rs3755955
This is a variant in the IDUA gene that changes a arginine to an proline.
▶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.
bone tissue density
Estrada K et al. “Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.” Nature Genetics 44(5):491-501 (2012)
Allele A
OR —
β 0.060
p 5.0e-15
N 32,961
Meta-analysisLarge GWAS
multi-ancestry
Medina-Gomez C et al. “Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.” Communications Biology 6(1):691 (2023)
Allele A
OR —
β 0.062
p 1.0e-10
N 43,832
Large GWAS
European
▶ClinVar annotation
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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