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: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.090 1.000 9 2005 2017
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.060 1.000 6 2004 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2017 2019
dbSNP: rs7096206
rs7096206
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.020 0.500 2 2014 2019
dbSNP: rs1010
rs1010
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs10759931
rs10759931
9 0.790 0.360 9 117701869 upstream gene variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1136452
rs1136452
2 0.925 0.120 10 79612410 missense variant C/A;G;T snv 4.0E-06; 7.0E-03; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs12596308
rs12596308
2 0.925 0.120 16 29679875 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1372834938
rs1372834938
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2003 2003
dbSNP: rs1554286
rs1554286
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.010 1.000 1 2018 2018
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1800870
rs1800870
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1893352
rs1893352
1 1.000 0.080 11 126290792 intron variant A/C;G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2011839
rs2011839
1 1.000 0.080 2 118985008 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2069705
rs2069705
19 0.695 0.440 12 68161231 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs2069837
rs2069837
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2018 2018
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: rs2278589
rs2278589
1 1.000 0.080 2 118971300 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2393799
rs2393799
3 0.882 0.200 12 121132209 upstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2522137
rs2522137
7 0.827 0.120 12 120342128 3 prime UTR variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2726600
rs2726600
TOX
1 1.000 0.080 8 58808045 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3024490
rs3024490
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2018 2018
dbSNP: rs3809849
rs3809849
3 0.882 0.120 17 4555303 missense variant G/C;T snv 0.21; 3.1E-05 0.010 < 0.001 1 2016 2016