rs211644

This is a intron variant variant in the ARSL gene.

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GWAS Catalog Trait Associations (5)

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

X-12707 measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele C
OR 0.16
p 5.0e-28
N 6,136
Large GWAS
European

X-12847 measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele C
OR 0.12
p 3.0e-14
N 6,136
Large GWAS
European

4-vinylphenol sulfate measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele C
OR —
β 0.090
p 9.0e-12
N 6,136
Large GWAS
European

2-hydroxyfluorene sulfate measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele C
OR 0.12
p 2.0e-11
N 6,136
Large GWAS
European

sex hormone-binding globulin measurement

Ruth KS et al. “Using human genetics to understand the disease impacts of testosterone in men and women.” Nature Medicine 26(2):252-258 (2020)
Allele C
OR 0.01
p 7.0e-11
N 180,094
Large GWAS
European

About ARSL

Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]

View all ARSL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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