rs1110060

This is a intron variant variant in the KIF7 gene.

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GWAS Catalog Trait Associations (1)

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

level of aminopeptidase N in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 3.0e-14
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
10 submitters2 publications

Acrocallosal syndrome (ACLS); Hydrolethalus syndrome 2 (HLS2); Multiple epiphyseal dysplasia, Al-Gazali type; not specified

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About KIF7

This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies. [provided by RefSeq, Oct 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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