rs1800067
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | ||
| (G;G) | 0 | common in complete genomics |
| Make rs1800067(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 13935176 |
| Gene | ERCC4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800067 |
| dbSNP (classic) | rs1800067 |
| ClinGen | rs1800067 |
| ebi | rs1800067 |
| HLI | rs1800067 |
| Exac | rs1800067 |
| Gnomad | rs1800067 |
| Varsome | rs1800067 |
| LitVar | rs1800067 |
| Map | rs1800067 |
| PheGenI | rs1800067 |
| Biobank | rs1800067 |
| 1000 genomes | rs1800067 |
| hgdp | rs1800067 |
| ensembl | rs1800067 |
| geneview | rs1800067 |
| scholar | rs1800067 |
| rs1800067 | |
| pharmgkb | rs1800067 |
| gwascentral | rs1800067 |
| openSNP | rs1800067 |
| 23andMe | rs1800067 |
| SNPshot | rs1800067 |
| SNPdbe | rs1800067 |
| MSV3d | rs1800067 |
| GWAS Ctlg | rs1800067 |
| GMAF | 0.03122 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20150366
] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma
[PMID 22768293] Association between XPF Polymorphisms and Cancer Risk: A Meta-Analysis
[PMID 17299578] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
[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 18767034] Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.
[PMID 18990748] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
[PMID 19029193] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
[PMID 19124519] DNA repair gene variants associated with benign breast disease in high cancer risk women.
[PMID 19252927] Bladder cancer SNP panel predicts susceptibility and survival.
[PMID 19318433] 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.
[PMID 22848636] 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 | Probable-non-pathogenic |
| Disease | not specified Xeroderma pigmentosum |
| Variation | info |
| Gene | ERCC4 |
| CLNDBN | not specified Xeroderma pigmentosum |
| Reversed | 0 |
| HGVS | NC_000016.9:g.14029033G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000120828.2, RCV000283278.1, |
[PMID 26339355] 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.
