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: rs13170556
rs13170556
2 0.925 0.120 5 157095577 intron variant T/C snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1439490
rs1439490
3 0.882 0.120 22 21351147 upstream gene variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs17047200
rs17047200
5 0.827 0.200 4 166008836 intron variant A/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs179008
rs179008
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2018 2018
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2005 2005
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs2229113
rs2229113
10 0.763 0.360 11 117998955 missense variant A/G snv 0.74 0.74 0.010 1.000 1 2005 2005
dbSNP: rs2230201
rs2230201
C3
3 0.882 0.200 19 6713280 synonymous variant C/G;T snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs2287622
rs2287622
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs2596542
rs2596542
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs26312
rs26312
2 0.925 0.080 3 10291174 5 prime UTR variant G/A snv 0.16 0.010 < 0.001 1 2018 2018
dbSNP: rs2645424
rs2645424
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs27647
rs27647
2 0.925 0.120 3 10290784 5 prime UTR variant C/T snv 0.67 0.010 < 0.001 1 2018 2018
dbSNP: rs3135363
rs3135363
8 0.776 0.360 6 32421871 intergenic variant A/G snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs3135932
rs3135932
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2005 2005
dbSNP: rs371708541
rs371708541
1 1.000 0.040 19 39244796 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs3747517
rs3747517
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2019 2019
dbSNP: rs3764879
rs3764879
6 0.807 0.320 X 12906578 intron variant C/G snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs3764880
rs3764880
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.010 1.000 1 2018 2018
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 2018 2018
dbSNP: rs3782287
rs3782287
1 1.000 0.040 12 124804719 intron variant G/A snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs3810560
rs3810560
1 1.000 0.040 20 3227173 downstream gene variant T/C snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs3853839
rs3853839
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3921
rs3921
8 0.807 0.240 4 76021790 3 prime UTR variant C/G snv 0.61 0.010 1.000 1 2018 2018
dbSNP: rs4794067
rs4794067
7 0.807 0.280 17 47731462 upstream gene variant T/A;C snv 0.25 0.010 1.000 1 2015 2015