rs2228000
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | normal | |
| (T;T) | 1 | statistically significant, but slight, increase in bladder cancer risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 14158387 |
| Gene | XPC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2228000 |
| dbSNP (classic) | rs2228000 |
| ClinGen | rs2228000 |
| ebi | rs2228000 |
| HLI | rs2228000 |
| Exac | rs2228000 |
| Gnomad | rs2228000 |
| Varsome | rs2228000 |
| LitVar | rs2228000 |
| Map | rs2228000 |
| PheGenI | rs2228000 |
| Biobank | rs2228000 |
| 1000 genomes | rs2228000 |
| hgdp | rs2228000 |
| ensembl | rs2228000 |
| geneview | rs2228000 |
| scholar | rs2228000 |
| rs2228000 | |
| pharmgkb | rs2228000 |
| gwascentral | rs2228000 |
| openSNP | rs2228000 |
| 23andMe | rs2228000 |
| SNPshot | rs2228000 |
| SNPdbe | rs2228000 |
| MSV3d | rs2228000 |
| GWAS Ctlg | rs2228000 |
| GMAF | 0.2484 |
| Max Magnitude | 1 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2228000, also known as Ala499Val and A499V, is a SNP in the DNA nuclear excision repair gene xeroderma pigmentosum complementation group C XPC gene. The Val (V) allele is encoded by the rs2228000(T) allele.
A meta-analysis of 11 studies with 5581 cancer cases and 6351 controls concluded that rs2228000(T;T) homozygotes had an increased overall cancer risk (odds ratio of 1.24, CI: 1.08-1.42) compared with (C;C) homozygotes. This was primarily a risk for bladder cancer.[PMID 18771913]
[PMID 21622940
] Single Nucleotide Polymorphisms in DNA Repair Genes and Association with Breast Cancer Risk in the WEB Study
[PMID 21739480] Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control 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 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[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 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 21273643] In vitro functional effects of XPC gene rare variants from bladder cancer patients.
[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 24264314] Association between CCND1 and XPC polymorphisms and bladder cancer risk: a meta-analysis based on 15 case-control studies
[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.
| ClinVar | |
|---|---|
| Risk | Rs2228000(T;T) |
| Alt | Rs2228000(T;T) |
| Reference | Rs2228000(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Xeroderma pigmentosum |
| Variation | info |
| Gene | XPC |
| CLNDBN | not specified Xeroderma pigmentosum |
| Reversed | 1 |
| HGVS | NC_000003.11:g.14199887G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000122343.2, RCV000325908.1, |
[PMID 25759212] A distinct and replicable variant of the squamous cell carcinoma gene inositol polyphosphate-5-phosphatase modifies the susceptibility of arsenic-associated skin lesions in Bangladesh
[PMID 26339355] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma
[PMID 27248495] Study of Association between Pre-Senile Cataracts and the Polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish Population.
[PMID 28467961] Detection of nasopharyngeal carcinoma susceptibility with single nucleotide polymorphism analysis using next-generation sequencing technology.
[PMID 28735743] Exposure to meat-derived carcinogens and bulky DNA adduct levels in normal-appearing colon mucosa.
[PMID 28881764] Detection of nasopharyngeal carcinoma susceptibility with single nucleotide polymorphism analysis using next-generation sequencing technology.
