A 21 44600667 G A 21:46020567 0.960213 233 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Papilloedema, unspecified 0.000549 12.5766 3.6394 TSPEAR rs150107590 21:44711471:G:A 21 44711471 G A 21:46131386 0.974865 384 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Meniere disease 0.000242 2.7787 0.7569 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified 3.731e-05 4.1 0.994 PTTG1IP rs144668992 21:44861255:G:C 21 44861255 G C 21:46281170 0.982389 4636 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Family history of malignant neoplasm 0.000463 0.8278 0.2364 Open wound of forearm 5.236e-06 11.588 2.544 ITGB2 rs2230531 21:44888885:C:T 21 44888885 C T 21:46308800 0.974586 6295 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leukocyte adhesion deficiency type 1;not provided Extreme obesity with alveolar hypoventilation 0.000672 1.1221 0.33 Other other unspecified disorders of the circulatory system 0.002085 7.29 2.369 ITGB2 rs5030672 21:44889397:G:A 21 44889397 G A 21:46309312 0.996209 15543 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leukocyte adhesion deficiency;Leukocyte adhesion deficiency type 1 Pneumothorax 0.000247 0.5295 0.1444 Benign neoplasm: Cerebral meninges 0.0003644 1.518 0.426 ITGB2 rs138659490 21:44891863:C:T 21 44891863 C T 21:46311778 0.939855 262 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Disorders of oesophagus in diseases classified elsewhere 0.00081 10.5444 3.1481 ITGB2 rs137959302 21:44900364:G:A 21 44900364 G A 21:46320279 0.990042 565 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pulmonary oedema 0.00381 6.6011 2.2814 ITGB2 rs760462 21:44908184:T:C 21 44908184 T C 21:46328099 0.983138 0.797538 234108 58898 pLoF recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bursitis of shoulder 5.82e-05 -0.4635 0.1153 Bursitis of shoulder 0.0001691 -0.254 0.068 ITGB2 rs35903905 21:44910314:C:T 21 44910314 C T 21:46330229 0.96916 5244 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leukocyte adhesion deficiency;Leukocyte adhesion deficiency type 1 Peripheral artery operations in Hilmo 0.00116 0.5689 0.1752 Hypermobility syndrome 0.001906 7.575 2.44 ADARB1 rs146201109 21:45204571:A:G 21 45204571 A G 21:46624486 0.993042 0.00682385 26 2481 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Other intervertebral disc disorders 9.27e-05 -0.3114 0.0797 Depression medications 0.001075 -2.187 0.669 POFUT2 rs73910608 21:45283495:C:T 21 45283495 C T 21:46703410 0.814976 220 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supplementary factors related to causes of morbidity and mortality classified elsewhere 0.00244 6.2716 2.0691 COL18A1 rs62000960 21:45456047:G:A 21 45456047 G A 21:46875961 0.995681 0.00611887 22 2226 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Dronedarone medication 3.17e-05 2.327 0.5593 Chronic iridocyclitis 0.0002292 20.197 5.482 COL18A1 rs199918230 21:45468430:C:T 21 45468430 C T 21:46888344 0.900408 0.000792078 0 291 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Later onset COPD 8.26e-05 2.5663 0.6519 COL18A1 rs199823547 21:45486919:C:T 21 45486919 C T 21:46906833 0.951962 388 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Patellar tendinitis 0.00168 8.1418 2.5916 COL18A1 rs62000962 21:45490296:G:A 21 45490296 G A 21:46910210 0.995476 46219 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter General symptoms and signs 0.000598 0.0412 0.012 Iliotibial band syndrome 7.511e-06 1.828 0.408 COL18A1 rs79980197 21:45491274:C:G 21 45491274 C G 21:46911188 0.988532 43181 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Urethral stricture 0.000864 0.2947 0.0885 Iliotibial band syndrome 1.993e-06 2.158 0.454 COL18A1 rs2230693 21:45493563:G:C 21 45493563 G C 21:46913477 0.97267 0.0014535 2 532 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes, wide definition 2.76e-05 0.8052 0.1921 SLC19A1 rs114832456 21:45498363:G:A 21 45498363 G A 21:46918277 0.990079 63013 LC unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Background retinopathy and retinal vascular changes 0.000774 -0.3806 0.1132 Iliotibial band syndrome 0.0002607 0.89 0.244 COL18A1 rs202106628 21:45504537:G:A 21 45504537 G A 21:46924451 0.929958 715 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Cushing syndrome 0.000648 7.2091 2.1138 COL18A1 rs113268527 21:45509458:G:A 21 45509458 G A 21:46929372 0.953861 1995 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Injury of muscle and tendon at ankle and foot level 0.00137 2.5557 0.7987 Motor neuron disease 0.0007548 86.724 25.743 COL18A1 rs144147445 21:45510178:G:A 21 45510178 G A 21:46930092 0.976309 2695 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Spinal osteochondrosis 0.000693 2.8752 0.8475 Disorders of lens 0.0004743 1.603 0.459 COL18A1 rs12483377 21:45511195:G:A 21 45511195 G A 21:46931109 0.998592 20457 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Knobloch syndrome 1;not provided;not specified Benign neoplasm: Skin of other and unspecified parts of face (other cancers excluded from controls) 0.000395 0.2922 0.0825 4.572e-05 0.834 0.205 SLC19A1 rs1051266 21:45537880:T:C 21 45537880 T C 21:46957794 0.999177 90330 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Diabetes, insuline treatment (Kela reimbursement) (more controls excluded) 0.000143 0.044 0.0116 Epilepsy 0.0005828 -0.056 0.016 COL6A1 rs143502850 21:45982706:C:A 21 45982706 C A 21:47402620 0.950039 203 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Benign neoplasm of thyroid gland (other cancers excluded from controls) 0.000268 9.1122 2.5006 COL6A1 rs11553519 21:45984388:G:A 21 45984388 G A 21:47404302 0.983139 25374 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not specified Other diseases of intestines 0.00148 -0.0572 0.018 Injuries to the wrist and hand 0.00201 0.176 0.057 COL6A1 rs138899581 21:45984391:T:C 21 45984391 T C 21:47404305 0.922583 260 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other/unspecified soft tissue disorders related to use, overuse and pressure 0.000407 7.3536 2.0799 COL6A1 rs139648899 21:45984450:C:G 21 45984450 C G 21:47404364 0.947615 388 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cough 0.000496 1.065 0.3058 COL6A1 rs144282452 21:45984465:G:C 21 45984465 G C 21:47404379 0.917598 315 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cough 0.000782 1.1596 0.3452 COL6A1 rs766184155 21:45986645:G:A 21 45986645 G A 21:47406559 0.991069 585 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Use of antiglaucoma preparations and miotics 0.000258 2.7128 0.7424 Episcleritis 0.0003191 237.259 65.918 COL6A1 rs200835287 21:45990405:G:A 21 45990405 G A 21:47410319 0.963347 0.00154605 6 562 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Collagen VI-related myopathy Hypothyroidism (congenital or acquired) 5.9e-05 0.7881 0.1962 Melanoma in situ 0.0004727 135.428 38.741 COL6A1 rs151158105 21:45992773:G:A 21 45992773 G A 21:47412687 0.988178 2607 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not specified Other abnormal immunological findings in serum 0.000561 2.6511 0.7685 Nystagmus and other irregular eye movements 0.002396 40.544 13.353 COL6A1 rs148962954 21:46002049:G:A 21 46002049 G A 21:47421963 0.963975 192 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Inflammatory disorders of breast 0.00134 5.5031 1.7153 COL6A1 rs777293815 21:46002343:G:A 21 46002343 G A 21:47422257 0.85639 530 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not provided Gastro-oesophageal reflux disease 0.000245 0.7574 0.2065 Injury of muscle and tendon at ankle and foot level 0.0008325 95.46 28.566 COL6A1 rs140547835 21:46002700:G:T 21 46002700 G T 21:47422614 0.989416 21340 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not provided;not specified Osteomyelitis 0.000169 -0.4498 0.1196 Ischaemic heart disease, wide definition 9.035e-05 0.268 0.068 COL6A1 rs11553518 21:46003126:A:G 21 46003126 A G 21:47423040 0.998703 0.00338879 0 1245 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental retardation 3.61e-05 2.7197 0.6584 COL6A1 rs1053312 21:46003475:G:A 21 46003475 G A 21:47423389 0.992983 72398 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Specific development disorders of scholastic skills 0.000767 0.2699 0.0802 Peripheral atherosclerosis 0.0007143 0.105 0.031 COL6A1 rs140534207 21:46003561:A:G 21 46003561 A G 21:47423475 0.96707 2783 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not provided;not specified Benign neoplasm: Spinal cord 0.00034 2.9271 0.8171 Venous complications and haemorrhoids in pregnancy 0.0007893 75.763 22.572 COL6A1 rs13051496 21:46003595:C:T 21 46003595 C T 21:47423509 0.989621 61727 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases caused by chlamydiae 0.000186 0.5558 0.1487 Other diseases caused by chlamydiae 0.0004834 0.775 0.222 COL6A2 rs141703710 21:46112179:G:A 21 46112179 G A 21:47532093 0.956733 2139 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;not provided;not specified Foreign body in respiratory tract 0.000979 1.445 0.4383 Adhesive middle ear disease 0.000317 214.023 59.434 COL6A2 rs35881321 21:46112542:G:A 21 46112542 G A 21:47532456 0.975007 2848 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;Myosclerosis;not provided;not specified Obstructive hydrocephalus 0.00194 2.6749 0.8632 Other and unspecified injuries of abdomen, lower back and pelvis 0.001051 76.783 23.435 COL6A2 rs148029276 21:46114063:G:A 21 46114063 G A 21:47533977 0.957401 179 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pre-eclampsia 0.000172 3.6626 0.9748 COL6A2 rs2839110 21:46119046:G:A 21 46119046 G A 21:47538960 0.998723 0.804732 238056 57593 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertrophy of breast 6.71e-05 -0.1745 0.0438 Hypertrophy of breast 4.251e-05 -0.105 0.026 COL6A2 rs535007570 21:46120518:G:A 21 46120518 G A 21:47540432 0.848313 202 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperprolactinaemia 0.00194 6.4056 2.0665 COL6A2 rs141166141 21:46122138:C:T 21 46122138 C T 21:47542052 0.992195 2498 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;Myosclerosis;not provided;not specified Lesion of plantar nerve 0.000193 1.2617 0.3385 Hypertrophy of (infrapatellar) fat pad 0.0005788 131.964 38.347 COL6A2 rs200667230 21:46122508:G:A 21 46122508 G A 21:47542422 0.968391 340 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Viral infections of the central nervous system 0.000369 3.8258 1.0742 COL6A2 rs138276378 21:46122887:G:A 21 46122887 G A 21:47542801 0.803281 0.000846517 0 311 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Mental retardation 6.03e-05 6.7256 1.6765 COL6A2 rs142709940 21:46124919:C:T 21 46124919 C T 21:47544833 0.950828 560 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;Myosclerosis;not provided;not specified Other specified disorders of external ear 0.00198 3.8458 1.2431 Toxic effect of other and unspecified substances 0.001689 44.464 14.16 COL6A2 rs2276101 21:46125432:C:T 21 46125432 C T 21:47545346 0.992869 9965 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Dislocation of lens 0.000206 1.5022 0.4047 Other and unspecified intracranial injuries 2.195e-05 8.774 2.067 COL6A2 rs149954350 21:46125455:A:AC 21 46125455 A AC 21:47545369 0.990612 23995 pLoF both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Collagen VI-related myopathy;Myosclerosis;not specified Dislocation of lens 0.000392 0.8571 0.2417 Dry age-related macular degeneration (includes geographic atrophy) 0.003271 0.515 0.175 COL6A2 rs1042917 21:46125854:G:A 21 46125854 G A 21:47545768 0.990194 0.60466 134980 87165 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diverticular disease of intestine 1.85e-05 0.067 0.0156 Diverticular disease of intestine 6.269e-05 0.045 0.011 COL6A2 rs150098077 21:46125985:C:T 21 46125985 C T 21:47545899 0.980949 1735 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;Myosclerosis;not provided Herpesviral keratitis and keratoconjunctivitis 0.000369 2.0022 0.5622 Other postsurgical states 6.67e-05 48.202 12.088 COL6A2 rs75120695 21:46126166:G:A 21 46126166 G A 21:47546080 0.93314 799 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases caused by chlamydiae 0.000104 7.8543 2.024 COL6A2 rs117668143 21:46131995:G:A 21 46131995 G A 21:47551909 0.945373 1858 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;Myosclerosis;not specified Convalescence 0.000312 1.5978 0.4432 0.002568 7.343 2.435 COL6A2 rs141233891 21:46132175:A:C 21 46132175 A C 21:47552089 0.815874 98 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Dislocation, sprain and strain of joints and ligaments at ankle and foot level 0.00127 2.9098 0.9031 COL6A2 rs117725825 21:46132287:C:T 21 46132287 C T 21:47552201 0.915072 792 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;Myosclerosis;not specified Other diseases caused by chlamydiae 0.00162 5.5484 1.7605 Ulcerative ileocolitis 0.001208 69.378 21.433 COL6A2 rs35548026 21:46132295:G:A 21 46132295 G A 21:47552209 0.986748 28377 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Collagen VI-related myopathy;GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Myosclerosis;not provided;not specified Oesophageal varices 0.000173 0.5309 0.1414 Cardiomyopathy, other and unspecified 0.003366 0.589 0.201 COL6A2 rs201188174 21:46132385:C:T 21 46132385 C T 21:47552299 0.925517 163 missense_variant both Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified acute lower respiratory infection 0.000722 3.3123 0.9796 COL6A2 rs117931394 21:46132472:G:A 21 46132472 G A 21:47552386 0.983811 0.0116117 54 4212 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bethlem myopathy 1;Collagen VI-related myopathy;GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Myosclerosis;not specified Degeneration of macula and posterior pole 1.47e-05 0.4437 0.1024 Injury of muscle and tendon at lower leg level 0.0009956 4.728 1.436 FTCD rs79622089 21:46136968:G:A 21 46136968 G A 21:47556882 0.984565 15199 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria not specified Alcohol related diseases, tilastokeskus definition, death only 0.000547 -0.4498 0.1301 Reactive arthropathies 0.00424 1.088 0.38 FTCD rs10432965 21:46137308:G:A 21 46137308 G A 21:47557222 0.982375 9922 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Collagen VI-related myopathy;GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;Myosclerosis Dislocation of lens 0.000209 1.5079 0.4067 Other and unspecified intracranial injuries 1.803e-05 9.075 2.116 FTCD rs1047179 21:46138559:G:C 21 46138559 G C 21:47558473 0.934453 88451 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chlocystitis 0.00107 0.1247 0.0381 Benign neoplasm: other/unspecified salivary gland (other cancers excluded from controls) 0.003137 -0.243 0.082 FTCD rs200283734 21:46138593:G:A 21 46138593 G A 21:47558507 0.902026 118 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Cholangitis (primary sclerosing, PSC), with reimbursement 202 0.000842 22.6958 6.7983 FTCD rs61735841 21:46138638:G:A 21 46138638 G A 21:47558552 0.98564 22228 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;not specified Other hearing loss 3e-04 0.1924 0.0532 Migraine, single triptan purchase ok & required. ICD-code if available is included 0.0002762 0.321 0.088 FTCD rs398124234 21:46145925:G:GC 21 46145925 G GC 21:47565839 0.88784 3317 pLoF recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY;not provided Use of antiglaucoma preparations and miotics 0.000311 0.9708 0.2692 Malignant neoplasm of respiratory system and intrathoracic organs 0.000257 9.254 2.532 FTCD rs61735836 21:46152973:C:T 21 46152973 C T 21:47572887 0.92232 20623 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY Left bundle-branch block 0.000414 0.4725 0.1338 Suppurative otitis media, unspecified 0.001164 2.049 0.631 SPATC1L rs14378 21:46161509:C:T 21 46161509 C T 21:47581423 0.984439 31956 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Vitamin D deficiency 0.000168 0.8424 0.2239 Traumatic subdural haemorrhage 0.0002961 0.56 0.155 SPATC1L rs113710653 21:46161921:C:T 21 46161921 C T 21:47581835 0.983577 31269 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Vitamin D deficiency 0.000205 0.8387 0.2259 Traumatic subdural haemorrhage 0.0006856 0.535 0.158 SPATC1L rs113146399 21:46162035:C:T 21 46162035 C T 21:47581949 0.984879 31214 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Vitamin D deficiency 0.000189 0.8452 0.2264 Traumatic subdural haemorrhage 0.0005093 0.554 0.159 LSS rs17293705 21:46191885:G:A 21 46191885 G A 21:47611799 0.981147 5343 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other shoulder lesions 0.000314 0.7681 0.2132 1.3e-05 9.057 2.077 LSS rs2254524 21:46194555:A:C 21 46194555 A C 21:47614469 0.999884 83636 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other local infections of skin and subcutaneous tissue 0.000481 0.1681 0.0481 0.0004547 0.059 0.017 LSS rs34115287 21:46215262:T:C 21 46215262 T C 21:47635176 0.9989 33505 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis,primary 0.000105 0.0829 0.0214 Astigmatism 3.139e-05 1.127 0.271 LSS rs2839158 21:46221880:C:T 21 46221880 C T 21:47641794 0.999224 33493 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis,primary 0.000113 0.0825 0.0214 Astigmatism 3.105e-05 1.128 0.271 MCM3AP rs17176709 21:46254837:G:A 21 46254837 G A 21:47674751 0.976965 1582 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinal breaks without detachment 0.000351 0.9752 0.2728 Gout, FINNGEN 0.0001511 14.874 3.925 MCM3AP rs779248881 21:46256907:C:T 21 46256907 C T 21:47676821 0.997868 641 missense_variant recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Spondylosis 0.00215 -0.6851 0.2233 MCM3AP rs144904756 21:46266123:A:C 21 46266123 A C 21:47686037 0.996353 3016 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified local infections of skin and subcutaneous tissue 0.000197 1.0793 0.2899 Colitis, primary sclerosing, strict definition 0.0006084 124.541 36.332 MCM3AP rs9975588 21:46284982:G:A 21 46284982 G A 21:47704896 0.999695 78970 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other obstructed labour 0.000677 -0.2313 0.0681 0.0004586 -0.083 0.024 C21orf58 rs71318063 21:46302071:A:ATGG 21 46302071 A ATGG 21:47721985 0.998149 84161 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of meninges (other cancers excluded from controls) 0.00175 -0.154 0.0492 Other and unspecified injuries of shoulder and upper arm 0.001458 0.332 0.104 PCNT rs61735825 21:46334596:A:G 21 46334596 A G 21:47754510 0.811208 0.000688645 0 253 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Arthrosis 1.75e-05 0.9278 0.2161 PCNT rs34500739 21:46346199:T:G 21 46346199 T G 21:47766113 0.999591 28370 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not specified Sensorineural hearing loss 0.000198 0.0909 0.0244 Vascular dementia (multiple infarctations) 0.0004369 2.194 0.624 PCNT rs2249060 21:46353263:C:T 21 46353263 C T 21:47773177 0.998532 48914 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to certain psychosocial circumstances 0.000816 0.194 0.058 Benign neoplasm: Colon (other cancers excluded from controls) 0.001097 0.151 0.046 PCNT rs149623054 21:46357070:A:G 21 46357070 A G 21:47776985 0.99125 2118 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not provided;not specified Puerperal sepsis 0.000346 1.5405 0.4306 Malignant neoplasm of urinary organs 0.0001308 7.497 1.96 PCNT rs2839223 21:46357148:G:A 21 46357148 G A 21:47777063 0.998513 48916 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to certain psychosocial circumstances 0.000818 -0.194 0.058 Foreign body in alimentary tract 0.00125 0.153 0.047 PCNT rs2839227 21:46366609:A:G 21 46366609 A G 21:47786524 0.997411 53833 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deficiency of other B group vitamins 0.000552 -0.429 0.1242 Benign neoplasm: Sigmoid colon (other cancers excluded from controls) 0.0001204 0.29 0.075 PCNT rs6518289 21:46367087:T:C 21 46367087 T C 21:47787002 0.997784 48890 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Problems related to certain psychosocial circumstances 0.000798 -0.1945 0.058 Foreign body in alimentary tract 0.0009565 0.156 0.047 PCNT rs7279204 21:46388764:C:T 21 46388764 C T 21:47808679 0.997376 49398 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Colon (other cancers excluded from controls) 0.000855 0.093 0.0279 Benign neoplasm: Colon (other cancers excluded from controls) 0.001041 0.151 0.046 PCNT rs35044802 21:46388857:G:A 21 46388857 G A 21:47808772 0.996186 3722 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not specified Hypersensitivity pneumonitis due to organic dust 0.000975 1.9532 0.5923 Varicose veins 0.001321 1.209 0.376 PCNT rs117987006 21:46389339:C:T 21 46389339 C T 21:47809254 0.97762 2581 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not specified Melanocytic naevi of trunk (other cancers excluded from controls) 0.000378 0.992 0.2791 Benign neoplasm: Spinal cord (other cancers excluded from controls) 3.244e-06 136.699 29.368 PCNT rs62224222 21:46397333:C:T 21 46397333 C T 21:47817247 0.987566 0.00282535 4 1034 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not provided;not specified Asthma, unspecified (mode) 5.11e-05 0.716 0.1768 Retinoschisis and retinal cysts 0.0006386 105.891 31.011 PCNT rs139432601 21:46397393:C:G 21 46397393 C G 21:47817307 0.927269 409 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sicca syndrome [Sjogren] 0.000369 2.8471 0.7994 PCNT rs766688176 21:46397426:G:A 21 46397426 G A 21:47817340 0.846417 163 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter malignant neoplasm of male genital organs (other cancers excluded from controls) 0.00101 1.9785 0.6018 PCNT rs180775012 21:46399680:A:T 21 46399680 A T 21:47819594 0.953896 317 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic sinusitis 0.000581 1.155 0.3357 PCNT rs6518291 21:46401674:A:G 21 46401674 A G 21:47821588 0.998464 0.262747 25498 71032 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified/other endometriosis 4.84e-05 0.2065 0.0508 Congenital malformations of eye, ear, face and neck 2.54e-05 0.314 0.075 PCNT rs35940413 21:46411595:A:G 21 46411595 A G 21:47831509 0.998945 0.115415 5100 37302 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sensorineural hearing loss 7.41e-05 0.0845 0.0213 Other arthritis (FG) 5.305e-06 0.336 0.074 PCNT rs548190846 21:46411780:C:T 21 46411780 C T 21:47831694 0.991956 2511 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism Burn and corrosion confined to eye and adnexa 0.000572 1.9766 0.5738 Urehtritis and urethral syndrome 0.001085 76.5 23.412 PCNT rs776232288 21:46411781:G:T 21 46411781 G T 21:47831695 0.991956 2511 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion confined to eye and adnexa 0.000572 