rs2296147
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs2296147(C;C) |
| Make rs2296147(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 102846025 |
| Gene | BIVM-ERCC5, ERCC5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2296147 |
| dbSNP (classic) | rs2296147 |
| ClinGen | rs2296147 |
| ebi | rs2296147 |
| HLI | rs2296147 |
| Exac | rs2296147 |
| Gnomad | rs2296147 |
| Varsome | rs2296147 |
| LitVar | rs2296147 |
| Map | rs2296147 |
| PheGenI | rs2296147 |
| Biobank | rs2296147 |
| 1000 genomes | rs2296147 |
| hgdp | rs2296147 |
| ensembl | rs2296147 |
| geneview | rs2296147 |
| scholar | rs2296147 |
| rs2296147 | |
| pharmgkb | rs2296147 |
| gwascentral | rs2296147 |
| openSNP | rs2296147 |
| 23andMe | rs2296147 |
| SNPshot | rs2296147 |
| SNPdbe | rs2296147 |
| MSV3d | rs2296147 |
| GWAS Ctlg | rs2296147 |
| GMAF | 0.3035 |
| 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 22371296] Polymorphisms in the XPG gene and risk of gastric cancer in Chinese populations.
[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 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 | rs2296147(C;C) |
| Alt | rs2296147(C;C) |
| Reference | Rs2296147(T;T) |
| Significance | Non-pathogenic |
| Disease | Xeroderma pigmentosum |
| Variation | info |
| Gene | BIVM-ERCC5 ERCC5 |
| CLNDBN | Xeroderma pigmentosum |
| Reversed | 0 |
| HGVS | NC_000013.10:g.103498375T>C |
| CLNSRC | |
| CLNACC | RCV000278463.1, |
[PMID 28952217] Study on association between ERCC5 single nucleotide polymorphism and susceptibility to esophageal cancer.
[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.
