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: rs4331426
rs4331426
2 0.925 0.080 18 22610832 intergenic variant G/A snv 0.86 0.880 0.778 9 2010 2016
dbSNP: rs2430561
rs2430561
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.060 1.000 6 2010 2017
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.050 1.000 5 2011 2020
dbSNP: rs2057178
rs2057178
1 1.000 0.040 11 32342641 intron variant G/A snv 0.18 0.830 0.800 5 2012 2016
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.050 0.600 5 2013 2017
dbSNP: rs10956514
rs10956514
1 1.000 0.040 8 130240512 intron variant A/G snv 0.37 0.040 0.250 4 2015 2018
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.040 1.000 4 2018 2020
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 0.750 4 2015 2020
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.040 0.750 4 2014 2020
dbSNP: rs4733781
rs4733781
1 1.000 0.040 8 130284521 intron variant A/C snv 0.29 0.740 1.000 4 2015 2019
dbSNP: rs4804803
rs4804803
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.040 1.000 4 2008 2014
dbSNP: rs1544410
rs1544410
VDR
78 0.542 0.760 12 47846052 intron variant C/A;G;T snv 0.030 1.000 3 2016 2019
dbSNP: rs1861494
rs1861494
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.030 1.000 3 2015 2019
dbSNP: rs414171
rs414171
9 0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv 0.030 1.000 3 2014 2014
dbSNP: rs5743557
rs5743557
4 0.882 0.160 4 38805206 5 prime UTR variant G/A snv 0.14 0.030 1.000 3 2018 2019
dbSNP: rs7096206
rs7096206
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.030 1.000 3 2014 2018
dbSNP: rs7832767
rs7832767
1 1.000 0.040 8 41302340 intron variant C/T snv 1.0E-01 0.030 1.000 3 2014 2016
dbSNP: rs1495741
rs1495741
9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.710 1.000 2 2016 2019
dbSNP: rs17235416
rs17235416
6 0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02 0.020 1.000 2 2009 2015
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.020 1.000 2 2013 2019
dbSNP: rs1800796
rs1800796
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.020 1.000 2 2012 2018
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2019 2020
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2013 2019
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.020 1.000 2 2019 2020
dbSNP: rs2107538
rs2107538
11 0.763 0.360 17 35880776 5 prime UTR variant C/T snv 0.27 0.020 1.000 2 2011 2013