rs76048788
This is a downstream gene variant variant in the IDUA gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
spine bone mineral density
Qian 钱雨 Y et al. “Genome-wide Association Studies of over 30,000 Samples with Bone Mineral Density at Multiple Skeletal Sites and Its Clinical Relevance.” Genomics, Proteomics & Bioinformatics 23(5) (2025)
Allele T
OR 0.07
p 2.0e-8
N 31,986
Large GWAS
European
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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