rs41264869

This variant is located in the CNTN2 gene.

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GWAS Catalog Trait Associations (2)

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

protein measurement

Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)

Allele T

OR 0.80

p 2.0e-148

N 3,506

Large GWAS

European

contactin-2 measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)

Allele T

OR 0.39

p 4.0e-11

N 997

Small GWAS

multi-ancestry

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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