rs9858213

This is a upstream gene variant variant in the RNF123 gene.

GWAS Catalog Trait Associations (3)

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

level of 60S ribosomal protein L26-like 1 in blood serum

Allele T
OR 0.99
p 8.0e-26
N 198
Small GWAS
European

sorting nexin-1 measurement

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.10
p 1.0e-12
N 10,708
Large GWAS
European

self reported educational attainment

Rietveld CA et al. Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. Proceedings of the National Academy of Sciences of the United States of America 111(38):13790-4 (2014)
Allele T
OR
β 0.028
p 5.0e-9
N 106,736
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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