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: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.030 1.000 3 2002 2014
dbSNP: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.020 1.000 2 2010 2012
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 1.000 2 2008 2010
dbSNP: rs368234815
rs368234815
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.020 1.000 2 2015 2016
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs1015164
rs1015164
8 0.925 3 46410189 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1063320
rs1063320
12 0.752 0.360 6 29830972 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs10892324
rs10892324
5 0.925 11 119032329 upstream gene variant T/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs11212495
rs11212495
1 1.000 11 108048172 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs11790131
rs11790131
6 0.882 0.080 9 19469848 intergenic variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1291142
rs1291142
1 1.000 20 36896959 intron variant A/G;T snv 0.010 < 0.001 1 2012 2012
dbSNP: rs139292
rs139292
1 1.000 22 39100318 inframe deletion CAA/- delins 0.010 1.000 1 2016 2016
dbSNP: rs139297
rs139297
1 1.000 22 39101399 missense variant G/A;C;T snv 4.0E-06; 0.47 0.010 1.000 1 2016 2016
dbSNP: rs1406795590
rs1406795590
1 1.000 12 123586856 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs143633948
rs143633948
6 0.882 0.080 6 131504454 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs146215995
rs146215995
1 1.000 11 5679850 missense variant C/A;T snv 8.0E-06; 9.5E-05 0.010 1.000 1 2009 2009
dbSNP: rs147879075
rs147879075
1 1.000 3 46373902 stop gained C/A;G;T snv 1.6E-05; 8.2E-06; 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs16823858
rs16823858
5 0.925 3 115559835 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs17038463
rs17038463
5 0.925 3 1383484 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs17151904
rs17151904
5 0.925 7 25568789 TF binding site variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs17878969
rs17878969
VDR
1 1.000 12 47842624 3 prime UTR variant TTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT delins 0.010 1.000 1 2008 2008
dbSNP: rs184279915
rs184279915
1 1.000 3 46373708 missense variant G/A;T snv 3.2E-05; 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs2294367
rs2294367
1 1.000 22 39083569 intron variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs30388
rs30388
MAF
5 0.925 16 79580219 regulatory region variant T/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs3217318
rs3217318
1 1.000 19 17406018 non coding transcript exon variant GGGGCGGGGCCTGGGTCTG/-;GGGGCGGGGCCTGGGTCTGGGGGCGGGGCCTGGGTCTG delins 0.010 1.000 1 2013 2013