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: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2004 2006
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2017 2017
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.010 1.000 1 2018 2018
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2013 2013
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2017 2017
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1799969
rs1799969
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs6822844
rs6822844
20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2011 2011
dbSNP: rs763361
rs763361
21 0.689 0.520 18 69864406 missense variant T/A;C snv 4.0E-06; 0.52 0.700 1.000 1 2013 2013
dbSNP: rs213950
rs213950
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2005 2005
dbSNP: rs3197999
rs3197999
16 0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27 0.720 1.000 4 2011 2013
dbSNP: rs3099844
rs3099844
13 0.732 0.400 6 31481199 non coding transcript exon variant C/A snv 0.11 0.700 1.000 1 2010 2010
dbSNP: rs601338
rs601338
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.020 1.000 2 2012 2014
dbSNP: rs694739
rs694739
9 0.763 0.320 11 64329761 upstream gene variant A/G snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs6840978
rs6840978
10 0.776 0.160 4 122633552 intron variant C/T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs11676348
rs11676348
8 0.790 0.160 2 218145423 regulatory region variant C/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs11168249
rs11168249
9 0.807 0.120 12 47814585 intron variant T/C snv 0.50 0.700 1.000 2 2011 2013
dbSNP: rs13119723
rs13119723
8 0.807 0.280 4 122297158 intron variant A/G snv 0.10 0.710 1.000 2 2011 2012
dbSNP: rs3749171
rs3749171
9 0.807 0.120 2 240630275 missense variant C/T snv 0.16; 9.4E-06 0.19 0.020 1.000 2 2013 2019
dbSNP: rs7426056
rs7426056
6 0.807 0.120 2 203747335 regulatory region variant A/G snv 0.81 0.710 1.000 2 2013 2017
dbSNP: rs11203203
rs11203203
9 0.807 0.240 21 42416077 intron variant G/A snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs12369214
rs12369214
6 0.807 0.120 12 106804833 intron variant G/A snv 0.41 0.700 1.000 1 2013 2013