1.9766 0.5738 Urehtritis and urethral syndrome 0.001085 76.5 23.412 PCNT rs200426591 21:46411783:G:A 21 46411783 G A 21:47831697 0.995423 5743 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Localized swelling, mass and lump of skin and subcutaneous tissue 0.000128 0.3708 0.0968 Retinal haemorrhage 0.000375 17 4.779 PCNT rs184420466 21:46411844:C:T 21 46411844 C T 21:47831758 0.879744 659 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Perforation of tympanic membrane 0.000337 2.1224 0.592 Benign neoplasm: Brain, supratentorial 0.0002147 320.95 86.717 PCNT rs34268261 21:46411931:G:A 21 46411931 G A 21:47831845 0.999147 28355 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not specified Sensorineural hearing loss 0.000171 0.0919 0.0245 Vascular dementia (multiple infarctations) 0.000438 2.194 0.624 PCNT rs2839245 21:46416208:T:C 21 46416208 T C 21:47836122 0.999241 34372 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of eye, ear, face and neck 0.000105 0.3275 0.0844 Other arthritis (FG) 6.52e-05 0.316 0.079 PCNT rs35978208 21:46416292:A:C 21 46416292 A C 21:47836206 0.999165 34370 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of eye, ear, face and neck 0.000104 0.3277 0.0844 Other arthritis (FG) 6.179e-05 0.317 0.079 PCNT rs1044998 21:46416481:T:G 21 46416481 T G 21:47836395 0.996705 34532 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of eye, ear, face and neck 0.000112 0.3254 0.0842 Other arthritis (FG) 0.0001014 0.304 0.078 PCNT rs34151633 21:46416489:T:C 21 46416489 T C 21:47836403 0.992066 3718 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not specified Hypersensitivity pneumonitis due to organic dust 0.000922 1.9751 0.5961 Varicose veins 0.001688 1.158 0.369 PCNT rs144471022 21:46416552:C:T 21 46416552 C T 21:47836466 0.964884 7847 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not provided;not specified Carcinoma in situ of skin of lower limb, including hip (other cancers excluded from controls) 0.000245 1.9351 0.5277 Wide developmental disorders 0.0001401 8.556 2.247 PCNT rs35346764 21:46416633:T:C 21 46416633 T C 21:47836547 0.999242 34322 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of eye, ear, face and neck 0.000133 0.3225 0.0844 Other arthritis (FG) 6.084e-05 0.318 0.079 PCNT rs61735812 21:46416657:C:T 21 46416657 C T 21:47836571 0.986192 7010 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not specified Abnormalities of heart beat 0.00115 0.2632 0.081 Benign neoplasm: Spinal cord 0.000387 17.198 4.846 PCNT rs2070425 21:46416739:C:T 21 46416739 C T 21:47836653 0.98629 67365 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other malignant neoplasms of skin (=non-melanoma skin cancer) (other cancers excluded from controls) 0.000754 -0.0685 0.0203 Injury of muscle and tendon at forearm level 0.0004527 0.594 0.169 PCNT rs7277175 21:46422027:A:G 21 46422027 A G 21:47841941 0.999266 34382 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of eye, ear, face and neck 0.000105 0.3275 0.0844 Other arthritis (FG) 5.902e-05 0.318 0.079 PCNT rs61735814 21:46422075:C:T 21 46422075 C T 21:47841989 0.999109 28447 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not specified Sensorineural hearing loss 0.000139 0.093 0.0244 Vascular dementia (multiple infarctations) 0.0004467 2.184 0.622 PCNT rs2839256 21:46428545:G:A 21 46428545 G A 21:47848459 0.999256 34375 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of eye, ear, face and neck 0.000105 0.3275 0.0844 Other arthritis (FG) 6.382e-05 0.316 0.079 PCNT rs12481791 21:46428552:C:T 21 46428552 C T 21:47848466 0.980948 0.0196223 148 7061 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not specified Injuries to the hip and thigh 1.32e-06 0.3467 0.0717 Malignant neoplasm of corpus uteri 0.0001456 5.31 1.398 PCNT rs2070426 21:46430570:G:C 21 46430570 G C 21:47850484 0.997962 91217 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ascites 0.000208 0.2322 0.0626 Other respiratory disorders and diseases 0.0008769 0.088 0.027 PCNT rs743346 21:46431722:G:A 21 46431722 G A 21:47851636 0.99902 28435 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not specified Sensorineural hearing loss 0.000148 0.0926 0.0244 Vascular dementia (multiple infarctations) 0.0004555 2.175 0.62 PCNT rs2073376 21:46431839:A:G 21 46431839 A G 21:47851753 0.996846 85878 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ascites 0.00055 0.2228 0.0645 Other respiratory disorders and diseases 0.0004035 0.085 0.024 PCNT rs33956783 21:46432135:G:A 21 46432135 G A 21:47852049 0.840878 473 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Unspecified haematuria 0.000205 1.1332 0.3052 PCNT rs35147998 21:46432171:G:A 21 46432171 G A 21:47852085 0.998389 26269 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Actinic keratosis 0.000126 0.1814 0.0473 Actinic keratosis 0.0002627 0.431 0.118 PCNT rs4818842 21:46438335:A:G 21 46438335 A G 21:47858248 0.984256 14030 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microcephalic Osteodysplastic Primordial Dwarfism;not specified Tuberculosis 0.000213 0.4501 0.1216 Conduction disorders 0.0003133 0.945 0.262 PCNT rs2073380 21:46443844:A:C 21 46443844 A C 21:47863757 0.999062 68220 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pure hypercholesterolaemia 0.000233 -0.0788 0.0214 Neovascular glaucoma 0.002832 0.32 0.107 PRMT2 rs142055128 21:46661896:G:A 21 46661896 G A 21:48081808 0.940722 0.0180273 130 6493 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma and opportunit respiratory infection 5.25e-05 1.1946 0.2954 Use of antiglaucoma preparations and miotics 3.112e-05 5.042 1.211 CCT8L2 rs41277596 22:16591521:G:T 22 16591521 G T 22:17072411 0.958082 0.0132911 14 4869 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Von Willebrand disease 8.44e-05 2.77 0.7046 Other female pelvic inflammatory diseases 0.0003258 8.012 2.229 IL17RA rs143652002 22:17085111:C:T 22 17085111 C T 22:17566001 0.855161 707 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Vagina 0.00112 5.9629 1.8297 IL17RA rs143897670 22:17107727:G:C 22 17107727 G C 22:17588617 0.996095 0.00177469 6 646 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Familial Candidiasis, Recessive Other articular cartilage disorders 7.36e-05 5.1889 1.3089 Coxarthrosis, 4.064e-05 4.763 1.161 IL17RA rs879577 22:17108319:C:T 22 17108319 C T 22:17589209 0.993915 66150 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinal osteochondrosis 0.000347 0.5147 0.1439 Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 0.0009792 0.2 0.061 IL17RA rs146478431 22:17108393:G:T 22 17108393 G T 22:17589283 0.997924 1322 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Outcome of delivery 0.000407 0.6794 0.1922 IL17RA rs369912474 22:17108619:T:C 22 17108619 T C 22:17589509 0.801361 147 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture at wrist and hand level 0.00102 2.0564 0.6258 IL17RA rs12484684 22:17108904:C:A 22 17108904 C A 22:17589794 0.998596 13991 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Familial Candidiasis, Recessive Other/unspecified cytomegaloviral diseases 0.000819 1.0735 0.3208 Problems related to medical facilities and other health care 0.002485 1.78 0.588 IL17RA rs41323645 22:17109290:G:A 22 17109290 G A 22:17590180 0.985277 0.104013 4010 34203 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of oesophagus 2.98e-05 0.2869 0.0687 Vitamin B12 deficiency anaemia 5.942e-05 0.594 0.148 CECR5 rs35327402 22:17138047:G:A 22 17138047 G A 22:17618937 0.949877 920 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Other/unspecified site 0.000642 5.1855 1.5193 CECR1 rs74317375 22:17188375:C:T 22 17188375 C T 22:17669265 0.971809 318 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified/unspecified soft tissue disorders 0.000289 4.8799 1.3461 CECR1 rs139750129 22:17188449:T:C 22 17188449 T C 22:17669339 0.850223 0.000351127 2 127 pLoF unknown Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Follicular cysts of skin and subcutaneous tissue 6.86e-05 4.2906 1.0778 CECR1 rs77563738 22:17207107:C:T 22 17207107 C T 22:17687997 0.969272 534 missense_variant unknown Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Scar conditions and fibrosis of skin 0.000412 4.5664 1.2928 MICAL3 rs113505363 22:17893880:C:T 22 17893880 C T 22:18376646 0.993216 0.000400122 0 147 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified jaundice 3.71e-05 9.9089 2.4021 PEX26 rs12484657 22:18083522:C:G 22 18083522 C G 22:18566288 0.966745 0.0026076 6 952 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Secondary polycythaemia 5.9e-06 8.2106 1.8125 Other and unspecified acne 0.000719 102.207 30.219 PEX26 rs17851387 22:18088068:G:A 22 18088068 G A 22:18570834 0.986237 595 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Small intestine (other cancers excluded from controls) 0.000387 3.7471 1.0559 TUBA8 rs2234331 22:18126361:C:T 22 18126361 C T 22:18609128 0.947495 1711 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided;not specified Thyroiditis, unspecified 0.00047 3.8402 1.098 Congenital malformations of breast 0.000568 136.738 39.675 TUBA8 rs145621219 22:18126726:G:A 22 18126726 G A 22:18609493 0.988696 8689 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Cardiovascular diseases (excluding rheumatic etc) 0.000398 0.0992 0.028 Postmenopausal osteoporosis with pathological fracture 0.0003144 4.068 1.129 SLC25A1 rs113123350 22:19176478:T:C 22 19176478 T C 22:19163991 0.994009 717 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Fracture of forearm 0.000313 -0.7119 0.1975 Hirsutism 0.0002045 328.754 88.531 CLTCL1 rs112636081 22:19222080:C:T 22 19222080 C T 22:19209603 0.990024 7963 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in other circumstances 0.000913 -0.2547 0.0768 Meniere disease 0.0004763 2.726 0.78 CLTCL1 rs181639433 22:19223944:T:A 22 19223944 T A 22:19211467 0.980003 741 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dementia in other diseases classified elsewhere 0.00197 2.6255 0.8485 CLTCL1 rs45489597 22:19229899:C:T 22 19229899 C T 22:19217422 0.997963 4242 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the musculoskeletal system and connective tissue 0.000965 -0.1173 0.0355 Atypical mycobacterium lung infection 0.003112 32.678 11.053 CLTCL1 rs147685377 22:19239351:T:C 22 19239351 T C 22:19226874 0.979234 233 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nonspesific lymphadenitis 0.000189 5.3015 1.4202 CLTCL1 rs143629284 22:19254165:C:T 22 19254165 C T 22:19241688 0.961653 299 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Orchitis and epididymitis 0.00089 3.6251 1.0909 HIRA rs143858430 22:19385685:C:T 22 19385685 C T 22:19373208 0.969586 2102 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of oesophagus in diseases classified elsewhere 0.000476 3.1306 0.8961 Secondary malignant neoplasm of other and unspecified sites 0.0006553 118.73 34.843 CDC45 rs147730653 22:19479987:C:G 22 19479987 C G 22:19467510 0.986615 211 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Congenital musculoskeletal deformities of head, face, spine and chest 0.00248 14.0025 4.6283 CDC45 rs13447203 22:19482726:G:A 22 19482726 G A 22:19470249 0.982344 4108 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acne vulgaris 0.000491 0.8163 0.2342 Childhood asthma (age<16) 0.0004364 2.41 0.685 CDC45 rs151216373 22:19494512:C:G 22 19494512 C G 22:19482035 0.883174 312 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on antenatal screening of mother 0.00016 6.1885 1.639 GP1BB rs375285857 22:19723962:G:A 22 19723962 G A 22:19711485 0.901679 254 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified types of non-Hodgkin lymphoma 0.000936 6.4604 1.9523 TBX1 rs4819522 22:19779259:C:T 22 19779259 C T 22:19766782 0.991694 59149 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carrier of infectious disease 0.000428 0.4817 0.1368 Other and unspecified glaucoma 0.0002719 0.427 0.117 TXNRD2 rs192869629 22:19880654:C:T 22 19880654 C T 22:19868177 0.98137 6879 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Primary dilated cardiomyopathy;not specified All anxiety disorders 0.00147 -0.1904 0.0599 Other osteochondropathies 0.002316 3.631 1.192 TXNRD2 rs1139793 22:19880695:A:G 22 19880695 A G 22:19868218 0.997403 78021 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 2 diabetes without complications 0.000159 0.0644 0.0171 Type 2 diabetes without complications 0.0001132 0.043 0.011 TXNRD2 rs5992495 22:19895461:T:G 22 19895461 T G 22:19882984 0.993602 43387 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of muscle and tendon at hip and thigh level 0.000286 0.2667 0.0735 Adjustment and management of implanted device 0.0009884 -0.323 0.098 TXNRD2 rs5748469 22:19919576:C:A 22 19919576 C A 22:19907099 0.991212 0.459212 78062 90647 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of lacrimal system and orbit in diseases classified elsewhere 6.54e-05 -0.355 0.0889 Benign neoplasm of other and ill-defined parts of digestive system (other cancers excluded from controls) 0.001576 -0.094 0.03 TXNRD2 rs148092370 22:19931092:T:A 22 19931092 T A 22:19918615 0.975116 1229 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiovascular phenotype;Primary dilated cardiomyopathy;not specified Inflammatory diseases of prostate (prostatitis) 0.000787 1.1714 0.3489 Inguinal or femoral hernia, bilateral 1.948e-07 36.037 6.925 COMT rs6267 22:19962740:G:T 22 19962740 G T 22:19950263 0.999011 14029 missense_variant dominant risk factor risk factor no assertion criteria provided no_Criteria Schizophrenia, susceptibility to Infections of genitourinary tract in pregnancy 0.000308 0.6099 0.169 Other specified congenital malformation syndromes affecting multiple systems 0.0004775 6.342 1.816 COMT rs4680 22:19963748:G:A 22 19963748 G A 22:19951271 0.99985 91108 missense_variant dominant drug response drug response reviewed by expert panel Criteria_multSubmitter Cervical disc disorders 0.000313 0.0726 0.0202 Diseases of the respiratory system 0.0006941 0.018 0.005 ARVCF rs34445280 22:19971933:G:A 22 19971933 G A 22:19959456 0.999427 3644 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effects of substances chiefly nonmedicinal as to source 3e-04 0.725 0.2005 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 1.951e-05 62.802 14.706 ARVCF rs34638476 22:19971941:C:T 22 19971941 C T 22:19959464 0.999439 3709 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Toxic effects of substances chiefly nonmedicinal as to source 0.000137 0.7638 0.2002 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 3.588e-05 48.316 11.691 ARVCF rs148872323 22:19974169:G:C 22 19974169 G C 22:19961692 0.969017 508 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Deficiency of other B group vitamins 0.00135 5.6413 1.7605 ARVCF rs16982871 22:19978040:C:T 22 19978040 C T 22:19965563 0.987849 1491 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Adverse effects, not elsewhere classified 0.000181 0.9705 0.2592 Malignant neoplasm of eye, brain and central nervous system 0.000142 22.677 5.96 ARVCF rs113625788 22:19981659:C:T 22 19981659 C T 22:19969182 0.998526 1037 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-small cell lung cancer, adenocarcinoma 0.000496 2.4236 0.6958 Other cataract 3.169e-09 7.954 1.343 TANGO2 rs142442293 22:20055981:G:A 22 20055981 G A 22:20043504 0.985786 4287 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Congenital malformations of genital organs 0.0023 -0.6508 0.2135 Benign neoplasm of bone and articular cartilage 9.744e-05 10.477 2.689 DGCR6L rs1210827 22:20319694:G:A 22 20319694 G A 22:20307217 0.968791 690 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pustulosis palmaris et plantaris 0.000107 4.3795 1.1302 SCARF2 rs874101 22:20425478:G:C 22 20425478 G C 22:20779768 0.994253 0.674173 167034 80649 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Statin medication 7.26e-05 -0.0412 0.0104 Cardiomyopathy 3.927e-05 -0.091 0.022 SCARF2 rs874100 22:20425532:G:C 22 20425532 G C 22:20779822 0.996411 0.411176 62458 88603 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Type 2 diabetes, definitions combined 3.61e-06 -0.0556 0.012 Haemorrhagic and haematological disorders of fetus and newborn 4.627e-05 0.579 0.142 SCARF2 rs9680797 22:20426009:G:A 22 20426009 G A 22:20780296 0.982849 0.00942328 40 3422 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Marden Walker like syndrome Ulcer of oesophagus 7.89e-07 1.45 0.2936 Abnormal findings on examination of other body fluids, substances and tissues, without diagnosis 9.122e-05 5.491 1.403 SERPIND1 rs5903 22:20779543:C:A 22 20779543 C A 22:21133831 0.92955 0.00318464 6 1164 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of vocal cords and larynx+other diseases of upper respiratory tract, no elsewhere classified 6.89e-05 0.6051 0.152 Hyperaldosteronism 0.000344 203.295 56.791 SERPIND1 rs5907 22:20779935:G:A 22 20779935 G A 22:21134223 0.994812 1064 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Heparin cofactor II deficiency Spondylosis 0.000177 0.6462 0.1723 9.536e-05 2.961 0.759 PI4KA rs768608907 22:20858678:GCCGCCT:G 22 20858678 GCCGCCT G 22:21212966 0.963252 200 inframe_indel recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other puerperal infections 0.000296 6.0388 1.6688 SNAP29 rs116892729 22:20881101:A:G 22 20881101 A G 22:21235389 0.996729 868 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome;not provided Atrial fibrillation and flutter 0.000932 -0.5525 0.1669 Nonspesific lymphadenitis 0.001409 61.92 19.394 LZTR1 rs13054014 22:20983036:G:A 22 20983036 G A 22:21337325 0.977003 68141 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bicipital tendinitis 0.00128 0.2293 0.0712 Endometriosis of uterus 0.0005242 0.176 0.051 LZTR1 rs541944601 22:20989676:GGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA:G 22 20989676 GGAGGAGGTGAGGGGCGTGGGGAGCCAGGGCGCAGGTA G 22:21343965 0.850724 321 pLoF both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Varicose veins of other sites 0.000281 4.0031 1.1021 LZTR1 rs777243508 22:20993977:G:A 22 20993977 G A 22:21348266 0.965971 597 pLoF both Pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Statin medication 0.000252 -0.4458 0.1218 LZTR1 rs139368531 22:20994665:G:A 22 20994665 G A 22:21348954 0.981451 868 missense_variant both Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications following abortion and ectopic and molar pregnancy 0.00114 5.9796 1.8384 Tobacco use 0.0003793 193.453 54.431 TOP3B rs143308485 22:21963992:G:A 22 21963992 G A 22:22318364 0.950495 268 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the head 0.000213 0.8203 0.2215 BCR rs149933313 22:23181415:C:T 22 23181415 C T 22:23523602 0.982443 5663 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Perforation of tympanic membrane 0.00029 0.6433 0.1775 Fever of other and unknown origin 0.001109 1.553 0.476 BCR rs148370562 22:23181457:G:A 22 23181457 G A 22:23523644 0.988257 4723 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Right bundle-branch block 0.00079 1.316 0.3921 Malignant neoplasm of oesophagus 7.114e-05 41.947 10.56 BCR rs56321828 22:23182199:C:G 22 23182199 C G 22:23524386 0.968074 1135 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Coxarthrosis [arthrosis of hip](FG) 0.00117 -0.5483 0.1689 BCR rs2229038 22:23292603:G:A 22 23292603 G A 22:23634790 0.962582 1716 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Nystagmus and other irregular eye movements 0.000389 4.5869 1.293 CR(E)ST syndrome 0.0007528 104.515 31.017 IGLL1 rs1064421 22:23573396:T:C 22 23573396 T C 22:23915583 0.860884 2178 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Psychiatric comorbidites (Asthma/COPD) 0.000428 -0.264 0.075 Injuries to the hip and thigh 0.001768 2.812 0.899 IGLL1 rs111903752 22:23573423:A:T 22 23573423 A T 22:23915610 0.957443 14988 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Agammaglobulinemia 2, autosomal recessive;not specified Urehtritis and urethral syndrome 0.000543 0.8299 0.24 Decubitus ulcer and pressure area 0.0001061 3.335 0.86 IGLL1 rs139571703 22:23573433:C:T 22 23573433 C T 22:23915620 0.912863 13517 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Agammaglobulinemia 2, autosomal recessive Other maternal disorders predominantly related to pregnancy 0.000498 -0.1495 0.0429 Temporomandibular joint disorders 0.0003319 1.086 0.303 IGLL1 rs145176864 22:23573444:G:A 22 23573444 G A 22:23915631 0.83935 2427 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Agammaglobulinemia 2, autosomal recessive;not specified Neurological diseases 0.000331 -0.1694 0.0472 Cushing syndrome 1.356e-05 78.863 18.126 IGLL1 rs143780139 22:23573558:G:A 22 23573558 G A 22:23915745 0.93612 0.000713143 0 262 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of small intestine (other cancers excluded from controls) 5.1e-05 14.0276 3.4627 IGLL1 rs146831457 22:23573566:G:C 22 23573566 G C 22:23915753 0.833538 205 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma mixed form (mode) 0.000677 6.3654 1.8729 IGLL1 rs140494226 22:23573572:G:A 22 23573572 G A 22:23915759 0.828776 230 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma mixed form (mode) 0.00129 5.3651 1.6668 IGLL1 rs149986237 22:23573574:C:T 22 23573574 C T 22:23915761 0.828776 230 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma mixed form (mode) 0.00129 5.3651 1.6668 IGLL1 rs116041505 22:23575005:G:T 22 23575005 G T 22:23917192 0.956797 900 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Osteomyelitis 0.000879 2.1786 0.6549 IGLL1 rs116760479 22:23580094:C:T 22 23580094 C T 22:23922281 0.90243 1857 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not provided Other heart diseases 0.000148 -0.2303 0.0607 Other prurigo 0.0008026 98.296 29.325 CHCHD10 rs111527940 22:23767401:C:T 22 23767401 C T 22:24109588 0.93757 3193 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Myopathy, isolated mitochondrial, autosomal dominant;Spinal muscular atrophy, jokela type Other specific arthropathies 0.00024 2.2131 0.6025 Hypothermia 0.002295 41.255 13.53 CHCHD10 rs551521196 22:23767535:G:A 22 23767535 G A 22:24109722 0.898191 657 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;Myopathy, isolated mitochondrial, autosomal dominant;Spinal muscular atrophy, jokela type;not specified Unspecified lump in breast 0.00119 1.3629 0.4206 Benign neoplasm: Long bones of lower limb 0.001416 62.612 19.619 SMARCB1 rs199737164 22:23801105:C:G 22 23801105 C G 22:24143292 0.985569 348 missense_variant dominant Uncertain significance VUS no assertion criteria provided no_Criteria Hordeolum and other deep inflammation of eyelid 0.00482 3.793 1.3457 CABIN1 rs144524781 22:24178086:G:A 22 24178086 G A 22:24574054 0.9846 1143 