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rs2228000

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) normal
(T;T) 1 statistically significant, but slight, increase in bladder cancer risk
ReferenceGRCh38 38.1/141
Chromosome3
Position14158387
GeneXPC
is asnp
is mentioned by
dbSNPrs2228000
ebirs2228000
HLIrs2228000
Exacrs2228000
Varsomers2228000
Maprs2228000
PheGenIrs2228000
hapmaprs2228000
1000 genomesrs2228000
hgdprs2228000
ensemblrs2228000
gopubmedrs2228000
geneviewrs2228000
scholarrs2228000
googlers2228000
pharmgkbrs2228000
gwascentralrs2228000
openSNPrs2228000
23andMers2228000
23andMe allrs2228000
SNP Nexus

SNPshotrs2228000
SNPdbers2228000
MSV3drs2228000
GWAS Ctlgrs2228000
GMAF0.2484
Max Magnitude1
? (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 21622940OA-icon.png] 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 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.


[PMID 17498315OA-icon.png] Sequence variations in DNA repair gene XPC is associated with lung cancer risk in a Chinese population: a case-control study.


[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.


[PMID 18544627OA-icon.png] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.


[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.


[PMID 18701435OA-icon.png] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.


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


[PMID 18854777OA-icon.png] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.


[PMID 19124499OA-icon.png] Association and interactions between DNA repair gene polymorphisms and adult glioma.


[PMID 19270000OA-icon.png] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.


[PMID 19706757OA-icon.png] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.


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


[PMID 21273643OA-icon.png] In vitro functional effects of XPC gene rare variants from bladder cancer patients.


GET Evidence
XPC-A499V
aa_change Ala499Val
aa_change_short A499V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.203069
summary



[PMID 23335232OA-icon.png] 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 22902050OA-icon.png] Using haplotype analysis to elucidate significant associations between genes and Hodgkin lymphoma.


[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 23436679] Xeroderma pigmentosum genes and melanoma risk.


ClinVar
Risk rs2228000(T;T)
Alt rs2228000(T;T)
Reference rs2228000(C;C)
Significance Untested
Disease not specified
Variation info
Gene XPC
CLNDBN not specified
Reversed 1
HGVS NC_000003.11:g.14199887G>A
CLNSRC ClinVar
CLNACC RCV000122343.1,



[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 26339355OA-icon.png] 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.