rs10769254
This variant is located in the MYBPC3 gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
alcohol drinking, high density lipoprotein cholesterol measurement
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele C
OR —
p 5.0e-69
N 127,326
Large GWAS
multi-ancestry
C-reactive protein measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.03
p 1.0e-29
N 394,642
Large GWAS
European
body mass index
Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.01
p 2.0e-13
N 1,122,049
Large GWAS
European
triglyceride measurement, alcohol consumption quality
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele C
OR —
p 1.0e-8
N 71,394
Large GWAS
multi-ancestry
triglyceride measurement, alcohol drinking
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele C
OR —
p 2.0e-8
N 127,326
Large GWAS
multi-ancestry
alcohol consumption quality, high density lipoprotein cholesterol measurement
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele C
OR —
p 5.0e-28
N 71,394
Large GWAS
multi-ancestry
high density lipoprotein cholesterol measurement
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele C
OR —
β 0.013
p 2.0e-17
N 71,394
Large GWAS
multi-ancestry
▶ClinVar annotation
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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