rs2228001
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | ||
| (A;C) | normal | |
| (C;C) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 14145949 |
| Gene | XPC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2228001 |
| dbSNP (classic) | rs2228001 |
| ClinGen | rs2228001 |
| ebi | rs2228001 |
| HLI | rs2228001 |
| Exac | rs2228001 |
| Gnomad | rs2228001 |
| Varsome | rs2228001 |
| LitVar | rs2228001 |
| Map | rs2228001 |
| PheGenI | rs2228001 |
| Biobank | rs2228001 |
| 1000 genomes | rs2228001 |
| hgdp | rs2228001 |
| ensembl | rs2228001 |
| geneview | rs2228001 |
| scholar | rs2228001 |
| rs2228001 | |
| pharmgkb | rs2228001 |
| gwascentral | rs2228001 |
| openSNP | rs2228001 |
| 23andMe | rs2228001 |
| SNPshot | rs2228001 |
| SNPdbe | rs2228001 |
| MSV3d | rs2228001 |
| GWAS Ctlg | rs2228001 |
| GMAF | 0.3439 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
rs2228001, also known as Lys939Gln, K939Q, and K940Q, is a SNP in the DNA nuclear excision repair gene xeroderma pigmentosum complementation group C XPC gene. The Lys (K) allele is encoded by the rs2228001(A) allele.
A meta-analysis of 16 studies with 6797 cancer cases and 9018 controls concluded that rs2228001(C;C) homozygotes had an increased overall cancer risk (odds ratio of 1.16, CI: 1.05-1.28) compared with (A;A) homozygotes. This was primarily a risk for lung cancer.[PMID 18771913]
[PMID 20056640] Genetic variants of nucleotide excision repair genes are associated with DNA damage in coke oven workers
[PMID 21426550
] The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development
[PMID 21622940] Single Nucleotide Polymorphisms in DNA Repair Genes and Association with Breast Cancer Risk in the WEB Study
[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 17498315] Sequence variations in DNA repair gene XPC is associated with lung cancer risk in a Chinese population: a case-control study.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18544627] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma 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 18838045] Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype.
[PMID 18854777] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
[PMID 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 19270000] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
[PMID 19706757] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
[PMID 20141440] Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.
[PMID 21324488] Single nucleotide polymorphisms in tobacco metabolism and DNA repair genes and prognosis in resected non-small-cell lung cancer.
[PMID 23335232] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx
[PMID 23400628] Associations of Lys939Gln and Ala499Val polymorphisms of the XPC gene with cancer susceptibility: a meta-analysis
[PMID 24552298] Association Between Six Genetic Polymorphisms and Colorectal Cancer: A Meta-Analysis
[PMID 22902050] Using haplotype analysis to elucidate significant associations between genes and Hodgkin lymphoma.
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[PMID 23436679] Xeroderma pigmentosum genes and melanoma risk.
[PMID 25785113] XPC codon 939 polymorphism is associated with susceptibility to DNA damage induced by aflatoxin B1 exposure
[PMID 26135929] A Systematic Review and Meta-Analysis of Three Gene Variants Association with Risk of Prostate Cancer: An Update
| ClinVar | |
|---|---|
| Risk | Rs2228001(A;A) |
| Alt | Rs2228001(A;A) |
| Reference | Rs2228001(C;C) |
| Significance | Drug-response |
| Disease | not specified cisplatin response - Toxicity/ADR Cardiomyopathy Xeroderma pigmentosum |
| Variation | info |
| Gene | XPC |
| CLNDBN | not specified cisplatin response - Toxicity/ADR Cardiomyopathy, ARVC Xeroderma pigmentosum |
| Reversed | 1 |
| HGVS | NC_000003.11:g.14187449G>T |
| CLNSRC | PharmGKB Clinical Annotation UniProtKB (protein) |
| CLNACC | RCV000170436.2, RCV000211268.1, RCV000331098.1, RCV000380504.1, |
[PMID 26339355] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma
[PMID 28115302] Interactions among polymorphisms of NER genes prompt the risk of transplantation rejection.
[PMID 28735743] Exposure to meat-derived carcinogens and bulky DNA adduct levels in normal-appearing colon mucosa.
[PMID 31374908] Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.
