rs3803405
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 structural measurement
Ning C et al. “Genome-wide association analysis of left ventricular imaging-derived phenotypes identifies 72 risk loci and yields genetic insights into hypertrophic cardiomyopathy.” Nature Communications 14(1):7900 (2023)
Allele A
OR 0.07
p 2.0e-20
N 41,947
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
10 submitters2 publicationsnot specified; not provided; Cardiovascular phenotype; ALPK3-related disorder
View on ClinVar →About 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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