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: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.040 0.750 4 2001 2015
dbSNP: rs74956615
rs74956615
6 0.807 0.160 19 10317045 3 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs35018800
rs35018800
9 0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03 0.700 1.000 1 2016 2016
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.800 1.000 3 2010 2016
dbSNP: rs280519
rs280519
10 0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs2304256
rs2304256
13 0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23 0.010 1.000 1 2015 2015
dbSNP: rs11879191
rs11879191
2 1.000 0.040 19 10402235 intron variant G/A;C snv 0.700 1.000 2 2015 2017
dbSNP: rs62131887
rs62131887
14 0.724 0.240 19 10476920 intergenic variant C/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs1239681664
rs1239681664
15 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs35074907
rs35074907
6 0.807 0.160 19 10489742 synonymous variant G/A snv 1.9E-02 1.5E-02 0.700 1.000 1 2016 2016
dbSNP: rs11750385
rs11750385
5 0.827 0.120 5 10521556 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs6568421
rs6568421
2 1.000 0.040 6 105987150 regulatory region variant A/G snv 0.23 0.800 1.000 1 2010 2010
dbSNP: rs7746082
rs7746082
5 0.851 0.160 6 105987394 regulatory region variant G/A;C snv 0.810 1.000 4 2008 2017
dbSNP: rs4946717
rs4946717
6 0.827 0.120 6 106026874 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28701841
rs28701841
5 0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs11839053
rs11839053
14 0.724 0.240 13 106410694 intergenic variant T/C snv 7.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs12369214
rs12369214
6 0.807 0.120 12 106804833 intron variant G/A snv 0.41 0.700 1.000 1 2016 2016
dbSNP: rs3776414
rs3776414
DAP
6 0.827 0.120 5 10689450 intron variant T/G snv 0.48 0.700 1.000 1 2016 2016
dbSNP: rs12014762
rs12014762
3 0.882 0.080 X 106940440 intron variant C/T snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs2930047
rs2930047
DAP
3 0.925 0.040 5 10695414 intron variant T/C snv 0.49 0.700 1.000 2 2015 2017
dbSNP: rs6622126
rs6622126
4 0.851 0.080 X 106956972 missense variant G/A snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs878859113
rs878859113
11 0.763 0.360 6 106971734 missense variant G/A snv 0.35 0.030 1.000 3 2014 2015
dbSNP: rs11825977
rs11825977
2 0.925 0.040 11 1075920 splice region variant G/A snv 0.18 0.20 0.010 1.000 1 2006 2006
dbSNP: rs7805114
rs7805114
5 0.827 0.120 7 107809588 downstream gene variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs6466198
rs6466198
5 0.827 0.120 7 107839681 regulatory region variant A/T snv 0.68 0.700 1.000 1 2016 2016