phenotype gene variant chr pos rsid variant_category AF AC_Hom AC_Het enrichment_nfsee INFO ClinVar: Category ClinVar: Review Category Mode of inheritance (OMIM) rec_p rec_beta rec_beta_se add_pval add_beta add_beta_se cs pip R4_case_hom R6_case_hom R6_rec_p R6_rec_beta het_pval Disorders of porphyrin and bilirubin metabolism UGT1A3 2:233729266:T:C 2 233729266 rs6431625 missense_variant 0.420509 65620 88870 1.1 0.999 unknown 1.18e-26 1.667 0.156 8.81e-25 1.508 0.1467 -1 0.00043 Disorders of porphyrin and bilirubin metabolism UGT1A6 2:233693556:A:C 2 233693556 rs1105879 missense_variant 0.451147 75358 90388 1.4 1 (likely)Benign Criteria_oneSubmitter unknown 2.54e-23 1.422 0.143 1.22e-21 1.3686 0.1432 -1 3.3e-07 Disorders of porphyrin and bilirubin metabolism UGT1A6 2:233693023:T:G 2 233693023 rs6759892 missense_variant 0.482354 86036 91175 1.2 1 (likely)Benign Criteria_oneSubmitter unknown 3.82e-20 1.212 0.132 2.21e-19 1.2661 0.1406 -1 2e-09 Cholelithiasis UGT1A6 2:233693556:A:C 2 233693556 rs1105879 missense_variant 0.451147 75358 90388 1.4 1 (likely)Benign Criteria_oneSubmitter unknown 4.07e-11 0.077 0.012 3.4e-08 0.0739 0.0134 1 0.0064 Cholelithiasis UGT1A3 2:233729266:T:C 2 233729266 rs6431625 missense_variant 0.420509 65620 88870 1.1 0.999 unknown 1.73e-08 0.069 0.012 8.05e-06 0.0601 0.0135 -1 0.00018 Cholelithiasis UGT1A6 2:233693023:T:G 2 233693023 rs6759892 missense_variant 0.482354 86036 91175 1.2 1 (likely)Benign Criteria_oneSubmitter unknown 1.22e-07 0.059 0.011 6.27e-05 0.0533 0.0133 -1 2.8e-05 Disorders of gallbladder, biliary tract and pancreas UGT1A6 2:233693556:A:C 2 233693556 rs1105879 missense_variant 0.451147 75358 90388 1.4 1 (likely)Benign Criteria_oneSubmitter unknown 8.15e-10 0.065 0.011 4.82e-08 0.0658 0.0121 -1 0.0028 Disorders of gallbladder, biliary tract and pancreas UGT1A3 2:233729266:T:C 2 233729266 rs6431625 missense_variant 0.420509 65620 88870 1.1 0.999 unknown 4.27e-09 0.065 0.011 1.68e-06 0.0581 0.0121 -1 8.7e-05 Disorders of gallbladder, biliary tract and pancreas UGT1A6 2:233693023:T:G 2 233693023 rs6759892 missense_variant 0.482354 86036 91175 1.2 1 (likely)Benign Criteria_oneSubmitter unknown 5.23e-07 0.05 0.01 2.72e-05 0.0503 0.012 -1 1.1e-05 Cholelithiasis, broad definition with cholecystitis UGT1A6 2:233693556:A:C 2 233693556 rs1105879 missense_variant 0.451147 75358 90388 1.4 1 (likely)Benign Criteria_oneSubmitter unknown 1.53e-11 0.077 0.011 4.84e-09 0.0768 0.0131 1 0.02 3516.9 5440 7.006e-23 0.1887 0.3093 Cholelithiasis, broad definition with cholecystitis UGT1A3 2:233729266:T:C 2 233729266 rs6431625 missense_variant 0.420509 65620 88870 1.1 0.999 unknown 2.49e-09 0.072 0.012 4e-06 0.0608 0.0132 -1 2e-04 Cholelithiasis, broad definition with cholecystitis UGT1A6 2:233693023:T:G 2 233693023 rs6759892 missense_variant 0.482354 86036 91175 1.2 1 (likely)Benign Criteria_oneSubmitter unknown 3.88e-08 0.06 0.011 1.38e-05 0.0567 0.013 -1 6.2e-05 Hereditary retinal dystrophy CERKL 2:181603943:G:C 2 181603943 rs200711686 missense_variant 0.00563165 20 2049 830 0.995 unknown 1.32e-16 210.807 25.485 1.24e-12 8.4423 1.189 1 0.086 6 12 1.319e-32 470.7142 0.003481 Diabetes mellitus in pregnancy ACOXL 2:110794148:G:A 2 110794148 rs150003283 missense_variant 1363 0.995 unknown 6.49e-10 6.805 1.101 1e-04 2 0 0.9206 Gestational diabetes (for exclusion) ACOXL 2:110794148:G:A 2 110794148 rs150003283 missense_variant 1363 0.995 unknown 2.3e-09 8.066 1.35 1e-04 Maternal care for known or suspected malpresentation of fetus ACOXL 2:110794148:G:A 2 110794148 rs150003283 missense_variant 1363 0.995 unknown 4.9e-07 9.703 1.929 1e-04 Oedema, proteinuria and hypertensive disorders in pregnancy, childbirth and the puerperium ACOXL 2:110794148:G:A 2 110794148 rs150003283 missense_variant 1363 0.995 unknown 5.97e-07 5.524 1.107 1e-04 Other maternal disorders predominantly related to pregnancy ACOXL 2:110794148:G:A 2 110794148 rs150003283 missense_variant 1363 0.995 unknown 5.51e-05 3.837 0.951 1e-04 Follow-up examination after treatment for conditions other than malignant neoplasms TTN 2:178781235:C:G 2 178781235 rs72647870 missense_variant 0.00443673 12 1618 1.2 0.995 VUS Criteria_multSubmitter both 9.67e-08 5.38 1.009 1e-04 Other retinal disorders CERKL 2:181603943:G:C 2 181603943 rs200711686 missense_variant 0.00563165 20 2049 830 0.995 unknown 1.84e-09 7.516 1.25 1e-04 Disorders of choroid and retina CERKL 2:181603943:G:C 2 181603943 rs200711686 missense_variant 0.00563165 20 2049 830 0.995 unknown 1.85e-08 5.723 1.017 1e-04 Statin medication UGT1A6 2:233693556:A:C 2 233693556 rs1105879 missense_variant 0.451147 75358 90388 1.4 1 (likely)Benign Criteria_oneSubmitter unknown 1.21e-05 -0.037 0.009 3.92e-06 -0.0451 0.0098 10771 Chlocystitis UGT1A3 2:233729266:T:C 2 233729266 rs6431625 missense_variant 0.420509 65620 88870 1.1 0.999 unknown 5.26e-05 0.136 0.034 1e-04 Other and unspecified nerve root and plexus disorders, also in other diseases UGT1A3 2:233729266:T:C 2 233729266 rs6431625 missense_variant 0.420509 65620 88870 1.1 0.999 unknown 9.01e-05 0.124 0.032 1e-04 Pain (limb, back, neck, head abdominally) TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 3.79e-11 -0.061 0.009 5.45e-08 -0.0426 0.0078 4974.3 8035.8 6.054e-09 -0.0979 0.2171 Other soft tissue disorders, not elsewhere classified TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 3.76e-07 -0.088 0.017 1e-04 Pain in joint TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 1.25e-06 -0.097 0.02 1e-04 Dorsalgia TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 1.62e-06 -0.069 0.014 3.78e-05 -0.0505 0.0122 Dorsopathies TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 5.68e-06 -0.052 0.011 1e-04 Lower back pain or/and sciatica TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 7.53e-06 -0.072 0.016 1e-04 Low back pain TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 8.28e-06 -0.09 0.02 1e-04 Diseases of the musculoskeletal system and connective tissue TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 1.65e-05 -0.043 0.01 1e-04 Soft tissue disorders TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 2e-05 -0.049 0.011 1e-04 Other joint disorders TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 2.06e-05 -0.053 0.012 9.11e-05 -0.0413 0.0106 Other specific joint derangements/joint disorders TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 2.2e-05 -0.078 0.018 1e-04 Other dorsopathies, not elsewhere classified TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 3.18e-05 -0.052 0.013 1e-04 Arthropathies TMEM214 2:27037601:G:A 2 27037601 rs1124649 missense_variant 0.280815 29122 74046 0.88 0.997 unknown 3.42e-05 -0.044 0.011 1e-04 Hereditary retinal dystrophy CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 0 390.999 0 1.84e-08 7.3087 1.2989 1 0.62 5 6 2.403e-18 701.0549 0.5705 Other specified/unspecified hearing loss CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 0 74.894 0 1e-04 Care involving use of rehabilitation procedures CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 0 7.23 0 1e-04 Fitting and adjustment of other devices CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 0 39.127 0 1e-04 Presence of other devices CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 0 65.343 0 1e-04 Sensorineural hearing loss CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 2.53e-08 13.073 2.347 1e-04 5 6 2.438e-09 15.2228 Other retinal disorders CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 2.75e-08 14.784 2.661 1e-04 Other cataract CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 2.84e-08 14.568 2.625 1e-04 4 Conductive and sensorineural hearing loss CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 6.33e-08 11.462 2.119 1e-04 5 6 6.137e-09 13.8984 Persons with potential health hazards related to family and personal history and certain conditions influencing health status CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 8.16e-08 8.351 1.557 1e-04 Disorders of lens CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 1.68e-07 7.075 1.352 1e-04 Disorders of choroid and retina CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 2.12e-07 10.485 2.021 1e-04 Other disorders of ear CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 4.04e-07 8.283 1.635 1e-04 Persons encountering health services for specific procedures and health care CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 9.9e-07 5.257 1.074 1e-04 Presence of other functional implants CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 1.35e-06 24.505 5.071 1e-04 Moderate visual impairment, binocular CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 2.75e-06 125.134 26.689 1e-04 Medication related adverse effects (Asthma/COPD) CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 5.14e-06 4.877 1.07 1e-04 Conductive hearing loss, unspecified CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 8.63e-06 174.861 39.304 1e-04 Diseases of the ear and mastoid process CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 1.02e-05 3.124 0.708 1e-04 Visual impairment including blindness (binocular or monocular) CLRN1 3:150928107:A:C 3 150928107 rs121908140 LC 0.00444761 12 1622 150 0.995 (likely)Pathogenic Criteria_multSubmitter recessive 3.14e-05 45.745 10.988 1e-04 Care involving use of rehabilitation procedures LRBA 4:150265730:G:A 4 150265730 rs145709687 missense_variant 0.000871014 4 316 0.31 0.962 VUS Criteria_multSubmitter recessive 0 7.822 0 1e-04 Persons encountering health services in other circumstances LRBA 4:150265730:G:A 4 150265730 rs145709687 missense_variant 0.000871014 4 316 0.31 0.962 VUS Criteria_multSubmitter recessive 0 4.841 0 1e-04 Dysphagia LRBA 4:150265730:G:A 4 150265730 rs145709687 missense_variant 0.000871014 4 316 0.31 0.962 VUS Criteria_multSubmitter recessive 1.17e-06 12.02 2.473 1e-04 Hereditary retinal dystrophy EYS 6:63721375:TTCTGCATG:T 6 63721375 rs528919874 pLoF 0.00692456 24 2520 63 0.988 (likely)Pathogenic Criteria_multSubmitter recessive 3.79e-19 224.21 25.071 2.24e-11 6.8872 1.0296 1 0.22 7 10 1.073e-26 471.0101 0.1862 Hereditary retinal dystrophy DST 6:56463608:G:A 6 56463608 rs201429821 missense_variant 0.0119601 58 4336 7.2 0.996 VUS Criteria_multSubmitter recessive 1.54e-11 88.402 13.109 1.53e-05 2.807 0.6491 Other retinal disorders EYS 6:63721375:TTCTGCATG:T 6 63721375 rs528919874 pLoF 0.00692456 24 2520 63 0.988 (likely)Pathogenic Criteria_multSubmitter recessive 2.11e-09 9.279 1.549 1e-04 Disorders of choroid and retina EYS 6:63721375:TTCTGCATG:T 6 63721375 rs528919874 pLoF 0.00692456 24 2520 63 0.988 (likely)Pathogenic Criteria_multSubmitter recessive 4.29e-08 6.057 1.106 1e-04 Hereditary retinal dystrophy EYS 6:65402507:A:T 6 65402507 rs143994166 pLoF 0.00574597 12 2099 280 0.973 (likely)Pathogenic Criteria_oneSubmitter recessive 1.08e-08 153.741 26.89 1.86e-06 4.9012 1.0279 Diseases of the myoneural junction and muscle CLCN1 7:143351678:C:T 7 143351678 rs55960271 pLoF 0.0165928 106 5990 7.2 0.996 (likely)Pathogenic Criteria_multSubmitter both 3.67e-14 13.073 1.726 1.89e-05 0.7107 0.1661 11 14 1.054e-15 19.9532 0.1971 Excessive, freguent and irrelgular menstruation ABCA13 7:48281413:G:A 7 48281413 rs79809732 missense_variant 2539 0.934 unknown 6.95e-08 2.404 0.446 1e-04 Female infertility PKHD1L1 8:109459837:G:C 8 109459837 rs17368310 pLoF 0.0685678 1794 23397 1.6 0.995 unknown 9.37e-12 0.825 0.121 8.78e-07 0.2067 0.042 62 97.1 3.811e-17 1.6407 0.02779 Female infertility, cervigal, vaginal, other or unspecified origin PKHD1L1 8:109459837:G:C 8 109459837 rs17368310 pLoF 0.0685678 1794 23397 1.6 0.995 unknown 2.81e-11 0.873 0.131 4.13e-06 0.2035 0.0442 ILD Co-morbidites, CVD and metabolic diseases TTF1 9:132401954:C:A 9 132401954 rs8999 missense_variant 33665 0.999 unknown 3.36e-08 0.175 0.032 1e-04 742 0 0.6445 ILD-related co-morbidities TTF1 9:132401954:C:A 9 132401954 rs8999 missense_variant 33665 0.999 unknown 4.46e-07 0.129 0.026 1e-04 Type 1 diabetes TTF1 9:132401954:C:A 9 132401954 rs8999 missense_variant 33665 0.999 unknown 1.65e-05 0.337 0.078 1e-04 Type 1 diabetes, strict definition TTF1 9:132401954:C:A 9 132401954 rs8999 missense_variant 33665 0.999 unknown 3.98e-05 0.493 0.12 1e-04 Type 1 diabetes, strict (exclude DM2) TTF1 9:132401954:C:A 9 132401954 rs8999 missense_variant 33665 0.999 unknown 4.28e-05 0.461 0.113 1e-04 Type 1 diabetes, strict definition, subgroup 1 TTF1 9:132401954:C:A 9 132401954 rs8999 missense_variant 33665 0.999 unknown 4.33e-05 0.522 0.128 1e-04 Type1 diabetes, definitions combined TTF1 9:132401954:C:A 9 132401954 rs8999 missense_variant 33665 0.999 unknown 6.69e-05 0.443 0.111 1e-04 Type 1 diabetes without complications TTF1 9:132401954:C:A 9 132401954 rs8999 missense_variant 33665 0.999 unknown 6.7e-05 0.337 0.085 1e-04 Other disorders of ear C10orf90 10:126459169:G:A 10 126459169 rs139123090 missense_variant 0.00847333 26 3087 2.8 0.963 (likely)Benign Criteria_oneSubmitter unknown 4.82e-11 4.744 0.721 5.87e-05 0.2601 0.0647 -1 0.0011 Sensorineural hearing loss C10orf90 10:126459169:G:A 10 126459169 rs139123090 missense_variant 0.00847333 26 3087 2.8 0.963 (likely)Benign Criteria_oneSubmitter unknown 3.58e-11 5.842 0.882 1e-04 -1 7e-07 9.5 13.5 7.958e-13 8.1742 Conductive and sensorineural hearing loss C10orf90 10:126459169:G:A 10 126459169 rs139123090 missense_variant 0.00847333 26 3087 2.8 0.963 (likely)Benign Criteria_oneSubmitter unknown 2.25e-12 5.958 0.849 1e-04 -1 9.9e-06 10.5 14.5 8.833e-14 8.2645 0.06242 Other cataract CASP7 10:113725526:T:C 10 113725526 rs141266925 missense_variant 0.0150468 90 5438 6.5 0.996 unknown 2.47e-16 4.768 0.582 3.04e-07 0.4321 0.0844 16.8 27 3.946e-26 10.5547 0.003492 Senile cataract CASP7 10:113725526:T:C 10 113725526 rs141266925 missense_variant 0.0150468 90 5438 6.5 0.996 unknown 2.32e-12 2.078 0.296 4.98e-06 0.2494 0.0546 Disorders of lens CASP7 10:113725526:T:C 10 113725526 rs141266925 missense_variant 0.0150468 90 5438 6.5 0.996 unknown 6.38e-16 2.239 0.277 2.68e-07 0.2625 0.051 Medication related adverse effects (Asthma/COPD) CASP7 10:113725526:T:C 10 113725526 rs141266925 missense_variant 0.0150468 90 5438 6.5 0.996 unknown 9.84e-11 1.539 0.238 5.51e-05 0.178 0.0441 Diseases of the eye and adnexa CASP7 10:113725526:T:C 10 113725526 rs141266925 missense_variant 0.0150468 90 5438 6.5 0.996 unknown 6.69e-05 0.671 0.168 1e-04 Diabetic nephropathy DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 2.76e-07 19.312 3.758 1e-04 Lung transplantation DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 1.87e-08 36.648 6.517 1e-04 4 0.1441 Transplanted organ and tissue status DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 2.15e-08 35.738 6.382 1e-04 4 1.248e-07 50.89 Diabetic nephropathy (more controls excluded) DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 4.37e-07 16.828 3.331 1e-04 Renal failure DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 2.13e-06 12.819 2.704 1e-04 COPD-related respiratory insufficiency DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 7.97e-06 9.371 2.098 1e-04 Chronic kidney disease DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 2.33e-05 13.965 3.301 1e-04 Renal tubulo-intestitial diseases DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 4.52e-05 3.313 0.812 1e-04 Congenital malformations of the urinary system DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 8.06e-05 30.83 7.82 1e-04 Glomerulonephritis DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 8.81e-05 9.654 2.462 1e-04 Acute tubulo-interstitial nephritis DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 9.14e-05 4.002 1.023 1e-04 All influenza DMBT1 10:122618145:G:A 10 122618145 rs189221852 missense_variant 2662 0.959 unknown 9.33e-05 9.327 2.387 1e-04 Diseases of the ear and mastoid process C10orf90 10:126459169:G:A 10 126459169 rs139123090 missense_variant 0.00847333 26 3087 2.8 0.963 (likely)Benign Criteria_oneSubmitter unknown 1.11e-08 2.56 0.448 1e-04 Mixed conductive and sensorineural hearing loss C10orf90 10:126459169:G:A 10 126459169 rs139123090 missense_variant 0.00847333 26 3087 2.8 0.963 (likely)Benign Criteria_oneSubmitter unknown 7.28e-05 30.142 7.598 1e-04 Redundant prepuce, phimosis and paraphimosis FUT11 10:73773302:A:G 10 73773302 rs200368257 missense_variant 0.00571875 12 2089 550 0.98 unknown 3.22e-08 18.338 3.316 1e-04 2 3 0.838 Type 1 diabetes with coma INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.09e-20 0.325 0.035 1.42e-18 0.5311 0.0604 1 0.23 Type 1 diabetes, wide definition, subgroup 1 INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 5.71e-46 0.277 0.019 2.76e-42 0.4586 0.0337 1 0.39 2982.9 4727.9 9.95e-80 0.6088 0.07239 Type 1 diabetes, wide definition INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.72e-36 0.205 0.016 2.42e-33 0.3356 0.0279 1 0.27 Type 1 diabetes, strict definition, subgroup 1 INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.08e-29 0.333 0.029 7.96e-29 0.5712 0.0513 1 0.47 Type 1 diabetes, strict definition INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.99e-31 0.322 0.028 5.29e-31 0.5583 0.0482 1 0.45 Type1 diabetes, definitions combined INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 6.47e-35 0.309 0.025 1.52e-34 0.5361 0.0437 1 0.42 Proliferative diabetic retinopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 3.64e-10 0.211 0.034 8.4e-09 0.3314 0.0575 1 0.25 Other diabetic retinopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 6.25e-09 0.225 0.039 3.72e-08 0.3661 0.0665 1 0.4 Unspecified diabetes INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.92e-13 0.154 0.021 1.19e-11 0.241 0.0355 1 0.37 Type 1 diabetes, strict (exclude DM2) INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.49e-36 0.32 0.025 6.25e-36 0.5529 0.0442 1 0.43 Type 1 diabetes with ophthalmic complications INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 4.81e-38 0.32 0.025 1.73e-34 0.5251 0.0429 1 0.4 Type 1 diabetes without complications INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.58e-45 0.272 0.019 2.08e-44 0.4652 0.0333 1 0.39 Type 1 diabetes with other specified/multiple/unspecified complications INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 3.63e-37 0.287 0.023 1.73e-33 0.4691 0.0389 1 0.47 Type 1 diabetes with ketoacidosis INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 3.64e-24 0.354 0.035 2.43e-22 0.5916 0.0609 1 0.41 Type 1 diabetes INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.25e-41 0.236 0.017 2.53e-38 0.3889 0.03 1 0.42 Proliferative diabetic retinopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 5.47e-13 0.099 0.014 1.19e-10 0.1492 0.0232 1 0.36 Unspecified diabetic retinopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 7.8e-12 0.201 0.029 1.13e-09 0.3051 0.0501 1 0.46 Diabetic ketoacidosis INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 6.51e-30 0.219 0.019 1.25e-28 0.369 0.0332 1 0.44 Diabetic background retinopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 2.49e-15 0.217 0.027 2.42e-12 0.3284 0.0469 1 0.5 Diabetic retinopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 2.83e-21 0.2 0.021 5.55e-19 0.3219 0.0362 1 0.51 2118.9 Other retinal disorders INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.29e-11 0.081 0.012 4.43e-10 0.125 0.02 1 0.48 Diabetic maculopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.13e-12 