rs4715561

This is a downstream gene variant variant in the HMGCLL1 gene.

GWAS Catalog Trait Associations (1)

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

GDNF family receptor alpha-like 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 0.19
p 5.0e-38
N 10,708
Large GWAS
European

About HMGCLL1

Enables hydroxymethylglutaryl-CoA lyase activity. Involved in ketone body biosynthetic process. Located in several cellular components, including cytosol; endoplasmic reticulum; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all HMGCLL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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