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: rs7762544
rs7762544
3 0.882 0.040 6 41411577 intergenic variant G/A snv 0.81 0.010 1.000 1 2013 2013
dbSNP: rs9533156
rs9533156
8 0.807 0.280 13 42573535 intron variant T/C snv 0.47 0.010 1.000 1 2013 2013
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: 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: rs2297706
rs2297706
1 1.000 0.040 1 109914244 intron variant C/A;T snv 0.22 0.25 0.010 1.000 1 2014 2014
dbSNP: rs333967
rs333967
1 1.000 0.040 1 109917151 intron variant C/T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs6596473
rs6596473
7 0.807 0.120 5 139374887 intron variant G/C;T snv 0.010 < 0.001 1 2014 2014
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: 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: 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: rs1342913
rs1342913
4 0.851 0.040 1 190151895 intron variant G/A snv 0.61 0.010 1.000 1 2015 2015
dbSNP: rs1800972
rs1800972
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.010 1.000 1 2015 2015
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs35068180
rs35068180
5 0.851 0.040 11 102845217 upstream gene variant A/-;AA delins 0.010 1.000 1 2015 2015
dbSNP: rs4647602
rs4647602
4 0.925 0.120 4 184648647 intron variant G/T snv 9.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2015 2015
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.010 1.000 1 2015 2015
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: 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: 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: rs1041163
rs1041163
3 0.882 0.160 1 100718269 upstream gene variant T/C snv 0.18 0.010 1.000 1 2016 2016