0.209 0.029 8.66e-11 0.3252 0.0501 1 0.45 Diabetic maculopathy (more controls excluded) INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 2.02e-13 0.217 0.029 1.67e-11 0.3384 0.0503 1 0.45 Diabetic maculopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.42e-12 0.207 0.029 1.04e-10 0.3227 0.05 1 0.44 Background diabetic retinopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.49e-15 0.219 0.027 1.79e-12 0.3306 0.0469 1 0.5 Myeloproliferative diseases EXPH5 11:108512949:A:G 11 108512949 rs10749920 missense_variant 51261 0.998 recessive 5.93e-08 0.735 0.136 1e-04 Myeloproliferative diseases (CML excluded) EXPH5 11:108512949:A:G 11 108512949 rs10749920 missense_variant 51261 0.998 recessive 7.32e-08 0.787 0.146 1e-04 Essential (haemorrhagic) thrombocythaemia EXPH5 11:108512949:A:G 11 108512949 rs10749920 missense_variant 51261 0.998 recessive 1.32e-05 0.913 0.209 1e-04 Polycythaemia vera EXPH5 11:108512949:A:G 11 108512949 rs10749920 missense_variant 51261 0.998 recessive 3.84e-05 0.816 0.198 1e-04 Alzheimer's disease (Late onset) (more controls excluded) INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 5.48e-05 -0.107 0.027 8.28e-06 -0.1964 0.0441 1254.5 Severe non-proliferative background diabetic retinopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 3.2e-06 0.271 0.058 9.35e-07 0.4938 0.1007 Diabetic hypoglycemia INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 2.06e-07 0.105 0.02 2.64e-06 0.1605 0.0342 Diabetic retinopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.52e-08 0.059 0.01 4.39e-07 0.0886 0.0175 Diabetic retinopathy (more controls excluded) INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 5.56e-08 0.06 0.011 1.15e-06 0.0899 0.0185 Diabetes, several complications INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 8.94e-07 0.08 0.016 4.15e-05 0.1123 0.0274 Type 1 diabetes with neurological complications INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 5.42e-08 0.275 0.051 1.19e-06 0.4191 0.0863 Type 1 diabetes with renal complications INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 4.12e-09 0.23 0.039 2.6e-07 0.3436 0.0667 Type 2 diabetes with ketoacidosis INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 7.24e-06 0.291 0.065 1.02e-05 0.4888 0.1108 Type 2 diabetes with ophthalmic complications INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 9.53e-05 0.106 0.027 1e-04 Other disorders of glucose regulation and pancreatic internal secretion INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.14e-05 0.148 0.034 4.33e-05 0.2338 0.0572 709.7 1114.2 1.982e-07 0.2764 Hypoglycaemia, other or unspecified INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 1.18e-05 0.169 0.039 2.74e-05 0.2761 0.0658 Alzheimer disease INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 9.31e-05 -0.082 0.021 2.91e-05 -0.1457 0.0348 Alzheimer disease (more controls excluded) INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 3.49e-05 -0.093 0.023 3.14e-05 -0.1563 0.0375 Other degenerative diseases of the nervous system INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 5.91e-05 -0.076 0.019 2.21e-05 -0.1344 0.0317 Disorders of choroid and retina INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 2.64e-08 0.056 0.01 2.95e-07 0.0871 0.017 Severe diabetic background retinopathy INS 11:2159830:T:G 11 2159830 rs3842753 missense_variant 0.791738 230246 60629 1.1 0.986 (likely)Benign Criteria_oneSubmitter both 4.41e-06 0.268 0.058 1.26e-06 0.4882 0.1007 Other noninflammatory disorders of uterus, except cervix APPL2 12:105211248:G:A 12 105211248 rs138491961 pLoF 1145 0.996 unknown 3.69e-08 5.539 1.006 1e-04 3 0 0.3279 Endometriosis APPL2 12:105211248:G:A 12 105211248 rs138491961 pLoF 1145 0.996 unknown 4.62e-06 2.953 0.645 1e-04 Cardiac murmurs and other cardiac sounds SLCO1A2 12:21334610:A:G 12 21334610 rs10841795 missense_variant 34663 1 unknown 1.38e-08 1.031 0.182 1e-04 34 44 2.581e-07 1.3632 0.4764 Endometriosis of ovary USP5 12:6856835:G:A 12 6856835 rs200723728 missense_variant 1061 0.988 unknown 3.81e-08 8.472 1.54 1e-04 1.8 0 0.433 Endometriosis USP5 12:6856835:G:A 12 6856835 rs200723728 missense_variant 1061 0.988 unknown 9.56e-07 4.225 0.862 1e-04 Other noninflammatory disorders of uterus, except cervix USP5 12:6856835:G:A 12 6856835 rs200723728 missense_variant 1061 0.988 unknown 1.26e-06 4.842 0.999 1e-04 2.5 Sensorineural hearing loss GJB2 13:20189481:A:G 13 20189481 rs35887622 missense_variant 8062 0.965 (likely)Pathogenic Criteria_multSubmitter both 1.56e-11 1.529 0.227 1e-04 Conductive and sensorineural hearing loss GJB2 13:20189481:A:G 13 20189481 rs35887622 missense_variant 8062 0.965 (likely)Pathogenic Criteria_multSubmitter both 3.26e-11 1.431 0.216 1e-04 Other disorders of ear GJB2 13:20189481:A:G 13 20189481 rs35887622 missense_variant 8062 0.965 (likely)Pathogenic Criteria_multSubmitter both 1.15e-08 1.064 0.186 1e-04 Diseases of the ear and mastoid process GJB2 13:20189481:A:G 13 20189481 rs35887622 missense_variant 8062 0.965 (likely)Pathogenic Criteria_multSubmitter both 2.54e-05 0.55 0.131 1e-04 Presence of other devices GJB2 13:20189481:A:G 13 20189481 rs35887622 missense_variant 8062 0.965 (likely)Pathogenic Criteria_multSubmitter both 9.25e-05 2.48 0.634 1e-04 Sensorineural hearing loss GJB2 13:20189546:AC:A 13 20189546 rs398123814 pLoF 0.01156 52 4195 0.86 0.99 (likely)Pathogenic Criteria_multSubmitter both 2.86e-28 6.485 0.588 1e-04 22.1 31.1 3.689e-42 14.662 0.28 Conductive and sensorineural hearing loss GJB2 13:20189546:AC:A 13 20189546 rs398123814 pLoF 0.01156 52 4195 0.86 0.99 (likely)Pathogenic Criteria_multSubmitter both 4.91e-27 6.042 0.561 1e-04 22.1 31.1 1.883e-40 13.6669 Other disorders of ear GJB2 13:20189546:AC:A 13 20189546 rs398123814 pLoF 0.01156 52 4195 0.86 0.99 (likely)Pathogenic Criteria_multSubmitter both 9.27e-26 4.744 0.452 9.29e-05 0.2149 0.055 Diseases of the ear and mastoid process GJB2 13:20189546:AC:A 13 20189546 rs398123814 pLoF 0.01156 52 4195 0.86 0.99 (likely)Pathogenic Criteria_multSubmitter both 9.67e-19 2.585 0.292 1e-04 Other hearing loss GJB2 13:20189546:AC:A 13 20189546 rs398123814 pLoF 0.01156 52 4195 0.86 0.99 (likely)Pathogenic Criteria_multSubmitter both 6.14e-15 22.667 2.906 1e-04 Presence of other devices GJB2 13:20189546:AC:A 13 20189546 rs398123814 pLoF 0.01156 52 4195 0.86 0.99 (likely)Pathogenic Criteria_multSubmitter both 2.22e-09 9.621 1.609 1e-04 Fitting and adjustment of other