rs519113

This variant is located in the NECTIN2 gene.

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GWAS Catalog Trait Associations (8)

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

Alzheimer disease

Miyashita A et al. “SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.” Plos One 8(4):e58618 (2013)
Allele G
OR 2.09
p 5.0e-39
N 1,735
Large GWAS
multi-ancestry

basal cell adhesion molecule amount

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.05
p 4.0e-22
N 47,745
Large GWAS
European

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele G
OR —
p 6.0e-18
N 110,346
Large GWAS
European
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Research that mentions this SNP (1)

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Haplotype architecture of the Alzheimer's risk in the APOE region via co‐skewness
AssociationN=19,123Alexander M. Kulminski et al.(2020)· Alzheimer's &amp; Dementia: Diagnosis, Assessment &amp; Disease Monitoring

This study examined 4960 SNP triples from five genes in the APOE region (BCAM, NECTIN2, TOMM40, APOE, APOC1) in 2789 Alzheimer's disease cases and 16,334 controls using a novel co-skewness metric to identify complex haplotypes associated with AD. The authors identified 1127 significant AD-associated SNP triples, demonstrating that complex multi-SNP haplotypes—which may not include the canonical APOE ε4 or ε2 alleles—play definitive roles in AD predisposition, with the ε4 allele showing strengthened connections to other region alleles and ε2 showing weakened connections in affected subjects.

Traits studied:Alzheimer's disease
PubMedDOIMetascience Observatory

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]

View all NECTIN2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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