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of sclera, cornea, iris and ciliary body 0.000131 0.597 0.1561 Other and unspecified disorders involving the immune mechanism, not elsewhere classified 0.0002156 239.857 64.827 SPECC1L rs35783914 22:24313452:C:T 22 24313452 C T 22:24709420 0.985089 2279 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of optic nerve, not elsewhere classified 0.000113 3.1527 0.8166 Otitis externa 0.0009863 9.889 3.002 SPECC1L rs56168869 22:24321542:C:T 22 24321542 C T 22:24717510 0.98456 8739 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Type 1 diabetes, wide definition, subgroup 2 0.00162 1.1336 0.3596 Placenta praevia 6.848e-05 6.285 1.579 SPECC1L rs55723436 22:24322440:G:A 22 24322440 G A 22:24718408 0.947104 1100 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Type 1 diabetes, wide definition 0.000694 -0.7159 0.211 Subjective visual disturbances 0.0006992 10.592 3.125 SPECC1L rs5996694 22:24365530:C:T 22 24365530 C T 22:24761498 0.994137 5358 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of heart and great arteries 0.000769 0.5195 0.1544 Congenital malformations of cardiac septa 0.0007298 5.112 1.513 UPB1 rs145766755 22:24520387:C:A 22 24520387 C A 22:24916355 0.996525 2031 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Complications following abortion and ectopic and molar pregnancy 0.000411 3.7443 1.0598 Other and specified injuries of hip and thigh 0.001747 53.135 16.975 UPB1 rs143493067 22:24523618:G:A 22 24523618 G A 22:24919586 0.992274 592 pLoF recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sacrococcygeal disorders, not elsewhere classified 0.000627 4.0832 1.194 CRYBB3 rs147831812 22:25201434:C:G 22 25201434 C G 22:25597401 0.958088 1213 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cataract, congenital nuclear, autosomal recessive 2;Congenital nuclear cataract Granulomatous disorders of skin and subcutaneous tissue 0.00463 2.4784 0.8751 Other spirochaetal diseases 0.004985 20.983 7.473 CRYBB3 rs17670506 22:25203882:G:A 22 25203882 G A 22:25599849 0.985053 13092 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cataract, congenital nuclear, autosomal recessive 2;Congenital nuclear cataract;not specified Idiopathic urticaria 0.00037 1.1299 0.3174 Viral pneumonia (known virus, not influenza) 0.000191 3.445 0.923 CRYBB3 rs9608378 22:25205229:C:G 22 25205229 C G 22:25601196 0.985636 88764 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.000148 -0.0532 0.014 Maternal care related to the fetus and amniotic cavity and possible delivery problems 0.0008336 -0.034 0.01 CRYBB2 rs16986560 22:25227872:G:T 22 25227872 G T 22:25623839 0.987016 7868 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cataract 3, multiple types;not specified Paranoid personality disorder 0.000835 1.007 0.3014 0.0008404 -0.442 0.133 MYO18B rs144564568 22:25843817:C:A 22 25843817 C A 22:26239784 0.974646 490 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pneumonia (excl. viral and due to other infectious organisms not elsewhere classified) 0.000876 0.5087 0.1529 MYO18B rs147898739 22:25992432:C:T 22 25992432 C T 22:26388398 0.947145 1988 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral hepatitis 0.000619 1.2071 0.3526 Other and unspecified mental retardation 0.0003977 166.732 47.078 MYO18B rs149103381 22:26027319:C:T 22 26027319 C T 22:26423285 0.924645 1279 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of mineral metabolism 0.000354 1.9138 0.5357 Acute appendicitis, no complications 4.44e-05 11.179 2.738 HPS4 rs1894704 22:26457939:C:A 22 26457939 C A 22:26853905 0.998682 0.970701 346238 10386 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behavioural disorders due to alcohol, excluding acute intoxication 3.55e-05 -0.2309 0.0558 Mental and behavioural disorders due to alcohol, excluding acute intoxication 1.437e-05 -0.124 0.029 HPS4 rs1894706 22:26458475:G:A 22 26458475 G A 22:26854441 0.998572 0.970729 346248 10386 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behavioural disorders due to alcohol, excluding acute intoxication 3.62e-05 -0.231 0.0559 Mental and behavioural disorders due to alcohol, excluding acute intoxication 1.606e-05 -0.124 0.029 HPS4 rs5752330 22:26463976:C:T 22 26463976 C T 22:26859942 0.99905 18454 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyarhtrosis 0.000301 0.2714 0.0751 0.0002814 -0.467 0.129 HPS4 rs148134252 22:26464087:A:G 22 26464087 A G 22:26860053 0.99574 689 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hermansky-Pudlak syndrome;not provided Postpartum care and examination 0.000405 1.3341 0.3772 Benign neoplasm of urinary organs 0.0006306 124.144 36.32 HPS4 rs2014410 22:26464303:G:C 22 26464303 G C 22:26860269 0.999525 85908 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spinal stenosis 0.00089 -0.0651 0.0196 Other/unspecified synovitis and tenosynovitis 0.001305 0.121 0.038 HPS4 rs34962745 22:26465507:T:A 22 26465507 T A 22:26861473 0.867238 0.0009935 4 361 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hermansky-Pudlak syndrome;Oculocutaneous albinism;not specified Injuries to the ankle and foot 8.31e-06 1.1904 0.2671 Unspecified acute lower respiratory infection 0.003905 21.865 7.577 HPS4 rs713998 22:26466246:T:C 22 26466246 T C 22:26862212 0.99905 18461 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polyarhtrosis 0.000296 0.2718 0.0751 0.0002827 -0.467 0.129 HPS4 rs149830675 22:26477019:T:C 22 26477019 T C 22:26872985 0.964475 263 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other inflammation of eyelid 0.00169 3.6668 1.168 SRRD rs13340064 22:26483980:GGAGGCGGCGCCCCGGGGGAGA:G 22 26483980 GGAGGCGGCGCCCCGGGGGAGA G 22:26879946 0.981257 17178 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Polyarhtrosis 0.000196 0.2908 0.0781 Polyarhtrosis 0.0002127 0.151 0.041 TFIP11 rs34764403 22:26510250:C:T 22 26510250 C T 22:26906216 0.996368 682 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acquired haemolytic anaemia 0.000463 5.6315 1.6083 CRYBA4 rs142090709 22:26623233:G:C 22 26623233 G C 22:27019197 0.965695 338 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of breast 0.000463 1.0625 0.3035 CRYBA4 rs35520672 22:26623300:G:A 22 26623300 G A 22:27019264 0.998986 0.0388418 572 13698 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cataract 23, multiple types;not specified Medication related adverse effects (Asthma/COPD) 9.19e-05 -0.1076 0.0275 0.001207 -0.478 0.148 TTC28 rs56085644 22:27982363:C:T 22 27982363 C T 22:28378351 0.964107 285 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Visual impairment including blindness (binocular or monocular) 0.000677 4.0958 1.2051 TTC28 rs143432636 22:27983132:G:A 22 27983132 G A 22:28379120 0.986359 990 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ascites 0.000448 2.4616 0.7014 CHEK2 rs200050883 22:28695190:C:A 22 28695190 C A 22:29091178 0.969171 0.000786634 0 289 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other dorsopathies, not elsewhere classified 2.55e-05 0.7554 0.1794 CHEK2 rs555607708 22:28695868:AG:A 22 28695868 AG A 22:29091856 0.982805 0.00733557 32 2663 pLoF dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Astrocytoma;B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified;Breast and colorectal cancer, susceptibility to;Breast cancer, susceptibility to;CHEK2-Related Cancer Susceptibility;Colitis;Diffuse intrinsic pontine glioma;Familial cancer of breast;Familial cancer of breast;Hematochezia;Hereditary cancer;Hereditary cancer-predisposing syndrome;Inflammation of the large intestine;Leiomyosarcoma;Li-Fraumeni syndrome;Li-Fraumeni syndrome 2;Malignant tumor of prostate;Neoplasm of the breast;Neoplasm of the breast;Osteosarcoma;Thrombocytopenia;not provided Malignant neoplasm of breast (other cancers excluded from controls) 1.85e-21 1.2242 0.1287 Malignant neoplasm of digestive organs (other cancers excluded from controls) 4.878e-07 7.177 1.426 CHEK2 rs121908702 22:28711986:C:T 22 28711986 C T 22:29107974 0.809081 92 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hernia 0.000147 1.3839 0.3646 CHEK2 rs17879961 22:28725099:A:G 22 28725099 A G 22:29121087 0.998737 0.0297261 378 10543 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_multSubmitter_confl Adrenocortical carcinoma;Breast and colorectal cancer, susceptibility to;Breast cancer, susceptibility to;Cancer of multiple types, susceptibility to;Colorectal cancer, susceptibility to;Familial cancer of breast;Gastrointestinal carcinoma;Hereditary cancer-predisposing syndrome;Li-Fraumeni syndrome 2;Prostate cancer, susceptibility to;not provided;not specified Benign neoplasms (other cancers excluded from controls) 1.91e-17 0.2191 0.0258 General examination and investigation of persons without complaint and reported diagnosis 0.0003328 0.535 0.149 CHEK2 rs587782401 22:28734401:A:T 22 28734401 A T 22:29130389 0.962491 0.000827463 0 304 LC dominant Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of breast (other cancers excluded from controls) 8.21e-06 1.7083 0.3831 KREMEN1 rs16987136 22:29138633:A:G 22 29138633 A G 22:29534621 0.984459 141 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other conjunctival vascular disorders and cysts 0.00021 16.6789 4.5004 NEFH rs60825978 22:29481007:G:A 22 29481007 G A 22:29876996 0.993809 0.0182613 156 6553 missense_variant both not provided not_provided no assertion provided none not provided Benign neoplasms (other cancers excluded from controls) 7.16e-06 0.1468 0.0327 Benign neoplasm: Short bones of lower limb 0.0001603 25.658 6.798 NEFH rs149955255 22:29483545:C:A 22 29483545 C A 22:29879534 0.985747 971 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormalities of breathing 0.00233 -0.3441 0.113 NEFH rs59371099 22:29489027:G:A 22 29489027 G A 22:29885016 0.983525 33472 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic diseases of tonsils and adenoids 0.000206 -0.0743 0.02 Motor disorders 0.0001156 1.969 0.511 NEFH rs59551486 22:29490007:CAAG:C 22 29490007 CAAG C 22:29885996 0.956723 394 inframe_indel both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other congenital malformations of peripheral vascular system 0.000613 11.6295 3.3947 NEFH rs165602 22:29490054:A:C 22 29490054 A C 22:29886043 0.99537 68351 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other hearing loss 0.000196 0.1134 0.0304 Varicose veins 6.31e-05 0.086 0.021 THOC5 rs35832657 22:29517289:C:T 22 29517289 C T 22:29913278 0.976862 0.0448382 804 15669 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other bursopathies 2.2e-05 0.3912 0.0922 Ischaemic heart disease, wide definition 0.0004634 0.318 0.091 NF2 rs199669486 22:29681503:G:A 22 29681503 G A 22:30077492 0.995172 0.00106971 0 393 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Traumatic subdural haemorrhage 5.11e-05 3.4304 0.8469 LIF rs41281637 22:30244004:C:T 22 30244004 C T 22:30639993 0.954565 0.00129291 0 475 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-allergic asthma 1.85e-05 2.0309 0.4743 TCN2 rs9606756 22:30610873:A:G 22 30610873 A G 22:31006860 0.997228 45455 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Achilles tendinitis 0.000833 0.19 0.0569 Reactive arthropathies, FINNGEN 0.0002448 0.471 0.128 TCN2 rs35915865 22:30612880:T:C 22 30612880 T C 22:31008867 0.999707 3443 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Transcobalamin II deficiency;not provided Dislocation, sprain and strain of joints and ligaments of thorax 0.00132 1.7037 0.5305 Ventral hernia 0.0006221 5.246 1.533 TCN2 rs35838082 22:30615363:C:T 22 30615363 C T 22:31011350 0.997889 0.0048314 14 1761 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transcobalamin II deficiency Cerebrovascular diseases 1.09e-05 -0.4479 0.1018 Other hearing loss 1.719e-05 13.297 3.093 TCN2 rs1801198 22:30615623:G:C 22 30615623 G C 22:31011610 0.997835 0.626825 144962 85326 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of eyelid, lacrimal system and orbit 5.12e-05 0.0569 0.014 Osteoporosis with pathological fracture (FG) 5.316e-05 0.175 0.043 TCN2 rs9621049 22:30617432:C:T 22 30617432 C T 22:31013419 0.997509 47077 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Habit and impulse disorders 0.000739 -0.4771 0.1414 Other and unspecified disorders of skin and subcutaneous tissue 0.0009051 0.408 0.123 TCN2 rs1131603 22:30622988:T:C 22 30622988 T C 22:31018975 0.992385 29357 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transcobalamin II deficiency Angina pectoris 0.000414 0.0943 0.0267 0.001536 0.305 0.096 TCN2 rs4820889 22:30623057:G:A 22 30623057 G A 22:31019044 0.997361 6464 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transcobalamin II deficiency;not provided;not specified Transient ischemic attack 0.000548 0.2353 0.0681 Peptic ulcer 0.0003114 18.356 5.091 TCN2 rs148963479 22:30626474:A:G 22 30626474 A G 22:31022461 0.981018 444 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chromosomal abnormalities, not elsewhere classified 0.00101 9.8279 2.9879 OSBP2 rs79856312 22:30695318:C:T 22 30695318 C T 22:31091305 0.991444 3397 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspesified noninflammatory disorders of ovary, fallopian tube and broad ligament 0.00064 1.5627 0.4577 Other abnormalities of plasma proteins 0.0006894 116.086 34.206 OSBP2 rs35988107 22:30893490:G:C 22 30893490 G C 22:31289477 0.982622 1026 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of gallbladder 0.000161 2.9368 0.7782 Alcohol abuse counselling and surveillance 0.0006296 107.729 31.513 PISD rs147371584 22:31621010:C:T 22 31621010 C T 22:32016996 0.963897 217 missense_variant unknown Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Nerve, nerve root and plexus disorders 0.00068 0.8427 0.248 DEPDC5 rs187334123 22:31797646:G:A 22 31797646 G A 22:32193632 0.997243 4769 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, familial focal, with variable foci 1;Rolandic epilepsy Death due to cardiac causes 0.000139 -0.3454 0.0906 Other/unspecified enthesopathies of lower limb, excluding foot 0.004753 5.026 1.78 DEPDC5 rs41311139 22:31804863:C:T 22 31804863 C T 22:32200849 0.999217 0.0217508 224 7767 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, familial focal, with variable foci 1;Seizures;not provided;not specified Other pleural conditions 9.77e-05 0.6687 0.1716 Femoral hernia 0.001137 4.605 1.415 DEPDC5 rs777844378 22:31809614:G:T 22 31809614 G T 22:32205600 0.979323 461 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pleural effusion 0.000389 2.3267 0.6559 DEPDC5 rs201394709 22:31810526:G:A 22 31810526 G A 22:32206512 0.852198 171 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Eosinophilic disease (BM) 0.00106 20.3778 6.226 DEPDC5 rs16989528 22:31821553:C:T 22 31821553 C T 22:32217539 0.99994 24905 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, familial focal, with variable foci 1;Seizures;not specified Pyogenic arthritis 0.00117 0.3123 0.0962 Care involving dialysis 0.0002609 1.036 0.284 DEPDC5 rs181347577 22:31822706:C:T 22 31822706 C T 22:32218692 0.998635 2562 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, familial focal, with variable foci 1;Rolandic epilepsy;Seizures;not provided Additional codes for the location of defect, injury or illness 0.00255 1.3971 0.463 Hyperlipidaemia, other/unspecified 0.0009707 4.387 1.33 DEPDC5 rs61731667 22:31822741:C:A 22 31822741 C A 22:32218727 0.998411 8796 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, familial focal, with variable foci 1;Seizures;not provided;not specified Autism spe (more controls excluded) 0.000114 1.6496 0.4275 Thyroiditis, unspecified 0.0001213 10.034 2.611 DEPDC5 rs61731662 22:31870617:A:G 22 31870617 A G 22:32266603 0.993142 10760 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, familial focal, with variable foci 1;Seizures;not provided;not specified Superficial injury of thorax 0.000125 0.4018 0.1047 Malnutrition 0.0001722 8.952 2.383 DEPDC5 rs146449468 22:31906059:C:T 22 31906059 C T 22:32302045 0.992701 8877 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Epilepsy, familial focal, with variable foci 1;Seizures;not provided;not specified Superficial injury of thorax 0.000109 0.4467 0.1154 Thyroiditis, unspecified 0.0001551 9.711 2.567 SLC5A1 rs17683011 22:32049959:A:G 22 32049959 A G 22:32445946 0.999375 20489 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital glucose-galactose malabsorption;not specified Spondylopathies (FG) 0.000898 0.2527 0.0761 Dermatographic urticaria 0.0007051 1.429 0.422 SLC5A1 rs150117594 22:32083115:G:T 22 32083115 G T 22:32479102 0.999001 2987 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Labour and delivery complicated by fetal stress [distress] 0.000342 0.5753 0.1606 5.218e-05 1.697 0.42 SLC5A1 rs139037092 22:32084636:T:G 22 32084636 T G 22:32480623 0.886391 131 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Diabetes insipidus 0.00048 28.9853 8.3012 Pleural effusion 0.0006883 117.235 34.54 SLC5A1 rs17683430 22:32091713:G:A 22 32091713 G A 22:32487700 0.99922 20483 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital glucose-galactose malabsorption;not specified Spondylopathies (FG) 0.000878 0.2532 0.0761 Dermatographic urticaria 0.0007169 1.424 0.421 SLC5A1 rs33954001 22:32110063:C:G 22 32110063 C G 22:32506050 0.999227 20479 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital glucose-galactose malabsorption;not specified Spondylopathies (FG) 0.000885 0.253 0.0761 Dermatographic urticaria 0.0007588 1.408 0.418 SLC5A1 rs61733910 22:32110064:G:A 22 32110064 G A 22:32506051 0.993857 480 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital glucose-galactose malabsorption;not provided Cardiomyopathies, Primary/intrinsic 0.000621 1.8097 0.5288 Astigmatism 0.0007877 103.528 30.839 FBXO7 rs8137714 22:32475396:T:G 22 32475396 T G 22:32871383 0.996671 0.208689 16130 60540 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Primary angle-closure glaucoma 1.89e-05 0.3502 0.0819 Other ulcerative colitis 0.0003479 0.373 0.104 FBXO7 rs139135860 22:32479132:G:C 22 32479132 G C 22:32875119 0.965026 0.000293967 0 108 pLoF recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chronic laryngitis and laryngotracheitis 3.56e-05 5.7682 1.3951 FBXO7 rs11107 22:32479203:G:A 22 32479203 G A 22:32875190 0.999604 90402 start_lost recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dermatitis herpetiformis 0.000712 0.3273 0.0967 Sarcoidosis 1.885e-05 0.141 0.033 FBXO7 rs34316445 22:32498507:G:C 22 32498507 G C 22:32894494 0.99178 1886 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Parkinson disease 15;not provided Acute appendicitis, no complications 0.000365 0.3721 0.1044 Other and unspecified visual disturbances 0.0001838 22.488 6.012 SYN3 rs140962261 22:32518222:C:A 22 32518222 C A 22:32914209 0.988868 1798 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rheumatic fever incl heart disease 0.00132 1.6983 0.5288 Undefined dementia (more controls excluded) 0.0002336 243.08 66.062 SYN3 rs150768274 22:32518325:C:T 22 32518325 C T 22:32914312 0.950354 2721 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 1 diabetes with neurological complications 0.00101 1.4055 0.4273 Exophthalmic conditions 0.001246 65.78 20.378 LARGE1 rs1046166 22:33277139:C:T 22 33277139 C T 22:33673125 0.899938 775 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of porphyrin and bilirubin metabolism 0.000455 7.8214 2.231 LARGE1 rs191368661 22:33304284:T:C 22 33304284 T C 22:33700270 0.949023 555 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Gout, FINNGEN 0.000155 1.5965 0.422 LARGE1 rs150861748 22:33316116:C:T 22 33316116 C T 22:33712102 0.980151 203 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carpal tunnel syndrome 0.000274 1.3819 0.3798 MCM5 rs2230933 22:35410763:G:A 22 35410763 G A 22:35806756 0.949228 371 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Premature rupture of membranes 0.00201 1.7161 0.5556 APOL2 rs118097350 22:36228185:C:T 22 36228185 C T 22:36624231 0.998074 10658 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seropositive rheumatoid arthritis, strict definition 0.000127 0.5822 0.1519 Other postsurgical states 9.019e-05 3.045 0.778 MYH9 rs140588099 22:36282733:C:T 22 36282733 C T 22:36678779 0.978442 379 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gestational [pregnancy-induced] hypertension 0.00136 2.2126 0.6907 MYH9 rs201174456 22:36284453:G:C 22 36284453 G C 22:36680499 0.991175 2235 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinal breaks without detachment 0.00143 0.7649 0.2398 Glaucoma suspect 0.001946 7.043 2.273 MYH9 rs145139708 22:36285281:T:C 22 36285281 T C 22:36681327 0.991738 1133 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant;not provided;not specified Abnormalities of breathing 0.000644 -0.3624 0.1062 Congenital malformations of the musculoskeletal system, not elsewhere classified 0.0005958 128.033 37.289 MYH9 rs148109368 22:36285872:C:T 22 36285872 C T 22:36681918 0.92479 0.000805688 0 296 missense_variant dominant Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Endometriosis of intestine 1.41e-05 18.425 4.2425 MYH9 rs142094977 22:36286827:A:G 22 36286827 A G 22:36682873 0.960562 536 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant;not provided;not specified Other ill-defined and unspecified causes of mortality 0.00137 5.7984 1.8112 Macular pucker 0.000673 112.295 33.025 MYH9 rs2269529 22:36288308:T:C 22 36288308 T C 22:36684354 0.997203 52217 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leiomyoma of uterus 0.000156 0.07 0.0185 Deficiency of other B group vitamins 0.0004717 0.753 0.215 MYH9 rs139134727 22:36289246:G:A 22 36289246 G A 22:36685292 0.966971 301 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other diseases of gallbladder 0.000666 5.0561 1.4857 MYH9 rs147122501 22:36349101:G:A 22 36349101 G A 22:36745146 0.972939 12878 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, autosomal dominant nonsyndromic sensorineural 17;MYH9-related disorder;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss;Macular dystrophy, atypical vitelliform;Nonsyndromic Hearing Loss, Dominant;not specified Other disorders of skin and subcutaneous tissue, not elsewhere classified 0.000313 0.3498 0.0971 Malignant neoplasm of thyroid gland 0.001546 1.965 0.621 MYH9 rs56200894 22:36349230:G:C 22 36349230 G C 22:36745275 0.833839 0.00041101 6 145 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter MYH9-related disorder;Nonsyndromic Hearing Loss, Dominant;not specified Congenital malformations of cardiac septa 2.88e-05 8.5744 2.0501 Congenital malformations of cardiac septa 8.711e-06 56.207 12.64 CACNG2 rs139052540 22:36564683:C:T 22 36564683 C T 22:36960730 0.88293 99 missense_variant