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: rs10239799
rs10239799
1 1.000 0.040 7 120765281 intergenic variant C/T snv 0.37 0.700 1.000 1 2013 2013
dbSNP: rs10489525
rs10489525
1 1.000 0.040 1 114721064 intron variant G/A snv 0.32 0.800 1.000 1 2014 2014
dbSNP: rs10498676
rs10498676
3 0.925 0.040 6 11026766 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs10500171
rs10500171
1 1.000 0.040 7 147183313 intron variant A/G snv 0.52 0.010 1.000 1 2010 2010
dbSNP: rs10513025
rs10513025
1 1.000 0.040 5 9623510 non coding transcript exon variant T/C snv 5.4E-02 0.800 1.000 1 2009 2009
dbSNP: rs1051312
rs1051312
5 0.827 0.120 20 10306440 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1053972
rs1053972
1 1.000 0.040 19 50855373 3 prime UTR variant C/T snv 0.24 0.010 1.000 1 2016 2016
dbSNP: rs1064794245
rs1064794245
1 1.000 0.040 22 40349918 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs10732392
rs10732392
1 1.000 0.040 9 126633758 intron variant A/G snv 0.84 0.010 1.000 1 2011 2011
dbSNP: rs10749886
rs10749886
1 1.000 0.040 11 107129809 intergenic variant G/A snv 0.35 0.700 1.000 1 2012 2012
dbSNP: rs10858047
rs10858047
1 1.000 0.040 1 114531255 upstream gene variant T/C snv 0.13 0.700 1.000 1 2014 2014
dbSNP: rs10877969
rs10877969
6 0.882 0.120 12 63153459 intron variant T/C snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs10904487
rs10904487
1 1.000 0.040 10 5382502 intergenic variant C/T snv 0.64 0.700 1.000 1 2012 2012
dbSNP: rs10942147
rs10942147
1 1.000 0.040 5 25910820 non coding transcript exon variant G/A snv 0.27 0.700 1.000 1 2009 2009
dbSNP: rs11102800
rs11102800
2 1.000 0.040 1 114498310 intron variant C/T snv 0.58 0.800 1.000 1 2014 2014
dbSNP: rs11102807
rs11102807
1 1.000 0.040 1 114518963 intergenic variant A/G snv 0.44 0.800 1.000 1 2014 2014
dbSNP: rs11118968
rs11118968
1 1.000 0.040 1 206524916 intron variant G/A snv 7.5E-02 0.700 1.000 1 2012 2012
dbSNP: rs11179000
rs11179000
2 0.925 0.040 12 71944848 intron variant A/T snv 0.31 0.010 < 0.001 1 2006 2006
dbSNP: rs1119032
rs1119032
1 1.000 0.040 5 140902846 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs11191454
rs11191454
9 0.776 0.160 10 102900247 intron variant A/G snv 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs11191580
rs11191580
13 0.827 0.040 10 103146454 intron variant T/C snv 7.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs11211996
rs11211996
1 1.000 0.040 11 106987949 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs1135402760
rs1135402760
6 0.851 0.160 11 1451405 frameshift variant AG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 1.000 1 2018 2018
dbSNP: rs11582563
rs11582563
1 1.000 0.040 1 114416918 intron variant G/A snv 0.14 0.800 1.000 1 2014 2014