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: rs2073618
rs2073618
19 0.716 0.480 8 118951813 missense variant G/C snv 0.52 0.60 0.030 0.667 3 2014 2018
dbSNP: rs7975232
rs7975232
VDR
56 0.576 0.760 12 47845054 intron variant C/A snv 0.51 0.55 0.030 1.000 3 2015 2019
dbSNP: rs12218
rs12218
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.020 1.000 2 2013 2019
dbSNP: rs1230399
rs1230399
1 1.000 0.080 17 43768035 3 prime UTR variant C/T snv 0.66 0.020 1.000 2 2009 2018
dbSNP: rs12585014
rs12585014
2 1.000 0.080 13 42566423 intron variant G/A snv 0.18 0.020 0.500 2 2018 2019
dbSNP: rs1800544
rs1800544
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.020 1.000 2 2015 2018
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.020 0.500 2 2014 2019
dbSNP: rs1801197
rs1801197
5 0.851 0.240 7 93426441 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2013 2018
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 < 0.001 2 2003 2007
dbSNP: rs2073617
rs2073617
9 0.776 0.360 8 118952044 upstream gene variant G/A snv 0.58 0.020 1.000 2 2015 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 1.000 2 2013 2019
dbSNP: rs2273073
rs2273073
3 0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02 0.020 0.500 2 2006 2008
dbSNP: rs2501431
rs2501431
1 1.000 0.080 1 23875153 synonymous variant G/A snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs3003336
rs3003336
1 1.000 0.080 1 23874958 synonymous variant C/T snv 0.62 0.64 0.020 1.000 2 2015 2019
dbSNP: rs3018362
rs3018362
4 0.882 0.120 18 62414860 upstream gene variant A/G snv 0.67 0.020 0.500 2 2018 2019
dbSNP: rs3102735
rs3102735
12 0.752 0.400 8 118952831 upstream gene variant T/C snv 0.17 0.020 1.000 2 2014 2019
dbSNP: rs3134070
rs3134070
3 0.882 0.200 8 118952785 upstream gene variant C/T snv 9.6E-02 0.020 1.000 2 2015 2017
dbSNP: rs3751143
rs3751143
12 0.742 0.480 12 121184501 missense variant A/C;G snv 0.19; 4.0E-06 0.020 1.000 2 2017 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2012 2015
dbSNP: rs4237
rs4237
1 1.000 0.080 1 23787639 3 prime UTR variant G/A snv 0.64 0.020 0.500 2 2015 2019
dbSNP: rs6426749
rs6426749
3 1.000 0.080 1 22384980 intergenic variant G/C snv 0.19 0.020 1.000 2 2018 2019
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2012 2017
dbSNP: rs10085588
rs10085588
3 1.000 0.080 7 96508362 intron variant A/G snv 0.72 0.010 1.000 1 2019 2019
dbSNP: rs10203122
rs10203122
1 1.000 0.080 2 199831723 intron variant T/C snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1038304
rs1038304
4 0.882 0.160 6 151612040 intron variant A/G snv 0.58 0.010 1.000 1 2011 2011