rs1047768
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1047768(C;C) |
| Make rs1047768(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 102852167 |
| Gene | BIVM-ERCC5, ERCC5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1047768 |
| dbSNP (classic) | rs1047768 |
| ClinGen | rs1047768 |
| ebi | rs1047768 |
| HLI | rs1047768 |
| Exac | rs1047768 |
| Gnomad | rs1047768 |
| Varsome | rs1047768 |
| LitVar | rs1047768 |
| Map | rs1047768 |
| PheGenI | rs1047768 |
| Biobank | rs1047768 |
| 1000 genomes | rs1047768 |
| hgdp | rs1047768 |
| ensembl | rs1047768 |
| geneview | rs1047768 |
| scholar | rs1047768 |
| rs1047768 | |
| pharmgkb | rs1047768 |
| gwascentral | rs1047768 |
| openSNP | rs1047768 |
| 23andMe | rs1047768 |
| SNPshot | rs1047768 |
| SNPdbe | rs1047768 |
| MSV3d | rs1047768 |
| GWAS Ctlg | rs1047768 |
| GMAF | 0.4881 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19661089
] Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China
[PMID 17299578] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
[PMID 19536092] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
[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 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
| ClinVar | |
|---|---|
| Risk | rs1047768(C;C) |
| Alt | rs1047768(C;C) |
| Reference | Rs1047768(T;T) |
| Significance | Other |
| Disease | not specified Xeroderma pigmentosum |
| Variation | info |
| Gene | BIVM-ERCC5 ERCC5 |
| CLNDBN | not specified Xeroderma pigmentosum |
| Reversed | 0 |
| HGVS | NC_000013.10:g.103504517T>C |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000116990.3, RCV000272532.1, |
[PMID 26339355] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma
[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.
[PMID 28351583] Candidate apoptotic and DNA repair gene approach confirms involvement of ERCC1, ERCC5, TP53 and MDM2 in radiation-induced toxicity in head and neck cancer.
[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.
