rs181181625

This is a protein-altering variant in the RNF111 gene.

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GWAS Catalog Trait Associations (4)

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

level of Phosphatidylethanolamine (16:0_20:4) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele T
OR 1.05
p 2.0e-22
N 4,642
Large GWAS
European

level of Phosphatidylethanolamine (18:0_20:4) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele T
OR 0.96
p 3.0e-19
N 4,642
Large GWAS
European

level of Phosphatidylethanolamine (18:1_18:1) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele T
OR 0.74
p 9.0e-12
N 4,642
Large GWAS
European

level of phosphatidylethanolamine

Tabassum R et al. “Genetic architecture of human plasma lipidome and its link to cardiovascular disease.” Nature Communications 10(1):4329 (2019)
Allele T
OR 0.71
p 2.0e-9
N 2,045
Large GWAS
European

About RNF111

The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]

View all RNF111 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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