rs3729989

This variant is located in the MYBPC3 gene.

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GWAS Catalog Trait Associations (3)

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

left ventricular mass index

Khurshid S et al. “Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.” Nature Communications 14(1):1558 (2023)
Allele T
OR 0.61
p 2.0e-8
N 43,230
Large GWAS
multi-ancestry

left ventricular mass

Khurshid S et al. “Clinical and genetic associations of deep learning-derived cardiac magnetic resonance-based left ventricular mass.” Nature Communications 14(1):1558 (2023)
Allele T
OR 1.32
p 3.0e-8
N 43,230
Large GWAS
multi-ancestry

electrocardiography

Verweij N et al. “The Genetic Makeup of the Electrocardiogram.” Cell Systems 11(3):229-238.e5 (2020)
Allele T
OR 0.05
p 6.0e-10
N 63,706
Major Consortium StudyLarge GWAS
European, NR
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ClinVar annotation

Likely Benign★★★☆
22 submitters8 publications

not specified; Hypertrophic cardiomyopathy; Cardiovascular phenotype; Left ventricular noncompaction 10; Hypertrophic cardiomyopathy 4; Cardiomyopathy; not provided

View on ClinVar →

About MYBPC3

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]

View all MYBPC3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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