rs3117582

This is a regulatory region variant variant in the BAG6 gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

sarcoidosis

Rivera NV et al. “High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.” American Journal of Respiratory and Critical Care Medicine 193(9):1008-22 (2016)
Allele C
OR —
p 1.0e-30
N 1,048
Large GWAS
European

lung adenocarcinoma

Landi MT et al. “A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.” American Journal of Human Genetics 85(5):679-91 (2009)
Allele C
OR 1.22
p 5.0e-12
N 11,587
Large GWAS
European

Inguinal hernia

Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)
Allele T
OR 1.11
p 3.0e-10
N 275,546
Major Consortium StudyLarge GWAS
European

lung carcinoma

Wang Y et al. “Common 5p15.33 and 6p21.33 variants influence lung cancer risk.” Nature Genetics 40(12):1407-9 (2008)
Allele C
OR 1.24
p 5.0e-10
N 10,295
Large GWAS
European
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Research that mentions this SNP (2)

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Susceptibility to large‐joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6
ReviewGodfrey E. Etokebe et al.(2015)· Journal of Orthopaedic Research

This is a comprehensive review of 11 mammalian terminal nucleotidyl transferases (TENTs), including non-canonical poly(A) polymerases (ncPAPs) and terminal uridyl transferases (TUTases). The review discusses their diverse functions in RNA metabolism, including mRNA stability, miRNA regulation, and decay mechanisms. Notable genetic associations highlighted include the FAM46A (TENT5A) VNTR polymorphism in the second exon with large-joint osteoarthritis susceptibility (rs3117582 in BAG6 also associated).

Traits studied:AutismCancerDyskeratosis congenitaEnamel formationLarge-joint osteoarthritisLupus nephritisMultiple myelomaObesityOsteogenesis imperfectaRNA degradationRNA metabolismRetinitis pigmentosaSpastic ataxia with optic atrophymRNA stabilitymiRNA regulation
PubMedDOIMetascience Observatory
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Hierarchical modeling identifies novel lung cancer susceptibility variants in inflammation pathways among 10,140 cases and 11,012 controls
AssociationN=21,152Darren R. Brenner et al.(2013)· Human Genetics

Two-stage GWAS of 10,140 lung cancer cases and 11,012 controls in inflammation pathways using hierarchical modeling identified one novel locus at rs2741354 in EPHX2 (p=7.4×10⁻⁶), and confirmed associations with TERT (rs2736100) and HLA region variants. Hierarchical modeling incorporating prior biological knowledge identified 32 replicated variants not captured by conventional maximum likelihood analysis.

Traits studied:Lung cancer
PubMedDOIMetascience Observatory

About BAG6

This gene was first characterized as part of a cluster of genes located within the human major histocompatibility complex class III region. This gene encodes a nuclear protein that is cleaved by caspase 3 and is implicated in the control of apoptosis. In addition, the protein forms a complex with E1A binding protein p300 and is required for the acetylation of p53 in response to DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all BAG6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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