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["Supplementary Table 4. In silico and population analysis of the AICDA p.(Met139Thr) variant."]
[]
["Gene ","Effect on protein sequence",null,"dbSNP137","Phylopat score","Gerp++ score","SIFTscore","Polyphen-2 score","Mutationtaster prediction"]
[" AICDA NM_020661.2:c.416T>C","NP_065712.1:p.(Met139Thr)",null,"rs200858797",0.99,4.59,"0,96",1,0.99]
[null,"MAF EuNF ","EuNF genotypes ","MAF Non-Eu","Non-Eu genotypes ","MAF Finnish ","Finnish genotypes","chi-squareda","p-value"]
[null,{"v":4.734e-05,"d":"4.73E-05"},"GG=0/GA=3/AA=31683",0,"GG=0/GA=0/AA=45384",0.001825,"GG=0/GA=11/AA=3002",85.9517,{"v":1e-05,"d":"1.00E-05"}]
[]
[]
["Abbreviations: MAF:minor allele (according to RefSeq) frequency;  EuNF: European non Finnish; Non-Eu: population with no European ancestries (African, East Asian, Latino, South Asian, others, according to ExAC). "]
["The genomic reference sequence used is NG_011588.1 (GRCh37.p13). High scores of PhyloP (range 0-1) and Gerp++ (range -12.36-6.18) express the conservation at the amino acid level. The scores of SIFT, Polyphen-2 and Mutationtaster (range 0-1) predict the variant as damaging. The MAF and the genotype counts were retrieved in populations with European (EA) and non-European (non-EA) lineages (Exome Aggregation Consortium (ExAC), Cambridge, MA; http://exac.broadinstitute.org) and in the Finnish population (Sequencing initiative Suomi Consortium, SISu, http://sisu.fimm.fi/). "]
["aA chi-squared test (108 simulations) was performed to compare the allelic distribution among the Finnish and the wider European population (ExAC)."]