rs72975088
This is a intergenic variant variant in the HMGCLL1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
blood protein amount
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.24
p 5.0e-23
N 5,364
Large GWAS
European
GDNF family receptor alpha-like measurement
Allele T
OR 0.25
p 1.0e-12
N 3,301
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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