Have questions? Visit https://www.reddit.com/r/SNPedia


From SNPedia

Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1799793(A;A)
Make rs1799793(A;G)
ReferenceGRCh38 38.1/142
is asnp
is mentioned by
1000 genomesrs1799793
23andMe allrs1799793
SNP Nexus

GWAS Ctlgrs1799793
Max Magnitude0
? (A;A) (A;G) (G;G) 28

Venter snp
Source plos
Gene ERCC2
allele T
frequency 0.308
HuRef 1103691154140
Disease Association Defects in ERCC2 are the cause of COFS syndrome (MIM:214150); also known as cerebro-oculo-facio-skeletal syndrome. COFS syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.

[PMID 20150366OA-icon.png] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma

[PMID 19902366OA-icon.png] Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study

[PMID 21283657OA-icon.png] Gallbladder Cancer Predisposition: A Multigenic Approach to DNA-Repair, Apoptotic and Inflammatory Pathway Genes

[PMID 21419115] DNA Repair Gene ERCC2 Polymorphisms and Risk of Squamous Cell Carcinoma of the Head and Neck

[PMID 21739480] Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis

[PMID 21826087OA-icon.png] Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy

[PMID 18635523OA-icon.png] Genotypes and haplotypes of ERCC1 and ERCC2/XPD genes predict levels of benzo[a]pyrene diol epoxide-induced DNA adducts in cultured primary lymphocytes from healthy individuals: a genotype-phenotype correlation analysis.

[PMID 15564288] Polymorphisms in XPD and TP53 and mutation in human lung cancer.

[PMID 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

[PMID 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

[PMID 17299578OA-icon.png] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.

[PMID 17687452OA-icon.png] Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire.

[PMID 17705814OA-icon.png] Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain.

[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18298806OA-icon.png] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.

[PMID 18544627OA-icon.png] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.

[PMID 18551366OA-icon.png] Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk.

[PMID 18701435OA-icon.png] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.

[PMID 18709642OA-icon.png] Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.

[PMID 18711149OA-icon.png] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.

[PMID 18854777OA-icon.png] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.

[PMID 18990748OA-icon.png] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.

[PMID 19029193OA-icon.png] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.

[PMID 19055600] Analysis of ERCC2/XPD functional polymorphisms in systemic lupus erythematosus.

[PMID 19270000OA-icon.png] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.

[PMID 19274602OA-icon.png] Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride.

[PMID 19367277OA-icon.png] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.

[PMID 19706757OA-icon.png] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.

[PMID 19846926] Significant association of XPD codon 312 single nucleotide polymorphism with bladder cancer susceptibility in Taiwan.

[PMID 20003391OA-icon.png] ERCC2, ERCC1 polymorphisms and haplotypes, cooking oil fume and lung adenocarcinoma risk in Chinese non-smoking females.

[PMID 20003463OA-icon.png] Association between polymorphisms in DNA repair genes and survival of non-smoking female patients with lung adenocarcinoma.

[PMID 20066159OA-icon.png] MMP9 but Not EGFR, MET, ERCC1, P16, and P-53 Is Associated with Response to Concomitant Radiotherapy, Cetuximab, and Weekly Cisplatin in Patients with Locally Advanced Head and Neck Cancer.

[PMID 20564624] Polymorphisms in ERCC2, MSH2, and OGG1 DNA repair genes and gallbladder cancer risk in a population of Northern India.

[PMID 21195504] Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk.

[PMID 21553048] Analysis of XPD genetic polymorphisms of esophageal squamous cell carcinoma in a population of Yili Prefecture, in Xinjiang, China.

[PMID 21741876] Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk.

[PMID 21974800] DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome.

GET Evidence
aa_change Asp312Asn
aa_change_short D312N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.234771

[PMID 23147699] Association of genetic polymorphisms in ERCC1 and ERCC2/XPD with risk of chronic benzene poisoning in a Chinese occupational population

[PMID 23680703] A genetic variant in ERCC2 is associated with gastric cancer prognosis in a Chinese population

[PMID 23335232OA-icon.png] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx

[PMID 23962907] ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cancer patients treated with cisplatin/5-FU-based neoadjuvant therapy

[PMID 24023723OA-icon.png] ERCC1 and ERCC2 Variants Predict Survival in Gastric Cancer Patients

[PMID 24260311OA-icon.png] Polymorphisms in XPD Gene Could Predict Clinical Outcome of Platinum-Based Chemotherapy for Non-Small Cell Lung Cancer Patients: A Meta-Analysis of 24 Studies

[PMID 24500421OA-icon.png] Association between DNA repair gene polymorphisms and risk of glioma: A systematic review and meta-analysis

[PMID 23661361] The potential effect of gender in CYP1A1 and GSTM1 genotype-specific associations with pediatric brain tumor.

[PMID 24933002] Common variants of xeroderma pigmentosum genes and prostate cancer risk

[PMID 23596707] [Study on association between ERCC2/XPD single nucleotide polymorphisms and DNA adducts damage induced by B[a]P in vitro]

Risk rs1799793(A;A)
Alt rs1799793(A;A)
Reference rs1799793(G;G)
Significance Untested
Disease not specified
Variation info
Gene ERCC2
CLNDBN not specified
Reversed 1
HGVS NC_000019.9:g.45867259C>T
CLNACC RCV000120789.1,

[PMID 25789018OA-icon.png] Analysis of ERCC1 and ERCC2 gene variants in osteosarcoma, colorectal and breast cancer

[PMID 26054330] Genetic risk of subsequent esophageal cancer in lymphoma and breast cancer long-term survival patients: a pilot study

[PMID 26159902] DNA Repair Gene Polymorphisms in Relation to Non-Small Cell Lung Cancer Survival

[PMID 26254397] Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotype to Gastric Cancer Risk in Taiwan

[PMID 26264164] A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors

[PMID 26314858] Influences of ERCC1, ERCC2, XRCC1, GSTP1, GSTT1, and MTHFR polymorphisms on clinical outcomes in gastric cancer patients treated with EOF chemotherapy

[PMID 26339355OA-icon.png] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma

[PMID 26400354] Investigation of ERCC1 and ERCC2 gene polymorphisms and response to chemotherapy and overall survival in osteosarcoma

[PMID 26436406] Genetic variability of genes involved in DNA repair influence treatment outcome in osteosarcoma

[PMID 26475344OA-icon.png] CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer