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rs3212986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3212986(G;T)
Make rs3212986(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position45409478
GeneCD3EAP, ERCC1
is asnp
is mentioned by
dbSNPrs3212986
ebirs3212986
HLIrs3212986
Exacrs3212986
Varsomers3212986
Maprs3212986
PheGenIrs3212986
hapmaprs3212986
1000 genomesrs3212986
hgdprs3212986
ensemblrs3212986
gopubmedrs3212986
geneviewrs3212986
scholarrs3212986
googlers3212986
pharmgkbrs3212986
gwascentralrs3212986
openSNPrs3212986
23andMers3212986
23andMe allrs3212986
SNP Nexus

SNPshotrs3212986
SNPdbers3212986
MSV3drs3212986
GWAS Ctlgrs3212986
GMAF0.2925
Max Magnitude0
? (G;G) (G;T) (T;T) 28
[PMID 19318434OA-icon.png] Associations between Polymorphisms in DNA Repair Genes and Glioblastoma.




[PMID 21826087OA-icon.png] 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 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

[PMID 17299578OA-icon.png] 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 18505952OA-icon.png] Genetic susceptibility to cancer: the role of polymorphisms in candidate genes.

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

[PMID 18765826OA-icon.png] Genetic variants associated with carboplatin-induced cytotoxicity in cell lines derived from Africans.

[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 19124499OA-icon.png] 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 19536092OA-icon.png] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

[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 20141440OA-icon.png] Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.

[PMID 21364592OA-icon.png] 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.


GET Evidence
CD3EAP-Q504K
aa_change Gln504Lys
aa_change_short Q504K
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.258927
summary



[PMID 23166636OA-icon.png] 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 23335232OA-icon.png] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx


[PMID 23909490OA-icon.png] 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 24023723OA-icon.png] 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 24500421OA-icon.png] 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 23175176OA-icon.png] 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 26475344OA-icon.png] 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 ERCC1 CD3EAP
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 PharmGKB
CLNACC RCV000211219.1, RCV000211315.1, RCV000211398.1,