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: rs28934575
rs28934575
25 0.673 0.321 17 7674230 missense variant C/A,G,T snp 0.700 0
dbSNP: rs121434568
rs121434568
33 0.642 0.321 7 55191822 missense variant T/A,G snp 0.100 0.957 23 2005 2017
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.090 1.000 9 2007 2016
dbSNP: rs121434569
rs121434569
29 0.667 0.321 7 55181378 missense variant C/T snp 2.8E-05 9.6E-05 0.090 1.000 9 2007 2017
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.050 1.000 5 2012 2016
dbSNP: rs759728549
rs759728549
26 0.679 0.214 17 7676223 stop lost T/C snp 8.0E-06 0.050 1.000 5 2007 2015
dbSNP: rs2736100
rs2736100
52 0.596 0.571 5 1286401 intron variant C/A snp 0.53 0.030 1.000 3 2010 2014
dbSNP: rs401681
rs401681
22 0.679 0.464 5 1321972 intron variant C/T snp 0.48 0.020 1.000 2 2014 2014
dbSNP: rs1048943
rs1048943
53 0.572 0.571 15 74720644 missense variant T/C snp 0.11 5.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.010 1.000 1 2006 2006
dbSNP: rs10937405
rs10937405
6 0.821 0.071 3 189665394 intron variant C/T snp 0.40 0.010 1.000 1 2011 2011
dbSNP: rs11466345
rs11466345
2 1.000 0.071 19 41337556 intron variant T/C snp 0.12 0.010 1.000 1 2008 2008
dbSNP: rs121434592
rs121434592
56 0.582 0.500 14 104780214 missense variant C/T snp 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs121913418
rs121913418
3 0.923 0.143 7 55174818 missense variant G/A,T snp 3.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs121913444
rs121913444
7 0.801 0.107 7 55191831 missense variant T/A,C,G snp 0.010 1.000 1 2014 2014
dbSNP: rs121913530
rs121913530
39 0.615 0.321 12 25245351 missense variant C/A,G,T snp 0.010 1.000 1 2016 2016
dbSNP: rs121918464
rs121918464
15 0.756 0.321 12 112450406 missense variant G/A,C snp 0.010 1.000 1 2015 2015
dbSNP: rs12296850
rs12296850
3 0.923 0.071 12 100426307 A/G snp 8.9E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs125555
rs125555
4 0.878 0.071 18 50273809 missense variant G/A,C snp 3.6E-05; 0.19 3.2E-05; 0.19 0.010 1.000 1 2006 2006
dbSNP: rs12613347
rs12613347
1 2 201190589 intron variant C/T snp 0.21 0.010 1.000 1 2013 2013
dbSNP: rs1333049
rs1333049
30 0.715 0.286 9 22125504 intergenic variant G/C snp 0.41 0.010 1.000 1 2017 2017
dbSNP: rs143752852
rs143752852
1 3 49902723 missense variant A/G snp 8.8E-05 6.4E-05 0.010 1.000 1 2000 2000
dbSNP: rs144594252
rs144594252
5 0.846 0.071 1 162754625 missense variant C/G snp 6.8E-05 6.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs146795390
rs146795390
6 0.878 0.071 7 55191776 missense variant G/A snp 8.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs16906252
rs16906252
9 0.821 0.107 10 129467281 synonymous variant C/T snp 5.5E-02 5.9E-02 0.010 1.000 1 2011 2011