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: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.040 0.750 4 2016 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 0.750 4 2007 2016
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.030 1.000 3 2014 2019
dbSNP: rs1050501
rs1050501
15 0.732 0.440 1 161674008 missense variant T/C snv 0.16 0.19 0.020 0.500 2 2016 2019
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2015 2019
dbSNP: rs148704956
rs148704956
19 0.716 0.360 6 52187772 missense variant A/G snv 8.0E-06 7.0E-06 0.020 1.000 2 2012 2015
dbSNP: rs1800470
rs1800470
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2013 2014
dbSNP: rs1800587
rs1800587
43 0.620 0.720 2 112785383 upstream gene variant G/A;C snv 0.32 0.020 1.000 2 2018 2019
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.020 1.000 2 2018 2019
dbSNP: rs1801274
rs1801274
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.020 1.000 2 2016 2019
dbSNP: rs1801275
rs1801275
58 0.581 0.680 16 27363079 missense variant A/G snv 0.25 0.36 0.020 < 0.001 2 2005 2011
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.020 1.000 2 2015 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.020 0.500 2 2015 2019
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 0.500 2 2007 2007
dbSNP: rs1027009063
rs1027009063
2 0.925 0.040 2 8802974 stop gained G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs10404453
rs10404453
1 1.000 0.040 19 51693235 non coding transcript exon variant G/A;C snv 2.6E-03; 5.5E-06 0.010 1.000 1 2017 2017
dbSNP: rs1041163
rs1041163
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1058885
rs1058885
2 0.925 0.080 1 109923844 missense variant T/C snv 0.38 0.39 0.010 1.000 1 2014 2014
dbSNP: rs11112872
rs11112872
1 1.000 0.040 12 106111556 intron variant T/G snv 0.28 0.010 < 0.001 1 2013 2013
dbSNP: rs11225395
rs11225395
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs113420705
rs113420705
4 0.925 0.160 4 184649399 5 prime UTR variant T/C snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs11362
rs11362
13 0.742 0.360 8 6877877 5 prime UTR variant C/T snv 0.43 0.40 0.010 < 0.001 1 2019 2019
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs11614913
rs11614913
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 1.000 1 2017 2017
dbSNP: rs1171989978
rs1171989978
1 1.000 0.040 1 202159420 missense variant G/A snv 4.0E-06 0.010 1.000 1 2017 2017