rs11542257
This variant is located in the TUFM gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of apolipoprotein B receptor in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.30
p 6.0e-15
N 47,745
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
6 submitters2 publicationsnot specified; Combined oxidative phosphorylation defect type 4; not provided
View on ClinVar →About TUFM
This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
View all TUFM variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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