rs12423627
This is a intron variant variant in the CFAP54 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.
skin microbiome measurement
Moitinho-Silva L et al. “Host genetic factors related to innate immunity, environmental sensing and cellular functions are associated with human skin microbiota.” Nature Communications 13(1):6204 (2022)
Allele T
OR 0.65
p 7.0e-9
N 597
Small GWAS
European
About CFAP54
Predicted to be involved in cilium assembly; cilium movement involved in cell motility; and spermatogenesis. Predicted to act upstream of or within epithelial cilium movement involved in extracellular fluid movement; establishment of localization in cell; and sperm flagellum assembly. Predicted to be located in axoneme. [provided by Alliance of Genome Resources, Jul 2025]
View all CFAP54 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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