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: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.800 0.969 106 2002 2018
dbSNP: rs6983267
rs6983267
24 0.667 0.214 8 127401060 non coding transcript exon variant G/T snp 0.38 0.800 1.000 22 2007 2018
dbSNP: rs4939827
rs4939827
12 0.769 0.107 18 48927093 intron variant T/A,C snp 0.56 0.800 1.000 17 2008 2018
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.800 1.000 13 2005 2017
dbSNP: rs3802842
rs3802842
6 0.846 0.143 11 111300984 intron variant C/A snp 0.70 0.790 1.000 15 2008 2017
dbSNP: rs4444235
rs4444235
6 0.846 0.071 14 53944201 intergenic variant T/C snp 0.42 0.760 1.000 7 2008 2016
dbSNP: rs4779584
rs4779584
4 0.878 0.071 15 32702555 intergenic variant T/C snp 0.66 0.740 1.000 8 2008 2016
dbSNP: rs10795668
rs10795668
4 0.878 0.071 10 8659256 intergenic variant G/A snp 0.24 0.740 1.000 7 2008 2017
dbSNP: rs12953717
rs12953717
9 0.769 0.214 18 48927559 intron variant C/T snp 0.36 0.740 1.000 5 2008 2017
dbSNP: rs16892766
rs16892766
5 0.846 0.143 8 116618444 regulatory region variant A/C snp 9.4E-02 0.730 1.000 6 2008 2016
dbSNP: rs3184504
rs3184504
55 0.642 0.393 12 111446804 missense variant T/A,C,G snp 0.67 0.67 0.730 1.000 4 2015 2016
dbSNP: rs10505477
rs10505477
12 0.744 0.179 8 127395198 intron variant A/G snp 0.41 0.720 1.000 6 2007 2017
dbSNP: rs11874392
rs11874392
2 0.923 0.071 18 48926786 intron variant A/T snp 0.50 0.720 1.000 3 2013 2017
dbSNP: rs9929218
rs9929218
4 0.878 0.071 16 68787043 intron variant G/A snp 0.28 0.720 1.000 3 2008 2016
dbSNP: rs1321311
rs1321311
5 0.878 0.071 6 36655123 regulatory region variant C/A snp 0.27 0.720 1.000 2 2012 2016
dbSNP: rs28930073
rs28930073
7 0.784 0.107 3 37007004 missense variant G/C snp 2.1E-04 0.720 1.000 2 2004 2005
dbSNP: rs7229639
rs7229639
3 0.878 0.071 18 48924606 intron variant A/G snp 0.87 0.710 1.000 4 2014 2018
dbSNP: rs10411210
rs10411210
4 0.878 0.071 19 33041394 intron variant C/T snp 0.20 0.710 1.000 2 2008 2016
dbSNP: rs10936599
rs10936599
13 0.734 0.393 3 169774313 synonymous variant C/T snp 0.29 0.22 0.710 1.000 2 2010 2012
dbSNP: rs12241008
rs12241008
2 0.923 0.071 10 112520943 intron variant T/C snp 0.14 0.710 1.000 2 2015 2018
dbSNP: rs3824999
rs3824999
3 0.878 0.071 11 74634505 intron variant T/G snp 0.40 0.710 1.000 2 2012 2016
dbSNP: rs4925386
rs4925386
3 0.878 0.071 20 62345988 intron variant T/C snp 0.58 0.710 1.000 2 2010 2016
dbSNP: rs7226855
rs7226855
3 0.878 0.071 18 48927678 intron variant A/G,T snp 0.51 0.710 1.000 2 2013 2016
dbSNP: rs7758229
rs7758229
6 0.801 0.107 6 160419220 intron variant G/A,T snp 3.2E-05; 0.25 0.710 < 0.001 2 2011 2013
dbSNP: rs121913499
rs121913499
34 0.630 0.464 2 208248389 missense variant G/A,C,T snp 0.710 1.000 1 2015 2015