rs11248061

This variant is located in the IDUA gene.

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GWAS Catalog Trait Associations (8)

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

total lipids in HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 2.0e-18
N 450,015
Large GWAS
multi-ancestry

phospholipids in HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 4.0e-16
N 450,015
Large GWAS
multi-ancestry

free cholesterol in medium HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 2.0e-15
N 450,015
Large GWAS
multi-ancestry

cholesterol in medium HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 3.0e-14
N 450,015
Large GWAS
multi-ancestry

cholesteryl esters in medium HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 1.0e-13
N 450,015
Large GWAS
multi-ancestry

apolipoprotein A 1 measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 2.0e-13
N 450,015
Large GWAS
multi-ancestry

concentration of medium HDL particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 3.0e-12
N 450,015
Large GWAS
multi-ancestry

cerebral cortex area attribute

Grasby KL et al. “The genetic architecture of the human cerebral cortex.” Science (new York, N.y.) 367(6484) (2020)
Allele A
OR 6.73
p 2.0e-10
N 33,992
Large GWAS
European
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ClinVar annotation

Benign★★★★
13 submitters2 publications

not specified; Mucopolysaccharidosis type 1; not provided

View on ClinVar →

About IDUA

This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]

View all IDUA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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