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: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.900 0.867 15 2008 2019
dbSNP: rs2205960
rs2205960
9 0.763 0.400 1 173222336 intergenic variant G/A;T snv 0.880 1.000 12 2009 2019
dbSNP: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.880 1.000 9 2008 2019
dbSNP: rs3853839
rs3853839
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.080 0.875 8 2010 2019
dbSNP: rs4810485
rs4810485
16 0.732 0.480 20 46119308 intron variant T/A;G snv 0.770 1.000 8 2011 2019
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.070 0.714 7 2009 2017
dbSNP: rs10036748
rs10036748
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.830 1.000 6 2009 2017
dbSNP: rs72556554
rs72556554
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.730 1.000 6 2007 2013
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.050 0.800 5 2009 2016
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.810 1.000 5 2008 2017
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.050 1.000 5 2010 2018
dbSNP: rs1059702
rs1059702
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.730 1.000 4 2011 2016
dbSNP: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.040 1.000 4 2007 2019
dbSNP: rs1308699981
rs1308699981
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.040 1.000 4 2002 2010
dbSNP: rs17849502
rs17849502
5 0.827 0.240 1 183563445 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 3.4E-02 0.720 1.000 4 2012 2019
dbSNP: rs201802880
rs201802880
4 0.882 0.200 7 74779296 missense variant G/A snv 1.1E-03 0.040 1.000 4 2017 2020
dbSNP: rs2431098
rs2431098
5 0.827 0.240 5 160460329 intron variant A/G;T snv 0.700 1.000 4 2015 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 0.750 4 2004 2016
dbSNP: rs560051377
rs560051377
5 0.851 0.320 1 161624624 missense variant G/A;C snv 4.0E-06; 2.8E-05 0.040 1.000 4 2002 2010
dbSNP: rs6590330
rs6590330
5 0.851 0.280 11 128441164 intergenic variant G/A;T snv 0.820 1.000 4 2009 2015
dbSNP: rs7579944
rs7579944
5 0.882 0.200 2 30222160 intergenic variant T/C;G snv 0.720 1.000 4 2013 2017
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.040 0.750 4 2014 2019
dbSNP: rs10239340
rs10239340
1 1.000 0.080 7 129028456 intron variant T/A;G snv 0.700 1.000 3 2008 2014
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2008 2017
dbSNP: rs1053874
rs1053874
7 0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 0.030 0.667 3 2004 2013