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: rs121909216
rs121909216
3 0.882 0.200 5 136055795 missense variant T/G snv 0.810 1.000 2 2006 2011
dbSNP: rs121909217
rs121909217
1 1.000 0.120 5 136062674 missense variant G/A;C snv 1.2E-03 0.800 1.000 1 2006 2006
dbSNP: rs121909215
rs121909215
7 0.790 0.200 5 136060898 missense variant G/A snv 0.010 1.000 1 2016 2016