rs3088215

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.

taste liking measurement

Allele C
OR 0.10
p 7.0e-14
N 159,393
Large GWAS
European

ClinVar annotation

Benign★★★
3 submitters1 publication

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…