rs368205955
This variant is located in the BBOF1 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.
photoreceptor cell layer thickness measurement
Currant H et al. “Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.” Plos Genetics 19(2):e1010587 (2023)
Allele G
OR 3.19
p 4.0e-46
N 31,135
Large GWAS
European
About BBOF1
Predicted to be involved in sperm axoneme assembly. Predicted to act upstream of or within several processes, including cilium movement involved in cell motility; negative regulation of microtubule depolymerization; and protein stabilization. Predicted to be located in axoneme; ciliary basal body; and sperm flagellum. [provided by Alliance of Genome Resources, Jul 2025]
View all BBOF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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