rs4951165

This variant is located in the CNTN2 gene.

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GWAS Catalog Trait Associations (1)

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

neurofascin measurement

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 0.10
p 1.0e-14
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters2 publications

Epilepsy, familial adult myoclonic, 5; not provided

View on ClinVar →

About CNTN2

This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]

View all CNTN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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