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: 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 2007 2010
dbSNP: rs10500804
rs10500804
2 0.925 0.040 11 14888727 intron variant T/G snv 0.35 0.010 1.000 1 2016 2016
dbSNP: rs10766197
rs10766197
6 0.807 0.240 11 14900334 upstream gene variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs12212067
rs12212067
20 0.716 0.320 6 108659993 intron variant T/G snv 0.14 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 2016 2016
dbSNP: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs17722851
rs17722851
2 0.925 0.040 17 27783810 intron variant T/A snv 9.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1816702
rs1816702
6 0.827 0.120 4 153688371 non coding transcript exon variant T/C snv 0.79 0.010 1.000 1 2009 2009
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2019 2019
dbSNP: rs2060793
rs2060793
11 0.776 0.240 11 14893764 upstream gene variant A/G snv 0.63 0.010 1.000 1 2016 2016
dbSNP: rs2107538
rs2107538
11 0.763 0.360 17 35880776 5 prime UTR variant C/T snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs2280788
rs2280788
2 0.925 0.040 17 35880401 5 prime UTR variant G/C snv 2.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs3135932
rs3135932
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2012 2012
dbSNP: rs35037722
rs35037722
2 0.925 0.040 17 78355453 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs3731863
rs3731863
2 0.925 0.040 2 218387485 intron variant C/T snv 8.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs3731865
rs3731865
5 0.882 0.160 2 218385280 non coding transcript exon variant G/A;C;T snv 0.23; 1.4E-04 0.010 1.000 1 2009 2009
dbSNP: rs3764880
rs3764880
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.010 1.000 1 2018 2018
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2016 2016
dbSNP: rs4921437
rs4921437
2 0.925 0.040 5 159263943 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs73226617
rs73226617
2 0.925 0.040 3 141681811 intron variant G/A snv 4.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs8064821
rs8064821
6 0.851 0.120 17 78361310 intron variant C/A snv 0.17 0.010 < 0.001 1 2019 2019
dbSNP: rs8073782
rs8073782
2 0.925 0.040 17 27807685 intron variant C/T snv 0.27 0.010 1.000 1 2009 2009