rs2302455

This variant is located in the MYO1C gene.

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GWAS Catalog Trait Associations (2)

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

left ventricular diastolic function measurement

Schmidt AF et al. “Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity.” Science Advances 9(17):eadd4984 (2023)

Allele G

OR —

p 3.0e-9

N 32,525

Large GWAS

European

left ventricular systolic function measurement

Schmidt AF et al. “Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity.” Science Advances 9(17):eadd4984 (2023)

Allele G

OR —

p 6.0e-9

N 32,528

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

About MYO1C

This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. The mouse ortholog of this protein also functions in intracellular vesicle transport to the plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. The related gene myosin IE has been referred to as myosin IC in the literature, but it is a distinct locus on chromosome 19. [provided by RefSeq, Jul 2008]