rs13281892

This is a intron variant variant in the SLC7A2 gene.

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GWAS Catalog Trait Associations (1)

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

glutamine measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)

Allele A

OR 0.03

p 4.0e-15

N 131,686

Large GWAS

multi-ancestry

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)

Allele A

OR 6.66

p 3.0e-11

N 85,821

Large GWAS

European

About SLC7A2

The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

View all SLC7A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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