rs3212986
A SNP in the ERCC1 gene on chromosome 19. Its most notable genotype is C;C: common in clinvar
- Gene
- ERCC1
- Location
- Chr 1945,409,478 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 29%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs3212986 on the minus strand: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageC;C 50%
- European ancestry (Utah)C;C 57%
- Han Chinese (Beijing)C;C 47%
- Japanese (Tokyo)C;C 59%
- Yoruba (Nigeria)C;C 44%
- African ancestry (Southwest US)C;C 47%
- Chinese (Denver)C;C 54%
- Gujarati IndianC;C 53%
- Luhya (Kenya)C;C 56%
- Mexican ancestry (Los Angeles)C;C 19%
- Maasai (Kenya)C;C 53%
- TuscanC;C 59%
Related
Notes
From SNPedia
Show notes, about 420 words
Gene-smoking interaction associations for the ERCC1 polymorphisms in the risk of lung cancer. Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis. A distinct ERCC1 haplotype is associated with mRNA expression levels in prostate cancer patients. Genetic susceptibility to cancer: the role of polymorphisms in candidate genes. 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. Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma. Genetic variants associated with carboplatin-induced cytotoxicity in cell lines derived from Africans. Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy. International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways. Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk. Association and interactions between DNA repair gene polymorphisms and adult glioma. Effects of excision repair cross-complementation group 1 (ERCC1) single nucleotide polymorphisms on the prognosis of non-small cell lung cancer patients. Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array. 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. Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients. CYP2A6 and ERCC1 polymorphisms correlate with efficacy of S-1 plus cisplatin in metastatic gastric cancer patients. 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. Nucleotide excision repair gene ERCC1 polymorphisms contribute to cancer susceptibility: a meta-analysis. ERCC1 polymorphisms and risk of adult glioma in a Chinese population: a hospital-based case-control study.
Source and license
Adapted from rs3212986 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.