dominant Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Unspecified mental disorder 0.000438 2.9744 0.8459 NCF4 rs146911421 22:36875672:C:T 22 36875672 C T 22:37271714 0.960223 375 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic granulomatous disease;Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III Pervasive developmental disorders excl. Autism + Asperger 0.000471 12.4183 3.5514 Endocrine, nutritional and metabolic diseases 0 1.902 0 NCF4 rs2075939 22:36875840:T:C 22 36875840 T C 22:37271882 0.997828 45973 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Excessive vomiting in pregnancy 0.000623 0.2732 0.0799 Excessive vomiting in pregnancy 0.001803 0.14 0.045 NCF4 rs200598824 22:36877629:C:T 22 36877629 C T 22:37273671 0.901339 180 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Adjustment and management of implanted device 0.000514 3.5986 1.0361 CSF2RB rs16845 22:36930401:G:C 22 36930401 G C 22:37326443 0.993223 13394 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Other obstructed labour 0.000416 0.6041 0.1711 Other eating disorders 0.0003083 3.023 0.838 CSF2RB rs117805308 22:36930752:G:A 22 36930752 G A 22:37326794 0.955723 5496 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Benign neoplasm: Peripheral nerves and autonomic nervous system (other cancers excluded from controls) 0.000151 2.0921 0.552 Hyperfunction of pituitary gland 0.001133 9.969 3.062 CSF2RB rs1801122 22:36937615:C:A 22 36937615 C A 22:37333657 0.971907 19529 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Spondylolisthesis/Spondylolysis 0.000793 0.2427 0.0723 Arthropathies in other diseases classified elsewhere 6.01e-05 2.959 0.738 CSF2RB rs1801114 22:36937762:G:A 22 36937762 G A 22:37333804 0.974835 2338 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Gout, strict definition 0.000219 1.0132 0.2741 Alcoholic gastritis 0.001304 66.395 20.651 CSF2RB rs16997517 22:36937894:C:T 22 36937894 C T 22:37333936 0.972144 2197 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Gout, strict definition 0.000718 0.9435 0.2789 Other benign neoplasms of connective and other soft tissue (other cancers excluded from controls) 0.001974 16.841 5.443 CSF2RB rs568607741 22:36937930:GC:G 22 36937930 GC G 22:37333972 0.952977 342 pLoF recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nonsuppurative otitis media 0.000234 1.6063 0.4366 KCTD17 rs146711968 22:37062565:C:G 22 37062565 C G 22:37458605 0.929689 155 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Left bundle-branch block 0.000673 4.9338 1.451 TMPRSS6 rs139105452 22:37066133:C:T 22 37066133 C T 22:37462173 0.984413 6078 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Infections of breast associated with childbirth 0.00104 1.1583 0.3533 Giant cell arteritis 0.000459 15.355 4.383 TMPRSS6 rs855791 22:37066896:A:G 22 37066896 A G 22:37462936 0.999301 0.651608 156154 83239 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Emotional disorders and disorders of social functioning with onset specific to childhood 2.81e-05 -0.2545 0.0608 Emotional disorders and disorders of social functioning with onset specific to childhood 0.0001941 -0.154 0.041 TMPRSS6 rs117576908 22:37075168:G:A 22 37075168 G A 22:37471208 0.996855 17006 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Microcytic anemia;not provided Vascular dementia (multiple infarctations) 0.000453 0.9878 0.2816 Acute and transient psychotic disorders 0.0007808 0.867 0.258 TMPRSS6 rs2235324 22:37089684:T:C 22 37089684 T C 22:37485724 0.998826 89158 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Diabetes mellitus in pregnancy 0.000243 -0.0849 0.0231 Fracture of rib(s), sternum and thoracic spine 0.001376 0.076 0.024 IL2RB rs149508414 22:37142481:C:T 22 37142481 C T 22:37538521 0.99593 4331 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Faecal incontinence 0.000181 0.8945 0.2389 Barret oesophagus 0.0004828 13.839 3.965 TRIOBP rs199646135 22:37713220:C:G 22 37713220 C G 22:38109227 0.842966 80 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cardiomyopathies, Primary/intrinsic 0.000696 7.8259 2.3078 TRIOBP rs143157673 22:37715890:C:T 22 37715890 C T 22:38111897 0.999329 0.00117315 0 431 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other acute viral hepatitis 8.78e-05 12.426 3.1682 TRIOBP rs12628603 22:37723206:G:A 22 37723206 G A 22:38119213 0.999147 89525 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Subacute thyroiditis 0.000175 -0.3 0.0799 Circumscribed brain atrophy 0.001445 -0.252 0.079 TRIOBP rs756464380 22:37723747:TCAA:T 22 37723747 TCAA T 22:38119754 0.998035 0.37544 52336 85596 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sensorineural hearing loss 6.57e-08 0.0763 0.0141 Sensorineural hearing loss 3.865e-06 0.064 0.014 TRIOBP rs142024473 22:37724535:C:T 22 37724535 C T 22:38120542 0.987766 0.045965 804 16083 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fitting and adjustment of other devices 2.66e-05 -0.2658 0.0633 Epilepsy 0.000193 0.714 0.192 TRIOBP rs186620158 22:37724705:C:G 22 37724705 C G 22:38120712 0.872799 88 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.000246 39.8157 10.8594 TRIOBP rs41296243 22:37725033:C:T 22 37725033 C T 22:38121040 0.983011 4810 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Metatarsalgia 0.0014 0.684 0.2141 Aneurysms, operations, SAH 9.645e-05 5.631 1.444 TRIOBP rs9610841 22:37725145:C:A 22 37725145 C A 22:38121152 0.999621 0.375263 52188 85679 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sensorineural hearing loss 4.09e-08 0.0775 0.0141 Sensorineural hearing loss 3.421e-06 0.065 0.014 TRIOBP rs193043234 22:37725645:C:G 22 37725645 C G 22:38121652 0.99215 2691 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of lumbar spine and pelvis 0.000432 0.6706 0.1905 Other prurigo 0.0005658 135.053 39.174 TRIOBP rs200359708 22:37725788:C:T 22 37725788 C T 22:38121795 0.971743 5056 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Hypopituitarism 0.000379 0.8568 0.2411 Hyperprolactinaemia 6.481e-05 11.548 2.891 TRIOBP rs5756795 22:37726115:T:C 22 37726115 T C 22:38122122 0.996661 0.375377 52322 85587 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sensorineural hearing loss 7.43e-08 0.0761 0.0141 Sensorineural hearing loss 3.972e-06 0.064 0.014 TRIOBP rs739138 22:37726455:A:G 22 37726455 A G 22:38122462 0.99804 0.723244 192246 73465 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fitting and adjustment of other devices 8.57e-05 0.115 0.0293 Fitting and adjustment of other devices 8.734e-05 0.072 0.018 TRIOBP rs34066624 22:37733381:G:A 22 37733381 G A 22:38129388 0.877477 0.000998944 0 367 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Appendicitis, broad definition 3.41e-05 0.8607 0.2077 TRIOBP rs8140207 22:37734452:G:T 22 37734452 G T 22:38130459 0.998969 0.334736 41354 81624 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Circumscribed brain atrophy 1.36e-05 0.4884 0.1123 Congenital malformations of the respiratory system 0.0006931 0.46 0.135 TRIOBP rs8140958 22:37734465:T:C 22 37734465 T C 22:38130472 0.99835 10945 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other maternal disorders predominantly related to pregnancy 0.00249 -0.144 0.0476 Other infectious diseases 0.002532 -0.204 0.068 TRIOBP rs140528529 22:37755560:C:T 22 37755560 C T 22:38151567 0.99712 2168 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Other congenital malformations of face and neck 0.000397 2.1024 0.5935 Thyroiditis 0.0005201 13.634 3.929 TRIOBP rs138139146 22:37769262:G:A 22 37769262 G A 22:38165269 0.878884 692 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Metabolic disorders 0.000772 0.4883 0.1452 TRIOBP rs200411253 22:37769329:G:A 22 37769329 G A 22:38165336 0.961636 615 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter not specified Congenital musculoskeletal deformities of head, face, spine and chest 0.000266 9.9882 2.7393 Melanocytic naevi, other sites/unspecified 0.001715 53.568 17.084 SOX10 rs760539449 22:37974064:T:C 22 37974064 T C 22:38370071 0.958535 294 missense_variant dominant Likely pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Vitamin deficiency 0.00192 4.6754 1.5068 Disorders of brain, other and unspecified 0.000499 154.977 44.517 PLA2G6 rs143826762 22:38120886:C:T 22 38120886 C T 22:38516893 0.984576 262 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital malformations of uterus and cervix 0.000765 11.4141 3.3917 PLA2G6 rs11570680 22:38132881:C:T 22 38132881 C T 22:38528888 0.968213 2741 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Infantile neuroaxonal dystrophy;not specified Specific development disorders of scholastic skills 0.00122 1.4375 0.4444 Suppurative otitis media, unspecified 1.905e-05 59.793 13.984 PLA2G6 rs147924368 22:38140006:G:A 22 38140006 G A 22:38536013 0.983159 156 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Chronic mastoiditis 0.000844 10.3269 3.0937 SUN2 rs139004902 22:38741508:C:T 22 38741508 C T 22:39137513 0.997781 4263 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emery-Dreifuss muscular dystrophy Malignant neoplasm of eye, brain and central nervous system 0.00142 -0.6222 0.195 0.001484 3.907 1.23 SUN2 rs138708 22:38742327:G:A 22 38742327 G A 22:39138332 0.998882 2724 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emery-Dreifuss muscular dystrophy Isolated proteinuria 0.000557 1.8437 0.5341 Osteoporosis 9.242e-05 4.777 1.222 SUN2 rs199843484 22:38750892:G:A 22 38750892 G A 22:39146897 0.978416 329 LC unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Otitis externa, unspecified 0.000929 3.1374 0.9475 SUN2 rs2072799 22:38752532:T:C 22 38752532 T C 22:39148537 0.984942 3309 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Emery-Dreifuss muscular dystrophy ILD-related co-morbidities 0.000575 -0.1334 0.0388 Other diseases of upper respiratory tract 0.0004634 1.469 0.42 APOBEC3F rs147329876 22:39045429:A:C 22 39045429 A C 22:39441434 0.968443 1357 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Respiratory disorders in diseases classified elsewhere 0.000118 6.3424 1.6471 Other and unspecified corneal deformities and disorders 1.993e-05 60.982 14.296 APOBEC3F rs12157816 22:39052270:A:G 22 39052270 A G 22:39448275 0.949245 0.00659521 22 2401 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other other unspecified disorders of the circulatory system 1.71e-05 2.5391 0.5905 Presbyopia 2.419e-05 52.352 12.399 APOBEC3F rs13056825 22:39052610:A:G 22 39052610 A G 22:39448615 0.962743 1235 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiac arrest 0.000104 2.3362 0.602 Diseases of middle ear and mastoid 0.0003455 5.79 1.618 PDGFB rs114786489 22:39225814:G:A 22 39225814 G A 22:39621819 0.983646 1019 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of nervous system 0.00131 2.0223 0.6292 PDGFB rs148252800 22:39235781:C:T 22 39235781 C T 22:39631786 0.997671 5127 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Reactive arthropathies 0.00128 0.5738 0.1781 Subacute thyroiditis 0.0008669 11.275 3.385 MIEF1 rs141041315 22:39513842:G:A 22 39513842 G A 22:39909847 0.990524 7558 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Salphingitis and oophoritis 0.000867 0.3325 0.0998 Herpesviral keratitis and keratoconjunctivitis 0.0002372 7.948 2.162 ATF4 rs150385569 22:39521955:A:T 22 39521955 A T 22:39917960 0.858809 385 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gonarthrosis, primary, with knee surgery 0.000544 1.2281 0.3551 CACNA1I rs58021347 22:39662388:A:T 22 39662388 A T 22:40058393 0.957701 410 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Supervision of high-risk pregnancy 0.000958 1.0344 0.3132 GRAP2 rs61752259 22:39968118:G:A 22 39968118 G A 22:40364122 0.988711 2710 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Arthrosis 0.00134 0.2008 0.0626 Other extrapyramidal and movement disorders+ in other diseases 7.963e-05 10.229 2.592 ADSL rs8192461 22:40361505:T:C 22 40361505 T C 22:40757509 0.998412 0.0154605 138 5542 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Adenylosuccinate lyase deficiency;not specified Problems related to housing and economic circumstances 6.19e-05 2.2112 0.5521 Other and unspecified polyneuropathies, also in other diseases 0.0005377 2.627 0.759 SGSM3 rs9611338 22:40401643:T:C 22 40401643 T C 22:40797647 0.965818 1544 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of cerebrovascular disease 0.000481 0.7273 0.2083 Pregnancy examination and test 0.0003863 12.391 3.491 SGSM3 rs143730708 22:40404396:C:T 22 40404396 C T 22:40800400 0.981728 0.00601272 24 2185 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Small cell lung cancer (other cancers excluded from controls) 7.01e-05 3.9377 0.9904 Traumatic amputation of wrist and hand 0.0006173 13.989 4.086 XPNPEP3 rs267607179 22:40924482:G:T 22 40924482 G T 22:41320486 0.840406 143 LC recessive Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Other peripheral vertigo 0.00033 5.9981 1.6704 XPNPEP3 rs146023695 22:40926388:C:G 22 40926388 C G 22:41322392 0.994349 0.00914564 20 3340 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nephronophthisis-like nephropathy 1;not provided Dementia 8.08e-05 0.4442 0.1127 Benign lipomatous neoplasm of skin and subcutaneous tissue of limbs (other cancers excluded from controls) 0.0001629 23.117 6.131 EP300 rs142030651 22:41117723:G:A 22 41117723 G A 22:41513727 0.99402 413 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Statin medication 0.000896 0.4935 0.1486 EP300 rs2230111 22:41125999:A:G 22 41125999 A G 22:41522003 0.995428 704 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and specified injuries of hip and thigh 0.000256 6.4238 1.7568 EP300 rs61756764 22:41146776:T:G 22 41146776 T G 22:41542780 0.97288 831 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma of colon;Rubinstein-Taybi syndrome 1;Rubinstein-Taybi syndrome 2;not specified Disorders of refraction and accommodation 0.00203 0.9666 0.3133 Vulvovaginal ulceration/inflammation in other diseases 5.066e-05 39.889 9.843 EP300 rs148884710 22:41150154:C:A 22 41150154 C A 22:41546158 0.931492 666 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rubinstein-Taybi syndrome 1;not provided;not specified Chronic crepitant synovitis/bursitis of hand and wrist/periarhritis of wrist 0.000243 6.9291 1.8882 Dronedarone medication 0.001145 66.677 20.502 EP300 rs20551 22:41152004:A:G 22 41152004 A G 22:41548008 0.999851 0.313845 36430 78873 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leiomyoma of uterus 8.22e-07 0.0741 0.015 Leiomyoma of uterus 0.0001558 0.062 0.016 EP300 rs140154690 22:41176265:C:G 22 41176265 C G 22:41572269 0.998514 0.0163941 116 5907 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rubinstein-Taybi syndrome 1 Crohn disease ( strict definition, require KELA, min 2 HDR) 5.53e-06 1.215 0.2674 Thyrotoxicosis 6.116e-05 2.917 0.728 EP300 rs587778256 22:41178336:AACCAGTTCCAGC:A 22 41178336 AACCAGTTCCAGC A 22:41574340 0.973665 1058 inframe_indel dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Other and unspecified abdominal hernia 0.000234 3.1654 0.8603 EP300 rs1046088 22:41178379:A:C 22 41178379 A C 22:41574383 0.998447 17097 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma of colon;Rubinstein-Taybi syndrome 1;Rubinstein-Taybi syndrome 2;not specified Chronic tubulo-interstitial nephritis 0.00114 0.474 0.1457 Vascular diseases of the intestine 6.402e-05 3.309 0.828 ACO2 rs141772938 22:41507837:C:G 22 41507837 C G 22:41903841 0.990009 1349 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Infantile cerebellar-retinal degeneration;Optic atrophy 9;Optic atrophy 9;not provided Helminthiases 0.0013 3.4534 1.0742 Artificial opening status 0.00173 52.616 16.794 ACO2 rs141878785 22:41515801:G:C 22 41515801 G C 22:41911805 0.960145 194 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Moderate visual impairment, binocular 0.000487 7.498 2.1496 SREBF2 rs2229439 22:41875359:G:A 22 41875359 G A 22:42271363 0.991499 0.00329896 12 1200 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diabetic ketoacidosis 6.85e-06 1.0016 0.2227 Type 2 diabetes with ketoacidosis 0.0009722 83.869 25.427 TNFRSF13C rs61756766 22:41925447:G:A 22 41925447 G A 22:42321451 0.962723 1299 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Common variable immunodeficiency 4;not provided Brachial plexus disorders 0.000527 1.6479 0.4753 Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.0008147 99.862 29.83 TNFRSF13C rs150374940 22:41926151:C:T 22 41926151 C T 22:42322155 0.987799 542 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 2 diabetes, definitions combined 0.000461 -0.5533 0.158 TNFRSF13C rs547352394 22:41926277:C:A 22 41926277 C A 22:42322281 0.997117 4034 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not provided Benign neoplasm: Colon (other cancers excluded from controls) 0.000318 0.3474 0.0965 Postprocedural musculoskeletal disorders, not elsewhere classified 0.001086 10.273 3.144 TNFRSF13C rs77874543 22:41926712:G:C 22 41926712 G C 22:42322716 0.998693 29323 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Common Variable Immune Deficiency, Recessive;Common variable immunodeficiency 4 Faecal incontinence 0.00147 0.2702 0.085 Complications associated with artificial fertilization 0.000881 1.884 0.567 NAGA rs121434529 22:42061052:C:T 22 42061052 C T 22:42457056 0.986667 595 missense_variant recessive Pathogenic/Likely pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fibrosis and chirrhosis of liver 0.00632 2.2619 0.8283 NAGA rs121434532 22:42067136:G:C 22 42067136 G C 22:42463140 0.981778 799 missense_variant recessive Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Schindler disease, type 1;Schindler disease, type 3 Personal history of malignant neoplasm 0.000251 5.0339 1.3749 Benign neoplasm: Caecum 0.00164 44.832 14.238 NAGA rs73167107 22:42067809:C:T 22 42067809 C T 22:42463813 0.867826 0.000906399 2 331 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and/or unspecified nontoxic goitre 3.09e-05 4.3321 1.0397 CYP2D6 rs5030656 22:42128173:CCTT:C 22 42128173 CCTT C 22:42524175 0.946553 5337 inframe_indel recessive Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Thyrotoxicosis, other and/or unspecified 0.00152 0.4082 0.1287 0.0008447 -1.121 0.336 CYP2D6 rs35742686 22:42128241:CT:C 22 42128241 CT C 22:42524243 0.981022 0.0310462 368 11038 pLoF recessive Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Debrisoquine, poor metabolism of;not provided Hallux valgus (acquired) 4.44e-05 0.2283 0.0559 Statin medication 0.0004868 -0.371 0.106 CYP2D6 rs28371717 22:42128308:C:A 22 42128308 C A 22:42524310 0.953708 4860 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter not specified Thrombocytopenia, unspecified 0.000285 0.9732 0.2682 Hypotension 6.304e-05 6.202 1.55 CYP2D6 rs3892097 22:42128945:C:T 22 42128945 C T 22:42524947 0.99512 34698 pLoF recessive drug response drug response reviewed by expert panel Criteria_multSubmitter Debrisoquine, poor metabolism of;amitriptyline response - Dosage, Toxicity/ADR;antidepressants response - Dosage, Toxicity/ADR;clomipramine response - Dosage, Toxicity/ADR;desipramine response - Dosage, Toxicity/ADR;doxepin response - Dosage, Toxicity/ADR;imipramine response - Dosage, Toxicity/ADR;nortriptyline response - Dosage, Toxicity/ADR;not provided;not specified;tamoxifen response - Efficacy, Toxicity/ADR;trimipramine response - Dosage, Toxicity/ADR Lactose intolerance 0.0012 0.3971 0.1226 Excessive, freguent and irrelgular menstruation 3.196e-05 -0.193 0.046 CYP2D6 rs5030655 22:42129083:CA:C 22 42129083 CA C 22:42525085 0.988044 6375 pLoF recessive Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Debrisoquine, poor metabolism of;not provided Spondylolisthesis/Spondylolysis 0.000351 0.4414 0.1235 Other specified/unspecified dorsopathies 7.575e-05 8.937 2.258 CYP2D6 rs1065852 22:42130692:G:A 22 42130692 G A 22:42526694 0.995618 37993 missense_variant recessive Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lactose intolerance 0.000458 0.4079 0.1164 Cramp and spasm 0.000158 0.828 0.219 CYP2D6 rs769258 22:42130761:C:T 22 42130761 C T 22:42526763 0.984471 0.0684916 1824 23339 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Status epilepticus 8.9e-05 0.6048 0.1543 Acute and subacute iridocyclitis 2.495e-05 0.72 0.171 TCF20 rs199838890 22:42210636:G:A 22 42210636 G A 22:42606642 0.995982 3770 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital iodine-deficiency syndrome/hypothyroidism 0.000701 1.6601 0.4898 Respiratory distress of newborn 0.001885 35.408 11.393 PNPLA3 rs2076213 22:43927042:T:G 22 43927042 T G 22:44322922 0.993895 36514 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intestinal adhesions without obstruction 0.00108 -0.2597 0.0795 Any death 0.001408 0.145 0.045 PNPLA3 rs2076212 22:43927090:G:T 22 43927090 G T 22:44322970 0.99394 34864 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Irritable bowel syndrome 0.000257 -0.1431 0.0391 Non-small cell lung cancer, adenocarcinoma (other cancers excluded from controls) 0.0003894 0.908 0.256 PNPLA3 rs738409 22:43928847:C:G 22 43928847 C G 22:44324727 0.999239 0.227724 19206 64457 missense_variant unknown drug response drug response reviewed by expert panel Criteria_multSubmitter Cirrhosis, broad definition used in the article https://doi.org/10.1101/594523 6.7e-21 0.4428 0.0472 Diseases of liver 1.679e-17 0.336 0.039 PNPLA3 rs144233415 22:43940005:A:G 22 43940005 A G 22:44335885 0.963345 3512 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Susceptibility to Nonalcoholic Fatty Liver Disease Postpartum haemorrhage 0.000167 0.5746 0.1526 Substance abuse 7.246e-05 2.293 0.578 PNPLA3 rs2294918 22:43946236:A:G 22 43946236 A G 22:44342116 0.99878 0.668582 164276 81353 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cardiomyopathy, other and unspecified 6.75e-05 -0.1989 0.0499 Cardiomyopathy, other and unspecified 0.0002634 -0.122 0.033 UPK3A rs1057353 22:45287423:G:C 22 45287423 G C 22:45683304 0.992903 0.738538 200564 70766 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Monoarthritis, not elsewhere classified 8.03e-05 -0.289 0.0733 Benign neoplasm: Vulva 0.0004242 0.232 0.066 UPK3A rs147609981 22:45289117:G:A 22 45289117 G A 22:45684998 0.998381 9528 pLoF unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Renal adysplasia Bullous pemphigoid 0.00126 1.1691 0.3625 Complications following infusion, transfusion and therapeutic injection 0.001765 8.319 2.66 FBLN1 rs143377110 22:45577061:G:T 22 45577061 G T 22:45972941 0.929394 111 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in other circumstances 0.000291 2.802 0.7733 FBLN1 rs13268 22:45600418:A:G 22 45600418 A G 22:45996298 0.995561 0.0320615 408 11371 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Statin