rs2247341

This is a synonymous variant in the SLBP gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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

body height

Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)

Allele A

OR —

β 0.025

p 2.0e-11

N 133,653

Large GWAS

European

BMI-adjusted hip circumference

Shungin D et al. “New genetic loci link adipose and insulin biology to body fat distribution.” Nature 518(7538):187-196 (2015)

Allele A

OR 0.02

p 6.0e-10

N 143,480

Large GWAS

multi-ancestry

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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 & 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

PubMed DOI Metascience Observatory

About SLBP

This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucleolytic cleavage. The stem-loop structure is essential for efficient processing but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is regulated during the cell cycle, increasing more than 10-fold during the latter part of G1. [provided by RefSeq, Jul 2008]