rs751402
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs751402(C;C) |
| Make rs751402(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 102845848 |
| Gene | BIVM-ERCC5, ERCC5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs751402 |
| dbSNP (classic) | rs751402 |
| ClinGen | rs751402 |
| ebi | rs751402 |
| HLI | rs751402 |
| Exac | rs751402 |
| Gnomad | rs751402 |
| Varsome | rs751402 |
| LitVar | rs751402 |
| Map | rs751402 |
| PheGenI | rs751402 |
| Biobank | rs751402 |
| 1000 genomes | rs751402 |
| hgdp | rs751402 |
| ensembl | rs751402 |
| geneview | rs751402 |
| scholar | rs751402 |
| rs751402 | |
| pharmgkb | rs751402 |
| gwascentral | rs751402 |
| openSNP | rs751402 |
| 23andMe | rs751402 |
| SNPshot | rs751402 |
| SNPdbe | rs751402 |
| MSV3d | rs751402 |
| GWAS Ctlg | rs751402 |
| GMAF | 0.2906 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 24353624
] XPG is a novel biomarker of clinical outcome in advanced non-small-cell lung cancer
[PMID 20233728] Cis-acting genetic variation at an E2F1/YY1 response site and putative p53 site is associated with altered allele-specific expression of ERCC5 (XPG) transcript in normal human bronchial epithelium.
[PMID 22981091] Association between polymorphisms of DNA repair gene ERCC5 and oral squamous cell carcinoma.
[PMID 22982416] Promoter polymorphisms in DNA repair gene ERCC5 and susceptibility to gastric cancer in Chinese.
[PMID 23211354] Role of ERCC5 promoter polymorphisms in response to platinum-based chemotherapy in patients with advanced non-small-cell lung cancer.
[PMID 25644244] Association analysis of ERCC5 gene polymorphisms with risk of breast cancer in Han women of northwest China
[PMID 27228234] XPG Gene Polymorphisms and the Risk of Gastric Cardiac Adenocarcinoma.
[PMID 27235448] Haplotype and diplotype analyses of variation in ERCC5 transcription cis-regulation in normal bronchial epithelial cells.
[PMID 28115302] Interactions among polymorphisms of NER genes prompt the risk of transplantation rejection.
| ClinVar | |
|---|---|
| Risk | rs751402(C;C) |
| Alt | rs751402(C;C) |
| Reference | Rs751402(T;T) |
| Significance | Non-pathogenic |
| Disease | Xeroderma pigmentosum |
| Variation | info |
| Gene | BIVM-ERCC5 ERCC5 |
| CLNDBN | Xeroderma pigmentosum |
| Reversed | 1 |
| HGVS | NC_000013.10:g.103498198A>G |
| CLNSRC | |
| CLNACC | RCV000392824.1, |
[PMID 29434449] Impact of SNP-SNP interactions of DNA repair gene ERCC5 and metabolic gene GSTP1 on gastric cancer/atrophic gastritis risk in a Chinese population.
[PMID 30139812] XPG polymorphisms rs873601 G>A contributes to uterine leiomyoma susceptibility in a Southern Chinese population.
[PMID 33393424] XPG gene polymorphisms and glioma susceptibility: a two-center case-control study.
