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: rs515726224
rs515726224
3 0.925 0.320 8 38417962 missense variant C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs515726225
rs515726225
2 1.000 0.160 8 38414254 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs606231407
rs606231407
2 1.000 0.040 10 101770613 missense variant C/T snv 1.6E-05 0.700 1.000 1 2013 2013
dbSNP: rs12877501
rs12877501
4 0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 0.700 0
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.040 1.000 4 2008 2018
dbSNP: rs11931074
rs11931074
7 0.851 0.080 4 89718364 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121909635
rs121909635
6 0.827 0.240 8 38426158 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
7 0.827 0.240 8 38414569 stop gained G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs2590498
rs2590498
2 1.000 0.040 9 135548199 intron variant A/G snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs267606805
rs267606805
5 0.851 0.240 8 38414173 missense variant G/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs267606806
rs267606806
5 0.851 0.240 8 38414166 missense variant G/A;C snv 1.2E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs894278
rs894278
4 0.882 0.080 4 89813384 intron variant T/G snv 0.15 0.010 1.000 1 2017 2017