rs72842207

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.

diastolic blood pressure

Allele T
OR 0.21
p 7.0e-31
N 1,028,980
Large GWAS
multi-ancestry
Allele T
OR 0.02
p 2.0e-21
N 1,212,859
Large GWAS
European
Allele T
OR 0.02
p 1.0e-9
N 928,679
Large GWAS
multi-ancestry
Plotnikov D et al. High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study. Investigative Ophthalmology & Visual Science 63(6):29 (2022)
Allele T
OR 0.21
p 6.0e-17
N 526,001
Large GWAS
European

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 C
OR 0.14
p 3.0e-28
N 439,014
Major Consortium StudyLarge GWAS
European

dilated cardiomyopathy

Allele T
OR 0.19
p 3.0e-25
N 955,733
Large GWAS
multi-ancestry

body height

Allele C
OR 0.02
p 4.0e-24
N 405,540
Large GWAS
European

level of heat shock protein beta-6 in blood serum

Allele T
OR 0.05
p 5.0e-18
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 0.03
p 2.0e-17
N 561,715
Major Consortium StudyLarge GWAS
multi-ancestry

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 1.0e-15
N 119,185
Major Consortium StudyLarge GWAS
multi-ancestry

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 2.0e-15
N 404,121
Major Consortium StudyLarge GWAS
European

cardiovascular measurement

Allele C
OR 0.04
p 7.0e-13
N 77,183
Large GWAS
European

systolic blood pressure

Allele T
OR 0.01
p 1.0e-8
N 1,212,859
Large GWAS
European

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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