rs2275697

This is a variant in the CNTN2 gene that changes a alanine to an threonine.

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GWAS Catalog Trait Associations (1)

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

contactin-2 measurement

Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)

Allele A

OR 0.88

p 1.0e-24

N 466

Small GWAS

African American or Afro-Caribbean

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ClinVar annotation

Benign★☆☆☆

2 submitters2 publications

Epilepsy, familial adult myoclonic, 5 (EPEO5)

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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