medication 4.2e-06 -0.1268 0.0276 Achalasia of cardia 0.0004189 6.62 1.876 PPARA rs1800206 22:46218377:C:G 22 46218377 C G 22:46614274 0.990489 0.0351563 540 12376 missense_variant unknown risk factor risk factor no assertion criteria provided no_Criteria Hyperapobetalipoproteinemia, susceptibility to Cholelithiasis, broad definition with cholecystitis 2.9e-06 0.164 0.0351 Burn and corrosion of wrist and hand 4.327e-06 5.548 1.207 PPARA rs1800234 22:46219983:T:C 22 46219983 T C 22:46615880 0.969151 1373 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypothermia 0.000676 4.0141 1.181 TRMU rs11090865 22:46335792:G:T 22 46335792 G T 22:46731689 0.99895 31476 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Deafness, mitochondrial, modifier of;Liver failure acute infantile;not provided;not specified Unspecified diabetes 0.00035 0.1721 0.0481 Pterygium 0.0007632 1.242 0.369 TRMU rs55952751 22:46337934:G:A 22 46337934 G A 22:46733831 0.984689 5028 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter not specified Ohter specific/unspecified arthritis 0.00024 0.4074 0.1109 Disorders of skin appendages 6.31e-05 3.109 0.777 TRMU rs144586525 22:46346453:A:G 22 46346453 A G 22:46742350 0.941857 1126 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Liver failure acute infantile;not specified Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 0.000789 1.2876 0.3836 Other disorders of choroid 0.0001543 410.85 108.576 CELSR1 rs749296817 22:46436177:C:CGG 22 46436177 C CGG 22:46832074 0.863229 647 pLoF unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic strabismus 0.00164 2.4266 0.7706 CELSR1 rs149062226 22:46436178:A:AGAAGGCCCCACCTGCG 22 46436178 A AGAAGGCCCCACCTGCG 22:46832075 0.86324 647 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Paralytic strabismus 0.00164 2.4266 0.7707 TBC1D22A rs146025212 22:46793719:C:T 22 46793719 C T 22:47189616 0.989445 9488 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injury of muscle and tendon at wrist and hand level 0.000294 -0.3947 0.109 Intermittent heterotropia 0.0006995 3.305 0.975 BRD1 rs147595191 22:49823077:T:C 22 49823077 T C 22:50216725 0.977288 2706 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasms of skin 0.000136 0.4522 0.1185 Lupus erythematosus 0.0001629 24.06 6.381 BRD1 rs140730234 22:49823110:T:C 22 49823110 T C 22:50216758 0.970708 5376 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinal vascular disorders 0.000195 0.646 0.1734 0.001133 0.599 0.184 ALG12 rs1321 22:49903787:T:C 22 49903787 T C 22:50297435 0.997879 52094 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Need for immunization against other single viral diseases 0.00025 0.4297 0.1173 Male infertility 0.0002255 0.551 0.149 ALG12 rs138804791 22:49903837:C:G 22 49903837 C G 22:50297485 0.888055 129 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of shoulder and upper arm 0.00031 17.7787 4.9294 ALG12 rs3922872 22:49904240:T:C 22 49904240 T C 22:50297888 0.998322 0.123548 5818 39572 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Need for immunization against other single viral diseases 3.75e-05 0.5603 0.1359 Speech and linguistic disorders 0.0006128 0.474 0.138 ALG12 rs748537273 22:49904417:G:A 22 49904417 G A 22:50298065 0.977578 381 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of unspecified body region 0.000682 4.0084 1.1802 ALG12 rs144665682 22:49909927:G:A 22 49909927 G A 22:50303575 0.880479 536 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dorsopathies 0.000185 0.4346 0.1162 ALG12 rs117687848 22:49910544:C:T 22 49910544 C T 22:50304192 0.970703 516 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Chondrocostal junction syndrome [Tietze] 0.0023 4.3542 1.4285 CRELD2 rs758608747 22:49922288:CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG:C 22 49922288 CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG C 22:50315936 0.996668 0.116427 5112 37662 pLoF unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Human immunodeficiency virus [HIV] disease 6.58e-05 0.5235 0.1312 Benign neoplasm: Tongue (other cancers excluded from controls) 0.0001123 1.175 0.304 MLC1 rs41302601 22:50074276:G:T 22 50074276 G T 22:50512705 0.995076 1637 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megalencephalic leukoencephalopathy with subcortical cysts 1;not provided;not specified Fall on same level 0.00105 1.7762 0.5421 Other disorders of binocular vision 0.0003681 203.355 57.091 MLC1 rs6010260 22:50077414:C:A 22 50077414 C A 22:50515843 0.999323 29068 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Megalencephalic leukoencephalopathy with subcortical cysts;Megalencephalic leukoencephalopathy with subcortical cysts 1;not specified Low back pain 0.000457 0.0962 0.0275 Otherdisorders of bone 5.131e-05 0.496 0.122 TUBGCP6 rs35381394 22:50217999:G:A 22 50217999 G A 22:50656428 0.985286 28574 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter !Aliquae complicationes praecoces traumatis 0.000229 0.4958 0.1346 Pure hyperglyceridaemia 0.0002753 2.012 0.553 TUBGCP6 rs149152116 22:50218218:G:A 22 50218218 G A 22:50656647 0.938617 0.00058249 0 214 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other maternal diseases classifiable elsewhere but complicating pregnancy, childbirth and the puerperium 2.41e-05 2.4291 0.5752 TUBGCP6 rs142496306 22:50219374:G:A 22 50219374 G A 22:50657803 0.952858 1988 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of other and unspecified endocrine glands (other cancers excluded from controls) 0.00114 0.9989 0.3069 0.001858 1.562 0.502 TUBGCP6 rs79022493 22:50219455:G:A 22 50219455 G A 22:50657884 0.995109 5807 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Microcephaly with chorioretinopathy, autosomal recessive Phlebitis and thrombophlebitis (not including DVT) 0.000611 0.3983 0.1163 Chondromalacia 6.897e-05 11.864 2.981 TUBGCP6 rs142798996 22:50219736:G:A 22 50219736 G A 22:50658165 0.93986 104 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hereditary retinal dystrophy 0.000133 22.0692 5.7762 TUBGCP6 rs11703226 22:50219995:T:C 22 50219995 T C 22:50658424 0.994062 89376 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Unspecified dementia 0.00012 0.1571 0.0408 Benign neoplasm: Connective and other soft tissue of upper limb, including shoulder 0.0002595 -0.229 0.063 TUBGCP6 rs4838865 22:50226183:A:G 22 50226183 A G 22:50664612 0.993562 59123 missense_variant recessive Benign (likely)Benign no assertion criteria provided no_Criteria Other specified/unspecified hearing loss 0.00224 0.1995 0.0653 Anosmia 0.0009617 -0.203 0.062 TUBGCP6 rs142435821 22:50229501:G:A 22 50229501 G A 22:50667930 0.975801 120 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Pain in thoracic spine 0.000447 4.5171 1.2867 TUBGCP6 rs138586345 22:50243871:A:G 22 50243871 A G 22:50682300 0.992407 471 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of endocrine gland (other cancers excluded from controls) 0.000396 2.8059 0.792 TUBGCP6 rs139974572 22:50244299:G:C 22 50244299 G C 22:50682728 0.974879 146 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Migraine, single triptan purchase ok & required. ICD-code if available is included 0.00198 1.3284 0.4296 SBF1 rs202049257 22:50454628:G:T 22 50454628 G T 22:50893057 0.970499 0.00642917 8 2354 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other encephalitis 9.51e-07 3.596 0.7337 Spontaneous abortion 0.003822 7.773 2.687 SBF1 rs200718883 22:50456638:T:C 22 50456638 T C 22:50895067 0.957344 1477 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Poisoning by medicine 0.000328 -0.7052 0.1963 Thyrotoxicosis with diffuse goitr 0.0008684 9.803 2.944 SBF1 rs201776298 22:50466179:C:T 22 50466179 C T 22:50904608 0.986596 2215 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute pharyngitis 0.000169 0.8491 0.2258 Colitis, primary sclerosing, strict definition 0.0005587 135.874 39.373 SCO2 rs140523 22:50524353:C:G 22 50524353 C G 22:50962782 0.998658 85516 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chlocystitis 0.00124 -0.1216 0.0376 Malignant neoplasm of kidney, except renal pelvis 0.0004904 -0.131 0.037 SCO2 rs749838192 22:50524395:C:CTGAGTCACTGCTGCATGCT 22 50524395 C CTGAGTCACTGCTGCATGCT 22:50962824 0.945959 0.00997039 6 3657 pLoF both Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Primary dilated cardiomyopathy Chronic nephritic syndrome 9.85e-06 1.5115 0.3419 Anomalies of pupillary function 0.0002381 278.82 75.874 TYMP rs11479 22:50525807:G:A 22 50525807 G A 22:50964236 0.995342 32281 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fatal Infantile Cardioencephalomyopathy;Mitochondrial DNA depletion syndrome 1 (MNGIE type);not provided;not specified Other arterial embolism and thrombosis 0.00137 -0.4889 0.1527 Procreative management 0.0008541 -0.315 0.094 TYMP rs112723255 22:50525826:C:T 22 50525826 C T 22:50964255 0.986588 20619 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fatal Infantile Cardioencephalomyopathy;Mitochondrial DNA depletion syndrome 1 (MNGIE type);not provided;not specified Conductive hearing loss, unspecified 0.00103 0.3154 0.0961 Hyperfunction of pituitary gland 0.001025 1.34 0.408 TYMP rs551975117 22:50526006:C:T 22 50526006 C T 22:50964435 0.985659 2033 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Gestational [pregnancy-induced] oedema and proteinuria without hypertension 0.000507 2.0237 0.582 Other and unspecified trigeminal disorders 0.001069 74.775 22.855 TYMP rs762630777 22:50526377:A:C 22 50526377 A C 22:50964806 0.986523 1368 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Fatal Infantile Cardioencephalomyopathy;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency Disorders of orbit 0.000128 2.5223 0.6584 Chirrosis of liver, NAS 0.001055 64.663 19.742 TYMP rs778306525 22:50526410:G:A 22 50526410 G A 22:50964839 0.986528 1368 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Fatal Infantile Cardioencephalomyopathy;Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency Disorders of orbit 0.000128 2.5223 0.6584 Chirrosis of liver, NAS 0.001055 64.663 19.742 TYMP rs143789597 22:50529311:C:T 22 50529311 C T 22:50967740 0.978273 244 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified erythematous conditions 0.00204 7.6899 2.4929 CHKB rs141381896 22:50579775:T:C 22 50579775 T C 22:51018204 0.997551 548 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other necrotizing vasculopathies (FG) 0.000726 3.282 0.9712 CHKB rs138205828 22:50582633:T:C 22 50582633 T C 22:51021062 0.864839 0.00128202 0 471 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pure hypercholesterolaemia 5.66e-06 1.2386 0.2729 ARSA rs6151428 22:50625182:C:T 22 50625182 C T 22:51063610 0.937896 4534 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Metachromatic leukodystrophy;not provided;not specified Attention to artificial openings 0.000417 1.7522 0.4965 Dementia due to Parkinsons disease 0.0001041 23.484 6.051 ARSA rs28940893 22:50625392:G:A 22 50625392 G A 22:51063820 0.989963 382 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other abnormal findings in urine 0.000239 9.2602 2.5204 ARSA rs743616 22:50625611:G:C 22 50625611 G C 22:51064039 0.998873 88764 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic ulcer of skin, not elsewhere classified 0.000209 0.2247 0.0606 Malignant neoplasm, without specification of site (other cancers excluded from controls) 0.001176 -0.189 0.058 ARSA rs2071421 22:50625988:T:C 22 50625988 T C 22:51064416 0.992049 22327 missense_variant recessive Benign/Likely benign, other (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter ARYLSULFATASE A POLYMORPHISM;Metachromatic leukodystrophy;not provided;not specified Other specified cerebrovascular diseases, other cerebrovascular disorders in diseases classified elsewhere 0.000907 -0.3611 0.1088 ILD-related co-morbidities 0.0009116 -0.138 0.042 ARSA rs201251634 22:50626859:G:A 22 50626859 G A 22:51065287 0.99443 9334 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Metachromatic leukodystrophy Congenital malformations of cardiac septa 0.000429 0.6531 0.1855 Certain zoonotic bacterial diseases 0.0001249 10.033 2.615 ARSA rs6151415 22:50626933:C:A 22 50626933 C A 22:51065361 0.977841 23755 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Metachromatic leukodystrophy;not provided;not specified Non-small cell lung cancer, squamous 0.000319 0.6084 0.169 Pleural plaque 0.0005436 0.927 0.268 ARSA rs74315457 22:50626976:A:C 22 50626976 A C 22:51065404 0.904658 171 missense_variant recessive Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dermatitis herpetiformis 0.000313 14.8664 4.1247 SHANK3 rs9616915 22:50679152:T:C 22 50679152 T C 22:51117580 0.999418 91752 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Prolonged pregnancy 0.000148 0.1454 0.0383 Varicose veins 0.0002534 -0.044 0.012 SHANK3 rs61729471 22:50714943:G:A 22 50714943 G A 22:51153371 0.978919 14870 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter History of neurodevelopmental disorder;not provided;not specified Maternal care for known or suspected abnormality of pelvic organs 0.000154 0.2541 0.0671 Falls/tendenct to fall 0.000708 1.48 0.437 SHANK3 rs139686326 22:50721350:G:A 22 50721350 G A 22:51159778 0.908444 745 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of breast 0.000763 2.3175 0.6885 Other disorders of breast and lactation associated with childbirth 0.000905 81.831 24.659 SHANK3 rs201483867 22:50721726:G:A 22 50721726 G A 22:51160154 0.994329 467 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 1 diabetes with coma 0.0015 2.7759 0.8744 ACR rs5771002 22:50744827:A:G 22 50744827 A G 22:51183255 0.963402 75605 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of optic [2nd] nerve and visual pathways 0.000214 0.2437 0.0658 Other disorders of optic [2nd] nerve and visual pathways 0.0001542 0.161 0.043 GYG2 rs11797037 23:2843009:C:T 23 2843009 C T X:2761050 0.96273 23896 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanoma in situ 0.000558 0.3665 0.1062 GYG2 rs2306734 23:2859944:C:T 23 2859944 C T X:2777985 0.97707 44945 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease, wide definition 0.000824 0.0733 0.0219 GYG2 rs2306735 23:2861529:A:G 23 2861529 A G X:2779570 0.977812 44783 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fissure and fistula of anal and rectal regions 0.000119 0.0852 0.0221 GYG2 rs17330993 23:2861708:C:T 23 2861708 C T X:2779749 0.949021 5689 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Complications of other internal prosthetic devices, implants and grafts 0.000489 0.8673 0.2487 ARSE rs35143646 23:2938114:C:T 23 2938114 C T X:2856155 0.923832 49044 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Secondary malignant neoplasm of other and unspecified sites (other cancers excluded from controls) 0.000372 0.3985 0.112 ARSH rs148947485 23:3015059:C:A 23 3015059 C A X:2933100 0.98588 4903 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of skin of scalp and neck (other cancers excluded from controls) 0.000282 1.5641 0.4308 ARSH rs142811205 23:3015192:G:A 23 3015192 G A X:2933233 0.961621 1429 missense_variant unknown Likely benign (likely)Benign no assertion criteria provided no_Criteria Other and unspecified acute skin changes due to ultraviolet radiation 0.00153 1.5357 0.4845 ARSH rs146832237 23:3027348:C:T 23 3027348 C T X:2945389 0.876237 2144 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other juvenile arthritis 0.000143 1.2909 0.3395 ARSH rs61751925 23:3027436:C:T 23 3027436 C T X:2945477 0.953793 0.0957843 17186 18004 missense_variant unknown Benign (likely)Benign no assertion criteria provided no_Criteria Moderate visual impairment, binocular 5.59e-05 0.4915 0.122 ARSH rs61995755 23:3033185:C:G 23 3033185 C G X:2951226 0.903771 0.00368548 618 736 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Lichen simplex chronicus and prurigo 4.11e-06 2.3854 0.5179 MXRA5 rs148675322 23:3310925:C:G 23 3310925 C G X:3228966 0.938544 994 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other benign neoplasm of uterus: Other parts/unspecified (other cancers excluded from controls) 0.000616 1.6884 0.4931 MXRA5 rs41305155 23:3321295:G:A 23 3321295 G A X:3239336 0.969971 1065 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of rectum 0.000852 1.012 0.3034 MXRA5 rs41297257 23:3321787:T:C 23 3321787 T C X:3239828 0.941753 225 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Secondary right heart disease 0.000113 6.2544 1.6201 MXRA5 rs139106444 23:3322197:C:T 23 3322197 C T X:3240238 0.960535 896 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otitis media, unspecified 0.000395 0.9487 0.2677 MXRA5 rs41304689 23:3323205:G:C 23 3323205 G C X:3241246 0.952316 0.00650266 978 1411 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Open wound of shoulder and upper arm 5.18e-05 3.3685 0.8323 MXRA5 rs144991234 23:3324298:T:C 23 3324298 T C X:3242339 0.974334 1879 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ganglion 0.000234 0.4482 0.1218 MXRA5 rs150226777 23:3324744:G:T 23 3324744 G T X:3242785 0.93718 1388 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Rash and other nonspecific skin eruption 0.00138 0.7511 0.2348 STS rs141215364 23:7325495:A:G 23 7325495 A G X:7243536 0.971524 444 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertrophic scar 0.000385 2.7938 0.787 ANOS1 rs808119 23:8536792:C:T 23 8536792 C T X:8504833 0.971531 50506 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Elevated erythrocyte sedimentation rate and abnormality of plasma viscosity 0.000209 0.1667 0.045 FAM9B rs141078293 23:9029399:G:A 23 9029399 G A X:8997440 0.985088 1106 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm of major salivary glands 0.000292 1.1064 0.3055 WWC3 rs61748714 23:10067421:G:A 23 10067421 G A X:10035461 0.913778 1144 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi (other cancers excluded from controls) 0.000152 0.6221 0.1643 WWC3 rs140383059 23:10134514:G:A 23 10134514 G A X:10102554 0.998292 0.0165874 2656 3438 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter STROKE 8.02e-05 0.181 0.0459 WWC3 rs55730294 23:10136709:C:A 23 10136709 C A X:10104749 0.998863 3507 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter STROKE 0.000164 0.1717 0.0455 WWC3 rs56399961 23:10136714:C:T 23 10136714 C T X:10104754 0.960627 1523 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (Late onset) (more controls excluded) 0.000898 -0.5913 0.1781 MID1 rs149482288 23:10454964:G:A 23 10454964 G A X:10423004 0.968659 302 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Episodal and paroxysmal disorders 0.00184 -0.3168 0.1017 HCCS rs2070163 23:11114949:C:T 23 11114949 C T X:11133069 0.988691 3798 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other lesions of median nerve 0.000907 0.9368 0.2823 ARHGAP6 rs72558047 23:11142299:G:T 23 11142299 G T X:11160419 0.918209 467 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cervical root disorders 0.000318 6.8553 1.904 FRMPD4 rs139449383 23:12614847:G:A 23 12614847 G A X:12632966 0.951091 104 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pre-eclampsia or eclampsia 0.00111 2.1041 0.6451 FRMPD4 rs139151624 23:12718264:A:C 23 12718264 A C X:12736383 0.881964 446 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pollen allergy 0.00146 1.0781 0.3387 TLR7 rs55907843 23:12886173:T:A 23 12886173 T A X:12904292 0.888689 648 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of cervix uteri (other cancers excluded from controls) 0.000351 3.8884 1.0878 TLR7 rs5743781 23:12886851:C:T 23 12886851 C T X:12904970 0.964266 599 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cyst of Bartholin Gland 0.0012 2.5768 0.7955 EGFL6 rs141324039 23:13594871:G:A 23 13594871 G A X:13612990 0.982138 1494 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of cardiac septa 0.000298 1.2082 0.334 GEMIN8 rs61740319 23:14020459:C:A 23 14020459 C A X:14038578 0.914855 1408 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Bacterial, viral and other infectious agents 0.000707 0.849 0.2507 FANCB rs41309679 23:14859282:C:T 23 14859282 C T X:14877404 0.986427 0.081878 14522 15559 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of lumbar spine and pelvis 4.75e-05 0.1937 0.0476 ASB11 rs143492892 23:15289537:T:A 23 15289537 T A X:15307659 0.980798 2631 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for other known or suspected fetal problems 0.000311 0.448 0.1242 PIGA rs34422225 23:15331876:G:A 23 15331876 G A X:15349998 0.99766 3916 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of breast 0.000445 -0.2306 0.0657 PIR rs138504766 23:15456039:G:A 23 15456039 G A X:15474162 0.999423 4008 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter severe traumatic brain injury, does not include concussion 0.00277 0.2564 0.0857 ACE2 rs4646116 23:15600835:T:C 23 15600835 T C X:15618958 0.961164 0.000947227 134 214 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Enterocolitis due to Clostridium difficile 3.9e-05 3.4667 0.8428 NHS rs143065064 23:17635577:C:T 23 17635577 C T X:17653697 0.950142 1691 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Giant cell arteritis with polymyalgia rheumatica 0.000189 1.9145 0.5129 NHS rs150688899 23:17725820:C:T 23 17725820 C T X:17743940 0.983365 2131 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute lymphadenitis 0.000555 0.8166 0.2365 NHS rs143081492 23:17726436:T:C 23 17726436 T C X:17744556 0.941762 315 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Dementia due to Parkinsons disease (more controls excluded) 0.00153 3.8278 1.2076 NHS rs3747295 23:17728124:T:C 23 17728124 T C X:17746244 0.98693 3928 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anaemia in chronic diseases classified elsewhere 0.00026 1.777 0.4866 SCML1 rs142861368 23:17749482:C:T 23 17749482 C T X:17767602 0.966771 505 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lumbosacral root disorders, not elsewhere classified 0.000181 3.2493 0.8678 BEND2 rs147763153 23:18203822:C:T 23 18203822 C T X:18221942 0.969811 589 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Olecranon bursitis 0.000676 1.8197 0.5354 CDKL5 rs35478150 23:18619962:A:C 23 18619962 A C X:18638082 0.991238 0.023599 3820 4850 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hyperplasia of prostate 7.98e-05 0.1688 0.0428 RS1 rs150172233 23:18642131:G:A 23 18642131 G A X:18660251 0.965353 2453 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Burn and corrosion of hip and lower limb, except ankle and foot 0.000117 1.7717 0.4598 PHKA2 rs143732206 23:18918741:T:C 23 18918741 T C X:18936859 0.99228 538 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Peripheral nerves and autonomic nervous system 0.000523 5.4744 1.5782 PHKA2 