rs72840788
This variant is located in the BAG3 gene.
▶GWAS Catalog Trait Associations (17)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (17)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
left ventricular systolic function measurement
Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)
Allele G
OR 0.83
p 9.0e-36
N 36,083
Large GWAS
European, NR
Schmidt AF et al. “Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity.” Science Advances 9(17):eadd4984 (2023)
Allele G
OR —
p 1.0e-26
N 32,528
Large GWAS
European
Tadros R et al. “Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.” Nature Genetics 53(2):128-134 (2021)
Allele G
OR 1.40
p 3.0e-18
N 19,260
Large GWAS
European
left ventricular ejection fraction measurement
Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)
Allele G
OR 0.62
p 2.0e-32
N 36,083
Large GWAS
European, NR
Schmidt AF et al. “Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity.” Science Advances 9(17):eadd4984 (2023)
Allele G
OR —
p 4.0e-25
N 32,532
Large GWAS
European
Tadros R et al. “Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.” Nature Genetics 53(2):128-134 (2021)
Allele G
OR 0.59
p 4.0e-18
N 19,260
Large GWAS
European
hypertrophic cardiomyopathy
Harper AR et al. “Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.” Nature Genetics 53(2):135-142 (2021)
Allele G
OR 0.42
p 5.0e-29
N 50,266
Large GWAS
multi-ancestry
dilated cardiomyopathy
Jurgens SJ et al. “Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience.” Nature Genetics 56(12):2636-2645 (2024)
Allele A
OR 0.19
p 4.0e-25
N 955,733
Large GWAS
multi-ancestry
right ventricular ejection fraction measurement
Schmidt AF et al. “Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity.” Science Advances 9(17):eadd4984 (2023)
Allele G
OR —
p 1.0e-22
N 35,875
Large GWAS
European
Aung N et al. “Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function.” Nature Genetics 54(6):783-791 (2022)
Allele G
OR 0.08
p 6.0e-22
N 29,488
Large GWAS
European
high density lipoprotein cholesterol measurement
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 G
OR 0.03
p 6.0e-19
N 404,121
Major Consortium StudyLarge GWAS
European
right ventricular systolic volume measurement
Schmidt AF et al. “Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity.” Science Advances 9(17):eadd4984 (2023)
Allele G
OR —
p 6.0e-19
N 35,928
Large GWAS
European
Aung N et al. “Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function.” Nature Genetics 54(6):783-791 (2022)
Allele G
OR 0.07
p 1.0e-16
N 29,498
Large GWAS
European
left ventricular diastolic function measurement
Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)
Allele G
OR 0.84
p 1.0e-13
N 36,083
Large GWAS
European, NR
Schmidt AF et al. “Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity.” Science Advances 9(17):eadd4984 (2023)
Allele G
OR —
p 3.0e-11
N 32,525
Large GWAS
European
heart failure
Henry A et al. “Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes.” Nature Genetics 57(4):815-828 (2025)
Allele A
OR 0.04
p 2.0e-12
N 1,968,806
Meta-analysisLarge GWAS
multi-ancestry
QRS duration
Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele A
OR 0.03
p 4.0e-12
N 60,343
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…