rs11000728

This variant is located in the SYNPO2L gene.

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GWAS Catalog Trait Associations (2)

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

heart failure

Henry A et al. “Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes.” Nature Genetics 57(4):815-828 (2025)

Allele C

OR 0.09

p 5.0e-16

N 1,353,617

Meta-analysisLarge GWAS

multi-ancestry

left ventricular structural measurement

Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)

Allele C

OR 0.03

p 7.0e-9

N 36,056

Large GWAS

European, NR

About SYNPO2L

Predicted to enable actin binding activity. Predicted to be involved in several processes, including positive regulation of Rho protein signal transduction; positive regulation of stress fiber assembly; and sarcomere organization. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in Z disc; actin cytoskeleton; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

View all SYNPO2L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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