rs149991825 23:18920043:G:T 23 18920043 G T X:18938161 0.928008 555 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other CVD (FINNGEN) 0.000214 1.3623 0.368 PHKA2 rs148176463 23:18924460:G:C 23 18924460 G C X:18942578 0.986196 2048 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypertensive Renal Disease 0.000118 1.3514 0.3511 PHKA2 rs17313469 23:18954379:C:G 23 18954379 C G X:18972497 0.959148 3700 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of liver and intrahepatic bile ducts 0.000237 1.0777 0.2932 PDHA1 rs2229137 23:19357664:A:C 23 19357664 A C X:19375782 0.977 1368 start_lost dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Radial styloid tenosynovitis [de Quervain] 0.000412 1.3424 0.38 MAP3K15 rs15943 23:19361522:G:C 23 19361522 G C X:19379640 0.961484 304 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes, definitions combined 0.000216 -0.4933 0.1334 MAP3K15 rs200274989 23:19425607:C:T 23 19425607 C T X:19443725 0.954553 128 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dissocial personality disorder 0.000127 13.4693 3.514 MAP3K15 rs55916006 23:19464336:C:T 23 19464336 C T X:19482454 0.905163 196 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pain in joint 0.000215 0.9193 0.2484 SH3KBP1 rs61761898 23:19545924:G:C 23 19545924 G C X:19564042 0.950373 581 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lung transplantation 0.000209 1.5013 0.4048 RPS6KA3 rs144984628 23:20155453:C:T 23 20155453 C T X:20173571 0.987323 2124 missense_variant dominant Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Any death 0.00134 -0.1876 0.0585 RPS6KA3 rs140987045 23:20209392:T:C 23 20209392 T C X:20227510 0.983193 1649 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital iodine-deficiency syndrome/hypothyroidism 0.00241 1.5351 0.5058 RPS6KA3 rs56218010 23:20234771:A:C 23 20234771 A C X:20252889 0.986903 0.0189527 3206 3757 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parapsoriasis 6.51e-05 1.4533 0.3639 PHEX rs370610267 23:22077670:G:A 23 22077670 G A X:22095788 0.863492 248 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Obesity due to excess calories 0.000816 1.1314 0.338 DDX53 rs148588561 23:23000376:G:T 23 23000376 G T X:23018493 0.979661 186 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified disorders of muscle 0.000157 7.7154 2.0413 DDX53 rs143131443 23:23000547:G:A 23 23000547 G A X:23018664 0.85872 164 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified polyneuropathies, also in other diseases 0.000333 2.4016 0.6694 SAT1 rs200440143 23:23783890:C:T 23 23783890 C T X:23802007 0.918063 693 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Residual foreign body in soft tissue 0.000872 1.7158 0.5154 EIF2S3 rs16997659 23:24057745:A:G 23 24057745 A G X:24075862 0.996621 0.141847 26730 25383 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria Other diseases of the respiratory system 8e-05 -0.1508 0.0382 PDK3 rs138321172 23:24503382:A:G 23 24503382 A G X:24521499 0.936129 432 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Toxic effect of contact with venomous animals 0.00182 3.0609 0.9818 POLA1 rs41548013 23:24826487:G:C 23 24826487 G C X:24844604 0.876185 307 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Injury of nerves and spinal cord at neck level 0.000139 6.9455 1.8232 ARX rs778734352 23:25007312:G:C 23 25007312 G C X:25025429 0.968968 762 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Blood alcohol or alcohol intoxication level 0.000712 3.3275 0.9831 ARX rs587783141 23:25013193:C:A 23 25013193 C A X:25031310 0.981581 1864 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Cystitis 0.000647 0.3106 0.091 MAGEB3 rs138581582 23:30236842:G:T 23 30236842 G T X:30254959 0.988129 3937 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydrocele 0.000182 0.3163 0.0845 TAB3 rs150176434 23:30854949:G:A 23 30854949 G A X:30873066 0.965916 1569 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dementia due to Parkinsons disease (more controls excluded) 0.00198 1.5849 0.5124 DMD rs752332058 23:31121883:CTCTGCCCAAATCA:C 23 31121883 CTCTGCCCAAATCA C X:31140000 0.951075 207 pLoF recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Type 2 diabetes with neurological complications 0.000241 2.9905 0.8145 DMD rs760516307 23:31478192:G:A 23 31478192 G A X:31496309 0.810058 274 missense_variant recessive Uncertain significance VUS criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cerebral cysts 0.000881 3.6098 1.0853 DMD rs1800280 23:31478233:C:T 23 31478233 C T X:31496350 0.982037 11357 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Salphingitis and oophoritis 0.00023 -0.2233 0.0606 DMD rs1800279 23:31478281:T:C 23 31478281 T C X:31496398 0.996249 9127 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified injuries of shoulder and upper arm 0.000334 0.7411 0.2066 DMD rs1800278 23:31478309:T:C 23 31478309 T C X:31496426 0.987506 3785 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gastrointestinal diseases 0.000603 0.0732 0.0213 DMD rs41305353 23:31478314:T:A 23 31478314 T A X:31496431 0.987322 3784 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gastrointestinal diseases 0.000572 0.0736 0.0214 DMD rs1800275 23:31875190:T:G 23 31875190 T G X:31893307 0.98808 33734 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Other and unspecified parts of small intestine 0.000172 0.3744 0.0997 DMD rs1800273 23:31968490:G:A 23 31968490 G A X:31986607 0.979674 6535 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Persons with potential health hazards related to family and personal history and certain conditions influencing health status 0.000549 -0.0949 0.0275 DMD rs1801187 23:32362879:C:T 23 32362879 C T X:32380996 0.997184 52002 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Bullous pemphigoid 0.000326 0.3386 0.0942 DMD rs727503828 23:32365035:C:A 23 32365035 C A X:32383152 0.836857 160 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other and unspecified disorders of skin and subcutaneous tissue 0.000567 3.1536 0.9149 DMD rs72468638 23:32386455:T:C 23 32386455 T C X:32404572 0.989019 7392 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of wrist and hand 0.000395 0.2584 0.0729 DMD rs1800269 23:32448508:G:A 23 32448508 G A X:32466625 0.927719 669 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hernia 0.000899 0.2764 0.0833 DMD rs144667422 23:32454820:T:C 23 32454820 T C X:32472937 0.932945 179 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other viral diseases 0.000528 1.6223 0.4681 DMD rs3827462 23:32463465:T:A 23 32463465 T A X:32481582 0.995517 7218 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of eye and orbit 0.00114 -0.2356 0.0724 DMD rs200596739 23:32463545:T:A 23 32463545 T A X:32481662 0.955992 0.00143445 194 333 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hypertrophy of breast 6.76e-05 1.9609 0.4921 DMD rs72468667 23:32468689:C:G 23 32468689 C G X:32486806 0.967169 905 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sequelae of injuries of neck and trunk 0.000135 2.7935 0.7318 DMD rs228406 23:32485077:T:C 23 32485077 T C X:32503194 0.992263 33721 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Somatoform disorder 0.00129 0.113 0.0351 DMD rs72468681 23:32491508:A:C 23 32491508 A C X:32509625 0.958756 1228 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other eating disorders 0.00028 1.4377 0.3957 DMD rs147822019 23:32565760:T:C 23 32565760 T C X:32583877 0.885181 0.000449116 52 113 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Blepharochalasis 9.43e-05 2.5101 0.6428 DMD rs72468692 23:32565806:T:C 23 32565806 T C X:32583923 0.968675 2495 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lesion of lateral popliteal nerve 0.000976 0.8872 0.2691 DMD rs140340626 23:32595846:C:G 23 32595846 C G X:32613963 0.895112 568 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Heart failure,strict 0.000488 -0.4892 0.1403 DMD rs72468699 23:32614448:T:C 23 32614448 T C X:32632565 0.824891 554 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other intervertebral disc disorders 0.00244 -0.3218 0.1062 MAGEB16 rs41304733 23:35802419:G:A 23 35802419 G A X:35820536 0.964533 0.0310897 5116 6306 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified iridocyclitis 9.16e-05 0.8942 0.2286 XK rs145996031 23:37728235:T:G 23 37728235 T G X:37587488 0.940401 0.00368275 574 779 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Conjunctivitis 4.71e-05 0.4494 0.1104 CYBB rs141756032 23:37804069:G:C 23 37804069 G C X:37663322 0.895526 1328 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abscess of anal and rectal regions 0.000631 0.8687 0.2542 CYBB rs151344452 23:37809656:T:A 23 37809656 T A X:37668909 0.876219 86 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Corneal ulcer 0.000804 3.0439 0.9082 SRPX rs1123773 23:38161035:G:A 23 38161035 G A X:38020288 0.984142 1878 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Superficial injury of hip and thigh 0.000178 0.6927 0.1848 RPGR rs12688514 23:38285569:C:T 23 38285569 C T X:38144822 0.999177 18630 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified and unspecified personality disorders 0.00117 0.1746 0.0538 RPGR rs62636730 23:38285768:A:T 23 38285768 A T X:38145021 0.996448 5111 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Otitis media, unspecified 0.000172 0.387 0.103 RPGR rs1801688 23:38287917:C:T 23 38287917 C T X:38147170 0.999135 0.0875804 15574 16602 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vestibular neuronitis 9.8e-05 0.2712 0.0696 RPGR rs41312104 23:38288016:G:A 23 38288016 G A X:38147269 0.997445 5127 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Otitis media, unspecified 0.000277 0.3728 0.1025 RPGR rs1309869282 23:38288032:TTTG:T 23 38288032 TTTG T X:38147285 0.996756 5136 inframe_indel recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Otitis media, unspecified 0.000183 0.3848 0.1028 RPGR rs144635565 23:38297331:T:C 23 38297331 T C X:38156584 0.993692 2257 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pterygium 0.000275 1.3119 0.3607 RPGR rs62635003 23:38297407:T:C 23 38297407 T C X:38156660 0.998878 12115 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Extrapyramidal and movement disorders 0.000321 -0.1441 0.04 RPGR rs1801687 23:38297424:C:T 23 38297424 C T X:38156677 0.998312 0.0876321 15554 16641 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Vestibular neuronitis 7.68e-05 0.2756 0.0697 RPGR rs41305223 23:38301273:T:C 23 38301273 T C X:38160526 0.99472 1785 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other necrotizing vasculopathies 0.000314 1.0137 0.2813 RPGR rs111631988 23:38322877:T:C 23 38322877 T C X:38182130 0.980094 517 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Extrapyramidal and movement disorders 0.00173 0.6624 0.2114 OTC rs1800321 23:38367350:A:G 23 38367350 A G X:38226603 0.998816 0.178555 34962 30637 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Otitis media, unspecified 1.98e-06 0.2035 0.0428 OTC rs1800328 23:38408967:A:G 23 38408967 A G X:38268220 0.986461 6755 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of skin (other cancers excluded from controls) 0.00068 0.3628 0.1068 TSPAN7 rs104894951 23:38675778:C:A 23 38675778 C A X:38535032 0.977038 225 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Allergic purpura 0.000247 5.3548 1.4609 BCOR rs200052076 23:40074400:G:A 23 40074400 G A X:39933653 0.928877 687 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Muscle strain 0.000725 2.9021 0.8586 ATP6AP2 rs9014 23:40591333:C:G 23 40591333 C G X:40450585 0.968526 4069 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental and behavioural disorders due to cannabinoids 0.000212 0.8635 0.2331 EFHC2 rs3747354 23:44232582:C:G 23 44232582 C G X:44091828 0.966421 1393 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Corns and callosities 0.000728 0.9595 0.284 EFHC2 rs201560745 23:44261277:C:T 23 44261277 C T X:44120523 0.952288 120 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Drug-induced hypoglycaemia without coma 0.000576 11.6835 3.3936 EFHC2 rs61636783 23:44312629:C:T 23 44312629 C T X:44171875 0.901981 96 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic viral hepatitis 0.00148 7.9387 2.4969 KDM6A rs138723332 23:45061396:T:C 23 45061396 T C X:44920641 0.85493 279 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Disorders of puberty 0.000152 8.5289 2.252 KDM6A rs141353229 23:45063645:C:T 23 45063645 C T X:44922890 0.818167 277 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of vestibular function (Vertigo) 0.000579 0.8322 0.2418 KDM6A rs2230018 23:45069832:C:A 23 45069832 C A X:44929077 0.997614 0.167305 32562 28904 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other specified and unspecified disorders of eye and adnexa 6.15e-06 0.3344 0.074 ZNF674 rs201621696 23:46500882:T:C 23 46500882 T C X:46360317 0.944549 0.0166609 2706 3415 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Open wound of hip and thigh 1.92e-05 1.2589 0.2945 ZNF674 rs182004761 23:46500988:G:A 23 46500988 G A X:46360423 0.891636 305 pLoF unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Sequelae of injuries of upper limb 0.000198 2.2644 0.6085 RP2 rs201714711 23:46853569:G:A 23 46853569 G A X:46713004 0.863822 335 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of trunk 0.000108 2.3906 0.6175 RP2 rs1805147 23:46860063:C:T 23 46860063 C T X:46719498 0.95108 3935 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Panniculitis, unspecified 0.000478 1.8394 0.5266 UBA1 rs2070169 23:47203135:G:A 23 47203135 G A X:47062534 0.985116 11435 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Migraine, single triptan purchase ok & required. ICD-code if available is included 0.000504 0.1126 0.0324 UBA1 rs150574055 23:47206074:C:G 23 47206074 C G X:47065473 0.987534 0.0240999 3966 4888 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Lip 7.26e-05 1.1136 0.2807 CDK16 rs17550472 23:47223273:C:T 23 47223273 C T X:47082672 0.970273 0.00500833 834 1006 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Stroke, including SAH 1.11e-05 0.4263 0.097 ZNF41 rs144904486 23:47447656:C:T 23 47447656 C T X:47307055 0.980389 0.00100983 150 221 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Congenital iodine-deficiency syndrome/hypothyroidism 6.27e-05 8.797 2.198 ZNF41 rs144970008 23:47447773:G:A 23 47447773 G A X:47307172 0.939983 113 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Transient global amnesia 0.000327 4.5451 1.265 ZNF41 rs2498170 23:47448825:A:C 23 47448825 A C X:47308224 0.971025 1769 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Heart failure,strict 0.00201 -0.2273 0.0736 ZNF41 rs17147624 23:47449396:A:C 23 47449396 A C X:47308795 0.995793 3824 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other renal tubulo-interstitial diseases 0.000912 1.0001 0.3016 TIMP1 rs149986790 23:47586642:G:A 23 47586642 G A X:47446041 0.970774 0.00118676 162 274 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hydrocephalus 9.36e-05 4.4703 1.1443 CFP rs61737993 23:47626818:C:T 23 47626818 C T X:47486217 0.968173 1378 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified nail disorders 0.000419 3.1419 0.8906 ZNF81 rs183846665 23:47846275:C:T 23 47846275 C T X:47705674 0.939112 716 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Colon 0.000123 0.5849 0.1523 ZNF81 rs41312157 23:47915116:A:G 23 47915116 A G X:47774515 0.915383 515 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Autoimmune thyroiditis 0.000595 4.3244 1.2593 ZNF81 rs186251256 23:47915200:C:T 23 47915200 C T X:47774599 0.989509 1856 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital musculoskeletal deformities of head, face, spine and chest 0.000162 3.0244 0.802 ZNF81 rs182239885 23:47916141:A:G 23 47916141 A G X:47775540 0.963563 726 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Abnormalities of heart beat 0.00022 0.6302 0.1706 SLC38A5 rs17281188 23:48459000:A:G 23 48459000 A G X:48317386 0.99859 13880 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the urinary system 0.00113 0.0693 0.0213 EBP rs141925556 23:48528275:C:T 23 48528275 C T X:48386663 0.97205 169 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Infective dermatitis 0.000835 2.6411 0.7905 WAS rs146220228 23:48685764:G:A 23 48685764 G A X:48544153 0.973597 1232 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Pyogenic granuloma 0.000722 2.8071 0.8303 WAS rs2737799 23:48688723:T:C 23 48688723 T C X:48547112 0.993467 0.00668231 1032 1423 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Polymyalgia rheumatica 1.74e-05 1.1368 0.2646 SLC35A2 rs55719932 23:48911594:G:T 23 48911594 G T X:48768871 0.971052 5522 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abscess of external ear 0.000116 1.2124 0.3146 KCND1 rs3027482 23:48966649:G:C 23 48966649 G C X:48823056 0.975544 456 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Rectum, anus and anal canal (other cancers excluded from controls) 0.00019 1.2734 0.3412 GRIPAP1 rs145705450 23:48997338:C:T 23 48997338 C T X:48853750 0.985848 1685 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute and transient psychotic disorders 0.00172 0.525 0.1674 PLP2 rs56121332 23:49172016:C:T 23 49172016 C T X:49028363 0.951904 955 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of breast (other cancers excluded from controls) 0.000527 0.5579 0.1609 SYP rs139475570 23:49191502:C:T 23 49191502 C T X:49047959 0.956689 758 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Endocrine, nutritional and metabolic diseases 0.000277 0.1995 0.0549 CACNA1F rs33910054 23:49205282:C:T 23 49205282 C T X:49061742 0.992397 15433 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Short bones of upper limb (other cancers excluded from controls) 0.000246 0.6853 0.1869 CACNA1F rs782062403 23:49219735:CTCTTCCTCT:C 23 49219735 CTCTTCCTCT C X:49076194 0.986002 352 inframe_indel recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of urethra and urinary system 0.000881 -0.5771 0.1735 CACNA1F rs141159097 23:49222720:T:G 23 49222720 T G X:49079179 0.950872 381 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contact with and exposure to communicable diseases 0.000452 2.3272 0.6634 CACNA1F rs143938580 23:49223035:G:C 23 49223035 G C X:49079494 0.975076 507 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dependent personality disorder 0.000971 3.4932 1.0589 CACNA1F rs141010716 23:49224768:C:T 23 49224768 C T X:49081230 0.95915 258 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Epidural haemorrhage 0.000218 11.3317 3.0647 CACNA1F rs34162630 23:49226037:C:T 23 49226037 C T X:49082499 0.989913 7096 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Phakomatoses, not elsewhere classified 0.000252 1.2648 0.3455 CACNA1F rs184711457 23:49228438:G:A 23 49228438 G A X:49084900 0.972452 1454 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium 0.00214 -0.4473 0.1457 CCDC22 rs142489693 23:49242913:T:C 23 49242913 T C X:49099379 0.989479 3711 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ectropion of eyelid 0.000565 0.9044 0.2623 CCDC22 rs143790434 23:49248248:C:T 23 49248248 C T X:49104709 0.927945 272 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of skin and subcutaneous tissue, not elsewhere classified 0.000914 1.3589 0.4099 CCDC22 rs144632022 23:49248482:G:A 23 49248482 G A X:49104943 0.996572 3610 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of femur 0.000408 0.2986 0.0845 CCDC22 rs147222955 23:49249509:G:A 23 49249509 G A X:49105970 0.972866 568 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Nausea and vomiting 0.000218 0.8658 0.2342 USP27X rs188199174 23:49881346:A:G 23 49881346 A G X:49645949 0.977572 4995 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Type 2 diabetes, definitions combined 0.000132 0.1172 0.0307 SHROOM4 rs12689863 23:50607408:G:A 23 50607408 G A X:50350408 0.950557 1177 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Allergic conjunctivitis 0.000935 0.3573 0.108 SHROOM4 rs201922875 23:50607758:C:CTGCTGCTGCTGT 23 50607758 C CTGCTGCTGCTGT X:50350758 0.996088 40435 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Unspecified mental disorder 0.000235 -0.081 0.022 SHROOM4 rs144727288 23:50633881:T:C 23 50633881 T C X:50376881 0.965616 523 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Impacted cerumen 0.000476 2.1152 0.6054 SHROOM4 rs150861758 23:50634194:G:A 23 50634194 G A X:50377194 0.980469 172 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hydatidiform mole 0.000322 14.4621 4.021 SHROOM4 rs142052951 23:50635564:T:C 23 50635564 T C X:50378564 0.974435 6953 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease, wide definition 0.00212 -0.1726 0.0562 BMP15 rs41308602 23:50911091:A:G 23 50911091 A G X:50654091 0.99371 16083 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of gallbladder, biliary tract and pancreas 0.000187 0.07 0.0187 BMP15 rs104894767 23:50915966:G:A 23 50915966 G A X:50658966 0.884089 0.0171154 2716 3572 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Pericarditis 7.71e-05 0.9988 0.2526 BMP15 rs141218518 23:50916009:T:C 23 50916009 T C X:50659009 0.980111 1062 missense_variant unknown Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Focal brain injury 0.000105 1.2146 0.3132 BMP15 rs371124071 23:50916210:C:CTCT 23 50916210 C CTCT X:50659210 0.869096 95 inframe_indel unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other ILD-related CVD-co-morbidities 0.00124 2.8088 0.8696 KDM5C rs140506776 23:53193451:G:A 23 53193451 G A X:53222633 0.919218 594 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Psoriasis 0.00379 0.5906 0.204 IQSEC2 rs149027201 23:53250984:C:G 23 53250984 C G X:53280166 0.85786 462 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on diagnostic imaging of lung 0.000176 0.6739 0.1796 SMC1A rs146216425 23:53380647:G:A 23 53380647 G A X:53407568 0.970127 893 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Injury of eye and orbit 0.0015 0.6376 0.2008 HUWE1 rs145758265 23:53600199:T:C 23 53600199 T C X:53627159 0.880519 1169 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other/unspecified enthesopathies of lower limb, excluding foot 0.00034 1.1348 0.3168 HUWE1 rs41307640 23:53627451:T:C 23 53627451 T C X:53654402 0.98279 0.0112579 1770 2366 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of eyelid, lacrimal system and orbit 9.58e-05 -0.2203 0.0565 FGD1 rs138723423 23:54470441:C:T 23 54470441 C T X:54496874 0.950816 703 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other bursitis of knee 0.000242 5.0181 1.3673 FGD1 rs145644275 23:54471400:C:T 23 54471400 C T X:54497833 0.919191 257 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fourth [trochlear] nerve palsy 