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: rs121918498
rs121918498
2 1.000 0.080 10 121520162 missense variant CG/AA mnv 0.010 1.000 1 1997 1997
dbSNP: rs1799853
rs1799853
11 0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs2234922
rs2234922
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs1051740
rs1051740
56 0.592 0.760 1 225831932 missense variant T/C snv 0.32 0.27 0.010 1.000 1 2010 2010