rs9480534

This is a intron variant variant in the PLEKHG1 gene.

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GWAS Catalog Trait Associations (2)

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

epithelial cell adhesion molecule 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 0.09

p 2.0e-31

N 47,745

Large GWAS

European

low density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele G

OR 0.02

p 2.0e-9

N 1,320,016

Large GWAS

European

About PLEKHG1

Predicted to enable guanyl-nucleotide exchange factor activity and small GTPase binding activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all PLEKHG1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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