rs2234962

This is a variant in the BAG3 gene that changes a cysteine to an arginine.

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GWAS Catalog Trait Associations (19)

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

cardiomyopathy

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.14
p 3.0e-26
N 439,612
Major Consortium StudyLarge GWAS
European

myoglobin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 3.0e-20
N 47,745
Large GWAS
European

myosin-binding protein C, slow-type measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 1.0e-16
N 47,745
Large GWAS
European

HDL particle size

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 3.0e-15
N 450,015
Large GWAS
multi-ancestry

level of myosin light chain 3 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 4.0e-15
N 47,745
Large GWAS
European

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele T
OR 0.01
p 1.0e-14
N 405,979
Large GWAS
European

fatty acid-binding protein, heart measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.05
p 3.0e-13
N 47,745
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
17 submitters5 publications

Cardiovascular phenotype; Dilated cardiomyopathy 1HH (CMD1HH); Myofibrillar myopathy 6; not specified

View on ClinVar →

About BAG3

BAG proteins compete with Hip for binding to the Hsc70/Hsp70 ATPase domain and promote substrate release. All the BAG proteins have an approximately 45-amino acid BAG domain near the C terminus but differ markedly in their N-terminal regions. The protein encoded by this gene contains a WW domain in the N-terminal region and a BAG domain in the C-terminal region. The BAG domains of BAG1, BAG2, and BAG3 interact specifically with the Hsc70 ATPase domain in vitro and in mammalian cells. All 3 proteins bind with high affinity to the ATPase domain of Hsc70 and inhibit its chaperone activity in a Hip-repressible manner. [provided by RefSeq, Jul 2008]

View all BAG3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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