Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41556519
rs41556519
ERCC2
0.810 GeneticVariation UNIPROT

dbSNP: rs121913020
rs121913020
ERCC2
T 0.800 CausalMutation CLINVAR

dbSNP: rs121913024
rs121913024
ERCC2
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913026
rs121913026
ERCC2
A 0.710 CausalMutation CLINVAR

dbSNP: rs752510317
rs752510317
ERCC2
0.710 GeneticVariation UNIPROT

dbSNP: rs1340806384
rs1340806384
ERCC2
0.700 GeneticVariation UNIPROT

dbSNP: rs140522180
rs140522180
ERCC2
0.700 GeneticVariation UNIPROT

dbSNP: rs144564120
rs144564120
ERCC2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1568546120
rs1568546120
ERCC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568546252
rs1568546252
ERCC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs762309206
rs762309206
ERCC2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs772572683
rs772572683
ERCC2
0.700 GeneticVariation UNIPROT

dbSNP: rs964247601
rs964247601
ERCC2
A 0.700 CausalMutation CLINVAR

dbSNP: rs1799793
rs1799793
ERCC2
0.100 GeneticVariation BEFREE XPD Asp312Asn (rs1799793) of Han ethnic was associated with a borderline decrease of ESCC (OR: 0.362, 95% CI: 0.145-0.906), however, it was associated with ESCC risk in Uygur ethnic (OR: 2.403, 95% CI: 1.087-5.310). 21553048

2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE XPD Lys751Gln (A>C) may have inverse predictive and prognostic role in platinum-based treatment of NSCLC according to different ethnicities. 24260311

2013
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.070 GeneticVariation BEFREE A hospital-based case-control study was conducted in Brescia, Italy, to assess the relationship between polymorphisms in DNA repair genes XRCC1 (Arg(399)Gln), XRCC3 (Thr(241)Met), and XPD (Lys(751)Gln) and bladder cancer risk. 14652287

2003
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE A meta-analysis based on 9 independent case-control studies involving 3165 PCa patients and 3539 healthy controls for XPD Gln751Lys SNP (single nucleotide polymorphism) and 2555 cases and 3182 controls for Asn312Asp SNP was performed to address this association. 23028604

2012
dbSNP: rs41556519
rs41556519
ERCC2
A 0.810 CausalMutation CLINVAR A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. 22826098

2012
dbSNP: rs758439420
rs758439420
ERCC2
T 0.700 CausalMutation CLINVAR A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity. 22826098

2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE A significant association was observed between X</span>PD</span> K75</span>1Q polymorphism and the risk of NPC using conditional logistic regression. 26086338

2015
dbSNP: rs1799793
rs1799793
ERCC2
0.100 GeneticVariation BEFREE A statistically significant finding could also be seen in high quality subgroup, small-and-moderate sample size subgroup, articles published after 2007, or PCR-RFLP genotyping subgroup for XPD Asp312Asn polymorphism. 23028453

2012
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
0.100 GeneticVariation BEFREE A statistically significant finding could be seen in noncardia-type gastric cancer for XPD Lys751Gln polymorphism. 23028453

2012
dbSNP: rs376556895
rs376556895
ERCC2
0.810 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs121913020
rs121913020
ERCC2
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
dbSNP: rs121913024
rs121913024
ERCC2
0.800 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999