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: rs1057519891
rs1057519891
6 0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519892
rs1057519892
5 0.851 0.160 12 56088558 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
9 0.790 0.160 12 56085070 missense variant G/A;T snv 0.700 1.000 1 2016 2016