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: rs121913433
rs121913433
1 1.000 0.040 7 55174771 missense variant A/G snv 0.700 1.000 3 2010 2014
dbSNP: rs1057519887
rs1057519887
3 0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 0.700 1.000 1 2016 2016
dbSNP: rs149840192
rs149840192
3 0.807 0.080 7 55154129 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs769696078
rs769696078
3 0.925 0.040 7 55154128 missense variant G/A snv 0.700 1.000 1 2016 2016