rs10262453
This is a regulatory region 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.
isolated scaphocephaly
Justice CM et al. “A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9.” Nature Genetics 44(12):1360-4 (2012)
Allele A
OR 4.17
p 6.0e-20
N 130
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.
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