rs1052373

This variant is located in the MYBPC3 gene.

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GWAS Catalog Trait Associations (9)

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

high density lipoprotein cholesterol measurement

Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele C
OR 0.04
p 1.0e-106
N 403,943
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.05
p 4.0e-72
N 325,634
Major Consortium StudyLarge GWAS
multi-ancestry

apolipoprotein A 1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.04
p 4.0e-43
N 323,833
Major Consortium StudyLarge GWAS
multi-ancestry

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele C
OR 0.01
p 3.0e-28
N 405,540
Large GWAS
European

IGF-1 measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 4.0e-27
N 353,824
Major Consortium StudyLarge GWAS
multi-ancestry

C-reactive protein measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 7.0e-21
N 355,127
Major Consortium StudyLarge GWAS
multi-ancestry

triglyceride measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 2.0e-19
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry

glucose measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 6.0e-15
N 325,386
Major Consortium StudyLarge GWAS
multi-ancestry

HbA1c measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 6.0e-11
N 338,919
Major Consortium StudyLarge GWAS
multi-ancestry

cystatin C measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 2.0e-9
N 355,752
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
18 submitters3 publications

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

View on ClinVar →
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Research that mentions this SNP (1)

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Unexpectedly low mutation rates in beta‐myosin heavy chain and cardiac myosin binding protein genes in italian patients with hypertrophic cardiomyopathy
FunctionalN=125Roberta Roncarati et al.(2011)· Journal of Cellular Physiology

A genetic screening study of 125 Italian hypertrophic cardiomyopathy patients examined mutations in MYH7 and MYBPC3 genes using DHPLC and sequencing. The study found low mutation frequencies compared to published reports: 6 MYH7 mutations (7.2%) including novel variants N444S, M932K, D1652Y, and S1491C, and 18 MYBPC3 mutations (15.2%) including novel variants and splicing-site alterations. The study emphasizes the genetic complexity of HCM and the heterogeneity of disease-causing variants in these cardiac genes.

Traits studied:Atrial fibrillationHeart failureHypertrophic cardiomyopathyLeft ventricular hypertrophyNon-sustained ventricular tachycardiaSudden cardiac deathSyncope
PubMedDOIMetascience Observatory

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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