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: rs1044396
rs1044396
17 0.742 0.240 20 63349782 missense variant G/A;C snv 0.47; 6.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs2229910
rs2229910
1 1.000 0.040 15 88032954 missense variant G/A;C;T snv 6.8E-05; 0.35; 7.5E-04 0.010 1.000 1 2016 2016