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: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.818 11 1999 2018
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.778 9 2002 2012
dbSNP: rs1458766475
rs1458766475
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.060 1.000 6 1999 2012
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.050 1.000 5 2001 2019
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.040 1.000 4 2001 2012
dbSNP: rs4961
rs4961
27 0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20 0.040 1.000 4 2001 2020
dbSNP: rs11556924
rs11556924
21 0.752 0.240 7 130023656 missense variant C/A;T snv 4.0E-06; 0.28 0.030 1.000 3 2013 2019
dbSNP: rs137852912
rs137852912
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.030 1.000 3 2010 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.030 1.000 3 2003 2014
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.030 0.667 3 2008 2010
dbSNP: rs11591147
rs11591147
28 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 1.000 2 2009 2019
dbSNP: rs1264352930
rs1264352930
6 0.807 0.120 11 116836082 missense variant C/A snv 4.2E-06 0.020 1.000 2 2012 2015
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.020 1.000 2 2001 2017
dbSNP: rs1878406
rs1878406
7 0.807 0.200 4 147472512 intergenic variant C/A;G;T snv 0.810 0.500 2 2011 2014
dbSNP: rs2075291
rs2075291
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.020 1.000 2 2009 2018
dbSNP: rs2295490
rs2295490
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.020 1.000 2 2011 2016
dbSNP: rs5882
rs5882
35 0.649 0.400 16 56982180 missense variant G/A;C snv 0.62 0.020 1.000 2 1999 2012
dbSNP: rs749582333
rs749582333
2 0.925 0.040 11 89340157 frameshift variant G/- delins 0.020 1.000 2 2016 2017
dbSNP: rs773641005
rs773641005
14 0.742 0.240 16 58723829 missense variant T/C snv 0.020 1.000 2 2001 2017
dbSNP: rs879254925
rs879254925
8 0.790 0.120 19 11113680 missense variant G/T snv 0.020 1.000 2 2010 2013
dbSNP: rs1008438
rs1008438
6 0.807 0.120 6 31815431 upstream gene variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1010
rs1010
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs1020608562
rs1020608562
9 0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1043618
rs1043618
10 0.752 0.280 6 31815730 5 prime UTR variant G/A;C;T snv 0.39; 2.0E-05; 4.0E-06 0.010 1.000 1 2012 2012
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 2017 2017