rs6151423

This variant is located in the ARSA gene.

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GWAS Catalog Trait Associations (1)

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

arylsulfatase A measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.11

p 3.0e-13

N 47,745

Large GWAS

European

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ClinVar annotation

Likely Benign★★★☆

2 submitters1 publication

Metachromatic leukodystrophy; not provided

View on ClinVar →

About ARSA

The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]

View all ARSA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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