rs138607350

This is a intron variant variant in the NECTIN2 gene.

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GWAS Catalog Trait Associations (9)

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

Alzheimer disease, family history of Alzheimer’s disease

Jansen IE et al. “Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.” Nature Genetics 51(3):404-413 (2019)
Allele G
OR 17.06
p 3.0e-65
N 455,258
Meta-analysisLarge GWAS
European
Willett JDS et al. “Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 21(2):e14592 (2025)
Allele G
OR —
p 2.0e-23
N 404,467
Large GWAS
multi-ancestry

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.19
p 9.0e-47
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

C-reactive protein measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.18
p 8.0e-42
N 355,127
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.17
p 7.0e-37
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.16
p 8.0e-36
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry

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 G
OR 2.66
p 6.0e-14
N 14,895
Large GWAS
European
Willett JDS et al. “Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses.” Alzheimer's & Dementia : the Journal of the Alzheimer's Association 21(2):e14592 (2025)
Allele G
OR —
p 3.0e-10
N 27,907
Large GWAS
European, African unspecified, Hispanic or Latin American, Asian unspecified, NR
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 G
OR 2.73
p 3.0e-8
N 8,682
Large GWAS
European

triglyceride measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele G
OR 0.09
p 1.0e-11
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry

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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