rs238406
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs238406(G;G) |
| Make rs238406(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 45365051 |
| Gene | ERCC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs238406 |
| dbSNP (classic) | rs238406 |
| ClinGen | rs238406 |
| ebi | rs238406 |
| HLI | rs238406 |
| Exac | rs238406 |
| Gnomad | rs238406 |
| Varsome | rs238406 |
| LitVar | rs238406 |
| Map | rs238406 |
| PheGenI | rs238406 |
| Biobank | rs238406 |
| 1000 genomes | rs238406 |
| hgdp | rs238406 |
| ensembl | rs238406 |
| geneview | rs238406 |
| scholar | rs238406 |
| rs238406 | |
| pharmgkb | rs238406 |
| gwascentral | rs238406 |
| openSNP | rs238406 |
| 23andMe | rs238406 |
| SNPshot | rs238406 |
| SNPdbe | rs238406 |
| MSV3d | rs238406 |
| GWAS Ctlg | rs238406 |
| GMAF | 0.377 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 23147699] Association of genetic polymorphisms in ERCC1 and ERCC2/XPD with risk of chronic benzene poisoning in a Chinese occupational population
[PMID 16212814
] ERCC1 and ERCC2 polymorphisms and adult glioma.
[PMID 18544627] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
[PMID 18635523] Genotypes and haplotypes of ERCC1 and ERCC2/XPD genes predict levels of benzo[a]pyrene diol epoxide-induced DNA adducts in cultured primary lymphocytes from healthy individuals: a genotype-phenotype correlation analysis.
[PMID 18709642] Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.
[PMID 18815927] Genetic epidemiology of bladder cancer: scaling up in the identification of low-penetrance genetic markers of bladder cancer risk and progression.
[PMID 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 19458053] Association of XPD polymorphisms with severe toxicity in non-small cell lung cancer patients in a Chinese population.
[PMID 19536092] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
[PMID 22579466] No evidence of association between the synonymous polymorphisms in XRCC1 and ERCC2 and breast cancer susceptibility among nonsmoking Chinese.
[PMID 23596707] [Study on association between ERCC2/XPD single nucleotide polymorphisms and DNA adducts damage induced by B[a]P in vitro]
[PMID 26253951] Use a survival model to correlate single-nucleotide polymorphisms of DNA repair genes with radiation dose-response in patients with non-small cell lung cancer
[PMID 26264164] A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors
[PMID 27888704] Association of R156R single nucleotide polymorphism of the ERCC2 gene with the susceptibility to ovarian cancer.
| ClinVar | |
|---|---|
| Risk | rs238406(G;G) |
| Alt | rs238406(G;G) |
| Reference | Rs238406(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Xeroderma pigmentosum |
| Variation | info |
| Gene | ERCC2 |
| CLNDBN | not specified Xeroderma pigmentosum |
| Reversed | 0 |
| HGVS | NC_000019.9:g.45868309T>G |
| CLNSRC | |
| CLNACC | RCV000242247.1, RCV000323397.1, |
[PMID 29173771] Genetic predisposition to lung adenocarcinoma among never-smoking Chinese with different epidermal growth factor receptor mutation status.
[PMID 30123346] Polymorphisms in ERCC2 and ERCC5 and Risk of Prostate Cancer: A Meta-Analysis and Systematic Review.
[PMID 31333776] Associations of mRNA expression of DNA repair genes and genetic polymorphisms with cancer risk: a bioinformatics analysis and meta-analysis.
