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: rs112843513
rs112843513
4 0.851 0.120 3 133600730 3 prime UTR variant G/- del 0.010 1.000 1 2014 2014
dbSNP: rs115160714
rs115160714
9 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 0.010 1.000 1 2014 2014
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: rs1501299
rs1501299
52 0.597 0.720 3 186853334 intron variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1694964
rs1694964
4 0.925 0.080 3 84885341 intron variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2010 2010
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2004 2004
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2004 2004
dbSNP: rs187084
rs187084
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs201768983
rs201768983
2 0.925 0.080 3 195868640 missense variant C/T snv 1.2E-04 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs2677764
rs2677764
2 0.925 0.080 3 179206019 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2699887
rs2699887
11 0.763 0.280 3 179148620 intron variant C/T snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs28930073
rs28930073
5 0.827 0.200 3 37007004 missense variant G/C snv 2.1E-04 1.9E-04 0.010 1.000 1 2005 2005
dbSNP: rs3731127
rs3731127
XPC
2 0.925 0.080 3 14158973 intron variant G/A snv 4.0E-02 0.010 1.000 1 2011 2011
dbSNP: rs397517202
rs397517202
4 0.851 0.320 3 179234230 missense variant A/G snv 0.010 1.000 1 2007 2007
dbSNP: rs6443624
rs6443624
8 0.776 0.200 3 179179886 intron variant C/A snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs746702110
rs746702110
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs9838411
rs9838411
2 0.925 0.080 3 179169899 intron variant G/A snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs7679673
rs7679673
28 0.677 0.440 4 105140377 intron variant C/A snv 0.50 0.010 < 0.001 1 2014 2014
dbSNP: rs1045242
rs1045242
3 0.925 0.080 5 119393632 3 prime UTR variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs11064
rs11064
9 0.807 0.120 5 119393693 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs889312
rs889312
14 0.732 0.360 5 56736057 regulatory region variant C/A snv 0.69 0.010 1.000 1 2008 2008
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2008 2009
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.020 1.000 2 2008 2009