rs779294348

This is a variant in the PLXNA1 gene that changes a arginine to an tryptophan.

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GWAS Catalog Trait Associations (1)

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

phosphorus measurement

Choe EK et al. “Leveraging deep phenotyping from health check-up cohort with 10,000 Korean individuals for phenome-wide association study of 136 traits.” Scientific Reports 12(1):1930 (2022)

Allele T

OR —

β 0.049

p 2.0e-8

N 9,662

Large GWAS

East Asian

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ClinVar annotation

Uncertain significance

View on ClinVar →

About PLXNA1

Predicted to enable semaphorin receptor activity. Predicted to be involved in several processes, including T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell; nervous system development; and semaphorin-plexin signaling pathway. Predicted to act upstream of or within dichotomous subdivision of terminal units involved in salivary gland branching; neuron projection extension; and regulation of smooth muscle cell migration. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all PLXNA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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