rs16946539

This is a intron variant variant 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.

QRS duration

Swenson BR et al. “GWAS of QRS duration identifies new loci specific to Hispanic/Latino populations.” Plos One 14(6):e0217796 (2019)

Allele T

OR 1.28

p 2.0e-9

N 15,124

Large GWAS

Hispanic or Latin American

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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