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rs17655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs17655(C;G)
Make rs17655(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position102875652
GeneBIVM-ERCC5, ERCC5
is asnp
is mentioned by
dbSNPrs17655
ebirs17655
HLIrs17655
Exacrs17655
Varsomers17655
Maprs17655
PheGenIrs17655
hapmaprs17655
1000 genomesrs17655
hgdprs17655
ensemblrs17655
gopubmedrs17655
geneviewrs17655
scholarrs17655
googlers17655
pharmgkbrs17655
gwascentralrs17655
openSNPrs17655
23andMers17655
23andMe allrs17655
SNP Nexus

SNPshotrs17655
SNPdbers17655
MSV3drs17655
GWAS Ctlgrs17655
GMAF0.3774
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene ERCC5
allele C
frequency 0.267
sift TOLERATED
HuRef 1103649319953
Disease Association Defects in ERCC5 are a cause of Cockayne syndrome (CS) (MIM:216400). CS is an autosomal recessive disease which is characterized by a UV-sensitive skin (without pigmentation abnormalities), neurological dysfunction due to demyelination of neurons and calcification of basal ganglia (psychomotor retardation, deafness, optic atrophy, retinal pigmentation and hyperreflexes), and dysmorphic dwarfism (immature sexual development and microcephaly).



Neighborrs9514067
Distance72
[PMID 20150366OA-icon.png] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma


[PMID 21426550OA-icon.png] 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 21826087OA-icon.png] Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy


[PMID 16026601OA-icon.png] 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 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.


[PMID 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.


[PMID 17299578OA-icon.png] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.


[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.


[PMID 18701435OA-icon.png] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.


[PMID 18709642OA-icon.png] Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.


[PMID 18711149OA-icon.png] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.


[PMID 18767034OA-icon.png] 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 18854777OA-icon.png] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.


[PMID 18990748OA-icon.png] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.


[PMID 19029193OA-icon.png] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.


[PMID 19124499OA-icon.png] Association and interactions between DNA repair gene polymorphisms and adult glioma.


[PMID 19270000OA-icon.png] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.


[PMID 19318434OA-icon.png] Associations between polymorphisms in DNA repair genes and glioblastoma.


[PMID 19661089OA-icon.png] Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China.


[PMID 20141440OA-icon.png] 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 23335232OA-icon.png] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx


[PMID 24353624OA-icon.png] 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 Probable-non-pathogenic
Disease not specified
Variation info
Gene BIVM-ERCC5 ERCC5
CLNDBN not specified
Reversed 1
HGVS NC_000013.10:g.103528002G>C
CLNSRC ClinVar University of Chicago
CLNACC RCV000116992.3,



[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.