rs6564537
This is a intron variant variant in the WWOX gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hip geometry
▶Research that mentions this SNP (1)
▶Identification of Novel Loci Associated With Hip Shape: A Meta-Analysis of Genomewide Association StudiesMeta-analysisN=15,934Baird DA et al.(2019)· Journal of Bone and Mineral Research
A GWAS meta-analysis of 15,934 individuals identified 9 SNPs across 8 loci associated with hip shape phenotypes derived from DXA scans. Five SNPs were associated with hip shape mode 1 (HSM1) at genome-wide significance (p < 5×10⁻⁹), three with HSM2, and one with HSM5. Most loci were close to genes involved in endochondral bone formation (SOX9, PTHLH, FGFR4, NKX3-2, DICER1, RUNX1, HHIP) and also associated with height. Three SNPs showed associations with hip osteoarthritis and one with hip fracture risk.
About WWOX
This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
View all WWOX variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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