rs10103355

This is a variant in the ASAH1 gene that changes a valine to an alanine.

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GWAS Catalog Trait Associations (1)

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

metabolite measurement

Tahir UA et al. “Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.” Nature Communications 13(1):4923 (2022)
Allele G
OR 0.49
p 4.0e-62
N 2,466
Large GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
11 submitters3 publications

Farber lipogranulomatosis (FRBRL); Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; not specified

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About ASAH1

This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]

View all ASAH1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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