rs10896015
This is a regulatory region variant variant in the LTBP3 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
alkaline phosphatase measurement
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.01
p 1.0e-10
N 463,178
Large GWAS
multi-ancestry
osteoarthritis, hip
Styrkarsdottir U et al. “Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.” Nature Genetics 50(12):1681-1687 (2018)
Allele G
OR 1.09
p 8.0e-10
N 613,790
Meta-analysisLarge GWAS
European
Tachmazidou I et al. “Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data.” Nature Genetics 51(2):230-236 (2019)
Allele G
OR 1.08
p 3.0e-9
N 393,873
Major Consortium StudyLarge GWAS
European
About LTBP3
The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
View all LTBP3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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