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: rs1473418
rs1473418
2 1.000 0.080 18 63319316 5 prime UTR variant C/G snv 0.98 0.010 1.000 1 2015 2015
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs2227310
rs2227310
9 0.807 0.160 10 113729393 missense variant C/G snv 0.26 0.23 0.010 1.000 1 2015 2015
dbSNP: rs2238135
rs2238135
VDR
4 0.882 0.160 12 47884407 intron variant C/G snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs72696119
rs72696119
3 0.925 0.120 4 102501347 5 prime UTR variant C/G snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs7834169
rs7834169
3 0.925 0.120 8 27052774 upstream gene variant C/G snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs16914640
rs16914640
2 1.000 0.120 12 9669791 missense variant C/G;T snv 0.14; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2228387
rs2228387
5 0.851 0.160 11 111911560 synonymous variant C/G;T snv 1.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2014 2014
dbSNP: rs678653
rs678653
5 0.925 0.120 11 69651969 3 prime UTR variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.030 1.000 3 2012 2013
dbSNP: rs243865
rs243865
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.020 1.000 2 2017 2018
dbSNP: rs10090787
rs10090787
3 1.000 0.080 8 120798309 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs10462706
rs10462706
6 0.827 0.080 5 1343679 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs11545028
rs11545028
3 1.000 0.080 16 78099774 5 prime UTR variant C/T snv 0.30 0.28 0.010 1.000 1 2016 2016
dbSNP: rs11685387
rs11685387
9 0.776 0.240 2 216109091 splice region variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 < 0.001 1 2010 2010
dbSNP: rs1373756
rs1373756
2 1.000 0.120 18 52259936 intergenic variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1800870
rs1800870
5 0.851 0.200 17 19649164 intron variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs2031920
rs2031920
20 0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2015 2015