rs148673350

This variant is located in the BBS9 gene.

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GWAS Catalog Trait Associations (1)

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

calvaria morphology trait

Goovaerts S et al. “Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.” Nature Communications 14(1):7436 (2023)

Allele C

OR —

p 7.0e-15

N 6,772

Large GWAS

multi-ancestry

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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