rs72811294

This variant is located in the MYOCD gene.

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GWAS Catalog Trait Associations (1)

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

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele C
OR 0.08
p 6.0e-45
N 2,584,013
Large GWAS
multi-ancestry
Miyazawa K et al. “Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.” Nature Genetics 55(2):187-197 (2023)
Allele C
OR 0.08
p 1.0e-15
N 2,339,188
Large GWAS
multi-ancestry
Nielsen JB et al. “Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.” Nature Genetics 50(9):1234-1239 (2018)
Allele C
OR 1.07
p 1.0e-11
N 1,030,836
Large GWAS
European
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 C
OR 0.08
p 7.0e-17
N 622,007
Major Consortium StudyLarge GWAS
multi-ancestry
Roselli C et al. “Multi-ethnic genome-wide association study for atrial fibrillation.” Nature Genetics 50(9):1225-1233 (2018)
Allele C
OR 1.07
p 7.0e-9
N 588,190
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About MYOCD

This gene encodes a nuclear protein, which is expressed in heart, aorta, and in smooth muscle cell-containing tissues. It functions as a transcriptional co-activator of serum response factor (SRF) and modulates expression of cardiac and smooth muscle-specific SRF-target genes, and thus may play a crucial role in cardiogenesis and differentiation of the smooth muscle cell lineage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

View all MYOCD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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