rs478839

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GWAS Catalog Trait Associations (3)

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

eosinophil count

Höglund J et al. “Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count.” Frontiers in Immunology 13:862255 (2022)
Allele G
OR 0.03
p 4.0e-15
N 365,954
Large GWAS
European

proteoglycan 3 measurement

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 0.04
p 1.0e-14
N 47,745
Large GWAS
European

red blood cell density

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR —
p 4.0e-16
N 727,624
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Tau phosphorylation pathway genes and cerebrospinal fluid tau levels in Alzheimer's disease
AssociationN=270Lynn M. Bekris et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This candidate gene association study examined 18 SNPs in tau phosphorylation pathway genes (kinases and phosphatases) in relation to cerebrospinal fluid (CSF) tau levels in 101 Alzheimer's disease (AD) patients and 169 cognitively normal controls. Two SNPs significantly correlated with CSF tau levels after multiple comparison correction: rs7768046 in the FYN kinase gene (associated with increased CSF t-tau in AD, P=0.0007 Holm-corrected) and rs913275 in the PPP2R4 phosphatase gene (associated with increased CSF p-tau and t-tau in AD, P=0.0024 Holm-corrected). These findings suggest that genetic variation in genes regulating tau phosphorylation influences CSF tau levels in an AD-associated manner.

Traits studied:Alzheimer's diseaseCerebrospinal fluid phosphorylated tau levelsCerebrospinal fluid total tau levels
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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