rs536642077

This variant is located in the HHAT gene.

GWAS Catalog Trait Associations (1)

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

nervous system disease

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 C
OR 2.83
p 3.0e-12
N 624,176
Major Consortium StudyLarge GWAS
multi-ancestry

About HHAT

'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]

View all HHAT variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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