rs13874

This variant is located in the SLC25A26 gene.

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GWAS Catalog Trait Associations (2)

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

2,3-dihydroxy-5-methylthio-4-pentenoate (DMTPA) measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele T
OR 0.17
p 2.0e-21
N 6,136
Large GWAS
European
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.09
p 2.0e-11
N 8,225
Large GWAS
European

level of sulfite oxidase, mitochondrial 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 T
OR 0.04
p 4.0e-14
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★☆
5 submitters2 publications

not provided; Combined oxidative phosphorylation deficiency 28; not specified

View on ClinVar →

About SLC25A26

This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]

View all SLC25A26 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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