rs238238

This is a variant in the ENO3 gene that changes a asparagine to an serine.

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GWAS Catalog Trait Associations (2)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele A

OR 0.32

p 6.0e-136

N 10,708

Large GWAS

European

level of beta-enolase in blood

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 0.08

p 3.0e-43

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

7 submitters2 publications

Glycogen storage disease due to muscle beta-enolase deficiency (GSD13); not specified

View on ClinVar →

About ENO3

This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]