rs382416

This is a intron variant variant in the ANKRD27 gene.

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GWAS Catalog Trait Associations (1)

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

glomerular filtration rate

Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)

Allele A

OR 7.25

p 4.0e-13

N 1,508,659

Large GWAS

multi-ancestry

About ANKRD27

Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in endocytic recycling and negative regulation of SNARE complex assembly. Acts upstream of or within early endosome to late endosome transport. Located in several cellular components, including cytosol; endosome; and lysosome. Implicated in eosinophilic esophagitis. [provided by Alliance of Genome Resources, Jul 2025]

View all ANKRD27 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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