rs78926127

This is a intron variant variant 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.

renin measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)

Allele A

OR 0.36

p 1.0e-19

N 21,758

Large GWAS

European

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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