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: rs11881222
rs11881222
3 0.925 0.080 19 39244283 intron variant A/G snv 0.30 0.060 1.000 6 2011 2015
dbSNP: rs3764880
rs3764880
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.030 1.000 3 2014 2018
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.030 1.000 3 2012 2016
dbSNP: rs10741657
rs10741657
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.020 1.000 2 2013 2019
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2008 2016
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.020 1.000 2 2017 2019
dbSNP: rs4374383
rs4374383
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.710 1.000 2 2012 2018
dbSNP: rs4619915
rs4619915
3 0.882 0.120 4 76034048 3 prime UTR variant A/G snv 0.61 0.020 1.000 2 2014 2015
dbSNP: rs4804803
rs4804803
15 0.732 0.360 19 7747847 upstream gene variant A/G snv 0.26 0.020 1.000 2 2010 2012
dbSNP: rs5930
rs5930
8 0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66 0.020 1.000 2 2009 2015
dbSNP: rs868
rs868
4 0.851 0.160 9 99149374 3 prime UTR variant A/G snv 0.17 0.020 0.500 2 2014 2017
dbSNP: rs1029153
rs1029153
1 1.000 0.080 10 44371698 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2016 2016
dbSNP: rs1049807
rs1049807
1 1.000 0.080 17 36105270 missense variant A/G snv 0.22 0.21 0.010 1.000 1 2018 2018
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs11506105
rs11506105
4 0.851 0.160 7 55152484 intron variant A/G snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs11574129
rs11574129
VDR
3 0.882 0.160 12 47843520 3 prime UTR variant A/G snv 1.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs1297986
rs1297986
2 1.000 0.080 3 107912675 intron variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs1475539937
rs1475539937
5 0.882 0.120 3 52223085 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1484994
rs1484994
1 1.000 0.080 20 31718172 intron variant A/G snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs1634323
rs1634323
3 0.882 0.200 X 12870008 intron variant A/G snv 0.11 0.010 < 0.001 1 2015 2015
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs1799987
rs1799987
10 0.763 0.200 3 46370444 intron variant A/G snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs1800797
rs1800797
43 0.605 0.800 7 22726602 non coding transcript exon variant A/G snv 0.72 0.010 1.000 1 2017 2017
dbSNP: rs1800871
rs1800871
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2016 2016
dbSNP: rs187084
rs187084
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2014 2014