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: rs10759932
rs10759932
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs11003123
rs11003123
6 0.827 0.200 10 52771774 upstream gene variant G/A snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1554973
rs1554973
3 0.882 0.120 9 117718534 3 prime UTR variant T/C snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs1634323
rs1634323
3 0.882 0.200 X 12870008 intron variant A/G snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs187084
rs187084
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs1898830
rs1898830
10 0.807 0.280 4 153687301 intron variant A/G snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs2231947
rs2231947
1 1.000 0.080 10 70434098 intron variant G/A snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs36014597
rs36014597
2 1.000 0.080 10 52772040 upstream gene variant T/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs3804099
rs3804099
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.010 1.000 1 2016 2016
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs5743737
rs5743737
1 1.000 0.080 X 12872902 intron variant A/G snv 2.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs6517158
rs6517158
1 1.000 0.080 21 33299436 intron variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs749140677
rs749140677
VDR
13 0.752 0.240 12 47857185 missense variant G/A snv 8.0E-06 0.010 1.000 1 2010 2010