rs11090865

This is a variant in the TRMU gene that changes a alanine to an serine.

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GWAS Catalog Trait Associations (3)

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

VLDL particle size

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 1.0e-11
N 450,015
Large GWAS
multi-ancestry

triglyceride measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 2.0e-11
N 450,015
Large GWAS
multi-ancestry
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 2.0e-10
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry

triglycerides in VLDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 9.0e-11
N 450,015
Large GWAS
multi-ancestry
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ClinVar annotation

Risk Factor★★★☆
13 submitters4 publications

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins; Aminoglycoside-induced deafness; Deafness, mitochondrial, modifier of; not specified

View on ClinVar →

About TRMU

This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

View all TRMU variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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