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: rs3853839
rs3853839
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs5749032
rs5749032
1 1.000 0.080 22 17313079 intergenic variant A/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs2327990
rs2327990
1 1.000 0.080 20 16208618 intron variant T/C snv 0.80 0.700 1.000 1 2019 2019
dbSNP: rs6110524
rs6110524
1 1.000 0.080 20 15130492 intron variant A/G snv 0.88 0.700 1.000 1 2019 2019
dbSNP: rs557806
rs557806
2 1.000 0.080 19 48873985 missense variant G/A;C snv 1.2E-05; 0.20 0.010 1.000 1 2016 2016
dbSNP: rs3861289
rs3861289
1 1.000 0.080 18 43111710 intron variant C/T snv 9.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs1053004
rs1053004
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs12949587
rs12949587
1 1.000 0.080 17 79365094 intron variant C/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs368094521
rs368094521
5 0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04 0.010 1.000 1 2019 2019
dbSNP: rs4239258
rs4239258
1 1.000 0.080 17 7493724 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs879253942
rs879253942
28 0.677 0.400 17 7673826 missense variant A/G snv 0.010 1.000 1 2009 2009
dbSNP: rs17201864
rs17201864
1 1.000 0.080 15 88877743 3 prime UTR variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs7153665
rs7153665
YY1
1 1.000 0.080 14 100264583 intron variant A/G snv 0.63 0.700 1.000 1 2019 2019
dbSNP: rs756055
rs756055
1 1.000 0.080 14 100224841 intron variant A/G snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs9534678
rs9534678
1 1.000 0.080 13 47544647 intergenic variant G/A snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.090 0.889 9 2010 2017
dbSNP: rs121913238
rs121913238
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.030 1.000 3 2013 2017
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.030 1.000 3 2016 2019
dbSNP: rs11574077
rs11574077
VDR
1 1.000 0.080 12 47859144 intron variant T/C snv 3.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs4754687
rs4754687
1 1.000 0.080 11 100559322 intergenic variant A/C snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs1023741
rs1023741
1 1.000 0.080 10 96663139 intron variant T/C snv 0.14 0.700 1.000 1 2019 2019
dbSNP: rs1049550
rs1049550
4 0.882 0.160 10 80166946 missense variant G/A;C snv 0.42; 4.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs1372330
rs1372330
1 1.000 0.080 9 116757309 intron variant G/A snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs2936519
rs2936519
1 1.000 0.080 8 6781719 non coding transcript exon variant G/A snv 0.20 0.700 1.000 1 2015 2015