rs35143646

This variant is located in the ARSL gene.

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GWAS Catalog Trait Associations (3)

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

low density lipoprotein cholesterol measurement

Klimentidis YC et al. “Phenotypic and Genetic Characterization of Lower LDL Cholesterol and Increased Type 2 Diabetes Risk in the UK Biobank.” Diabetes 69(10):2194-2205 (2020)
Allele C
OR 0.02
p 2.0e-25
N 431,167
Major Consortium StudyLarge GWAS
European
Kanoni S et al. “Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.” Genome Biology 23(1):268 (2022)
Allele C
OR 0.02
p 2.0e-10
N 562,410
Meta-analysisLarge GWAS
multi-ancestry

total cholesterol measurement

Kanoni S et al. “Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.” Genome Biology 23(1):268 (2022)
Allele T
OR 0.02
p 1.0e-11
N 562,410
Meta-analysisLarge GWAS
multi-ancestry

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 T
OR 0.01
p 4.0e-9
N 189,473
Large GWAS
European
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ClinVar annotation

Benign★★★☆
8 submitters3 publications

not specified; not provided; X-linked chondrodysplasia punctata 1; Chondrodysplasia punctata, brachytelephalangic, autosomal

View on ClinVar →

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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