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: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs11568821
rs11568821
10 0.827 0.200 2 241851760 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs17114808
rs17114808
2 0.925 0.040 10 102631528 3 prime UTR variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs4693608
rs4693608
6 0.827 0.200 4 83320204 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs748843032
rs748843032
8 0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs36084323
rs36084323
8 0.807 0.280 2 241859444 upstream gene variant C/T snv 5.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs17114803
rs17114803
1 1.000 0.040 10 102627177 splice region variant T/C snv 0.16 0.15 0.010 1.000 1 2015 2015
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs987870
rs987870
4 0.851 0.160 6 33075103 intron variant A/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11545566
rs11545566
3 0.882 0.080 1 179293868 5 prime UTR variant G/A snv 0.24 0.010 1.000 1 2020 2020
dbSNP: rs2056626
rs2056626
5 0.882 0.080 1 167451188 intron variant T/G snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs12953
rs12953
9 0.763 0.200 17 64356203 missense variant C/A;T snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs9277534
rs9277534
7 0.790 0.280 6 33087030 3 prime UTR variant A/G snv 0.38 0.020 0.500 2 2015 2018
dbSNP: rs2278293
rs2278293
3 0.882 0.040 7 128400698 non coding transcript exon variant C/T snv 0.47 0.010 < 0.001 1 2018 2018
dbSNP: rs7588571
rs7588571
3 0.882 0.040 2 79161461 intron variant G/A snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs4845618
rs4845618
5 0.851 0.160 1 154427539 intron variant G/T snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2017 2017
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2018 2018