rs2736201

This variant is located in the BAG6 gene.

GWAS Catalog Trait Associations (5)

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

mean reticulocyte volume

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.06
p 3.0e-71
N 408,112
Large GWAS
European

cadherin-1 measurement

Allele C
OR 0.06
p 4.0e-16
N 47,745
Large GWAS
European

white matter integrity

Allele C
OR 0.10
p 6.0e-12
N 20,860
Major Consortium StudyLarge GWAS
European

erythrocyte volume

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.04
p 7.0e-12
N 408,112
Large GWAS
European

serum creatinine amount

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele A
OR 0.04
p 1.0e-9
N 136,016
Large GWAS
multi-ancestry

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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