rs7508

This is a 3 prime utr variant variant in the ASAH1 gene.

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GWAS Catalog Trait Associations (2)

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

triglyceride measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele A
OR 0.02
p 5.0e-8
N 361,194
Large GWAS
European

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele A
OR 0.06
p 1.0e-48
N 1,840,341
Large GWAS
European
Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele A
OR 1.07
p 1.0e-44
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.01
p 2.0e-20
N 1,486,094
Large GWAS
European
Nielsen JB et al. “Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.” Nature Genetics 50(9):1234-1239 (2018)
Allele A
OR 1.07
p 2.0e-21
N 1,030,836
Large GWAS
European
Cárcel-Márquez J et al. “A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.” Frontiers in Cardiovascular Medicine 9:940696 (2022)
Allele A
OR 0.01
p 1.0e-20
N 1,030,836
Large GWAS
European
Roselli C et al. “Multi-ethnic genome-wide association study for atrial fibrillation.” Nature Genetics 50(9):1225-1233 (2018)
Allele A
OR 1.07
p 2.0e-19
N 588,190
Large GWAS
multi-ancestry
Christophersen IE et al. “Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.” Nature Genetics 49(6):946-952 (2017)
Allele A
OR 1.10
p 6.0e-10
N 118,755
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

Farber lipogranulomatosis (FRBRL)

View on ClinVar →

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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