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: rs121908523
rs121908523
3 0.882 0.160 2 240868986 missense variant G/A snv 1.2E-05 4.2E-05 0.700 1.000 1 2018 2018
dbSNP: rs121908525
rs121908525
7 0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05 0.700 1.000 1 2018 2018
dbSNP: rs180177161
rs180177161
3 0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-06 0.700 1.000 1 2018 2018
dbSNP: rs180177227
rs180177227
3 0.882 0.160 2 240871406 missense variant G/A;C;T snv 1.8E-05; 1.3E-05 0.700 1.000 1 2018 2018