rs7764016

This variant is located in the HEY2 gene.

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GWAS Catalog Trait Associations (2)

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

cerebral cortex area attribute

Grasby KL et al. “The genetic architecture of the human cerebral cortex.” Science (new York, N.y.) 367(6484) (2020)
Allele T
OR 7.29
p 6.0e-13
N 33,992
Large GWAS
European

body weight

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 0.03
p 1.0e-15
N 609,198
Major Consortium StudyLarge GWAS
multi-ancestry

About HEY2

This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The encoded protein forms homo- or hetero-dimers that localize to the nucleus and interact with a histone deacetylase complex to repress transcription. Expression of this gene is induced by the Notch signal transduction pathway. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

View all HEY2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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