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: rs10934578
rs10934578
4 0.925 0.080 3 122258435 intron variant G/T snv 0.30 0.020 1.000 2 2008 2017
dbSNP: rs2555639
rs2555639
7 0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38 0.020 1.000 2 2013 2020
dbSNP: rs5029748
rs5029748
2 0.925 0.080 8 42283031 intron variant G/T snv 0.22 0.020 1.000 2 2010 2013
dbSNP: rs1017621656
rs1017621656
3 0.925 0.080 19 41352923 missense variant A/C;G snv 1.9E-05 0.010 1.000 1 2001 2001
dbSNP: rs10222633
rs10222633
4 0.925 0.080 3 122258079 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs10450310
rs10450310
2 0.925 0.080 10 52764898 downstream gene variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs1057519822
rs1057519822
3 0.925 0.080 15 66481818 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1060503118
rs1060503118
2 0.925 0.080 7 5987422 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs10958713
rs10958713
2 0.925 0.080 8 42323198 intron variant C/T snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs11536898
rs11536898
3 0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2012 2012
dbSNP: rs11625206
rs11625206
2 0.925 0.080 14 70727436 3 prime UTR variant C/T snv 0.26 0.010 1.000 1 2012 2012
dbSNP: rs11832059
rs11832059
VDR
2 0.925 0.080 12 47879066 missense variant A/C;G snv 4.0E-06; 1.9E-03 0.010 1.000 1 2009 2009
dbSNP: rs11923427
rs11923427
2 0.925 0.080 3 12622336 intron variant C/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs11986055
rs11986055
3 0.882 0.080 8 42277660 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs121913538
rs121913538
3 0.882 0.080 12 25245328 missense variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1238788540
rs1238788540
2 0.925 0.080 7 140800368 missense variant G/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs12485716
rs12485716
2 0.925 0.080 3 122260843 intron variant G/A snv 0.36 0.010 1.000 1 2008 2008
dbSNP: rs12490683
rs12490683
2 0.925 0.080 3 75329934 non coding transcript exon variant G/A snv 0.46 0.010 1.000 1 2018 2018
dbSNP: rs12497343
rs12497343
2 0.925 0.080 3 75330074 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs12527379
rs12527379
1 1.000 0.080 6 131958700 intron variant G/A snv 0.31 0.010 < 0.001 1 2015 2015
dbSNP: rs12591359
rs12591359
4 0.925 0.080 15 51247171 intron variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs1287152741
rs1287152741
2 0.925 0.080 5 80633984 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1289280947
rs1289280947
5 0.851 0.080 9 21974571 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1365611
rs1365611
2 0.925 0.080 4 174462542 intergenic variant C/T snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs1371367785
rs1371367785
1 1.000 0.080 11 70206265 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004