rs10471753

This is a regulatory region variant variant in the LOC105379011 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

cartilage thickness measurement

Castaño-Betancourt MC et al. “Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.” Plos Genetics 12(10):e1006260 (2016)
Allele C
OR 0.06
p 4.0e-9
N 13,013
Large GWAS
European
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Research that mentions this SNP (1)

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Involvement of different risk factors in clinically severe large joint osteoarthritis according to the presence of hand interphalangeal nodes
Meta-analysisN=21,240Ana M. Valdes et al.(2010)· Arthritis &amp; Rheumatism

Genome-wide meta-analysis of minimal joint space width (cartilage thickness proxy) in 21,240 participants identified four novel loci for cartilage thickness and osteoarthritis: TGFA (rs2862851, beta=-0.067), PIK3R1 (rs10471753, beta=0.062), FGFR3/SLBP (rs2236995, beta=0.049), and TREH/DDX6 (rs496547, beta=-0.058), plus two previously identified loci (DOT1L and RUNX2). This is the first report linking TGFA to human OA.

Traits studied:Cartilage thickness (minimal joint space width)Hip osteoarthritis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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