rs2254240

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.

systolic blood pressure

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 G
OR 0.04
p 1.0e-30
N 425,740
Major Consortium StudyLarge GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.02
p 3.0e-18
N 485,664
Large GWAS
multi-ancestry

pulse pressure measurement

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele A
OR 0.23
p 4.0e-14
N 459,777
Large GWAS
multi-ancestry

hypertension, Antihypertensive use measurement

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 G
OR 0.05
p 3.0e-13
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

not provided; Acute myeloid leukemia; Uterine carcinosarcoma

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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