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.