0.000248 7.205 1.9664 FGD1 rs75659311 23:54495323:G:A 23 54495323 G A X:54521756 0.88858 494 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other disorders of breast 0.000572 1.6155 0.469 GNL3L rs748797074 23:54540229:TAAA:T 23 54540229 TAAA T X:54566662 0.860673 0.0044204 712 912 inframe_indel unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of pelvic peritoneum 9.44e-05 0.9637 0.2468 APEX2 rs2301416 23:55002430:C:T 23 55002430 C T X:55028863 0.896049 1085 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Long bones of lower limb 0.000914 1.8536 0.559 ALAS2 rs201062903 23:55013527:G:A 23 55013527 G A X:55039960 0.908658 0.000802966 132 163 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Stenosis and insufficiency of lacrimal passages 4.73e-05 4.011 0.9858 ALAS2 rs141305388 23:55014748:C:T 23 55014748 C T X:55041181 0.90891 211 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Crohn disease 0.000879 1.8471 0.5553 ALAS2 rs189947718 23:55027805:C:T 23 55027805 C T X:55054238 0.848616 0.00161138 242 350 start_lost recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Ulcer of vagina/vulva 4.21e-05 9.0049 2.1988 KLF8 rs146429909 23:56265420:A:G 23 56265420 A G X:56291853 0.953301 1517 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Colon, unspecified (other cancers excluded from controls) 0.000624 0.4598 0.1344 FAAH2 rs146874627 23:57286949:C:T 23 57286949 C T X:57313382 0.982878 1614 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pre-existing hypertension complicating pregnancy, childbirth and the puerperium 0.000402 1.1114 0.314 AMER1 rs142654101 23:64191414:T:C 23 64191414 T C X:63411294 0.871565 162 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Dermatitis due to substances taken internally 0.00133 3.1267 0.9743 AMER1 rs34677493 23:64192810:A:C 23 64192810 A C X:63412690 0.985805 379 missense_variant dominant not provided not_provided no assertion provided none Hydrocele 0.000652 0.9525 0.2794 AMER1 rs146489129 23:64192886:T:G 23 64192886 T G X:63412766 0.914057 479 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mental retardation 0.00349 1.7932 0.6139 VSIG4 rs41307375 23:66022315:G:A 23 66022315 G A X:65242157 0.978883 1852 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Optic atrophy 0.00139 1.901 0.5946 VSIG4 rs41306131 23:66033612:C:A 23 66033612 C A X:65253454 0.978918 1853 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Optic atrophy 0.00139 1.9009 0.5946 HEPH rs35835670 23:66197877:G:A 23 66197877 G A X:65417719 0.987442 6025 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on examination of urine, without diagnosis 0.000697 0.5702 0.1681 HEPH rs143121749 23:66203394:G:A 23 66203394 G A X:65423236 0.918429 172 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Wegener granulomatosis 1e-04 13.2803 3.4142 EDA2R rs12837393 23:66604439:G:A 23 66604439 G A X:65824281 0.966071 201 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acohol-induced acute pancreatitis 0.00131 4.3509 1.3537 EDA2R rs73221529 23:66615999:A:G 23 66615999 A G X:65835841 0.965621 759 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic nephritic syndrome 0.000193 1.8582 0.4985 AR rs137852593 23:67717484:G:T 23 67717484 G T X:66937326 0.977574 1704 missense_variant both Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Malignant neoplasm of prostate 0.000224 0.3435 0.0931 AR rs137852591 23:67721909:C:G 23 67721909 C G X:66941751 0.951089 0.00302133 462 648 missense_variant both Likely pathogenic (likely)Pathogenic criteria provided, single submitter Criteria_oneSubmitter Melanocytic naevi of eyelid, including canthus 4.52e-05 8.0238 1.9669 OPHN1 rs143713841 23:68063983:G:T 23 68063983 G T X:67283825 0.900877 0.00146984 216 324 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pleural effusion 4.01e-05 2.3626 0.5753 OPHN1 rs41303733 23:68432906:C:T 23 68432906 C T X:67652748 0.98325 15887 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Faecal incontinence 0.00022 0.304 0.0823 STARD8 rs201848778 23:68717653:A:G 23 68717653 A G X:67937495 0.945737 274 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons with potential health hazards related to communicable diseases 0.00111 1.6796 0.5149 STARD8 rs201953116 23:68720352:C:T 23 68720352 C T X:67940194 0.850384 0.000860126 138 178 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic suppurative otitis media 1.84e-05 7.3613 1.7185 PJA1 rs142769836 23:69161322:G:C 23 69161322 G C X:68381165 0.968888 0.0112089 1838 2280 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Medical abortion 5.08e-05 0.332 0.0819 PJA1 rs143670774 23:69161954:C:T 23 69161954 C T X:68381797 0.944468 375 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seborrhoeic dermatitis 0.00117 1.5677 0.4829 EDA rs132630309 23:69616514:G:T 23 69616514 G T X:68836358 0.864518 156 missense_variant both Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Nonalcoholic fatty liver disease 0.000968 4.5353 1.3744 EDA rs142948132 23:70035434:G:A 23 70035434 G A X:69255284 0.82551 69 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Carcinoma in situ of skin of trunk 0.00019 16.1046 4.3153 IGBP1 rs61755732 23:70146758:T:C 23 70146758 T C X:69366608 0.918047 1648 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Essential (haemorrhagic) thrombocythaemia 0.00271 1.4055 0.4687 ARR3 rs12857550 23:70278632:C:G 23 70278632 C G X:69498482 0.92869 0.00896328 1474 1819 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Residual foreign body in soft tissue 4.09e-05 1.2987 0.3166 KIF4A rs2297871 23:70352640:C:T 23 70352640 C T X:69572490 0.968308 0.00514715 806 1085 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Caecum (other cancers excluded from controls) 8.34e-05 1.5898 0.4041 DLG3 rs11797456 23:70445505:G:A 23 70445505 G A X:69665355 0.89598 554 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Perichondritis of external ear 0.00235 4.1179 1.3536 IL2RG rs148001866 23:71108343:C:T 23 71108343 C T X:70328193 0.957408 5493 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Medical abortion 0.00147 -0.1688 0.0531 IL2RG rs17875899 23:71110633:C:T 23 71110633 C T X:70330483 0.938436 919 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Symptoms and signs involving emotional state 0.001 2.0649 0.6277 NLGN3 rs144914894 23:71169504:A:G 23 71169504 A G X:70389354 0.946961 88 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Failed attempted abortion 0.000684 25.4706 7.5003 ZMYM3 rs151152741 23:71246640:G:C 23 71246640 G C X:70466490 0.957741 2424 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Non-allergic asthma 0.00114 0.3756 0.1154 NONO rs138148374 23:71298714:G:T 23 71298714 G T X:70518564 0.950591 2346 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Seborrhoeic keratosis 0.000256 0.5222 0.1428 ITGB1BP2 rs138204346 23:71301843:C:T 23 71301843 C T X:70521693 0.967288 0.00723758 1148 1511 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Generalized anxiety disorder 8.99e-05 0.7868 0.2009 TAF1 rs28382158 23:71377696:C:G 23 71377696 C G X:70597546 0.955118 1081 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Varicose veins of other sites 0.000275 1.1612 0.3192 TAF1 rs147517498 23:71460710:A:G 23 71460710 A G X:70680560 0.978454 6579 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Malignant neoplasm of skin (other cancers excluded from controls) 0.000403 -0.1508 0.0426 PHKA1 rs201573707 23:72581151:T:C 23 72581151 T C X:71801001 0.957249 292 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Migraine 0.00141 0.7466 0.2338 PHKA1 rs151279562 23:72619264:G:A 23 72619264 G A X:71839114 0.820813 69 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Hypothermia 0.000229 17.9183 4.8636 CDX4 rs145092385 23:73447453:C:A 23 73447453 C A X:72667289 0.955561 248 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other female pelvic inflammatory diseases 0.000514 1.8116 0.5216 SLC16A2 rs6647476 23:74421734:T:C 23 74421734 T C X:73641569 0.994379 0.53444 144824 51523 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Female genital prolapse 2.15e-05 -0.0839 0.0197 RLIM rs113452581 23:74592782:T:G 23 74592782 T G X:73812617 0.996389 0.00136096 210 290 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cleft lip and cleft palate 3.15e-05 12.4812 2.9986 KIAA2022 rs143577015 23:74740311:G:A 23 74740311 G A X:73960146 0.988363 215 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 0.000355 2.0396 0.5711 KIAA2022 rs41306133 23:74741756:T:C 23 74741756 T C X:73961591 0.994895 0.0187486 3026 3862 missense_variant unknown Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Malignant neoplasm of testis 8.26e-05 1.4611 0.3712 KIAA2022 rs141776597 23:74742459:C:G 23 74742459 C G X:73962294 0.955597 56 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gonarthrosis, primary, with knee surgery 0.000894 1.7965 0.5408 ABCB7 rs139311518 23:75071542:T:C 23 75071542 T C X:74291377 0.927019 143 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Central retinal artery occlusion 0.00512 7.8947 2.8203 ABCB7 rs147584361 23:75073874:C:T 23 75073874 C T X:74293709 0.91125 0.00148072 236 308 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Stenosis and insufficiency of lacrimal passages 6.67e-05 2.6387 0.6617 ABCB7 rs61323727 23:75114753:C:T 23 75114753 C T X:74334588 0.975903 1008 pLoF recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Pyogenic arthritis 0.000334 1.2219 0.3406 ZDHHC15 rs144514141 23:75431511:A:T 23 75431511 A T X:74651346 0.975175 135 missense_variant dominant Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on diagnostic imaging of lung 0.000544 1.4223 0.4113 MAGEE1 rs146995693 23:76428304:G:A 23 76428304 G A X:75648697 0.993022 4307 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pathological/recurrent dislocation and subluxation of joint, not elsewhere classified 0.000172 0.488 0.1299 ATRX rs45439799 23:77600552:T:C 23 77600552 T C X:76856021 0.961108 2227 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acute peritonitis 0.00189 0.6898 0.2221 ATRX rs61758732 23:77681715:C:G 23 77681715 C G X:76937207 0.968251 0.00962742 1508 2029 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Alzheimer's disease (Late onset) 7.93e-05 0.5658 0.1434 ATRX rs200709847 23:77682333:C:T 23 77682333 C T X:76937825 0.926221 478 missense_variant both Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sixth [abducent] nerve palsy 0.000606 3.4811 1.0152 ATRX rs143413618 23:77682536:C:T 23 77682536 C T X:76938028 0.826854 34 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other orthopaedic follow-up care 0.000555 11.8525 3.4327 ATRX rs61752455 23:77682661:G:C 23 77682661 G C X:76938153 0.99187 2646 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Acne 0.00154 0.5536 0.1748 MAGT1 rs140854076 23:77895395:G:A 23 77895395 G A X:77150892 0.971495 304 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Malignant neoplasm of bronchus and lung (other cancers excluded from controls) 0.000157 1.8729 0.4955 PGAM4 rs62621209 23:77969382:C:T 23 77969382 C T X:77224879 0.96034 9727 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral pneumonia (known virus, not influenza) 0.00022 -0.4819 0.1304 ATP7A rs782415705 23:77988330:G:A 23 77988330 G A X:77243826 0.815722 0.000862848 144 173 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Degenerative macular diseases 7.11e-05 2.7851 0.7011 ATP7A rs782729433 23:78011240:G:A 23 78011240 G A X:77266737 0.912808 51 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified injuries of head 0.00267 10.4594 3.4827 ATP7A rs2227291 23:78013005:G:C 23 78013005 G C X:77268502 0.999338 36655 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Anus and anal canal (other cancers excluded from controls) 0.000196 0.3109 0.0835 ATP7A rs138958687 23:78021066:A:G 23 78021066 A G X:77276563 0.995005 1323 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Toxic effects of substances chiefly nonmedicinal as to source 0.000681 0.7066 0.208 LPAR4 rs148919808 23:78755002:G:A 23 78755002 G A X:78010499 0.931886 298 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Lack of expected normal physiological development 0.000316 7.3877 2.0513 TBX22 rs34244923 23:80025703:G:A 23 80025703 G A X:79281202 0.994749 0.0814833 14216 15720 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other specified disorders of kidney and ureter 7.64e-05 0.5102 0.129 HMGN5 rs142173136 23:81119810:C:A 23 81119810 C A X:80375309 0.895325 175 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter ILD differential diagnosis 0.000274 -0.3675 0.101 POF1B rs363774 23:85308129:T:A 23 85308129 T A X:84563135 0.992762 31361 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Anorexia (incl.atypical) 0.00143 -0.1871 0.0587 POF1B rs75398746 23:85308188:C:T 23 85308188 C T X:84563194 0.967456 313 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Left bundle-branch block 0.000912 2.7186 0.8198 POF1B rs149085556 23:85314446:G:A 23 85314446 G A X:84569452 0.957287 1151 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Atopic dermatitis 0.000189 0.4598 0.1232 POF1B rs147563033 23:85345867:C:G 23 85345867 C G X:84600873 0.987737 3012 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Congenital musculoskeletal deformities of head, face, spine and chest 0.000166 2.0384 0.5413 CHM rs145707160 23:85978816:T:A 23 85978816 T A X:85233820 0.978125 2849 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gestational [pregnancy-induced] hypertension 0.00275 -0.444 0.1483 CPXCR1 rs41307393 23:88754169:G:C 23 88754169 G C X:88009170 0.954606 0.0143608 2378 2898 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter COPD, early/later onset 7.9e-05 -0.2917 0.0739 PCDH11X rs4252205 23:92201394:G:A 23 92201394 G A X:91456393 0.997466 4061 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Frostbite 0.000374 1.4392 0.4045 DIAPH2 rs20374 23:96738667:G:A 23 96738667 G A X:95993666 0.988398 1481 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Respiratory distress of newborn 0.000954 2.8801 0.8718 PCDH19 rs191333060 23:100296405:G:C 23 100296405 G C X:99551403 0.947719 133 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Other disorders of skin and subcutaneous tissue, not elsewhere classified 0.000314 2.3319 0.6472 PCDH19 rs200728466 23:100407304:T:C 23 100407304 T C X:99662302 0.88835 355 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified injuries of wrist and hand 0.000127 5.0567 1.3197 PCDH19 rs201713027 23:100407829:C:G 23 100407829 C G X:99662827 0.913243 227 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Organic, including symptomatic, mental disorders 0.00136 -0.8088 0.2525 TNMD rs141371868 23:100585294:A:G 23 100585294 A G X:99840291 0.911355 585 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of spinal cord 0.000171 3.9367 1.0473 SRPX2 rs142719253 23:100665569:C:A 23 100665569 C A X:99920566 0.888251 0.000952671 140 210 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Hyperlipidaemia, other/unspecified 5.91e-05 1.3466 0.3353 DRP2 rs146304533 23:101238981:G:A 23 101238981 G A X:100493970 0.968195 154 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Fracture of foot, except ankle 0.000134 2.0956 0.5486 TAF7L rs147493489 23:101292865:C:T 23 101292865 C T X:100547853 0.89098 0.000517164 84 106 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retained placenta and membranes, without haemorrhage 2.78e-05 7.9398 1.8948 GLA rs28935490 23:101398432:C:A 23 101398432 C A X:100653420 0.886349 180 missense_variant unknown Conflicting interpretations of pathogenicity, other VUS criteria provided, conflicting interpretations Criteria_multSubmitter Disorders of adult personality and behaviour 0.000807 1.4813 0.4421 NXF5 rs199849270 23:101841315:G:A 23 101841315 G A X:101096287 0.889631 349 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Other specified/unspecified hearing loss 0.00142 2.3714 0.7431 NXF5 rs191549480 23:101842786:G:A 23 101842786 G A X:101097758 0.989519 525 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Duodenum 0.000258 4.2486 1.1627 BHLHB9 rs4514179 23:102749947:T:C 23 102749947 T C X:102004875 0.981697 1728 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Sequelae of injuries, of poisoning and of other consequences of external causes 0.00102 -0.4171 0.1269 RAB40AL rs61745030 23:102937387:G:C 23 102937387 G C X:102192315 0.996494 0.00923819 1548 1846 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of wrist and hand 2.99e-05 1.82 0.436 RAB40AL rs61745026 23:102937400:A:G 23 102937400 A G X:102192328 0.996494 0.00923819 1548 1846 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified injuries of wrist and hand 2.99e-05 1.82 0.436 RAB40AL rs145606134 23:102937494:A:G 23 102937494 A G X:102192422 0.962055 0.00234357 358 503 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Disorders of porphyrin and bilirubin metabolism 4.24e-05 8.8256 2.1558 RAB40AL rs138133927 23:102937495:C:A 23 102937495 C A X:102192423 0.95757 0.00231363 366 484 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Disorders of porphyrin and bilirubin metabolism 4.45e-05 8.7812 2.1507 GLRA4 rs145491863 23:103707507:T:C 23 103707507 T C X:102962435 0.981322 4310 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Asthma and allergy 0.0013 0.351 0.1091 NRK rs192589373 23:105915745:C:T 23 105915745 C T X:105159737 0.965923 973 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Residual foreign body in soft tissue 0.000146 1.7012 0.4479 NRK rs188996722 23:105934337:A:G 23 105934337 A G X:105178329 0.810967 177 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other osteochondropathies 0.000371 3.2866 0.9233 SERPINA7 rs1804495 23:106034370:C:A 23 106034370 C A X:105278361 0.997962 0.0913176 16252 17297 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Benign neoplasm of thyroid gland 3.96e-06 0.5734 0.1243 MUM1L1 rs200704905 23:106206433:T:C 23 106206433 T C X:105450426 0.969856 3397 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Symptoms and signs involving the skin and subcutaneous tissue 0.0013 0.174 0.0541 RNF128 rs56121637 23:106773038:A:T 23 106773038 A T X:106016268 0.966528 0.00479058 782 978 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Memory loss 2.56e-05 1.2959 0.3079 MORC4 rs139105737 23:106942721:C:T 23 106942721 C T X:106185951 0.95206 2781 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Chronic rhinitsi, nasopharyngitis and pharyngitis 0.000447 0.2862 0.0815 VSIG1 rs200756900 23:108061477:A:G 23 108061477 A G X:107304707 0.894121 176 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Separation of retinal layers (serosa) 0.000145 6.1495 1.6186 COL4A6 rs145388022 23:108165418:C:A 23 108165418 C A X:107408648 0.976746 0.0395413 6462 8065 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Parkinson's disease, strict definition 7.43e-05 0.3132 0.079 COL4A6 rs34466065 23:108170621:T:C 23 108170621 T C X:107413851 0.981786 8889 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic sinusitis 0.000294 0.1377 0.038 COL4A6 rs143895379 23:108178828:C:T 23 108178828 C T X:107422058 0.976865 263 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Ulcerative rectosigmoiditis 0.000166 2.6709 0.7093 COL4A6 rs142508831 23:108187939:C:T 23 108187939 C T X:107431169 0.983892 0.00167398 282 333 missense_variant recessive Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neurological diseases 2.82e-05 0.3206 0.0766 COL4A6 rs34740537 23:108190439:C:T 23 108190439 C T X:107433669 0.91941 839 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rheumatism, unspecified 0.000302 0.9501 0.263 COL4A6 rs1042065 23:108190458:A:G 23 108190458 A G X:107433688 0.998516 26316 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of forearm 0.00233 0.1692 0.0556 COL4A6 rs139802816 23:108219699:G:A 23 108219699 G A X:107462929 0.953878 436 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ill-defined and unknown causes of mortality 0.000298 3.4006 0.9402 COL4A5 rs145970300 23:108575943:A:G 23 108575943 A G X:107819173 0.990106 2579 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intracerebral haemmorrhage 0.00104 0.5073 0.1546 COL4A5 rs142883891 23:108591181:C:A 23 108591181 C A X:107834411 0.951928 1812 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Abnormal findings on examination of urine, without diagnosis 0.000932 1.1122 0.336 COL4A5 rs34077552 23:108601436:G:T 23 108601436 G T X:107844666 0.985843 1123 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Oesophageal obstruction 0.00126 1.6117 0.4999 COL4A5 rs146873772 23:108655335:A:C 23 108655335 A C X:107898565 0.947263 219 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of liver 0.000115 1.2986 0.3368 COL4A5 rs201220208 23:108692786:C:A 23 108692786 C A X:107936016 0.962404 121 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Traumatic subarachnoid haemorrhage 0.000639 11.2633 3.2986 CHRDL1 rs189640632 23:110700676:C:T 23 110700676 C T X:109943904 0.877953 117 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Oesophageal obstruction 0.00077 6.6009 1.9625 PAK3 rs200474454 23:111220391:A:G 23 111220391 A G X:110463619 0.944836 304 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Oher diseases of blood and blood-forming organs 0.000544 3.1165 0.9012 ALG13 rs200516126 23:111726913:C:T 23 111726913 C T X:110970141 0.811228 0.000288523 54 52 missense_variant dominant Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Brachial plexus disorders 4.2e-05 10.7831 2.6324 ALG13 rs142841538 23:111736801:G:C 23 111736801 G C X:110980029 0.941412 1626 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Connective and other soft tissue of lower limb, including hip (other cancers excluded from controls) 0.000252 1.9285 0.5269 ALG13 rs781459134 23:111736838:T:C 23 111736838 T C X:110980066 0.860325 0.000688645 90 163 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter severe traumatic brain injury, does not include concussion 7.49e-06 3.3437 0.7465 ALG13 rs200066623 23:111736856:C:T 23 111736856 C T X:110980084 0.961569 0.0331394 5512 6663 missense_variant dominant Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Tobacco use 1.25e-06 1.1092 0.2288 AGTR2 rs121917813 23:116172437:A:T 23 116172437 A T X:115303690 0.828887 62 missense_variant unknown Uncertain significance VUS no assertion criteria provided no_Criteria Diseases of the myoneural junction and muscle 0.00217 4.2493 1.3861 DOCK11 rs139561772 23:118599191:C:T 23 118599191 C T X:117733154 0.833174 252 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Injuries to the knee and lower leg 0.0015 0.4012 0.1264 DOCK11 rs149752909 23:118605272:A:G 23 118605272 A G X:117739235 0.940607 0.00708515 986 1617 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Endometriosis of uterus 4.11e-05 0.8273 0.2017 DOCK11 