{{Rsnum
|rsid=17655
|Gene=ERCC5
|Chromosome=13
|position=102875652
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.3774
|Gene_s=BIVM-ERCC5,ERCC5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 52.3 | 40.0 | 7.7
| HCB | 26.7 | 57.8 | 15.6
| JPT | 20.5 | 54.5 | 25.0
| YRI | 20.6 | 50.8 | 28.6
| ASW | 0.0 | 0.0 | 0.0
| CHB | 26.7 | 57.8 | 15.6
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=17655
|allele=C
|frequency=0.267
|uid=1103649319953
|type=heterozygous_SNP
|hugo=ERCC5
|ensembl gene=ENSG00000134899
|ensembl transcript=ENST00000375971
|sift=TOLERATED
|disease=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).
}}

{{ neighbor
| rsid = 9514067
| distance = 72
}}

{{PMID Auto
|PMID=20150366
|Title=DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma
|OA=1
}}

{{PMID Auto
|PMID=21426550
|Title=The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development
|OA=1
}}

{{PMID Auto
|PMID=21435719
|Title=Impact on response and survival of DNA repair single nucleotide polymorphisms in relapsed or refractory multiple myeloma patients treated with thalidomide
}}

{{PMID Auto
|PMID=21826087
|Title=Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy
|OA=1
}}

{{PMID Auto
|PMID=16026601
|Title=Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.
|OA=1
}}

{{PMID Auto
|PMID=16094634
|Title=Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus.
}}

{{PMID Auto
|PMID=16465622
|Title=Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
|OA=1
}}

{{PMID Auto
|PMID=16857995
|Title=Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
|OA=1
}}

{{PMID Auto
|PMID=17299578
|Title=Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
|OA=1
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=18701435
|Title=Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18709642
|Title=Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.
|OA=1
}}

{{PMID Auto
|PMID=18711149
|Title=Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.
|OA=1
}}

{{PMID Auto
|PMID=18767034
|Title=Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.
|OA=1
}}

{{PMID Auto
|PMID=18838045
|Title=Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype.
}}

{{PMID Auto
|PMID=18854777
|Title=Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=18990748
|Title=International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
|OA=1
}}

{{PMID Auto
|PMID=19029193
|Title=Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=19124499
|Title=Association and interactions between DNA repair gene polymorphisms and adult glioma.
|OA=1
}}

{{PMID Auto
|PMID=19270000
|Title=Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
|OA=1
}}

{{PMID Auto
|PMID=19318434
|Title=Associations between polymorphisms in DNA repair genes and glioblastoma.
|OA=1
}}

{{PMID Auto
|PMID=19661089
|Title=Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China.
|OA=1
}}

{{PMID Auto
|PMID=20141440
|Title=Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.
|OA=1
}}

{{PMID Auto
|PMID=21561390
|Title=Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.
}}

{{PMID Auto
|PMID=23335232
|Title=Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx
}}

{{PMID Auto
|PMID=24353624
|Title=XPG is a novel biomarker of clinical outcome in advanced non-small-cell lung cancer
|OA=1
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}