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: rs1308699981
rs1308699981
7 0.807 0.440 1 161543085 missense variant G/A snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1494555
rs1494555
8 0.790 0.120 5 35871088 missense variant G/A snv 0.64 0.72 0.010 1.000 1 2011 2011
dbSNP: rs17749561
rs17749561
2 0.925 0.120 18 63115978 intergenic variant G/A snv 5.9E-02 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: rs28895103
rs28895103
1 1.000 0.120 6 32451687 intergenic variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs28895171
rs28895171
1 1.000 0.120 6 32455244 downstream gene variant G/A snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs28895187
rs28895187
1 1.000 0.120 6 32456603 downstream gene variant G/A snv 0.13 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: 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: 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: rs735665
rs735665
8 0.776 0.280 11 123490689 intron variant G/A snv 0.15 0.700 1.000 1 2010 2010
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2014 2014
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2015 2016
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.020 1.000 2 2012 2014
dbSNP: rs3117222
rs3117222
3 0.882 0.280 6 33093172 intron variant C/T snv 0.33 0.720 1.000 2 2012 2014
dbSNP: rs13254990
rs13254990
4 0.882 0.120 8 128064205 intron variant C/T snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs1392080411
rs1392080411
5 0.827 0.160 19 16325934 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
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: rs35571839
rs35571839
1 1.000 0.120 6 32544836 intergenic variant C/T snv 0.11 0.700 1.000 1 2012 2012
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: 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: rs12355840
rs12355840
5 0.827 0.240 10 133247608 non coding transcript exon variant C/G;T snv 1.1E-04; 0.80 0.010 1.000 1 2013 2013
dbSNP: rs3020314
rs3020314
7 0.790 0.280 6 151949537 intron variant C/G;T snv 0.010 1.000 1 2008 2008
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: rs1159838942
rs1159838942
1 1.000 0.120 11 36574757 missense variant C/A;T snv 0.010 1.000 1 2012 2012