devices GJB2 13:20189546:AC:A 13 20189546 rs398123814 pLoF 0.01156 52 4195 0.86 0.99 (likely)Pathogenic Criteria_multSubmitter both 8.51e-08 5.34 0.997 1e-04 Other specified/unspecified hearing loss GJB2 13:20189546:AC:A 13 20189546 rs398123814 pLoF 0.01156 52 4195 0.86 0.99 (likely)Pathogenic Criteria_multSubmitter both 1.15e-07 60.856 11.481 1e-04 Persons encountering health services for specific procedures and health care GJB2 13:20189546:AC:A 13 20189546 rs398123814 pLoF 0.01156 52 4195 0.86 0.99 (likely)Pathogenic Criteria_multSubmitter both 3.88e-06 1.691 0.366 1e-04 Persons with potential health hazards related to family and personal history and certain conditions influencing health status GJB2 13:20189546:AC:A 13 20189546 rs398123814 pLoF 0.01156 52 4195 0.86 0.99 (likely)Pathogenic Criteria_multSubmitter both 3.29e-05 1.606 0.387 1e-04 Emphysema SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 2.16e-21 28 2.948 7.9e-11 1.7889 0.2751 1 0.9 13 20 2.524e-31 51.8453 0.03675 Other metabolic disorders SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 6.08e-34 17.346 1.428 5.89e-21 1.6323 0.1738 1 0.96 25 38 1.886e-47 27.957 Immunodeficiency with predominantly antibody defects IGHG3 14:105769806:G:A 14 105769806 rs74093865 missense_variant 0.397386 58156 87839 1.4 0.921 unknown 4.44e-08 0.497 0.091 7.46e-05 0.352 0.0889 79.4 101.1 3.226e-05 0.574 0.4536 Immunodeficiencies IGHG3 14:105769806:G:A 14 105769806 rs74093865 missense_variant 0.397386 58156 87839 1.4 0.921 unknown 9.8e-07 0.315 0.064 1e-04 Recurrent dislocation of patella IGHG3 14:105769806:G:A 14 105769806 rs74093865 missense_variant 0.397386 58156 87839 1.4 0.921 unknown 8.17e-05 0.225 0.057 1e-04 Early onset COPD SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.67e-10 5.118 0.801 3.13e-07 0.5414 0.1058 COPD (mode) SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.45e-08 3.353 0.592 1.46e-05 0.3719 0.0858 COPD SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 8.37e-17 4.591 0.551 1.72e-07 0.4067 0.0778 Chronic lower respiratory diseases SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 2.72e-10 1.271 0.201 2.73e-05 0.1568 0.0374 Bronchiectasis SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 2.65e-15 16.198 2.049 1.41e-07 1.0594 0.2013 Other chronic obstructive pulmonary disease SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 8.21e-12 3.887 0.569 8.84e-06 0.3516 0.0791 Metabolic disorders SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.43e-11 1.72 0.255 1e-04 COPD, hospital admissions SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.26e-10 3.404 0.529 2.33e-05 0.3311 0.0783 COPD, early/later onset SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.38e-10 3.38 0.527 2.42e-05 0.3283 0.0778 Asthma/COPD (KELA code 203) SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 3.46e-10 1.701 0.271 1e-04 Asthma and opportunit respiratory infection SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 2.64e-09 16.823 2.826 8.33e-05 1.1047 0.2808 COPD related to chronic (opportunist) infections SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.75e-08 47.651 8.457 4.89e-05 1.9085 0.47 Lung transplantation SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 7.22e-07 5.446 1.099 1e-04 7 9 1.944e-18 156.0303 Asthma SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 8.6e-07 1.219 0.248 1e-04 Transplanted organ and tissue status SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 9.43e-07 5.2 1.061 1e-04 Asthma (more controls excluded) SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.31e-06 1.179 0.244 1e-04 COPD-related respiratory insufficiency SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.42e-06 2.097 0.435 1e-04 All pneumoniae SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.81e-06 0.994 0.208 1e-04 Pneumonias (Asthma/COPD co-morbidities) SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 2.12e-06 0.981 0.207 1e-04 Asthma-related pneumonia or sepsis SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 2.25e-06 0.976 0.206 1e-04 Influenza and pneumonia SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 2.36e-06 0.935 0.198 1e-04 Respiratory insufficiency SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 3.7e-06 11.816 2.553 1e-04 Asthma (only as main-diagnosis) SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 5.49e-06 1.218 0.268 1e-04 Asthma (only as main-diagnosis) (more controls excluded) SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 8.04e-06 1.174 0.263 1e-04 Asthma-related pneumonia SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.52e-05 0.827 0.191 1e-04 COPD/asthma related pneumonia or pneumonia derived septichaemia SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.62e-05 0.822 0.191 1e-04 COPD/asthma/ILD related pneumonia or pneumonia derived septichaemia SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.62e-05 0.822 0.191 1e-04 Pneumonia (excl. viral and due to other infectious organisms not elsewhere classified) SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.68e-05 0.888 0.206 1e-04 Asthma, hospital admissions , main diagnosis only SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 1.72e-05 1.113 0.259 1e-04 Problems related to employment and unemployment SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 2e-05 17.818 4.178 1e-04 Pneumonia, organism unsepcified SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 2.96e-05 0.963 0.23 1e-04 ILD differential diagnosis SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 8.15e-05 0.469 0.119 1e-04 Multiple delivery SERPINA1 14:94378610:C:T 14 94378610 rs28929474 missense_variant 0.0198482 154 7138 1.1 0.999 (likely)Pathogenic Criteria_multSubmitter recessive 9.93e-05 5.577 1.433 1e-04 Postpartum haemorrhage USP8 15:50465088:A:G 15 50465088 rs147742292 missense_variant 3791 0.994 (likely)Benign Criteria_oneSubmitter unknown 2.05e-08 17.553 3.13 1e-04 2 0 0.4909 Demyelenating diseases of the central nervous system C15orf40 15:82988716:T:C 15 82988716 rs115868366 missense_variant 4571 0.998 unknown 3.94e-08 11.258 2.049 1e-04 6 6 1.55e-06 12.299 0.1958 MS-disease / Multiple Sclerosis C15orf40 15:82988716:T:C 15 82988716 rs115868366 missense_variant 4571 0.998 unknown 4.32e-07 11.444 2.264 1e-04 Other degenerative diseases of the nervous system C15orf40 15:82988716:T:C 15 82988716 rs115868366 missense_variant 4571 0.998 unknown 3.06e-06 3.596 0.771 1e-04 Other demyelinating