rs3812629

This is a protein-altering variant 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.

systolic blood pressure

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.02

p 1.0e-13

N 394,642

Large GWAS

European

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-8

N 32,530

Large GWAS

European

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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