rs2333041
This variant is located in the HEG1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
protein HEG homolog 1 measurement
Suhre K et al. “A genome-wide association study of mass spectrometry proteomics using a nanoparticle enrichment platform.” Nature Genetics 57(12):2987-2996 (2025)
Allele C
OR 0.96
p 4.0e-287
N 1,253
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout HEG1
Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of Genome Resources, Jul 2025]
View all HEG1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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