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: rs11792633
rs11792633
5 0.882 0.280 9 6248035 intron variant C/T snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs12119179
rs12119179
2 0.925 0.200 1 67281732 downstream gene variant A/C snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs121908147
rs121908147
7 0.807 0.280 1 247424041 missense variant G/A;C snv 8.3E-03; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs12212193
rs12212193
2 0.925 0.280 6 90287050 intron variant A/G snv 0.38 0.010 < 0.001 1 2015 2015
dbSNP: rs1234313
rs1234313
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1234315
rs1234315
6 0.807 0.400 1 173209324 upstream gene variant C/T snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs12569232
rs12569232
4 0.882 0.280 1 211379722 intron variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12785878
rs12785878
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs12932187
rs12932187
2 0.925 0.320 16 10878023 intron variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1310182
rs1310182
4 0.882 0.360 1 113830881 intron variant A/C;G snv 0.56 0.010 < 0.001 1 2012 2012
dbSNP: rs13154629
rs13154629
1 1.000 0.200 5 96786754 non coding transcript exon variant C/T snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs13210247
rs13210247
3 0.882 0.280 6 111601517 non coding transcript exon variant A/G snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs1327295035
rs1327295035
1 1.000 0.200 6 52187730 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs1342326
rs1342326
9 0.790 0.360 9 6190076 intergenic variant A/C snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1343151
rs1343151
10 0.752 0.400 1 67253446 intron variant G/A snv 0.41 0.010 1.000 1 2012 2012
dbSNP: rs1462891
rs1462891
1 1.000 0.200 8 31973417 intron variant T/C snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs149034313
rs149034313
1 1.000 0.200 22 31278338 missense variant C/G;T snv 6.4E-03; 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs17127024
rs17127024
2 0.925 0.280 1 64837448 intron variant G/T snv 5.1E-02 0.010 1.000 1 2014 2014
dbSNP: rs17445836
rs17445836
5 0.851 0.320 16 85984057 intron variant G/A snv 0.15 0.010 1.000 1 2016 2016
dbSNP: rs17577
rs17577
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs17633132
rs17633132
1 1.000 0.200 8 17642610 splice region variant C/G;T snv 8.0E-06; 0.11 0.010 1.000 1 2013 2013
dbSNP: rs1800779
rs1800779
9 0.763 0.320 7 150992855 intron variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1884444
rs1884444
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 1.000 1 2012 2012