rs147991290
This is a intron variant variant in the SYNJ1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Alzheimer disease, age at onset
Herold C et al. “Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.” Molecular Psychiatry 21(11):1608-1612 (2016)
Allele T
OR 5.94
p 3.0e-9
N 4,527
Large GWAS
European
About SYNJ1
This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
View all SYNJ1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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