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: rs104894340
rs104894340
5 0.827 0.200 12 57751647 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11547328
rs11547328
6 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016