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: rs11558492
rs11558492
5 0.827 0.200 1 231272345 missense variant A/G;T snv 0.16 0.010 < 0.001 1 2017 2017
dbSNP: rs1161457931
rs1161457931
9 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014
dbSNP: rs1208663703
rs1208663703
9 0.763 0.200 22 37086414 missense variant T/C snv 5.2E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs12785878
rs12785878
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2014 2014
dbSNP: rs13412852
rs13412852
4 0.851 0.120 2 11774815 intron variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs14158
rs14158
5 0.851 0.160 19 11131368 synonymous variant G/A snv 0.24 0.22 0.010 1.000 1 2013 2013
dbSNP: rs1430059719
rs1430059719
1 1.000 0.080 20 46012456 missense variant G/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs16851720
rs16851720
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs17047200
rs17047200
5 0.827 0.200 4 166008836 intron variant A/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs17886084
rs17886084
2 1.000 0.080 11 102799765 intron variant C/- delins 0.010 1.000 1 2013 2013
dbSNP: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1800730
rs1800730
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2002 2002
dbSNP: rs1800925
rs1800925
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2015 2015
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs2596542
rs2596542
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs267607117
rs267607117
2 0.925 0.080 8 93780747 missense variant G/T snv 0.010 1.000 1 2009 2009
dbSNP: rs28934571
rs28934571
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs3194051
rs3194051
4 0.851 0.200 5 35876172 missense variant A/G snv 0.24 0.28 0.010 1.000 1 2015 2015
dbSNP: rs3480
rs3480
8 0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs3741981
rs3741981
3 0.882 0.120 12 112911065 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs3921
rs3921
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2015 2015