rs2856656

This is a downstream gene variant variant in the MYBPC3 gene.

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GWAS Catalog Trait Associations (1)

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

thrombin generation potential measurement

Rocanin-Arjo A et al. “A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential.” Blood 123(5):777-85 (2014)

Allele C

OR 0.19

p 5.0e-22

N 1,967

Meta-analysis

European

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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