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: rs121913492
rs121913492
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.740 1.000 12 1989 2018
dbSNP: rs1057519853
rs1057519853
6 0.851 0.080 9 77794572 missense variant TG/AA mnv 0.030 1.000 3 2012 2018