diseases of the central nervous system C15orf40 15:82988716:T:C 15 82988716 rs115868366 missense_variant 4571 0.998 unknown 2.38e-05 16.234 3.841 1e-04 Demyelenating diseases of the central nervous system FAM103A1 15:82989048:G:T 15 82989048 rs61738562 missense_variant 4571 0.998 unknown 3.94e-08 11.258 2.049 1e-04 MS-disease / Multiple Sclerosis FAM103A1 15:82989048:G:T 15 82989048 rs61738562 missense_variant 4571 0.998 unknown 4.32e-07 11.444 2.264 1e-04 Other degenerative diseases of the nervous system FAM103A1 15:82989048:G:T 15 82989048 rs61738562 missense_variant 4571 0.998 unknown 3.06e-06 3.596 0.771 1e-04 Other demyelinating diseases of the central nervous system FAM103A1 15:82989048:G:T 15 82989048 rs61738562 missense_variant 4571 0.998 unknown 2.38e-05 16.234 3.841 1e-04 Complications following infusion, transfusion and therapeutic injection DNAH3 16:21140592:G:T 16 21140592 rs72780891 missense_variant 0.255044 24028 69672 1.4 0.998 unknown 7.94e-08 1.144 0.213 4.33e-05 0.5896 0.1442 Hereditary retinal dystrophy CNGB1 16:57901371:T:A 16 57901371 rs201162411 missense_variant 0.00623319 28 2262 8.2 0.99 Conflicting Path_Criteria_oneSubmitter_confl recessive 2.01e-10 124.317 19.545 5.82e-07 5.0517 1.0109 4 9 1.022e-22 359.6706 0.108 Other specified congenital malformation syndromes affecting multiple systems TRIM37 17:59079879:T:C 17 59079879 rs186251998 pLoF 0.0052288 10 1911 250 0.96 recessive 2.99e-10 37.451 5.945 6.29e-05 3.9159 0.9785 4 8 1.801e-20 109.9502 0.6968 Other congenital malformations TRIM37 17:59079879:T:C 17 59079879 rs186251998 pLoF 0.0052288 10 1911 250 0.96 recessive 1.04e-07 18.662 3.508 1e-04 Endocrine, nutritional and metabolic diseases TRIM37 17:59079879:T:C 17 59079879 rs186251998 pLoF 0.0052288 10 1911 250 0.96 recessive 3.16e-05 2.4 0.577 1e-04 Asthma, hospital admissions , main diagnosis only TRIM37 17:59079879:T:C 17 59079879 rs186251998 pLoF 0.0052288 10 1911 250 0.96 recessive 8.36e-05 3.715 0.944 1e-04 Statin medication FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 4.61e-07 0.05 0.01 5.85e-08 0.0544 0.01 1 0.019 7866.3 Disorders of gallbladder, biliary tract and pancreas FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 5.44e-06 0.055 0.012 1e-04 -1 1.1e-12 Cholelithiasis, broad definition with cholecystitis FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 1.16e-05 0.058 0.013 1e-04 -1 4.9e-15 2401.3 3696.8 2.747e-07 0.1125 Cholelithiasis FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 7.34e-06 0.061 0.014 1e-04 -1 1.1e-06 Dependence on enabling machines and devices, not elsewhere classified NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.68e-08 12.061 2.138 2.13e-07 4.3321 0.8351 -1 0.049 Dependence on enabling machines and devices, not elsewhere classified WDR62 19:36103951:G:A 19 36103951 rs17851503 missense_variant 0.0472008 838 16503 0.9 0.993 VUS Criteria_multSubmitter recessive 2.33e-07 5.845 1.13 1.22e-05 1.5331 0.3505 -1 0.001 Transplanted organ and tissue status NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 6.65e-19 29.194 3.287 3.1e-09 1.6437 0.2774 1 0.96 Transplanted organ and tissue status WDR62 19:36103951:G:A 19 36103951 rs17851503 missense_variant 0.0472008 838 16503 0.9 0.993 VUS Criteria_multSubmitter recessive 1.96e-10 3.249 0.511 1.92e-05 0.4637 0.1085 -1 0.00021 Nephrotic syndrome NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 6.21e-22 33.507 3.481 1.29e-14 4.042 0.5245 1 0.98 11 21 9.848e-41 72.4479 0.004598 Nephrotic syndrome WDR62 19:36103951:G:A 19 36103951 rs17851503 missense_variant 0.0472008 838 16503 0.9 0.993 VUS Criteria_multSubmitter recessive 4.9e-13 6.801 0.941 9.57e-08 1.0214 0.1915 -1 1.9e-07 Dialysis NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.09e-15 12.552 1.566 3.66e-12 2.9077 0.4184 1 0.83 Dialysis WDR62 19:36103951:G:A 19 36103951 rs17851503 missense_variant 0.0472008 838 16503 0.9 0.993 VUS Criteria_multSubmitter recessive 1.1e-10 4.184 0.648 3.17e-08 0.9298 0.1681 -1 0.00012 Lung transplantation NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 7.28e-19 29.411 3.316 4.52e-09 1.612 0.2749 1 0.95 10 Lung transplantation WDR62 19:36103951:G:A 19 36103951 rs17851503 missense_variant 0.0472008 838 16503 0.9 0.993 VUS Criteria_multSubmitter recessive 3.66e-10 3.106 0.496 2.06e-05 0.461 0.1083 -1 0.00028 COPD/asthma related pneumonia or pneumonia derived septichaemia NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 2.53e-05 2.739 0.65 1e-04 Cardiovascular diseases (excluding rheumatic etc) NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 2.36e-13 4.95 0.676 1e-04 Hypertensive diseases (excluding secondary) NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.91e-20 28.798 3.107 1e-04 Cardiovascular diseases NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 3.42e-12 4.083 0.587 1e-04 COPD/asthma/ILD related pneumonia or pneumonia derived septichaemia NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 2.53e-05 2.739 0.65 1e-04 Chronic kidney disease NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 2.88e-21 42.335 4.472 1e-04 Renal failure NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 8.53e-21 37.422 4.001 1e-04 Glomerulonephritis NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.31e-19 31.604 3.489 1e-04 Glomerular diseases NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 3.49e-18 17.264 1.986 1e-04 COPD-related respiratory insufficiency NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 3.21e-17 20.396 2.417 1e-04 Diabetic nephropathy NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 2.64e-16 14.071 1.718 1.54e-05 0.697 0.1613 Diabetic nephropathy (more controls excluded) NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 4.92e-16 12.833 1.582 2.95e-05 0.6671 0.1597 Persons with potential health hazards related to family and personal history and certain conditions influencing health status NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 6.35e-16 12.865 1.592 1e-04 Diabetes-related co-morbidities/complications (more controls excluded) NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 4.45e-15 7.169 0.914 1e-04 Hypertension NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 6.53e-15 9.282 1.191 1e-04 Hypertensive diseases NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 8.49e-15 9.199 1.185 1e-04 Care involving dialysis NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 5.67e-13 26.31 3.65 1.6e-06 1.4676 0.3059 