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: rs121913237
rs121913237
42 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 4 1987 2017
dbSNP: rs11554290
rs11554290
38 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.710 1.000 1 1987 2016