rs4976511

This is a intron variant variant in the SLC25A48 gene.

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GWAS Catalog Trait Associations (1)

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

choline measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)

Allele T

OR 0.12

p 2.0e-11

N 4,912

Large GWAS

European

About SLC25A48

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in mitochondrial inner membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC25A48 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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