rs61729104 23:118676003:A:G 23 118676003 A G X:117809966 0.984683 8416 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other maternal disorders predominantly related to pregnancy 0.000371 0.1463 0.0411 KIAA1210 rs145929840 23:119096546:C:T 23 119096546 C T X:118230509 0.986085 2462 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Nutritional anaemias 0.00139 0.2415 0.0755 UPF3B rs139646537 23:119837987:G:A 23 119837987 G A X:118971950 0.920939 828 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Mixed and other personality disorders 0.000756 0.9792 0.2907 RNF113A rs142871346 23:119870608:C:T 23 119870608 C T X:119004571 0.987333 0.0149515 2436 3057 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter KELA_REIMBURSEMENT_202 5.23e-05 0.2497 0.0617 NDUFA1 rs1801316 23:119872005:G:C 23 119872005 G C X:119005968 0.945109 1903 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Contraceptive management 0.00178 0.2309 0.0739 RHOXF1 rs2301977 23:120109232:C:T 23 120109232 C T X:119243190 0.992146 3707 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Congenital malformations of genital organs 0.000249 0.5812 0.1587 ZBTB33 rs143114425 23:120254068:A:T 23 120254068 A T X:119387923 0.974656 669 missense_variant unknown Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other specific joint derangements/joint disorders 0.000183 0.397 0.1061 LAMP2 rs144140265 23:120439216:C:T 23 120439216 C T X:119573071 0.966938 624 missense_variant dominant Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Toxic effect of carbon monoxide 0.000401 4.7509 1.3423 LAMP2 rs145169006 23:120447921:C:T 23 120447921 C T X:119581776 0.905854 131 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Chronic rhinitsi, nasopharyngitis and pharyngitis 0.000359 1.4985 0.4199 MCTS1 rs148197434 23:120606129:G:A 23 120606129 G A X:119739984 0.9779 4243 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Multiple gestation 0.000216 0.6252 0.169 C1GALT1C1 rs45557031 23:120626739:G:A 23 120626739 G A X:119760594 0.996699 15451 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute renal failure 0.000837 -0.1783 0.0534 C1GALT1C1 rs17261572 23:120626774:A:T 23 120626774 A T X:119760629 0.994434 0.232547 48390 37045 missense_variant unknown Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Myositis 7.73e-05 0.3564 0.0902 C1GALT1C1 rs149340486 23:120626865:C:T 23 120626865 C T X:119760720 0.970147 0.00112687 162 252 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Monoarthritis, not elsewhere classified 6.56e-05 5.0696 1.2701 GLUD2 rs9697983 23:121049176:T:G 23 121049176 T G X:120183030 0.993517 7853 missense_variant dominant Pathogenic (likely)Pathogenic no assertion criteria provided no_Criteria Achalasia of cardia 0.000659 0.8037 0.2359 GRIA3 rs146022384 23:123403079:A:C 23 123403079 A C X:122536930 0.97715 774 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Other inflammatory liver diseases 0.000692 1.4543 0.4287 XIAP rs5956583 23:123900661:A:C 23 123900661 A C X:123034511 0.998724 0.398396 96544 49822 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Fracture of shoulder and upper arm 6.71e-05 0.0733 0.0184 TENM1 rs144335593 23:124384356:T:A 23 124384356 T A X:123518206 0.99303 1236 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other shoulder lesions 0.000334 1.1129 0.3102 SMARCA1 rs139066770 23:129508084:G:A 23 129508084 G A X:128642061 0.967873 3367 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other gastritis (incl. Duodenitis) 0.000721 0.2911 0.0861 OCRL rs61752970 23:129540745:C:T 23 129540745 C T X:128674722 0.976889 3250 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Sequelae of injuries of lower limb 0.00201 0.4242 0.1373 OCRL rs61752971 23:129557953:A:G 23 129557953 A G X:128691930 0.943556 1080 LC recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Idiopathic gout 0.000262 1.3345 0.3656 BCORL1 rs35470604 23:130015930:A:G 23 130015930 A G X:129149906 0.986482 0.0111844 1760 2349 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hernia 3.2e-05 0.1763 0.0424 ELF4 rs141284451 23:130066903:G:A 23 130066903 G A X:129200878 0.942922 0.00321186 492 688 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Subjective visual disturbances 9.23e-05 0.987 0.2524 AIFM1 rs202219398 23:130133373:C:A 23 130133373 C A X:129267348 0.899015 148 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Tobacco use 0.000862 9.4999 2.8511 AIFM1 rs1139851 23:130149545:A:G 23 130149545 A G X:129283520 0.998663 51108 stop_lost recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Scoliosis 0.000335 -0.1586 0.0442 GPR119 rs41310452 23:130384742:G:C 23 130384742 G C X:129518716 0.928798 0.00154605 248 320 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hypertension, essential 6.51e-05 0.4385 0.1098 IGSF1 rs147496468 23:131275723:A:G 23 131275723 A G X:130409697 0.998059 0.0436623 7368 8673 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Leiomyoma of uterus (other cancers excluded from controls) 6.52e-07 0.1766 0.0355 IGSF1 rs146462069 23:131278706:T:G 23 131278706 T G X:130412680 0.993361 3230 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Use of disulfiram, acamprosate or naltrexone 0.00161 0.3983 0.1263 IGSF1 rs139140137 23:131282506:A:C 23 131282506 A C X:130416480 0.991783 0.0121207 1950 2503 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for other known or suspected fetal problems 6.1e-05 0.5215 0.1301 OR13H1 rs57328754 23:131544966:G:A 23 131544966 G A X:130678940 0.911074 78 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other diseases of biliary tract 0.00264 4.299 1.4299 STK26 rs56044451 23:132054721:C:T 23 132054721 C T X:131188749 0.96638 1764 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Synovial cyst of popliteal space [Baker] 0.000371 0.9294 0.2611 FRMD7 rs6637934 23:132078614:C:T 23 132078614 C T X:131212642 0.997548 0.0426143 7004 8652 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Muscle strain 4.03e-05 0.7982 0.1944 FRMD7 rs5977625 23:132082426:G:A 23 132082426 G A X:131216454 0.998996 0.0555489 9454 10954 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Leiomyoma of uterus 8.15e-07 0.1492 0.0302 HS6ST2 rs202179309 23:132958451:C:A 23 132958451 C A X:132092479 0.927001 193 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Peptic ulcer 0.000834 10.4285 3.1212 USP26 rs138385391 23:133026484:C:T 23 133026484 C T X:132160512 0.991452 1574 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pure hypercholesterolaemia 0.000421 0.3001 0.0851 GPC3 rs11539789 23:133692376:C:T 23 133692376 C T X:132826404 0.95143 136 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ischaemic Stroke, excluding all haemorrhages 0.000759 1.0184 0.3024 SLC9A6 rs201523857 23:135985527:G:T 23 135985527 G T X:135067686 0.928238 1532 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Cystic kidney disease 0.000956 1.266 0.3833 SLC9A6 rs146263125 23:136033469:G:A 23 136033469 G A X:135115628 0.975773 106 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anorexia (incl.atypical) 0.000174 6.4927 1.7293 FHL1 rs151315725 23:136210005:G:A 23 136210005 G A X:135292164 0.98834 1422 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Superficial injury of thorax 0.000418 0.67 0.1899 MAP7D3 rs191075892 23:136225925:C:T 23 136225925 C T X:135308084 0.977591 2536 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Hyperosmolality and hypernatraemia 0.000624 2.2717 0.664 MAP7D3 rs62640387 23:136244702:C:T 23 136244702 C T X:135326861 0.86234 283 missense_variant unknown Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Respiratory conditions due to other external agents 0.000995 8.6055 2.6142 CD40LG rs148594123 23:136659284:G:A 23 136659284 G A X:135741443 0.996452 4804 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other arrhytmias 0.000244 0.1588 0.0433 ARHGEF6 rs35106300 23:136745320:C:T 23 136745320 C T X:135827479 0.981606 1763 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Rheumatic fever incl heart disease 0.00218 1.0089 0.3292 GPR101 rs73637412 23:137030751:C:G 23 137030751 C G X:136112910 0.918932 1148 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Criteria_multSubmitter Type 1 diabetes with ketoacidosis 0.000541 0.9311 0.2692 ZIC3 rs147232392 23:137566740:G:T 23 137566740 G T X:136648899 0.973225 0.00443673 708 922 missense_variant recessive Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Chalazion 2.34e-06 1.3801 0.2923 F9 rs150190385 23:139530783:A:T 23 139530783 A T X:138612942 0.874401 121 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Anosmia 0.000585 8.0146 2.3309 F9 rs6048 23:139551121:A:G 23 139551121 A G X:138633280 0.991984 41522 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Foreign body in respiratory tract 0.000517 0.2002 0.0577 MCF2 rs41304534 23:139616374:C:T 23 139616374 C T X:138698533 0.962231 466 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cystitis 0.000127 0.7429 0.1939 MCF2 rs61752695 23:139617575:C:T 23 139617575 C T X:138699734 0.922327 0.00270014 406 586 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Abnormal findings on examination of blood, without diagnosis 6.88e-05 0.6715 0.1687 SOX3 rs200361128 23:140504904:C:G 23 140504904 C G X:139587069 0.98283 2907 missense_variant unknown Conflicting interpretations of pathogenicity Conflicting criteria provided, conflicting interpretations Path_Criteria_oneSubmitter_confl Carcinoma in situ of skin of scalp and neck (other cancers excluded from controls) 0.000137 2.3012 0.6035 SOX3 rs112180170 23:140505047:C:T 23 140505047 C T X:139587212 0.944134 2988 missense_variant unknown Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Mixed specific developmental disorders 0.000896 1.4041 0.4228 CDR1 rs138645302 23:140783697:G:A 23 140783697 G A X:139865862 0.953079 2881 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Persons encountering health services in other circumstances 0.000412 -0.1502 0.0425 MAGEC2 rs35094955 23:142203164:G:C 23 142203164 G C X:141290950 0.992529 9207 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Maternal care for other conditions predominantly related to pregnancy 0.000871 0.2313 0.0695 FMR1 rs143889976 23:147944969:C:T 23 147944969 C T X:147026489 0.965753 189 missense_variant dominant Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Anomalies of pupillary function 0.00075 9.7135 2.8819 AFF2 rs151043891 23:148958424:C:G 23 148958424 C G X:148039954 0.925193 209 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Viral pneumonia (known virus, not influenza) 0.000777 3.966 1.18 IDS rs146458524 23:149496471:C:T 23 149496471 C T X:148578002 0.991271 2954 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Tic disorders (more controls excluded) 0.000326 1.9452 0.5413 MAMLD1 rs146555522 23:150470178:C:T 23 150470178 C T X:149638450 0.946374 645 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Intermittent heterotropia 0.00097 1.6967 0.5143 CNGA2 rs144366408 23:151739696:G:T 23 151739696 G T X:150908168 0.958845 272 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other follicular disorders 0.000798 2.7193 0.8109 CNGA2 rs150539917 23:151743699:G:A 23 151743699 G A X:150912171 0.988686 250 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Adult-onset Still disease 0.000129 1.8425 0.4813 MAGEA3 rs782339504 23:152701759:G:T 23 152701759 G T X:151870237 0.952216 433 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Alzheimer's disease (Early onset) (more controls excluded) 0.000598 2.8051 0.8172 MAGEA6 rs145154087 23:152767230:C:T 23 152767230 C T X:151935746 0.980508 234 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cystitis 0.00052 0.9228 0.2659 NSDHL rs35529894 23:152846349:A:G 23 152846349 A G X:152014893 0.999113 4202 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other overlap syndromes 0.000317 1.4283 0.3966 NSDHL rs200930841 23:152858858:G:A 23 152858858 G A X:152027402 0.862479 0.000307577 52 61 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Manic episode 3e-05 17.4304 4.1764 NSDHL rs151248633 23:152869102:C:T 23 152869102 C T X:152037646 0.870304 0.000345684 70 57 missense_variant both Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Other degenerative diseases of the nervous system 4.04e-06 2.9885 0.6484 FAM58A rs141657773 23:153588388:T:C 23 153588388 T C X:152853846 0.897014 190 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Pulmonary eosinophilia, not elsewhere classified 0.000273 13.3548 3.669 SLC6A8 rs138064933 23:153693076:C:T 23 153693076 C T X:152958531 0.867791 0.000998944 146 221 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Lesion of sciatic nerve 4.14e-05 5.6552 1.3795 SLC6A8 rs374163604 23:153693925:G:A 23 153693925 G A X:152959380 0.839405 144 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Persistent delusional disorders 0.00137 2.1771 0.68 SLC6A8 rs201526436 23:153694553:G:A 23 153694553 G A X:152960008 0.980733 217 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Carcinoma in situ of cervix uteri 0.000566 7.3279 2.1255 SLC6A8 rs201637740 23:153695185:A:C 23 153695185 A C X:152960640 0.890458 164 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Neuromuscular dysfuntion of bladder 0.000399 3.2785 0.9259 ABCD1 rs183021839 23:153725304:A:C 23 153725304 A C X:152990759 0.94527 0.0118512 1914 2440 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other diseases caused by chlamydiae 7.69e-05 2.6033 0.6584 ABCD1 rs781932570 23:153725957:C:T 23 153725957 C T X:152991412 0.949361 530 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retained placenta and membranes, without haemorrhage 0.000236 2.0846 0.567 ABCD1 rs150151955 23:153726023:C:G 23 153726023 C G X:152991478 0.9468 255 missense_variant recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Otitis media, unspecified 0.00029 2.4583 0.6784 ABCD1 rs782755297 23:153736172:G:A 23 153736172 G A X:153001626 0.822673 78 missense_variant recessive Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other/unspecified disorders of vestibular function 0.000425 11.8783 3.3709 ABCD1 rs781856973 23:153742998:A:G 23 153742998 A G X:153008452 0.917763 137 missense_variant recessive Uncertain significance VUS criteria provided, single submitter Criteria_oneSubmitter Autism spe (more controls excluded) 0.000394 14.0748 3.9714 PLXNB3 rs148960424 23:153765536:A:G 23 153765536 A G X:153030991 0.948935 260 start_lost unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other disorders of ear 0.000543 0.453 0.131 PLXNB3 rs147973343 23:153770623:C:T 23 153770623 C T X:153036078 0.993508 4946 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebral cysts 0.000173 0.6753 0.1798 PLXNB3 rs139853034 23:153770640:G:A 23 153770640 G A X:153036095 0.941832 1045 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Diseases of the musculoskeletal system and connective tissue 0.00045 -0.1587 0.0452 PLXNB3 rs150648419 23:153775253:G:A 23 153775253 G A X:153040708 0.997253 5061 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Cerebral cysts 0.000236 0.6508 0.177 L1CAM rs185418119 23:153865465:G:C 23 153865465 G C X:153130920 0.978742 0.002496 388 529 missense_variant recessive Likely benign (likely)Benign no assertion criteria provided no_Criteria Endometriosis of ovary 4.9e-05 1.2999 0.3202 AVPR2 rs2071126 23:153905541:G:A 23 153905541 G A X:153170995 0.978358 3859 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aneurysms, operations, SAH 0.00071 -0.3832 0.1132 AVPR2 rs61733408 23:153905709:G:A 23 153905709 G A X:153171163 0.91722 365 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Stomach (other cancers excluded from controls) 0.000207 2.0761 0.5595 AVPR2 rs782083467 23:153906244:GCGCCGCAGGGGA:G 23 153906244 GCGCCGCAGGGGA G X:153171698 0.946762 0.00161138 256 336 inframe_indel recessive Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Otalgia 4.99e-06 4.3081 0.9436 AVPR2 rs5201 23:153906539:A:G 23 153906539 A G X:153171993 0.982789 0.307988 69028 44123 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Skin of lip 2.94e-05 0.4434 0.1061 AVPR2 rs5202 23:153906605:C:T 23 153906605 C T X:153172059 0.984427 4050 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Aneurysms, operations, SAH 0.000405 -0.3893 0.1101 AVPR2 rs149557877 23:153906629:G:A 23 153906629 G A X:153172083 0.967033 0.00152155 248 311 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Viral pneumonia (known virus, not influenza) 2.68e-05 4.2171 1.0043 HCFC1 rs199511876 23:153951449:C:T 23 153951449 C T X:153216900 0.970398 70 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Undescended testicle 0.00407 19.521 6.7963 HCFC1 rs1051152 23:153954909:A:G 23 153954909 A G X:153220360 0.997823 30012 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Coeliac disease 0.000454 0.1542 0.044 HCFC1 rs200997332 23:153955425:C:T 23 153955425 C T X:153220876 0.97376 1397 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Other and unspecified skin changes due to chronic exposure to nonionizing radiation 0.000862 2.7086 0.8129 HCFC1 rs3027884 23:153955527:T:C 23 153955527 T C X:153220978 0.9564 0.00118403 168 267 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spondylopathies (FG) 1.35e-05 2.319 0.5328 TMEM187 rs139864308 23:153982159:G:C 23 153982159 G C X:153247610 0.929758 388 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Stomach (other cancers excluded from controls) 0.000287 1.9462 0.5366 IRAK1 rs35638718 23:154013099:G:A 23 154013099 G A X:153278550 0.912792 996 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Benign neoplasm: Colon 0.000596 0.4165 0.1213 IRAK1 rs201911518 23:154019272:T:G 23 154019272 T G X:153284723 0.870914 0.000770303 124 159 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Suggestive for eosinophilic asthma 1.44e-05 4.6739 1.0775 MECP2 rs61749713 23:154031241:G:C 23 154031241 G C X:153296692 0.992327 0.00119492 160 279 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Spondylopathies (FG) 5.27e-06 2.3323 0.5122 MECP2 rs61749711 23:154031246:G:A 23 154031246 G A X:153296697 0.839731 179 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Myasthenia gravis 0.000373 9.7714 2.746 FLNA rs200198847 23:154350097:G:A 23 154350097 G A X:153578465 0.911626 119 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Neuralgia and neuritis, unspecified 0.000493 7.0752 2.0304 FLNA rs187029309 23:154353346:G:A 23 154353346 G A X:153581714 0.942095 568 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Ankylosing hyperostosis [Forestier] 0.00038 6.0741 1.7093 FLNA rs200130356 23:154359007:T:C 23 154359007 T C X:153587375 0.987713 241 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Bicipital tendinitis 0.00172 3.0711 0.9797 FLNA rs201908251 23:154360374:C:T 23 154360374 C T X:153588742 0.921887 523 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Systemic lupus erythematosus, unspecified 0.000178 3.8095 1.0163 FLNA rs202109957 23:154362755:G:T 23 154362755 G T X:153591123 0.930441 765 missense_variant both Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Benign neoplasm: Spinal cord 0.00118 3.6182 1.1156 FLNA rs202029322 23:154365248:G:A 23 154365248 G A X:153593616 0.895726 128 missense_variant both Conflicting interpretations of pathogenicity VUS criteria provided, conflicting interpretations Criteria_multSubmitter Complications of internal orthopaedic prosthetic devices, implants and grafts 0.000218 2.6037 0.7042 FLNA rs36051194 23:154366167:G:A 23 154366167 G A X:153594535 0.970865 10509 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Hypothyroidism,other/unspecified 0.000893 -0.0809 0.0243 FLNA rs782598729 23:154371181:T:TCGA 23 154371181 T TCGA X:153599549 0.92168 1667 inframe_indel both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter conjunctival degenerations and deposits 0.000544 1.7593 0.5088 PLXNA3 rs147019078 23:154460355:C:T 23 154460355 C T X:153688695 0.846969 619 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Major coronary heart disease event 0.000823 0.3438 0.1028 PLXNA3 rs36115591 23:154462230:G:A 23 154462230 G A X:153690570 0.836134 687 missense_variant unknown Likely benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Major coronary heart disease event 0.00084 0.3355 0.1005 PLXNA3 rs35700706 23:154462248:G:A 23 154462248 G A X:153690588 0.918614 0.00398489 666 798 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Acute pharyngitis 3.58e-06 1.2344 0.2663 PLXNA3 rs141197316 23:154462291:G:A 23 154462291 G A X:153690631 0.976418 3689 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Retinal vein occlusion (central or branch) 0.000243 1.0694 0.2915 PLXNA3 rs146936092 23:154463653:G:A 23 154463653 G A X:153691996 0.979651 0.0075506 1258 1516 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Juvenile osteochondrosis 9.41e-05 1.6212 0.4151 PLXNA3 rs150546014 23:154464031:G:A 23 154464031 G A X:153692374 0.898819 0.0122867 2002 2512 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Habit and impulse disorders 3.09e-05 2.0358 0.4886 PLXNA3 rs139336954 23:154464783:C:T 23 154464783 C T X:153693126 0.970946 889 missense_variant unknown Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Amyloidosis 0.00102 3.1814 0.968 LAGE3 rs11538409 23:154478737:G:A 23 154478737 G A X:153707076 0.897677 259 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Postprocedural musculoskeletal disorders, not elsewhere classified 0.00303 2.4782 0.8359 G6PD rs137852318 23:154533596:C:G 23 154533596 C G X:153761811 0.841759 84 missense_variant dominant Pathogenic (likely)Pathogenic criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Inflammatory disorders of breast 0.000346 8.3849 2.3435 G6PD rs181277621 23:154535342:C:T 23 154535342 C T X:153763557 0.954135 0.00882446 1458 1784 missense_variant dominant Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Soft tissue disorders 1.05e-05 -0.1729 0.0392 IKBKG rs148695964 23:154552171:G:A 23 154552171 G A X:153780386 0.91758 89 missense_variant both Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Gestational [pregnancy-induced] hypertension 0.000811 3.7273 1.113 DKC1 rs146700772 23:154769233:A:C 23 154769233 A C X:153997508 0.977659 174 missense_variant recessive Benign (likely)Benign criteria provided, single submitter Criteria_oneSubmitter Other and unspecified polyneuropathies, also in other diseases 0.000233 1.8974 0.5156 F8 rs1800291 23:154930010:G:C 23 154930010 G C X:154158285 0.983335 28753 missense_variant recessive Benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Medical abortion 0.000118 0.0892 0.0232 CLIC2 rs41304992 23:155279253:G:C 23 155279253 G C X:154508542 0.8602 2404 missense_variant recessive Benign/Likely benign (likely)Benign criteria provided, multiple submitters, no conflicts Criteria_multSubmitter Disorders of breast 0.000115 0.326 0.0845