rs4723276
This is a intron variant variant in the BBS9 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.
metopic craniosynostosis
Justice CM et al. “A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.” Human Genetics 139(8):1077-1090 (2020)
Allele C
OR 1.72
p 3.0e-8
N 215
Small GWAS
European
About BBS9
This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]
View all BBS9 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…