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: rs121909231
rs121909231
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs121913293
rs121913293
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
dbSNP: rs1224040268
rs1224040268
12 0.742 0.360 10 87931091 splice donor variant T/A;C snv 7.0E-06 0.700 0
dbSNP: rs370795352
rs370795352
13 0.742 0.360 10 87933163 missense variant T/A;C snv 4.0E-06 0.700 0
dbSNP: rs863224909
rs863224909
14 0.732 0.360 10 87960952 stop gained C/A;G snv 0.700 0
dbSNP: rs1197734477
rs1197734477
4 0.925 0.080 10 87961012 missense variant A/G snv 0.010 1.000 1 2017 2017