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: 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: 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: 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: 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: 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: rs869025184
rs869025184
ERCC4
1 1.000 0.160 16 13947896 frameshift variant TCTC/- delins 0.700 0
dbSNP: rs912480692
rs912480692
ERCC4
1 1.000 0.160 16 13935401 missense variant G/A snv 0.700 0
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: 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: 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: 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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2013 2016
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2013 2016
dbSNP: rs121912654
rs121912654
TP53
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2013 2016
dbSNP: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2013 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: rs2298881
rs2298881
ERCC1
25 0.653 0.400 19 45423658 intron variant C/A;T snv 0.020 1.000 2 2014 2014
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2013 2016
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: 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
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: 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: 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