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: 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: rs35571839
rs35571839
1 1.000 0.120 6 32544836 intergenic variant C/T snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs35998847
rs35998847
1 1.000 0.120 6 32699220 intergenic variant G/A snv 0.14 0.700 1.000 1 2012 2012
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: 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: 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
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: rs735665
rs735665
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs7755224
rs7755224
1 1.000 0.120 6 32684540 regulatory region variant A/G;T snv 0.010 1.000 1 2010 2010
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: rs9268853
rs9268853
10 0.790 0.440 6 32461866 intron variant T/C snv 0.29 0.010 1.000 1 2014 2014
dbSNP: rs9274614
rs9274614
1 1.000 0.120 6 32668069 intron variant C/A;G snv 0.700 1.000 1 2012 2012
dbSNP: rs9275245
rs9275245
2 0.925 0.160 6 32693166 intergenic variant A/G;T snv 0.700 1.000 1 2012 2012
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: rs9275572
rs9275572
15 0.724 0.360 6 32711222 upstream gene variant A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs587776632
rs587776632
2 0.925 0.120 1 85267901 frameshift variant A/-;AAA delins 0.700 0
dbSNP: rs587776633
rs587776633
1 1.000 0.120 1 85270732 frameshift variant -/T delins 0.700 0
dbSNP: rs587776634
rs587776634
1 1.000 0.120 1 85267788 frameshift variant TGCCTACTTCTAGAACA/- del 0.700 0
dbSNP: rs587776635
rs587776635
1 1.000 0.120 1 85267919 frameshift variant T/- delins 0.700 0
dbSNP: rs587776636
rs587776636
1 1.000 0.120 1 85267930 frameshift variant -/A delins 0.700 0