rs12907646
This variant is located in the ALPK3 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 2.0e-11
N 32,528
Large GWAS
European
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout ALPK3
Predicted to enable ATP binding activity; protein serine kinase activity; and protein serine/threonine kinase activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in nucleus. Implicated in hypertrophic cardiomyopathy 27. [provided by Alliance of Genome Resources, Jul 2025]
View all ALPK3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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