rs7988498

This is a intron variant variant in the PCDH9 gene.

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GWAS Catalog Trait Associations (2)

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

smoking initiation

Saunders GRB et al. “Genetic diversity fuels gene discovery for tobacco and alcohol use.” Nature 612(7941):720-724 (2022)
Allele T
OR 0.01
p 2.0e-42
N 3,382,012
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

major depressive disorder

Als TD et al. “Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses.” Nature Medicine 29(7):1832-1844 (2023)
Allele C
OR 0.02
p 2.0e-11
N 1,349,887
Large GWAS
European

About PCDH9

This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

View all PCDH9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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