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: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.020 1.000 2 2013 2016
dbSNP: rs749539903
rs749539903
9 0.827 0.120 17 39726987 missense variant G/A snv 8.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs759106015
rs759106015
1 7 55152588 missense variant G/A snv 3.2E-05 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs763371007
rs763371007
1 17 39709441 missense variant G/A snv 4.4E-05 4.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs896171398
rs896171398
2 1.000 0.040 17 39709846 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2015 2015