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: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1805329
rs1805329
15 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1805377
rs1805377
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.010 1.000 1 2014 2014
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs20575
rs20575
29 0.645 0.440 8 23201811 missense variant C/G snv 0.54 0.44 0.010 1.000 1 2017 2017
dbSNP: rs2228479
rs2228479
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs2308327
rs2308327
10 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs2621416
rs2621416
4 0.882 0.280 6 32774091 intergenic variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs2682818
rs2682818
14 0.742 0.320 12 80935757 non coding transcript exon variant A/C;T snv 0.83 0.010 1.000 1 2014 2014
dbSNP: rs2855429
rs2855429
2 0.925 0.120 6 33190412 intron variant A/C snv 0.78 0.010 1.000 1 2011 2011
dbSNP: rs2857597
rs2857597
3 0.882 0.200 6 31617223 upstream gene variant T/A snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs3020314
rs3020314
7 0.790 0.280 6 151949537 intron variant C/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs3115667
rs3115667
3 0.882 0.200 6 31675622 downstream gene variant T/A;C snv 0.74 0.010 1.000 1 2011 2011
dbSNP: rs3212961
rs3212961
7 0.827 0.200 19 45419065 intron variant G/A;T snv 1.9E-04; 0.20 0.010 1.000 1 2014 2014
dbSNP: rs372411058
rs372411058
1 1.000 0.120 1 161626395 synonymous variant C/T snv 2.0E-05 4.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs3789068
rs3789068
2 0.925 0.120 2 111151670 intron variant A/G snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs4760655
rs4760655
VDR
1 1.000 0.120 12 47900348 intron variant G/A snv 0.72 0.010 < 0.001 1 2011 2011
dbSNP: rs4937362
rs4937362
5 0.827 0.240 11 128622844 intron variant T/C snv 0.49 0.010 1.000 1 2014 2014
dbSNP: rs4938573
rs4938573
4 0.851 0.280 11 118871133 regulatory region variant C/T snv 0.79 0.010 1.000 1 2014 2014
dbSNP: rs568408
rs568408
29 0.649 0.600 3 159995680 3 prime UTR variant G/A snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs587781386
rs587781386
3 0.882 0.120 17 7674889 missense variant A/C;G snv 3.2E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs6054706
rs6054706
1 1.000 0.120 20 149223 downstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6444305
rs6444305
LPP
2 0.925 0.120 3 188582114 intron variant G/A;C;T snv 0.010 1.000 1 2014 2014