rs56044734
This is a coding sequence variant variant in the HAPLN4 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.
Abnormality of the skeletal system
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 3.0e-22
N 394,642
Large GWAS
European
About HAPLN4
Predicted to be a structural constituent of synapse-associated extracellular matrix. Predicted to be involved in GABAergic synaptic transmission; nervous system development; and skeletal system development. Predicted to be located in extracellular region. Predicted to be active in extracellular space; perineuronal net; and synapse. [provided by Alliance of Genome Resources, Jul 2025]
View all HAPLN4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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