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: rs7063116
rs7063116
2 0.925 0.120 X 50492002 intergenic variant G/A snv 0.39 0.030 1.000 3 2011 2019
dbSNP: rs6499755
rs6499755
2 0.925 0.120 16 55307223 intron variant T/C snv 0.30 0.710 1.000 2 2014 2019
dbSNP: rs13124827
rs13124827
1 1.000 0.120 4 156419058 intergenic variant C/T snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs17208368
rs17208368
1 1.000 0.120 16 55038095 intergenic variant C/A snv 0.14 0.700 1.000 1 2014 2014
dbSNP: rs2069521
rs2069521
4 0.851 0.240 15 74746626 upstream gene variant G/A snv 4.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs2278705
rs2278705
3 0.882 0.160 15 80402288 intron variant C/T snv 4.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs417096
rs417096
1 1.000 0.120 6 39760057 intergenic variant G/A;C snv 0.53 0.700 1.000 1 2014 2014
dbSNP: rs4563609
rs4563609
1 1.000 0.120 5 158490267 intron variant G/A snv 0.73 0.700 1.000 1 2014 2014
dbSNP: rs5915254
rs5915254
2 0.925 0.120 X 50501281 intergenic variant G/A snv 0.54 0.010 1.000 1 2019 2019
dbSNP: rs5919436
rs5919436
2 0.925 0.120 X 67804478 intergenic variant C/G snv 4.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs6785358
rs6785358
4 0.882 0.200 3 30602723 upstream gene variant G/A snv 0.84 0.010 1.000 1 2017 2017
dbSNP: rs7058226
rs7058226
2 0.925 0.120 X 50483867 intergenic variant G/A snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs7811653
rs7811653
1 1.000 0.120 7 46362671 intergenic variant C/A snv 5.8E-02 0.700 1.000 1 2014 2014
dbSNP: rs8045253
rs8045253
1 1.000 0.120 16 86404161 regulatory region variant T/C snv 0.33 0.700 1.000 1 2014 2014
dbSNP: rs988958
rs988958
1 1.000 0.120 2 42060166 downstream gene variant G/A snv 0.25 0.700 1.000 1 2014 2014
dbSNP: rs17747401
rs17747401
ADK
1 1.000 0.120 10 74640406 intron variant C/T snv 0.27 0.700 1.000 1 2014 2014
dbSNP: rs3757824
rs3757824
3 0.882 0.160 7 17296411 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs137852569
rs137852569
AR
10 0.752 0.320 X 67686030 missense variant G/A snv 9.4E-06 0.010 1.000 1 2019 2019
dbSNP: rs5000770
rs5000770
3 0.882 0.160 15 80424141 intron variant G/A snv 0.27 0.020 1.000 2 2012 2012
dbSNP: rs1020397
rs1020397
3 0.882 0.160 15 80426396 intron variant G/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1365908231
rs1365908231
2 0.925 0.120 1 212619442 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs17262815
rs17262815
1 1.000 0.120 8 129478919 intron variant T/C snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs143136847
rs143136847
1 1.000 0.120 12 82354560 missense variant T/C;G snv 2.6E-05; 2.8E-03 0.700 1.000 1 2014 2014
dbSNP: rs1377148066
rs1377148066
3 0.882 0.120 15 74339259 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs4919686
rs4919686
4 0.851 0.200 10 102832492 3 prime UTR variant A/C snv 0.23 0.21 0.020 1.000 2 2012 2019