rs56121637

This variant is located in the RNF128 gene.

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GWAS Catalog Trait Associations (2)

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

serum creatinine amount

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.17
p 2.0e-95
N 494,370
Large GWAS
multi-ancestry
Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)
Allele T
OR 0.19
p 8.0e-20
N 69,591
Meta-analysisLarge GWAS
European

glomerular filtration rate

Graham SE et al. “Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.” Nature Communications 10(1):1847 (2019)
Allele T
OR 9.27
p 2.0e-20
N 350,514
Meta-analysisLarge GWAS
multi-ancestry
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ClinVar annotation

Benign★★★☆
2 submitters2 publications
View on ClinVar →

About RNF128

The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

View all RNF128 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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