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: rs56350726
rs56350726
3 0.882 0.080 9 84285454 missense variant T/A;C snv 7.2E-02; 1.2E-05 0.020 1.000 2 2017 2018
dbSNP: rs976306779
rs976306779
AR
8 0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06 0.020 1.000 2 2005 2008
dbSNP: rs10993994
rs10993994
15 0.763 0.280 10 46046326 5 prime UTR variant A/G snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs12030724
rs12030724
2 0.925 0.080 1 42694347 intron variant A/T snv 8.9E-02 0.010 1.000 1 2016 2016
dbSNP: rs1374051619
rs1374051619
5 0.827 0.080 17 12995026 missense variant C/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1870050
rs1870050
5 0.827 0.160 15 51344354 intron variant A/C snv 6.0E-02 0.010 1.000 1 2019 2019
dbSNP: rs2011077
rs2011077
8 0.807 0.080 5 177094455 intron variant C/T snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs2208532
rs2208532
3 0.882 0.080 2 31563919 intron variant G/A snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs28934578
rs28934578
47 0.605 0.600 17 7675088 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs41341748
rs41341748
6 0.827 0.120 8 16155085 stop gained G/A;C snv 8.3E-03; 2.8E-05 0.010 1.000 1 2006 2006
dbSNP: rs4242382
rs4242382
9 0.763 0.240 8 127505328 intergenic variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs523349
rs523349
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.010 1.000 1 2015 2015
dbSNP: rs544190
rs544190
4 0.851 0.080 9 76763591 intron variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs6259
rs6259
27 0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs627928
rs627928
10 0.790 0.080 1 182582202 missense variant A/C snv 0.54 0.49 0.010 1.000 1 2006 2006
dbSNP: rs676033
rs676033
3 0.882 0.080 2 31583901 upstream gene variant T/C snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs6983267
rs6983267
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs765521022
rs765521022
4 0.851 0.080 19 50858171 missense variant T/C snv 0.010 1.000 1 2005 2005