rs17655
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs17655(C;G) |
| Make rs17655(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 102875652 |
| Gene | BIVM-ERCC5, ERCC5 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17655 |
| dbSNP (classic) | rs17655 |
| ClinGen | rs17655 |
| ebi | rs17655 |
| HLI | rs17655 |
| Exac | rs17655 |
| Gnomad | rs17655 |
| Varsome | rs17655 |
| LitVar | rs17655 |
| Map | rs17655 |
| PheGenI | rs17655 |
| Biobank | rs17655 |
| 1000 genomes | rs17655 |
| hgdp | rs17655 |
| ensembl | rs17655 |
| geneview | rs17655 |
| scholar | rs17655 |
| rs17655 | |
| pharmgkb | rs17655 |
| gwascentral | rs17655 |
| openSNP | rs17655 |
| 23andMe | rs17655 |
| SNPshot | rs17655 |
| SNPdbe | rs17655 |
| MSV3d | rs17655 |
| GWAS Ctlg | rs17655 |
| GMAF | 0.3774 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20150366
] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma
[PMID 21426550] The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development
[PMID 21435719] Impact on response and survival of DNA repair single nucleotide polymorphisms in relapsed or refractory multiple myeloma patients treated with thalidomide
[PMID 21826087] Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy
[PMID 16026601] Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.
[PMID 16094634] Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus.
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 16857995] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 17299578] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 18709642] Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.
[PMID 18711149] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.
[PMID 18767034] Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.
[PMID 18838045] Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype.
[PMID 18854777] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
[PMID 18990748] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
[PMID 19029193] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
[PMID 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 19270000] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
[PMID 19318434] Associations between polymorphisms in DNA repair genes and glioblastoma.
[PMID 19661089] Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China.
[PMID 20141440] Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.
[PMID 21561390] Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.
[PMID 23335232] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx
[PMID 24353624] XPG is a novel biomarker of clinical outcome in 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
| ClinVar | |
|---|---|
| Risk | rs17655(G;G) |
| Alt | rs17655(G;G) |
| Reference | Rs17655(C;C) |
| Significance | Other |
| Disease | not specified Xeroderma pigmentosum |
| Variation | info |
| Gene | BIVM-ERCC5 ERCC5 |
| CLNDBN | not specified Xeroderma pigmentosum |
| Reversed | 1 |
| HGVS | NC_000013.10:g.103528002G>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000116992.4, RCV000326603.1, |
[PMID 26264164] A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors
[PMID 26436406] Genetic variability of genes involved in DNA repair influence treatment outcome in osteosarcoma
[PMID 26843108] A Comprehensive Meta-analysis of Genetic Associations Between Key Polymorphic Loci in DNA Repair Genes and Glioma Risk.
[PMID 27235448] Haplotype and diplotype analyses of variation in ERCC5 transcription cis-regulation in normal bronchial epithelial cells.
[PMID 29506519] RNAseq analysis of bronchial epithelial cells to identify COPD-associated genes and SNPs.
[PMID 30123346] Polymorphisms in ERCC2 and ERCC5 and Risk of Prostate Cancer: A Meta-Analysis and Systematic Review.
[PMID 30588297] Overall survival of classical Hodgkins lymphoma in Saudi patients is affected by XPG repair gene polymorphism.
