rs2070458

This variant is located in the SMARCB1 gene.

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GWAS Catalog Trait Associations (8)

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

heart function attribute

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 T
OR 0.57
p 8.0e-9
N 19,260
Large GWAS
European

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 A
OR 0.32
p 6.0e-24
N 42,802
Large GWAS
European, African unspecified, Hispanic or Latin American, East Asian, South Asian, NR

left ventricular function

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 A
OR 0.45
p 3.0e-10
N 36,033
Large GWAS
European, NR

left ventricular structural measurement

Ning C et al. “Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy.” Nature Communications 14(1):7900 (2023)
Allele A
OR 0.05
p 4.0e-8
N 41,984
Large GWAS
European
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 A
OR 0.07
p 2.0e-10
N 36,203
Large GWAS
European, NR
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 A
OR 0.04
p 4.0e-10
N 19,260
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →

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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