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: rs1801278
rs1801278
38 0.637 0.560 2 226795828 missense variant C/G;T snv 4.0E-06; 5.2E-02 0.100 0.833 18 2001 2017
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.100 0.778 18 2002 2013
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.100 0.727 11 2004 2019
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.100 0.700 10 2001 2017
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.090 0.444 9 2007 2017
dbSNP: rs1805097
rs1805097
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.080 0.875 8 2001 2016
dbSNP: rs1181860747
rs1181860747
10 0.776 0.240 19 7122961 missense variant C/T snv 0.060 1.000 6 2001 2016
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.060 1.000 6 2010 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.050 0.600 5 2015 2019
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.040 0.750 4 2010 2012
dbSNP: rs2059807
rs2059807
7 0.851 0.200 19 7166098 intron variant A/G;T snv 0.830 0.500 4 2011 2020
dbSNP: rs898611
rs898611
1 1.000 0.120 12 56769532 intron variant C/G;T snv 0.040 0.250 4 2006 2015
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.030 0.667 3 2015 2019
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.030 1.000 3 2014 2015
dbSNP: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.030 1.000 3 2013 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2012 2019
dbSNP: rs6471
rs6471
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.030 0.667 3 2000 2011
dbSNP: rs6688832
rs6688832
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.030 1.000 3 2005 2015
dbSNP: rs763351020
rs763351020
35 0.633 0.560 7 101132046 missense variant C/T snv 4.0E-06 0.030 0.667 3 2003 2014
dbSNP: rs11225154
rs11225154
1 1.000 0.120 11 102172509 intron variant G/A;C snv 0.700 1.000 2 2015 2018
dbSNP: rs184752888
rs184752888
4 0.882 0.120 6 32977847 missense variant G/A snv 0.020 1.000 2 2011 2013
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.020 1.000 2 2017 2018
dbSNP: rs5219
rs5219
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.020 < 0.001 2 2007 2008
dbSNP: rs523349
rs523349
21 0.689 0.440 2 31580636 missense variant G/A;C;T snv 0.66; 4.9E-06 0.020 1.000 2 2006 2011
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.020 1.000 2 2017 2018