rs5760054

This is a intron variant variant in the SMARCB1 gene.

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GWAS Catalog Trait Associations (7)

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 C
OR 0.32
p 5.0e-42
N 28,106
Large GWAS
European, African unspecified, Hispanic or Latin American, East Asian, South Asian, NR

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 0.08
p 3.0e-12
N 616,393
Major Consortium StudyLarge 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 T
OR —
β 0.098
p 1.0e-8
N 955,733
Large GWAS
multi-ancestry

About SMARCB1

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

View all SMARCB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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