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: rs1014290
rs1014290
6 0.827 0.280 4 10000237 intron variant G/A snv 0.72 0.010 1.000 1 2010 2010
dbSNP: rs1042138
rs1042138
3 0.882 0.120 7 93426338 3 prime UTR variant G/A snv 0.15 0.11 0.010 < 0.001 1 2017 2017
dbSNP: rs10509291
rs10509291
6 0.827 0.280 10 67875446 downstream gene variant T/A snv 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs114234874
rs114234874
3 0.882 0.200 2 70959974 missense variant G/A snv 3.0E-02 2.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs1168879812
rs1168879812
2 0.925 0.120 1 21577539 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1170155
rs1170155
2 0.925 0.120 13 42128575 intron variant C/T snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs12313273
rs12313273
4 0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs13140012
rs13140012
6 0.827 0.320 4 186544404 intron variant T/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs1373464667
rs1373464667
2 0.925 0.120 9 137232889 missense variant C/G;T snv 4.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs1467568
rs1467568
8 0.776 0.320 10 67915401 intron variant A/G snv 0.46 0.010 1.000 1 2019 2019
dbSNP: rs151340624
rs151340624
4 0.851 0.120 X 50090846 stop gained C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs151340627
rs151340627
3 0.882 0.160 X 50086551 stop gained G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs16260
rs16260
19 0.716 0.440 16 68737131 upstream gene variant C/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs17251221
rs17251221
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.010 < 0.001 1 2011 2011
dbSNP: rs17576
rs17576
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.010 1.000 1 2018 2018
dbSNP: rs17646069
rs17646069
2 0.925 0.120 13 42229127 missense variant T/C snv 4.5E-02 2.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2019 2019
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.010 1.000 1 2018 2018
dbSNP: rs1801726
rs1801726
13 0.732 0.280 3 122284985 missense variant G/C snv 0.95 0.92 0.010 1.000 1 2007 2007
dbSNP: rs182089527
rs182089527
3 0.925 0.120 2 182241913 start lost A/C snv 1.5E-03 5.3E-04 0.010 1.000 1 2017 2017
dbSNP: rs184187143
rs184187143
4 0.882 0.200 3 48628699 missense variant C/A;G snv 1.8E-03 1.6E-03 0.010 1.000 1 2016 2016
dbSNP: rs199690076
rs199690076
3 0.882 0.240 9 137233223 missense variant C/G;T snv 4.4E-04 0.010 1.000 1 2019 2019
dbSNP: rs2098435
rs2098435
2 0.925 0.120 12 14851655 intron variant G/A snv 0.44 0.010 1.000 1 2018 2018
dbSNP: rs219778
rs219778
3 0.925 0.120 21 36462343 intron variant A/G snv 0.31 0.010 1.000 1 2015 2015