rs3212986
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs3212986(G;T) |
| Make rs3212986(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 45409478 |
| Gene | CD3EAP, ERCC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3212986 |
| dbSNP (classic) | rs3212986 |
| ClinGen | rs3212986 |
| ebi | rs3212986 |
| HLI | rs3212986 |
| Exac | rs3212986 |
| Gnomad | rs3212986 |
| Varsome | rs3212986 |
| LitVar | rs3212986 |
| Map | rs3212986 |
| PheGenI | rs3212986 |
| Biobank | rs3212986 |
| 1000 genomes | rs3212986 |
| hgdp | rs3212986 |
| ensembl | rs3212986 |
| geneview | rs3212986 |
| scholar | rs3212986 |
| rs3212986 | |
| pharmgkb | rs3212986 |
| gwascentral | rs3212986 |
| openSNP | rs3212986 |
| 23andMe | rs3212986 |
| SNPshot | rs3212986 |
| SNPdbe | rs3212986 |
| MSV3d | rs3212986 |
| GWAS Ctlg | rs3212986 |
| GMAF | 0.2925 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19318434
] Associations between Polymorphisms in DNA Repair Genes and Glioblastoma.
[PMID 21826087] Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy
[PMID 15734977] Gene-smoking interaction associations for the ERCC1 polymorphisms in the risk of lung cancer.
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 17299578] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
[PMID 18332046] A distinct ERCC1 haplotype is associated with mRNA expression levels in prostate cancer patients.
[PMID 18505952] Genetic susceptibility to cancer: the role of polymorphisms in candidate genes.
[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 18711149] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.
[PMID 18765826] Genetic variants associated with carboplatin-induced cytotoxicity in cell lines derived from Africans.
[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 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 19361884] Effects of excision repair cross-complementation group 1 (ERCC1) single nucleotide polymorphisms on the prognosis of non-small cell lung cancer patients.
[PMID 19536092] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
[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 20141440] Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.
[PMID 21364592] CYP2A6 and ERCC1 polymorphisms correlate with efficacy of S-1 plus cisplatin in metastatic gastric cancer patients.
[PMID 21553053] The determination of relationship between "excision repair cross-complementing group 1" (ERCC1) gene T19007C and C8092A single nucleotide polymorphisms and clinicopathological parameters in non-small cell lung cancer.
[PMID 22002622] Nucleotide excision repair gene ERCC1 polymorphisms contribute to cancer susceptibility: a meta-analysis.
[PMID 22201261] ERCC1 polymorphisms and risk of adult glioma in a Chinese population: a hospital-based case-control study.
[PMID 23166636] Polymorphisms in ERCC1 and XPF Genes and Risk of Gastric Cancer in an Eastern Chinese Population
[PMID 23147699] Association of genetic polymorphisms in ERCC1 and ERCC2/XPD with risk of chronic benzene poisoning in a Chinese occupational population
[PMID 23335232] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx
[PMID 23909490] Polymorphisms in the ERCC1 and XPF Genes and Risk of Breast Cancer in a Chinese Population
[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 24254311] Association between ERCC1 C8092A and ERCC2 K751Q polymorphisms and risk of adult glioma: a meta-analysis
[PMID 24500421] Association between DNA repair gene polymorphisms and risk of glioma: A systematic review and meta-analysis
[PMID 24499239] Predicting the outcome of platinum-based chemotherapies in epithelial ovarian cancer using the 8092C/A polymorphism of ERCC1: a meta-analysis
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[PMID 23203453] Excision repair of BPDE-adducts in human lymphocytes: diminished capacity associated with ERCC1 C8092A (rs3212986) polymorphism.
[PMID 24036326] Genotoxic effect of exposure to metal(loid)s. A molecular epidemiology survey of populations living and working in Panasqueira mine area, Portugal
[PMID 24859833] Polymorphisms in ERCC1 gene could predict clinical outcome of platinum-based chemotherapy for non-small cell lung cancer patients
[PMID 24861646] Association of single nucleotide polymorphisms of ERCC1 and XPF with colorectal cancer risk and interaction with tobacco use
[PMID 26022132] Association of ERCC1 polymorphisms (rs3212986 and rs11615) with the risk of head and neck carcinomas based on case-control studies
[PMID 26264164] A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors
[PMID 26400354] Investigation of ERCC1 and ERCC2 gene polymorphisms and response to chemotherapy and overall survival in osteosarcoma
[PMID 26475344] CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer
[PMID 26843108] A Comprehensive Meta-analysis of Genetic Associations Between Key Polymorphic Loci in DNA Repair Genes and Glioma Risk.
| ClinVar | |
|---|---|
| Risk | rs3212986(T;T) |
| Alt | rs3212986(T;T) |
| Reference | Rs3212986(G;G) |
| Significance | Drug-response |
| Disease | Platinum compounds response - Toxicity/ADR cisplatin response - Toxicity/ADR platinum response - Toxicity/ADR |
| Variation | info |
| Gene | CD3EAP ERCC1 |
| CLNDBN | Platinum compounds response - Toxicity/ADR cisplatin response - Toxicity/ADR platinum response - Toxicity/ADR |
| Reversed | 1 |
| HGVS | NC_000019.9:g.45912736C>A |
| CLNSRC | PharmGKB Clinical Annotation |
| CLNACC | RCV000211219.1, RCV000211315.1, RCV000211398.1, |
[PMID 28743890] Polymorphism in ERCC1 confers susceptibility of coronary artery disease and severity of coronary artery atherosclerosis in a Chinese Han population.
[PMID 29151331] Polymorphisms of cancer-related genes and risk of multipleprimary malignancies involving colorectal cancer
[PMID 29416669] Association of DNA repair gene polymorphisms with the risk of radiation pneumonitis in lung cancer patients.
[PMID 32727492] A minor allele of the haplotype located in the 19q13 loci is associated with a decreased risk of hyper-LDL-cholesterolemia, and a balanced diet and high protein intake can reduce the risk.
