Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1490204625
rs1490204625
5 0.925 0.160 5 87268486 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs2749817
rs2749817
3 0.925 0.120 20 23078618 downstream gene variant T/C snv 0.56 0.010 1.000 1 2015 2015
dbSNP: rs752021744
rs752021744
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.010 1.000 1 2016 2016