rs238239

This variant is located in the ENO3 gene.

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GWAS Catalog Trait Associations (1)

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

lymphocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)

Allele T

OR 0.02

p 4.0e-11

N 364,463

Major Consortium StudyLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

7 submitters2 publications

Glycogen storage disease due to muscle beta-enolase deficiency; not provided; 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]

View all ENO3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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