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: rs1049606
rs1049606
4 0.851 0.160 12 4273870 5 prime UTR variant C/T snv 0.58 0.010 < 0.001 1 2010 2010
dbSNP: rs12583006
rs12583006
8 0.807 0.320 13 108285104 intron variant T/A snv 0.21 0.010 < 0.001 1 2017 2017
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1866139
rs1866139
2 1.000 0.080 2 85694266 intron variant G/C snv 0.51 0.010 < 0.001 1 2015 2015
dbSNP: rs2230926
rs2230926
27 0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs2233678
rs2233678
14 0.732 0.360 19 9834503 non coding transcript exon variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs2233682
rs2233682
5 0.827 0.240 19 9838476 synonymous variant G/A snv 3.7E-02 6.3E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs2237062
rs2237062
3 0.882 0.120 5 135576874 intron variant G/C snv 0.26 0.010 < 0.001 1 2012 2012
dbSNP: rs2241883
rs2241883
14 0.763 0.360 2 88124547 missense variant T/C snv 0.30 0.29 0.010 < 0.001 1 2018 2018
dbSNP: rs2284553
rs2284553
9 0.776 0.240 21 33404389 intron variant A/G snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 < 0.001 1 2013 2013
dbSNP: rs3759333
rs3759333
3 0.882 0.120 12 6382781 intron variant C/G;T snv 0.010 < 0.001 1 2017 2017
dbSNP: rs3783553
rs3783553
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 < 0.001 1 2014 2014
dbSNP: rs398652
rs398652
10 0.752 0.240 14 56058851 intergenic variant G/A snv 0.24 0.010 < 0.001 1 2014 2014
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs622502
rs622502
1 1.000 0.080 3 50608362 intron variant C/A;G;T snv 5.1E-04; 0.89 0.010 < 0.001 1 2014 2014
dbSNP: rs6768300
rs6768300
2 0.925 0.120 3 50611939 5 prime UTR variant C/G snv 0.85 0.010 < 0.001 1 2014 2014
dbSNP: rs7095891
rs7095891
3 0.882 0.120 10 52771701 upstream gene variant G/A snv 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs9277534
rs9277534
7 0.790 0.280 6 33087030 3 prime UTR variant A/G snv 0.38 0.710 0.500 2 2013 2018
dbSNP: rs9514828
rs9514828
12 0.752 0.440 13 108269025 intron variant C/T snv 0.35 0.020 0.500 2 2017 2019
dbSNP: rs1053004
rs1053004
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.030 0.667 3 2017 2019
dbSNP: rs12980275
rs12980275
23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.030 0.667 3 2011 2015
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.030 0.667 3 2016 2019
dbSNP: rs3135021
rs3135021
2 0.925 0.080 6 33077781 intron variant G/A snv 0.32 0.710 0.667 3 2009 2016
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.080 0.750 8 2011 2017