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: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.040 1.000 4 2000 2003
dbSNP: rs57520892
rs57520892
8 0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05 0.020 1.000 2 2003 2003
dbSNP: rs121909244
rs121909244
11 0.776 0.160 3 12434111 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121909245
rs121909245
2 0.925 0.080 3 12392701 missense variant T/A snv 0.010 1.000 1 2007 2007
dbSNP: rs121912493
rs121912493
2 0.925 0.080 1 156136374 missense variant G/A snv 2.1E-05 0.010 1.000 1 2000 2000
dbSNP: rs397515453
rs397515453
11 0.752 0.440 5 68296301 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs541978825
rs541978825
1 1.000 0.080 9 136676673 missense variant A/G snv 2.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs563539429
rs563539429
5 0.851 0.240 9 136677540 missense variant C/A;G;T snv 4.1E-06; 8.1E-06; 1.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs56657623
rs56657623
5 0.827 0.120 1 156138540 missense variant G/A snv 1.6E-05 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs72551363
rs72551363
3 0.882 0.080 3 12417048 missense variant T/A snv 0.010 1.000 1 2005 2005
dbSNP: rs746782259
rs746782259
1 1.000 0.080 1 161170688 missense variant T/A snv 4.0E-06 0.010 1.000 1 2005 2005