rs143083812
This variant is located in the SMO 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.
osteoarthritis, hip
Henkel C et al. “Genome-wide association meta-analysis of knee and hip osteoarthritis uncovers genetic differences between patients treated with joint replacement and patients without joint replacement.” Annals of the Rheumatic Diseases 82(3):384-392 (2023)
Allele T
OR 2.57
p 2.0e-14
N 646,831
Meta-analysisLarge GWAS
European
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 T
OR 2.84
p 8.0e-12
N 613,790
Meta-analysisLarge GWAS
European
total hip arthroplasty, osteoarthritis
Boer CG et al. “Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations.” Cell 184(18):4784-4818.e17 (2021)
Allele T
OR 3.30
p 1.0e-11
N 319,037
Large GWAS
European
▶ClinVar annotation
Uncertain Significance★☆☆☆
2 submitters2 publicationsnot specified; Congenital hypothalamic hamartoma syndrome
View on ClinVar →About SMO
The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]
View all SMO variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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