rs9954741

This is a downstream gene variant variant in the RIOK3 gene.

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GWAS Catalog Trait Associations (1)

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

body height, body weights and measures

Galván-Femenía I et al. “Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.” Journal of Medical Genetics 55(11):765-778 (2018)

Allele C

OR 0.01

p 1.0e-13

N 4,988

Large GWAS

European

About RIOK3

This gene was first identified by the similarity of its product to the Aspergillus nidulans SUDD protein. This gene is now recognized as a member of the right open reading frame (RIO) kinase gene family. This gene encodes a serine/threonine kinase that localizes to the cytoplasm and plays a role in the processing of the pre-40 S ribosomal subunit. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]

View all RIOK3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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