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: rs587776636
rs587776636
1 1.000 0.120 1 85267930 frameshift variant -/A delins 0.700 0
dbSNP: rs587776633
rs587776633
1 1.000 0.120 1 85270732 frameshift variant -/T delins 0.700 0
dbSNP: rs587776632
rs587776632
2 0.925 0.120 1 85267901 frameshift variant A/-;AAA delins 0.700 0
dbSNP: rs6457327
rs6457327
7 0.790 0.320 6 31106253 downstream gene variant A/C snv 0.66 0.750 1.000 5 2009 2014
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.020 1.000 2 2012 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: rs3763313
rs3763313
7 0.807 0.320 6 32408694 upstream gene variant A/C snv 0.21 0.700 1.000 1 2012 2012
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: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2006 2006
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2015 2016
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: rs28530648
rs28530648
1 1.000 0.120 6 32559302 intron variant A/C;T snv 0.700 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2009 2014
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2007 2007
dbSNP: rs172378
rs172378
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.010 1.000 1 2008 2008
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: 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: rs28605404
rs28605404
1 1.000 0.120 6 32601910 intergenic variant A/G snv 0.10 0.700 1.000 1 2012 2012
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: rs6932542
rs6932542
5 0.827 0.200 6 32412485 downstream gene variant A/G snv 0.55 0.700 1.000 1 2011 2011
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 < 0.001 1 2011 2011
dbSNP: rs8094402
rs8094402
MBP
3 0.882 0.120 18 76995493 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs9275517
rs9275517
2 0.925 0.200 6 32706872 non coding transcript exon variant A/G snv 0.58 0.710 < 0.001 1 2012 2012
dbSNP: rs9808753
rs9808753
17 0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18 0.010 1.000 1 2011 2011