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: rs8192678
rs8192678
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.040 0.750 4 2005 2020
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.020 1.000 2 2012 2020
dbSNP: rs12083537
rs12083537
4 0.882 0.200 1 154408627 intron variant A/G snv 0.22 0.010 1.000 1 2020 2020
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2020 2020
dbSNP: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.100 1.000 16 1996 2019
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 1.000 11 2012 2019
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.080 0.875 8 2011 2019
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.050 0.800 5 2013 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.040 0.500 4 2010 2019
dbSNP: rs2075291
rs2075291
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.720 1.000 3 2008 2019
dbSNP: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.030 1.000 3 2013 2019
dbSNP: rs5186
rs5186
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.030 1.000 3 2007 2019
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.030 1.000 3 2016 2019
dbSNP: rs116843064
rs116843064
16 0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02 0.020 1.000 2 2016 2019
dbSNP: rs12221497
rs12221497
4 0.882 0.160 11 47259102 splice region variant G/A snv 0.11 0.020 1.000 2 2008 2019
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.020 0.500 2 2018 2019
dbSNP: rs174547
rs174547
33 0.742 0.240 11 61803311 intron variant T/C snv 0.28 0.020 1.000 2 2019 2019
dbSNP: rs1800775
rs1800775
18 0.790 0.240 16 56961324 upstream gene variant C/A;G snv 0.51; 5.7E-06 0.020 1.000 2 2017 2019
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.020 1.000 2 2018 2019
dbSNP: rs6688832
rs6688832
10 0.752 0.440 1 9263851 missense variant G/A;C snv 0.28; 1.2E-04 0.020 1.000 2 2011 2019
dbSNP: rs670
rs670
13 0.763 0.360 11 116837697 5 prime UTR variant C/T snv 0.17 0.020 1.000 2 2011 2019
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.020 0.500 2 2018 2019
dbSNP: rs10033652
rs10033652
1 1.000 0.040 4 81571913 intron variant C/T snv 0.62 0.010 1.000 1 2019 2019
dbSNP: rs10484092
rs10484092
2 1.000 0.040 14 51489516 intron variant A/G snv 4.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs10845640
rs10845640
1 1.000 0.040 12 7659861 intron variant C/T snv 0.34 0.010 1.000 1 2019 2019