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: rs1057516085
rs1057516085
8 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs117067974
rs117067974
5 0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs118192211
rs118192211
9 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs74315390
rs74315390
8 0.790 0.120 20 63439609 missense variant C/G;T snv 0.010 1.000 1 2016 2016