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: rs5030737
rs5030737
11 0.752 0.360 10 52771482 missense variant G/A snv 5.6E-02 5.0E-02 0.020 1.000 2 2019 2019
dbSNP: rs7095891
rs7095891
3 0.882 0.120 10 52771701 upstream gene variant G/A snv 0.30 0.020 1.000 2 2019 2019
dbSNP: rs1010
rs1010
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs10759932
rs10759932
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs10841845
rs10841845
2 0.925 0.200 12 8533837 3 prime UTR variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs10841847
rs10841847
1 1.000 0.080 12 8535216 intron variant A/G snv 0.58 0.010 1.000 1 2019 2019
dbSNP: rs15493
rs15493
1 1.000 0.080 14 67651415 missense variant C/G;T snv 9.2E-02 8.8E-02 0.010 1.000 1 2019 2019
dbSNP: rs1927906
rs1927906
1 1.000 0.080 9 117717837 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs2367707
rs2367707
2 0.925 0.080 4 74382717 synonymous variant A/G snv 0.79 0.79 0.010 1.000 1 2019 2019
dbSNP: rs2737190
rs2737190
6 0.827 0.120 9 117701903 upstream gene variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs4988453
rs4988453
4 0.851 0.200 3 38137763 upstream gene variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs549908
rs549908
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.010 1.000 1 2019 2019
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2019 2019
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.010 1.000 1 2019 2019
dbSNP: rs1518111
rs1518111
9 0.790 0.360 1 206771300 intron variant T/C snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs1554286
rs1554286
7 0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72 0.010 1.000 1 2018 2018
dbSNP: rs2069837
rs2069837
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs2280789
rs2280789
3 0.925 0.080 17 35879999 intron variant A/G snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs3021094
rs3021094
8 0.827 0.360 1 206771607 intron variant T/G snv 8.0E-02 0.010 1.000 1 2018 2018
dbSNP: rs3024490
rs3024490
11 0.742 0.520 1 206771966 intron variant A/C;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs352140
rs352140
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.010 1.000 1 2018 2018
dbSNP: rs3774275
rs3774275
1 1.000 0.080 3 187247480 intron variant A/G snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs3790622
rs3790622
3 0.882 0.320 1 206771818 intron variant G/A snv 1.5E-03 0.010 1.000 1 2018 2018
dbSNP: rs56061981
rs56061981
5 0.851 0.120 4 76023632 intron variant C/T snv 7.6E-02 0.010 1.000 1 2018 2018