Genitourinary diseases NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.9e-10 2.612 0.41 1e-04 Other heart diseases NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 3.52e-10 7.857 1.252 1e-04 Renal tubulo-intestitial diseases NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 8.71e-10 7.3 1.191 1e-04 Gastrointestinal diseases NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.05e-08 1.973 0.345 1e-04 Medical observation and evaluation for suspected diseases and conditions NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.06e-08 2.553 0.446 1e-04 Acute tubulo-interstitial nephritis NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.34e-08 10.894 1.917 1e-04 Persons encountering health services for specific procedures and health care NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.39e-08 4.981 0.878 1e-04 Secondary hypertension NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 2.08e-08 30.649 5.468 1e-04 Viral infections characterized by skin and mucous membrane lesions NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 4.21e-08 9.762 1.781 1e-04 All-cause Heart Failure NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.17e-07 9.02 1.702 1e-04 Heart failure, not strict NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.45e-07 8.865 1.686 1e-04 Hernia NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.95e-07 5.47 1.051 1e-04 Other special examinations and investigations of persons without complaint or reported diagnosis NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 2.27e-07 1.976 0.382 1e-04 Any gastric operation NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 4.11e-07 2.069 0.409 1e-04 Non-ischemic cardiomyopathy NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 6.41e-07 11.116 2.233 1e-04 Hernia of abodminal wall, postoperative NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.04e-06 20.335 4.164 1e-04 Other heart diseases NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.21e-06 3.348 0.69 1e-04 Intestinal infectious diseases NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 3.43e-06 2.147 0.462 1e-04 9 19 3.945e-13 5.0637 Influenza and pneumonia NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 4.12e-06 3.064 0.665 1e-04 Cough NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 4.49e-06 6.392 1.393 1e-04 Medication related adverse effects (Asthma/COPD) NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 5.77e-06 5.149 1.135 1e-04 Other bacterial diseases NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 5.94e-06 5.075 1.121 1e-04 Other disorders of ear NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 8.82e-06 6.764 1.522 1e-04 Cystitis NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 9.81e-06 8.234 1.862 1e-04 Examination and observation for other reasons NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.06e-05 4.846 1.1 1e-04 General symptoms and signs NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.1e-05 1.853 0.421 1e-04 General examination and investigation of persons without complaint and reported diagnosis NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.28e-05 3.15 0.722 1e-04 Disorders of refraction and accommodation NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.3e-05 5.284 1.212 1e-04 Persons encountering health services for examination and investigation NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 1.58e-05 1.146 0.265 1e-04 Asthma-related pneumonia or sepsis NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 2.24e-05 3.047 0.719 1e-04 Other disorders of urethra and urinary system NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 3.12e-05 6.12 1.47 1e-04 Valvular heart disease including rheumatic fever NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 4.1e-05 3.153 0.769 1e-04 Valvular operations NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 4.15e-05 3.138 0.765 1e-04 Pneumonia, organism unsepcified NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 4.17e-05 3.541 0.864 1e-04 Other diseases of urinary system NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 5.54e-05 4.053 1.005 1e-04 Conductive and sensorineural hearing loss NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 5.63e-05 7.171 1.781 1e-04 3.2 All influenza (not pneumonia) NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 5.69e-05 11.202 2.783 1e-04 Other cataract NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 6.43e-05 11.695 2.926 1e-04 2.2 Other nutritional anaemias NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 6.75e-05 785.143 197.024 1e-04 Glomerular disorders in diseases classified elsewhere NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 7.24e-05 26.962 6.794 1e-04 All influenza NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 7.46e-05 10.326 2.607 1e-04 Other CVD (FINNGEN) NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 8.9e-05 57.685 14.72 1e-04 Hyperosmolality and hypernatraemia NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 9.24e-05 496.815 127.07 1e-04 Other specified/unspecified bacterial intestinal infections NPHS1 19:35851608:CAG:C 19 35851608 rs386833873 pLoF 0.00903949 26 3295 470 0.967 (likely)Pathogenic Criteria_multSubmitter recessive 9.36e-05 29.404 7.527 1e-04 Glomerular diseases WDR62 19:36103951:G:A 19 36103951 rs17851503 missense_variant 0.0472008 838 16503 0.9 0.993 VUS Criteria_multSubmitter recessive 1.04e-07 1.243 0.234 1e-04 Care involving dialysis WDR62 19:36103951:G:A 19 36103951 rs17851503 missense_variant 0.0472008 838 16503 0.9 0.993 VUS Criteria_multSubmitter recessive 1.92e-07 2.772 0.532 5.09e-06 0.5673 0.1244 Diabetic nephropathy WDR62 19:36103951:G:A 19 36103951 rs17851503 missense_variant 0.0472008 838 16503 0.9 0.993 VUS Criteria_multSubmitter recessive 8.69e-07 1.29 0.262 1e-04 Diabetic nephropathy (more controls excluded) WDR62 19:36103951:G:A 19 36103951 rs17851503 missense_variant 0.0472008 838 16503 0.9 0.993 VUS Criteria_multSubmitter recessive 1.5e-06 1.221 0.254 1e-04 Glomerulonephritis WDR62 19:36103951:G:A 19 36103951 rs17851503 missense_variant 0.0472008 838 16503 0.9 0.993 VUS Criteria_multSubmitter recessive 7.62e-06 1.008 0.225 1e-04 Chronic kidney disease WDR62 19:36103951:G:A 19 36103951 rs17851503 missense_variant 0.0472008 838 16503 0.9 0.993 VUS Criteria_multSubmitter recessive 2.08e-05 1.051 0.247 1e-04 Dialysis SIPA1L3 19:38182658:C:G 19 38182658 rs3745945 missense_variant 