rs112017743

This is a intron variant variant in the RNF123 gene.

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GWAS Catalog Trait Associations (1)

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

chronotype measurement

Jones SE et al. “Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms.” Nature Communications 10(1):343 (2019)

Allele C

OR 1.06

p 3.0e-18

N 403,195

Large GWAS

European

About RNF123

The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

View all RNF123 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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