rs17683430

This is a variant in the SLC5A1 gene that changes a alanine to an threonine.

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GWAS Catalog Trait Associations (1)

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

glucose-dependent insulinotropic peptide measurement, glucose tolerance test

Almgren P et al. “Genetic determinants of circulating GIP and GLP-1 concentrations.” Jci Insight 2(21) (2017)

Allele A

OR 0.12

p 3.0e-18

N 3,344

Large GWAS

European

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ClinVar annotation

Benign★★★☆

5 submitters3 publications

Congenital glucose-galactose malabsorption (GGM); not specified

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About SLC5A1

This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

View all SLC5A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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