rs4788099
This is a upstream gene variant variant 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.
body fat percentage
Lu Y et al. “New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.” Nature Communications 7:10495 (2016)
Allele G
OR 0.03
p 1.0e-8
N 78,525
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
5 submitters2 publicationsCombined oxidative phosphorylation defect type 4
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…