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: rs11554273
rs11554273
17 0.689 0.240 20 58909365 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913495
rs121913495
15 0.672 0.400 20 58909366 missense variant G/A;T snv 0.700 1.000 1 2016 2016