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 0.040 1.000 4 2013 2019
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.020 1.000 2 2016 2018
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016