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: rs885036
rs885036
1 1.000 0.080 2 98688331 intron variant A/G snv 0.57 0.700 1.000 1 2015 2015
dbSNP: rs9285673
rs9285673
1 1.000 0.080 5 148793365 regulatory region variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs9534678
rs9534678
1 1.000 0.080 13 47544647 intergenic variant G/A snv 1.4E-02 0.700 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 28 2009 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 28 2009 2019
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 14 2011 2019
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.090 0.889 9 2010 2017
dbSNP: rs909797662
rs909797662
8 0.790 0.120 7 55191837 missense variant G/A snv 0.050 0.800 5 2010 2016
dbSNP: rs121913238
rs121913238
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.030 1.000 3 2013 2017
dbSNP: rs121913254
rs121913254
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.030 1.000 3 2013 2017
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.030 1.000 3 2016 2019
dbSNP: rs144460286
rs144460286
2 0.925 0.080 7 55155922 missense variant A/C snv 4.0E-06 0.020 1.000 2 2016 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs1049550
rs1049550
4 0.882 0.160 10 80166946 missense variant G/A;C snv 0.42; 4.2E-06 0.010 1.000 1 2013 2013
dbSNP: rs1053004
rs1053004
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs111861762
rs111861762
1 1.000 0.080 2 233672556 missense variant C/T snv 1.0E-04 3.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs11574077
rs11574077
VDR
1 1.000 0.080 12 47859144 intron variant T/C snv 3.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs11692021
rs11692021
3 1.000 0.080 2 233682559 missense variant T/C snv 0.35 0.34 0.010 1.000 1 2014 2014
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1800734
rs1800734
30 0.653 0.400 3 36993455 5 prime UTR variant G/A snv 0.22 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: rs1801123
rs1801123
3 0.882 0.120 2 226796327 synonymous variant T/C snv 0.18 0.20 0.010 1.000 1 2017 2017
dbSNP: rs2069837
rs2069837
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2016 2016