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: rs768963
rs768963
2 0.925 0.120 19 3615409 non coding transcript exon variant G/A;C snv 0.030 1.000 3 2006 2015
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.020 1.000 2 2000 2009
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.020 1.000 2 2008 2014
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.020 1.000 2 2014 2018
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2004 2010
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.020 1.000 2 2003 2009
dbSNP: rs9551963
rs9551963
6 0.851 0.160 13 30758410 intron variant A/C;T snv 0.020 1.000 2 2012 2014
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2004 2004
dbSNP: rs1044006
rs1044006
1 1.000 0.120 19 15174241 synonymous variant T/A;C snv 0.86 0.010 1.000 1 2016 2016
dbSNP: rs1051266
rs1051266
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs1059703
rs1059703
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs112735431
rs112735431
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1207570776
rs1207570776
1 1.000 0.120 2 182757711 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs12342
rs12342
4 0.851 0.240 12 1787714 3 prime UTR variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs2106261
rs2106261
11 0.763 0.160 16 73017721 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2162679
rs2162679
6 0.851 0.240 12 102477481 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2238634
rs2238634
2 0.925 0.200 19 3604731 intron variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs2249825
rs2249825
23 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2270226
rs2270226
1 1.000 0.120 4 26415514 missense variant T/A;C;G snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs2536512
rs2536512
14 0.752 0.280 4 24799693 missense variant G/A;T snv 0.55 0.010 1.000 1 2008 2008
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs3027898
rs3027898
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2008 2008