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rs1800067

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G)
(G;G) 0 common in complete genomics


Make rs1800067(A;A)
ReferenceGRCh38 38.1/141
Chromosome16
Position13935176
GeneERCC4, UBE2S
is asnp
is mentioned by
dbSNPrs1800067
ebirs1800067
HLIrs1800067
Exacrs1800067
Varsomers1800067
Maprs1800067
PheGenIrs1800067
hapmaprs1800067
1000 genomesrs1800067
hgdprs1800067
ensemblrs1800067
gopubmedrs1800067
geneviewrs1800067
scholarrs1800067
googlers1800067
pharmgkbrs1800067
gwascentralrs1800067
openSNPrs1800067
23andMers1800067
23andMe allrs1800067
SNP Nexus

SNPshotrs1800067
SNPdbers1800067
MSV3drs1800067
GWAS Ctlgrs1800067
GMAF0.03122
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene ERCC4
allele A
frequency 0.05
sift TOLERATED
HuRef 1103645432813
Disease Association Defects in ERCC4 are the cause of xeroderma pigmentosum, complementation group F (XP-F) (MIM:278760); also known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities.



[PMID 20150366OA-icon.png] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma


[PMID 22768293OA-icon.png] Association between XPF Polymorphisms and Cancer Risk: A Meta-Analysis


[PMID 17299578OA-icon.png] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.


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


[PMID 18709642OA-icon.png] Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.


[PMID 18767034OA-icon.png] Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.


[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 19124519OA-icon.png] DNA repair gene variants associated with benign breast disease in high cancer risk women.


[PMID 19252927OA-icon.png] Bladder cancer SNP panel predicts susceptibility and survival.


[PMID 19318433OA-icon.png] Nucleotide excision repair pathway polymorphisms and pancreatic cancer risk: evidence for role of MMS19L.


[PMID 21423097] Polymorphisms of the DNA repair genes XRCC1 and ERCC4 are not associated with smoking- and drinking-dependent larynx cancer in a Polish population.


GET Evidence
ERCC4-R415Q
aa_change Arg415Gln
aa_change_short R415Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.05475
summary



[PMID 22848636OA-icon.png] Association between single nucleotide polymorphisms in ERCC4 and risk of squamous cell carcinoma of the head and neck.


[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 24938470] Association of polymorphisms of the xeroderma pigmentosum complementation group F gene with increased glioma risk


[PMID 25292041] Associations of ERCC4 rs1800067 Polymorphism with Cancer Risk: an Updated Meta-analysis


ClinVar
Risk rs1800067(A;A)
Alt rs1800067(A;A)
Reference rs1800067(G;G)
Significance Untested
Disease not specified
Variation info
Gene ERCC4
CLNDBN not specified
Reversed 0
HGVS NC_000016.9:g.14029033G>A
CLNSRC ClinVar
CLNACC RCV000120828.1,



[PMID 26339355OA-icon.png] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma


[PMID 26436406] Genetic variability of genes involved in DNA repair influence treatment outcome in osteosarcoma


[PMID 26843108] A Comprehensive Meta-analysis of Genetic Associations Between Key Polymorphic Loci in DNA Repair Genes and Glioma Risk.