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: rs10272724
rs10272724
4 0.882 0.200 7 50409515 downstream gene variant T/C snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1036199
rs1036199
3 0.925 0.160 5 157104725 missense variant C/A snv 0.87 0.83 0.010 1.000 1 2018 2018
dbSNP: rs104895271
rs104895271
6 0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 < 0.001 1 2012 2012
dbSNP: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.010 1.000 1 2018 2018
dbSNP: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1052237
rs1052237
1 6 117694118 stop gained T/C;G snv 8.8E-05 8.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1053874
rs1053874
7 0.851 0.240 16 3657746 missense variant G/A;T snv 0.36; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1059702
rs1059702
7 0.807 0.280 X 154018741 missense variant A/G snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs1059703
rs1059703
6 0.851 0.280 X 154013378 missense variant G/A snv 0.67 0.010 1.000 1 2015 2015
dbSNP: rs10735810
rs10735810
VDR
26 0.662 0.640 12 47879112 start lost A/C;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs10893872
rs10893872
4 0.882 0.120 11 128455658 downstream gene variant T/C snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs10954213
rs10954213
11 0.752 0.200 7 128949373 3 prime UTR variant G/A snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs11204735
rs11204735
2 1.000 0.080 1 150869191 intron variant T/C snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs1126407
rs1126407
3 0.925 0.200 1 236537507 missense variant T/A snv 0.61 0.61 0.010 1.000 1 2012 2012
dbSNP: rs11264799
rs11264799
6 0.851 0.240 1 157700967 upstream gene variant C/T snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1128334
rs1128334
5 0.851 0.160 11 128459064 3 prime UTR variant C/T snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1131017
rs1131017
5 0.925 0.160 12 56042145 5 prime UTR variant C/A;G;T snv 8.0E-06; 8.0E-06; 0.62; 1.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs1132200
rs1132200
3 0.925 0.160 3 119431989 missense variant C/T snv 0.12 0.11 0.010 < 0.001 1 2012 2012
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs11571319
rs11571319
1 2 203874215 downstream gene variant G/A snv 0.17 0.010 1.000 1 2012 2012
dbSNP: rs11594656
rs11594656
9 0.776 0.240 10 6080046 intergenic variant T/A snv 0.18 0.010 1.000 1 2009 2009
dbSNP: rs11711054
rs11711054
2 1.000 0.080 3 46304120 intergenic variant G/A snv 0.73 0.010 1.000 1 2017 2017
dbSNP: rs11805303
rs11805303
6 0.827 0.240 1 67209833 intron variant C/T snv 0.30 0.010 1.000 1 2009 2009
dbSNP: rs1190356035
rs1190356035
4 0.882 0.360 2 170853979 missense variant G/A snv 7.0E-06 0.010 1.000 1 2000 2000