0.0727678 2062 24672 0.96 0.992 (likely)Benign Criteria_oneSubmitter recessive 2.59e-08 2.232 0.401 3.29e-05 0.5405 0.1302 Care involving dialysis SIPA1L3 19:38182658:C:G 19 38182658 rs3745945 missense_variant 0.0727678 2062 24672 0.96 0.992 (likely)Benign Criteria_oneSubmitter recessive 1.33e-07 1.61 0.305 5.01e-06 0.4578 0.1003 Nephrotic syndrome SIPA1L3 19:38182658:C:G 19 38182658 rs3745945 missense_variant 0.0727678 2062 24672 0.96 0.992 (likely)Benign Criteria_oneSubmitter recessive 1.4e-07 2.595 0.493 2.01e-05 0.6312 0.148 Lung transplantation SIPA1L3 19:38182658:C:G 19 38182658 rs3745945 missense_variant 0.0727678 2062 24672 0.96 0.992 (likely)Benign Criteria_oneSubmitter recessive 2.25e-07 1.374 0.265 2.08e-05 0.3729 0.0876 Transplanted organ and tissue status SIPA1L3 19:38182658:C:G 19 38182658 rs3745945 missense_variant 0.0727678 2062 24672 0.96 0.992 (likely)Benign Criteria_oneSubmitter recessive 2.31e-07 1.369 0.265 2.15e-05 0.3724 0.0876 Dependence on enabling machines and devices, not elsewhere classified SIPA1L3 19:38182658:C:G 19 38182658 rs3745945 missense_variant 0.0727678 2062 24672 0.96 0.992 (likely)Benign Criteria_oneSubmitter recessive 2.42e-06 3.573 0.758 1e-04 Glomerular diseases SIPA1L3 19:38182658:C:G 19 38182658 rs3745945 missense_variant 0.0727678 2062 24672 0.96 0.992 (likely)Benign Criteria_oneSubmitter recessive 4.34e-05 0.533 0.13 1e-04 Diabetic nephropathy SIPA1L3 19:38182658:C:G 19 38182658 rs3745945 missense_variant 0.0727678 2062 24672 0.96 0.992 (likely)Benign Criteria_oneSubmitter recessive 9.92e-05 0.596 0.153 1e-04 Intestinal infectious diseases FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 4.01e-09 -0.069 0.012 1e-04 2093.9 3252.6 4.335e-15 -0.1534 0.06357 Duodenal ulcer FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 2.12e-05 0.171 0.04 1e-04 Type 1 diabetes, strict definition FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 2.21e-08 0.205 0.037 6.35e-07 0.184 0.0369 Type 1 diabetes, strict definition, subgroup 1 FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 6.97e-08 0.21 0.039 1.91e-06 0.1871 0.0393 Type1 diabetes, definitions combined FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 1.24e-07 0.176 0.033 3.27e-07 0.172 0.0337 Type 1 diabetes, strict (exclude DM2) FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 1.69e-07 0.175 0.034 1e-06 0.1661 0.034 Type 1 diabetes without complications FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 2.51e-06 0.119 0.025 1e-04 Type 1 diabetes FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 2.37e-05 0.097 0.023 1e-04 Type 1 diabetes, wide definition, subgroup 1 FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 3.53e-05 0.106 0.026 1e-04 662.6 1067.8 4.996e-09 0.2484 Other noninflammatory disorders of uterus, except cervix FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 3.53e-05 0.1 0.024 1e-04 709 972.6 0.0003353 0.1455 Diabetic ketoacidosis FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 3.9e-05 0.106 0.026 1e-04 Alcohol abuse counselling and surveillance FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 4.46e-05 0.609 0.149 1e-04 Type 1 diabetes with other specified/multiple/unspecified complications FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 5.6e-05 0.12 0.03 1e-04 Type 1 diabetes with ophthalmic complications FUT2 19:48703417:G:A 19 48703417 rs601338 pLoF 0.374424 51810 85749 0.77 0.997 association no_Criteria recessive 7.79e-05 0.128 0.032 1e-04 Mild mental retardation ZNF415 19:53108802:T:C 19 53108802 rs10410030 missense_variant 31943 0.996 unknown 1.56e-08 2.098 0.371 1e-04 17.5 16.5 1.825e-05 2.3146 0.6558 Mental retardation ZNF415 19:53108802:T:C 19 53108802 rs10410030 missense_variant 31943 0.996 unknown 1.71e-07 1.523 0.291 1e-04 Mental retardation ZNF415 19:53108802:T:C 19 53108802 rs10410030 missense_variant 31943 0.996 unknown 4.77e-07 1.396 0.277 1e-04 Varicose veins CEP250 20:35504248:G:A 20 35504248 rs56259282 missense_variant 1694 0.951 recessive 1.27e-08 4.331 0.761 1e-04 4.1 5.4 2.228e-05 6.0075 0.3525 Diseases of veins, lymphatic vessels and lymph nodes, not elsewhere classified CEP250 20:35504248:G:A 20 35504248 rs56259282 missense_variant 1694 0.951 recessive 7.07e-06 2.86 0.637 1e-04 Unspecified lump in breast PLTP 20:45904979:C:T 20 45904979 rs56126980 missense_variant 1779 0.995 unknown 1.61e-11 15.455 2.294 1e-04 3.1 3 0.932 Benign neoplasm of breast (other cancers excluded from controls) PLTP 20:45904979:C:T 20 45904979 rs56126980 missense_variant 1779 0.995 unknown 1.4e-10 15.042 2.344 1e-04 Disorders of breast PLTP 20:45904979:C:T 20 45904979 rs56126980 missense_variant 1779 0.995 unknown 3.34e-06 7.412 1.595 1e-04 Other disorders of glucose regulation and pancreatic internal secretion PCK1 20:57563691:G:A 20 57563691 rs201186470 missense_variant 0.010836 50 3931 72 0.997 Conflicting Path_Criteria_oneSubmitter_confl recessive 4.65e-08 9.773 1.788 1e-04 6 9 1.798e-12 28.4026 0.2246 Hypoglycaemia, other or unspecified PCK1 20:57563691:G:A 20 57563691 rs201186470 missense_variant 0.010836 50 3931 72 0.997 Conflicting Path_Criteria_oneSubmitter_confl recessive 3.36e-06 12.321 2.651 1e-04 Motor neuron disease SOD1 21:31667290:A:C 21 31667290 rs80265967 missense_variant 0.00915381 18 3345 20 0.999 Conflicting Path_Criteria_multSubmitter_confl both 1.31e-08 116.661 20.52 1e-04 3 8 1.758e-19 213.9682 0.172 Motor neuron disease (with DMD) SOD1 21:31667290:A:C 21 31667290 rs80265967 missense_variant 0.00915381 18 3345 20 0.999 Conflicting Path_Criteria_multSubmitter_confl both 2.25e-08 110.811 19.818 5.26e-05 2.7917 0.6904 Systemic atrophies primarly affecting the central nervous system SOD1 21:31667290:A:C 21 31667290 rs80265967 missense_variant 0.00915381 18 3345 20 0.999 Conflicting Path_Criteria_multSubmitter_confl both 1.68e-07 57.863 11.06 1e-04 Other respiratory disorders and diseases SOD1 21:31667290:A:C 21 31667290 rs80265967 missense_variant 0.00915381 18 3345 20 0.999 Conflicting Path_Criteria_multSubmitter_confl both 3.5e-06 23.066 4.972 1e-04 Other diseases of the respiratory system SOD1 21:31667290:A:C 21 31667290 rs80265967 missense_variant 0.00915381 18 3345 20 0.999 Conflicting Path_Criteria_multSubmitter_confl both 3.5e-06 23.066 4.972 1e-04 Other diseases of pleura SOD1 21:31667290:A:C 21 31667290 rs80265967 missense_variant 0.00915381 18 3345 20 0.999 Conflicting Path_Criteria_multSubmitter_confl both 6.71e-05 9.056 2.272 1e-04