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: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.050 0.800 5 1999 2015
dbSNP: rs773641005
rs773641005
14 0.742 0.240 16 58723829 missense variant T/C snv 0.030 1.000 3 1999 2015
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.020 1.000 2 2000 2000
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.020 0.500 2 2002 2016
dbSNP: rs137852912
rs137852912
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.020 1.000 2 2006 2018
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2001 2014
dbSNP: rs3135506
rs3135506
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.020 1.000 2 2008 2015
dbSNP: rs599839
rs599839
27 0.724 0.360 1 109279544 downstream gene variant G/A;C snv 0.020 1.000 2 2011 2013
dbSNP: rs80356814
rs80356814
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.020 0.500 2 2002 2005
dbSNP: rs879922
rs879922
4 0.882 0.160 X 15572684 intron variant C/G snv 0.020 1.000 2 2018 2018
dbSNP: rs1012657750
rs1012657750
2 1 151368294 missense variant G/C snv 0.010 1.000 1 2020 2020
dbSNP: rs1042031
rs1042031
11 0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1057519655
rs1057519655
2 1.000 0.080 19 11105516 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs11774572
rs11774572
2 1.000 0.040 8 11589291 regulatory region variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1211098985
rs1211098985
3 1.000 0.040 5 7878128 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs12363280
rs12363280
1 11 231980 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1265538677
rs1265538677
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs12953258
rs12953258
2 1.000 0.080 17 78360015 5 prime UTR variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs13266634
rs13266634
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1337503417
rs1337503417
12 0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.010 1.000 1 2003 2003
dbSNP: rs17465637
rs17465637
11 0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1746661
rs1746661
3 0.925 0.080 1 32869438 intron variant G/A;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs1800588
rs1800588
16 0.790 0.200 15 58431476 intron variant C/G;T snv 0.30 0.010 1.000 1 2014 2014