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: rs1065407
rs1065407
1 1.000 0.200 5 96776379 3 prime UTR variant T/A;G snv 3.3E-05; 0.26 0.010 1.000 1 2015 2015
dbSNP: rs10863888
rs10863888
4 0.851 0.280 1 211329427 intron variant A/C;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs111874856
rs111874856
1 1.000 0.200 18 21028924 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs112108028
rs112108028
1 1.000 0.200 18 20959861 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs112130712
rs112130712
1 1.000 0.200 18 20967783 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs11230563
rs11230563
8 0.790 0.360 11 61008737 missense variant C/G;T snv 4.2E-06; 0.31 0.010 1.000 1 2016 2016
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: 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: rs1327295035
rs1327295035
1 1.000 0.200 6 52187730 missense variant A/G snv 0.010 1.000 1 2008 2008
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: rs1608157
rs1608157
1 1.000 0.200 7 150549936 intergenic variant C/G;T snv 0.710 1.000 1 2013 2013
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: rs1970000
rs1970000
1 1.000 0.200 9 5465036 intron variant C/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.010 1.000 1 2009 2009
dbSNP: rs2075818
rs2075818
1 1.000 0.200 7 30456766 synonymous variant G/A;C;T snv 1.6E-05; 0.28 0.010 1.000 1 2016 2016
dbSNP: rs2227981
rs2227981
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2011 2011
dbSNP: rs2250889
rs2250889
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs2488457
rs2488457
11 0.763 0.480 1 113872746 intron variant G/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs2517411
rs2517411
1 1.000 0.200 6 30992490 downstream gene variant T/C;G snv 0.700 1.000 1 2013 2013