rs1286083
This is a intron variant variant in the RPS6KA5 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
bone fracture
Trajanoska K et al. “Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study.” Bmj (clinical Research Ed.) 362:k3225 (2018)
Allele T
OR 1.05
p 2.0e-17
N 264,973
Large GWAS
multi-ancestry
femoral neck bone mineral density
Estrada K et al. “Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.” Nature Genetics 44(5):491-501 (2012)
Allele T
OR —
β 0.050
p 2.0e-15
N 32,961
Meta-analysisLarge GWAS
multi-ancestry
pelvis bone mineral density
Qian 钱雨 Y et al. “Genome-wide Association Studies of over 30,000 Samples with Bone Mineral Density at Multiple Skeletal Sites and Its Clinical Relevance.” Genomics, Proteomics & Bioinformatics 23(5) (2025)
Allele C
OR 0.09
p 2.0e-15
N 31,873
Large GWAS
European
trunk bone mineral density
Qian 钱雨 Y et al. “Genome-wide Association Studies of over 30,000 Samples with Bone Mineral Density at Multiple Skeletal Sites and Its Clinical Relevance.” Genomics, Proteomics & Bioinformatics 23(5) (2025)
Allele C
OR 0.06
p 3.0e-9
N 31,986
Large GWAS
European
About RPS6KA5
Enables ATP binding activity and protein kinase activity. Involved in several processes, including interleukin-1-mediated signaling pathway; protein modification process; and regulation of DNA-templated transcription. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2025]
View all RPS6KA5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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