rs1799793
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1799793(A;A) |
| Make rs1799793(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 45364001 |
| Gene | ERCC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799793 |
| dbSNP (classic) | rs1799793 |
| ClinGen | rs1799793 |
| ebi | rs1799793 |
| HLI | rs1799793 |
| Exac | rs1799793 |
| Gnomad | rs1799793 |
| Varsome | rs1799793 |
| LitVar | rs1799793 |
| Map | rs1799793 |
| PheGenI | rs1799793 |
| Biobank | rs1799793 |
| 1000 genomes | rs1799793 |
| hgdp | rs1799793 |
| ensembl | rs1799793 |
| geneview | rs1799793 |
| scholar | rs1799793 |
| rs1799793 | |
| pharmgkb | rs1799793 |
| gwascentral | rs1799793 |
| openSNP | rs1799793 |
| 23andMe | rs1799793 |
| SNPshot | rs1799793 |
| SNPdbe | rs1799793 |
| MSV3d | rs1799793 |
| GWAS Ctlg | rs1799793 |
| GMAF | 0.1942 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20150366
] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma
[PMID 19902366] Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study
[PMID 21283657] 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 21826087] Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy
[PMID 18635523] 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 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 16857995] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 17299578] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
[PMID 17687452] Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire.
[PMID 17705814] Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18298806] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.
[PMID 18544627] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
[PMID 18551366] Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 18709642] Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.
[PMID 18711149] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.
[PMID 18854777] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
[PMID 18990748] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
[PMID 19029193] 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 19270000] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
[PMID 19274602] Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride.
[PMID 19367277] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.
[PMID 19706757] 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 20003391] ERCC2, ERCC1 polymorphisms and haplotypes, cooking oil fume and lung adenocarcinoma risk in Chinese non-smoking females.
[PMID 20003463] Association between polymorphisms in DNA repair genes and survival of non-smoking female patients with lung adenocarcinoma.
[PMID 20066159] 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.
[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 23335232] 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 24023723] ERCC1 and ERCC2 Variants Predict Survival in Gastric Cancer Patients
[PMID 24260311] 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 24500421] 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) rs1799793(T;T) |
| Alt | rs1799793(A;A) rs1799793(T;T) |
| Reference | Rs1799793(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Xeroderma pigmentosum |
| Variation | info |
| Gene | ERCC2 |
| CLNDBN | not specified Xeroderma pigmentosum |
| Reversed | 1 |
| HGVS | NC_000019.9:g.45867259C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000120789.2, RCV000393523.1, |
[PMID 25789018] 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 26339355] 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 26475344] CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer
[PMID 28707579] The Involvement of ERCC2/XPD and ERCC6/CSB Wild Type Alleles in Protection against Aging and Cancer.
[PMID 29544444] Significant association between ERCC2 and MTHR polymorphisms and breast cancer susceptibility in Moroccan population: genotype and haplotype analysis in a case-control study.
[PMID 30123346] Polymorphisms in ERCC2 and ERCC5 and Risk of Prostate Cancer: A Meta-Analysis and Systematic Review.
[PMID 32606887] The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case-Control Study.
