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rs1799793

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1799793(A;A)
Make rs1799793(A;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position45364001
GeneERCC2
is asnp
is mentioned by
dbSNPrs1799793
ebirs1799793
HLIrs1799793
Exacrs1799793
Varsomers1799793
Maprs1799793
PheGenIrs1799793
hapmaprs1799793
1000 genomesrs1799793
hgdprs1799793
ensemblrs1799793
gopubmedrs1799793
geneviewrs1799793
scholarrs1799793
googlers1799793
pharmgkbrs1799793
gwascentralrs1799793
openSNPrs1799793
23andMers1799793
23andMe allrs1799793
SNP Nexus

SNPshotrs1799793
SNPdbers1799793
MSV3drs1799793
GWAS Ctlgrs1799793
GMAF0.1942
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene ERCC2
allele T
frequency 0.308
sift TOLERATED
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
ERCC2-D312N
aa_change Asp312Asn
aa_change_short D312N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.234771
summary



[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]


ClinVar
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
CLNSRC ClinVar
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