rs1048302

This variant is located in the HSPB7 gene.

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GWAS Catalog Trait Associations (1)

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

hypertrophic cardiomyopathy

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 T

OR 0.27

p 1.0e-39

N 28,106

Large GWAS

European, African unspecified, Hispanic or Latin American, East Asian, South Asian, NR

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 T

OR 0.28

p 3.0e-17

N 50,266

Large GWAS

multi-ancestry

About HSPB7

This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma. [provided by RefSeq, Mar 2017]

View all HSPB7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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