rs7059259

This is a regulatory region variant variant in the PLXNB3 gene.

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GWAS Catalog Trait Associations (1)

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

pyruvate measurement

Nemkov T et al. “Biological and genetic determinants of glycolysis: Phosphofructokinase isoforms boost energy status of stored red blood cells and transfusion outcomes.” Cell Metabolism 36(9):1979-1997.e13 (2024)

Allele A

OR 0.28

p 2.0e-16

N 11,334

Large GWAS

multi-ancestry

About PLXNB3

The protein encoded by this gene is a member of the plexin family. It functions as a receptor for semaphorin 5A, and plays a role in axon guidance, invasive growth and cell migration. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

View all PLXNB3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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