Source: ALL
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: rs6498486
rs6498486
ERCC4
8 0.776 0.200 16 13919809 upstream gene variant A/C snv 0.27 0.030 1.000 3 2013 2014
dbSNP: rs759843019
rs759843019
ERCC4
6 0.807 0.240 16 13920188 missense variant G/A snv 8.2E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1799798
rs1799798
ERCC4
1 1.000 0.160 16 13920421 intron variant G/A snv 0.12 7.7E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs744154
rs744154
ERCC4
11 0.763 0.280 16 13921224 intron variant G/C snv 0.23 0.010 1.000 1 2010 2010
dbSNP: rs764731249
rs764731249
ERCC4
1 1.000 0.160 16 13928118 missense variant A/G snv 4.0E-06 0.700 1.000 4 1996 1999
dbSNP: rs397509403
rs397509403
ERCC4
4 0.851 0.200 16 13928149 missense variant T/C snv 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1799802
rs1799802
ERCC4
2 0.925 0.200 16 13934224 missense variant C/T snv 4.0E-03 4.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs1800067
rs1800067
ERCC4
17 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs912480692
rs912480692
ERCC4
1 1.000 0.160 16 13935401 missense variant G/A snv 0.700 0
dbSNP: rs769679311
rs769679311
ERCC4
1 1.000 0.160 16 13935469 missense variant G/A snv 4.0E-06 0.700 1.000 4 1996 1999
dbSNP: rs1555468482
rs1555468482
ERCC4
3 0.882 0.240 16 13935663 frameshift variant C/- del 0.700 1.000 1 2013 2013
dbSNP: rs147105770
rs147105770
ERCC4
8 0.776 0.280 16 13935697 missense variant C/G;T snv 1.2E-05; 6.4E-05 0.700 1.000 6 2010 2016
dbSNP: rs2020959
rs2020959
ERCC4
4 0.882 0.200 16 13947765 stop gained C/A;T snv 3.2E-05; 2.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs869025184
rs869025184
ERCC4
1 1.000 0.160 16 13947896 frameshift variant TCTC/- delins 0.700 0
dbSNP: rs121913049
rs121913049
ERCC4
4 0.851 0.240 16 13947991 missense variant C/G;T snv 4.8E-04 0.700 1.000 4 1996 2011
dbSNP: rs1799801
rs1799801
ERCC4
9 0.807 0.360 16 13948101 synonymous variant T/C snv 0.27 0.25 0.010 1.000 1 2016 2016
dbSNP: rs2276465
rs2276465
ERCC4
3 0.882 0.200 16 13949157 3 prime UTR variant G/A;C snv 0.020 1.000 2 2013 2014
dbSNP: rs2276466
rs2276466
ERCC4
15 0.732 0.320 16 13949318 3 prime UTR variant C/A;G snv 0.040 0.750 4 2013 2019
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2007 2007
dbSNP: rs74737358
rs74737358
XPC
2 0.925 0.160 3 14158882 missense variant G/A;T snv 8.1E-06; 2.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.030 1.000 3 2013 2014
dbSNP: rs121913028
rs121913028
ERCC1
4 0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05 0.010 1.000 1 2015 2015
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.030 1.000 3 2013 2014
dbSNP: rs2298881
rs2298881
ERCC1
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.020 1.000 2 2014 2014
dbSNP: rs143305574
rs143305574
ERCC6 ; PGBD3
2 0.925 0.160 10 49517092 missense variant T/A;C snv 8.0E-06; 6.8E-05 0.010 1.000 1 2007 2007