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: rs121913530
rs121913530
11 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.730 1.000 2 2014 2019
dbSNP: rs17851045
rs17851045
15 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.700 1.000 1 2016 2016