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: rs1057519962
rs1057519962
6 0.827 0.160 18 51067035 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580
7 0.807 0.280 18 51067036 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs377767347
rs377767347
14 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs80338963
rs80338963
11 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016