rs366577

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.

type 2 diabetes mellitus

Vujkovic M et al. “Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.” Nature Genetics 52(7):680-691 (2020)

Allele C

OR 0.02

p 4.0e-8

N 1,407,282

Meta-analysisLarge GWAS

multi-ancestry

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter1 publication

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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