rs6151412

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

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)

Allele A

OR 0.72

p 3.0e-12

N 2,935

Large GWAS

Greater Middle Eastern (Middle Eastern, North African or Persian)

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ClinVar annotation

Benign★★★☆

12 submitters3 publications

not specified; Metachromatic leukodystrophy; not provided; Citrullinemia

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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