rs4803764

This is a intron variant variant in the NECTIN2 gene.

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GWAS Catalog Trait Associations (2)

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

Alzheimer disease

Lo MT et al. “Identification of genetic heterogeneity of Alzheimer's disease across age.” Neurobiology of Aging 84:243.e1-243.e9 (2019)
Allele C
OR 1.52
p 1.0e-34
N 14,895
Large GWAS
European
Wang H et al. “Similar Genetic Architecture of Alzheimer's Disease and Differential APOE Effect Between Sexes.” Frontiers in Aging Neuroscience 13:674318 (2021)
Allele C
OR 1.47
p 6.0e-17
N 8,682
Large GWAS
European

body mass index

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.01
p 1.0e-8
N 694,649
Large GWAS
European

About NECTIN2

This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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