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: rs10495970
rs10495970
5 1.000 2 49264671 intron variant G/A snv 0.26 0.700 1.000 1 2014 2014
dbSNP: rs1159057
rs1159057
1 4 65271097 intergenic variant C/T snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs12137595
rs12137595
5 0.851 0.080 1 4034008 regulatory region variant C/T snv 8.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs13417783
rs13417783
3 0.925 0.120 2 166773339 regulatory region variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs17032980
rs17032980
3 1.000 0.120 2 67075611 intergenic variant A/G snv 0.25 0.700 1.000 1 2015 2015
dbSNP: rs209709
rs209709
1 1 22551320 intergenic variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs4463516
rs4463516
3 1.000 0.120 9 32867483 intron variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs502716
rs502716
5 1.000 20 945754 intergenic variant G/A snv 0.29 0.700 1.000 1 2014 2014
dbSNP: rs6637197
rs6637197
5 1.000 X 144281548 intergenic variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs71597855
rs71597855
7 0.807 0.240 4 53790270 intron variant G/A snv 2.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs7244245
rs7244245
5 1.000 18 8931654 intergenic variant T/C snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs7554182
rs7554182
5 1.000 1 182052148 downstream gene variant C/T snv 8.5E-02 0.700 1.000 1 2014 2014
dbSNP: rs7963521
rs7963521
1 12 73435176 intergenic variant C/T snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs801350
rs801350
5 1.000 2 194682669 intergenic variant G/A snv 0.94 0.700 1.000 1 2014 2014
dbSNP: rs801378
rs801378
5 1.000 2 194695273 intergenic variant A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs9501753
rs9501753
5 1.000 6 221146 intergenic variant G/A snv 2.6E-02 0.700 1.000 1 2014 2014
dbSNP: rs9636436
rs9636436
5 1.000 2 49270867 intron variant G/A snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs587777383
rs587777383
4 0.882 0.040 2 73909130 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs864622269
rs864622269
6 0.851 0.240 14 50628394 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121918312
rs121918312
11 0.776 0.160 10 119672373 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11017056
rs11017056
3 1.000 0.080 10 130032376 intron variant A/C;T snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs730880031
rs730880031
7 0.807 0.160 22 23767438 missense variant C/A;T snv 1.8E-05; 4.4E-06 0.010 1.000 1 2016 2016
dbSNP: rs768947688
rs768947688
1 15 101178712 missense variant A/G snv 1.2E-05 0.010 1.000 1 2013 2013