rs6831280
This is a variant in the IDUA gene that changes a alanine 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
Medina-Gomez C et al. “Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.” American Journal of Human Genetics 102(1):88-102 (2018)
Allele A
OR —
β 0.080
p 8.0e-19
N 66,945
Meta-analysisLarge GWAS
multi-ancestry
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter3 publicationsAbout 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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