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: rs8321
rs8321
16 0.742 0.320 6 30064745 3 prime UTR variant A/C snv 5.4E-02 5.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs1015164
rs1015164
8 0.925 3 46410189 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs8177832
rs8177832
5 0.851 0.160 22 39081561 missense variant A/G snv 5.9E-02 0.14 0.040 1.000 4 2008 2018
dbSNP: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2015 2015
dbSNP: rs17691394
rs17691394
5 0.925 7 126684537 intron variant A/G snv 0.13 0.700 1.000 1 2010 2010
dbSNP: rs1799937
rs1799937
WT1
3 0.882 0.160 11 32389228 intron variant A/G snv 0.35 0.35 0.010 1.000 1 2005 2005
dbSNP: rs2074560
rs2074560
MX2
2 0.925 0.040 21 41380411 intron variant A/G snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs2229116
rs2229116
9 0.827 0.080 15 33613209 missense variant A/G snv 0.23 0.21 0.700 1.000 1 2010 2010
dbSNP: rs2301254
rs2301254
3 0.882 0.160 11 32436129 intron variant A/G snv 0.48 0.010 1.000 1 2005 2005
dbSNP: rs35897606
rs35897606
6 0.882 0.080 11 33436311 intron variant A/G snv 4.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs61550741
rs61550741
5 0.925 21 31133966 intron variant A/G snv 0.12 0.700 1.000 1 2015 2015
dbSNP: rs6542826
rs6542826
5 0.925 2 109433263 intron variant A/G snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs7117111
rs7117111
1 1.000 11 108046360 synonymous variant A/G snv 0.68 0.59 0.010 1.000 1 2017 2017
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs11212495
rs11212495
1 1.000 11 108048172 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1291142
rs1291142
1 1.000 20 36896959 intron variant A/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs6850
rs6850
9 0.790 0.160 7 44796715 5 prime UTR variant A/G;T snv 0.26; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs608114
rs608114
5 0.925 6 95928822 intron variant A/T snv 0.95 0.700 1.000 1 2015 2015
dbSNP: rs6723162
rs6723162
5 0.925 2 70875156 intergenic variant A/T snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs59440261
rs59440261
5 0.925 6 31403294 intron variant C/A snv 3.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs2294367
rs2294367
1 1.000 22 39083569 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs7576600
rs7576600
5 0.925 2 40840846 intergenic variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2008 2010
dbSNP: rs147879075
rs147879075
1 1.000 3 46373902 stop gained C/A;G;T snv 1.6E-05; 8.2E-06; 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs146215995
rs146215995
1 1.000 11 5679850 missense variant C/A;T snv 8.0E-06; 9.5E-05 0.010 1.000 1 2009 2009