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: rs11224561
rs11224561
PGR
2 0.925 0.080 11 101034325 3 prime UTR variant C/A;T snv 0.020 1.000 2 2009 2011
dbSNP: rs10502289
rs10502289
2 0.925 0.080 18 676789 intron variant A/T snv 0.15 0.010 1.000 1 2009 2009
dbSNP: rs10733710
rs10733710
2 0.925 0.080 9 99145142 intron variant G/A snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs11196445
rs11196445
2 0.925 0.080 10 113710131 intron variant G/A snv 0.11 0.010 1.000 1 2009 2009
dbSNP: rs1182154114
rs1182154114
2 0.925 0.080 16 28623160 missense variant G/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1337082
rs1337082
2 0.925 0.080 X 67764173 intergenic variant G/A snv 0.61 0.010 1.000 1 2009 2009
dbSNP: rs140296720
rs140296720
2 0.925 0.080 6 30896816 missense variant G/A snv 4.3E-06 0.010 1.000 1 2014 2014
dbSNP: rs1438956733
rs1438956733
2 0.925 0.080 10 121515180 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1740828
rs1740828
2 0.925 0.080 6 21648854 regulatory region variant G/A snv 0.55 0.010 1.000 1 2016 2016
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: rs2298581
rs2298581
2 0.925 0.080 18 677931 intron variant C/G snv 0.22 0.010 1.000 1 2009 2009
dbSNP: rs2298583
rs2298583
2 0.925 0.080 18 677302 intron variant G/A snv 0.34 0.34 0.010 1.000 1 2009 2009
dbSNP: rs2494737
rs2494737
2 0.925 0.080 14 104779988 intron variant T/A snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs2494750
rs2494750
2 0.925 0.080 14 104796575 upstream gene variant G/C snv 0.86 0.010 < 0.001 1 2015 2015
dbSNP: rs2517951
rs2517951
2 0.925 0.080 17 39696844 intron variant C/T snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs2676530
rs2676530
2 0.925 0.080 17 42553937 non coding transcript exon variant C/A;G;T snv 0.25 0.010 1.000 1 2007 2007
dbSNP: rs2677764
rs2677764
2 0.925 0.080 3 179206019 intron variant C/A;T snv 0.010 1.000 1 2011 2011
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: rs3741211
rs3741211
2 0.925 0.080 11 2147880 non coding transcript exon variant A/G snv 0.36 0.010 1.000 1 2011 2011
dbSNP: rs3759216
rs3759216
2 0.925 0.080 12 12715152 intron variant G/A snv 0.38 0.010 1.000 1 2011 2011
dbSNP: rs3768235
rs3768235
2 0.925 0.080 1 85267691 missense variant C/T snv 8.0E-06; 6.5E-02 4.5E-02 0.010 1.000 1 2001 2001
dbSNP: rs471767
rs471767
PGR
2 0.925 0.080 11 101034566 3 prime UTR variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs4721745
rs4721745
2 0.925 0.080 7 19113889 3 prime UTR variant C/G snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs4987886
rs4987886
ATM
2 0.925 0.080 11 108225326 5 prime UTR variant A/T snv 3.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs5031015
rs5031015
2 0.925 0.080 22 19963580 missense variant G/A snv 6.9E-04 2.5E-03 0.010 1.000 1 2008 2008