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: rs1800234
rs1800234
6 0.807 0.240 22 46219983 missense variant T/A;C snv 4.0E-06; 1.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800588
rs1800588
16 0.790 0.200 15 58431476 intron variant C/G;T snv 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1800777
rs1800777
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2011 2011
dbSNP: rs2070666
rs2070666
4 0.882 0.120 11 116830958 intron variant T/A;C snv 0.010 1.000 1 2016 2016
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 2018 2018
dbSNP: rs2228603
rs2228603
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs2290602
rs2290602
3 0.882 0.040 4 23824109 intron variant T/A;G snv 0.010 1.000 1 2008 2008
dbSNP: rs2294918
rs2294918
3 0.925 0.040 22 43946236 missense variant A/G snv 0.68 0.70 0.010 1.000 1 2016 2016
dbSNP: rs2862954
rs2862954
2 0.925 0.040 10 100152307 missense variant T/C snv 0.34 0.32 0.010 1.000 1 2013 2013
dbSNP: rs3213445
rs3213445
4 0.851 0.120 22 50577409 missense variant T/C snv 0.12 8.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs3480
rs3480
8 0.807 0.160 1 32862564 3 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs3829251
rs3829251
8 0.851 0.120 11 71483513 intron variant G/A snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs3865188
rs3865188
10 0.790 0.320 16 82617112 intergenic variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4240624
rs4240624
5 0.882 0.040 8 9326721 intron variant G/A snv 0.87 0.010 1.000 1 2013 2013
dbSNP: rs4588
rs4588
GC
53 0.597 0.720 4 71752606 missense variant G/A;T snv 1.6E-05; 0.25 0.010 1.000 1 2018 2018
dbSNP: rs56225452
rs56225452
5 0.851 0.080 19 58513279 upstream gene variant C/T snv 0.18 0.010 1.000 1 2010 2010
dbSNP: rs641738
rs641738
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs6834314
rs6834314
10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs72613567
rs72613567
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2018 2018
dbSNP: rs738491
rs738491
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.010 1.000 1 2015 2015
dbSNP: rs74315468
rs74315468
3 0.882 0.040 22 50626841 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2013 2013