rs17617337

This is a intron variant variant in the BAG3 gene.

GWAS Catalog Trait Associations (10)

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

hypertrophic cardiomyopathy

Allele T
OR 0.40
p 3.0e-67
N 28,106
Large GWAS
European, African unspecified, Hispanic or Latin American, East Asian, South Asian, NR

natriuretic peptides B proteolytic cleavage product level

Allele T
OR 0.08
p 3.0e-39
N 47,745
Large GWAS
European

aspartate aminotransferase to alanine aminotransferase ratio

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 C
OR 0.04
p 1.0e-33
N 389,192
Major Consortium StudyLarge GWAS
European

natriuretic peptides B level

Allele T
OR 0.06
p 4.0e-21
N 47,745
Large GWAS
European

diastolic blood pressure change 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 C
OR 0.03
p 5.0e-21
N 425,743
Major Consortium StudyLarge 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 C
OR 0.03
p 7.0e-19
N 404,121
Major Consortium StudyLarge GWAS
European

creatine kinase 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 C
OR 0.05
p 3.0e-18
N 82,594
Major Consortium StudyLarge GWAS
European

heart failure

Allele T
OR 0.04
p 1.0e-17
N 2,358,556
Large GWAS
multi-ancestry
Allele T
OR 0.04
p 2.0e-14
N 1,665,481
Large GWAS
multi-ancestry
Allele T
OR 0.01
p 1.0e-12
N 1,366,492
Large GWAS
European
Allele T
OR 0.05
p 9.0e-14
N 1,279,610
Large GWAS
European
Allele T
OR 1.06
p 4.0e-9
N 977,323
Large GWAS
European

systolic heart failure

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 C
OR 0.08
p 2.0e-14
N 622,787
Major Consortium StudyLarge GWAS
multi-ancestry

diastolic blood pressure

Allele C
OR 0.17
p 3.0e-9
N 321,262
Large GWAS
multi-ancestry

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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