rs3799344

This is a intron variant variant in the SLC17A1 gene.

▶

GWAS Catalog Trait Associations (2)

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

X-15486 measurement

Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)

Allele T

OR 0.21

p 1.0e-43

N 8,809

Large GWAS

European

metabolite 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 0.17

p 1.0e-14

N 4,665

Large GWAS

European

▶

Research that mentions this SNP (1)

▶

A genome wide association study of plasma uric acid levels in obese cases and never‐overweight controls

AssociationN=961Li WD et al.(2013)· Obesity

A genome-wide association study of 961 individuals (520 obese cases BMI>35, 440 normal-weight controls BMI<25) identified two loci reaching genome-wide significance for plasma uric acid levels: SLC2A9 (rs6449213, P=3.15×10⁻¹²) and DIP2C (rs877282, P=4.56×10⁻⁸). Five additional genes (F5, PXDNL, FRAS1, LCORL, MICAL2) showed weaker associations (P<1×10⁻⁵), and three previously identified uric acid genes (ABCG2, SLC17A1, RREB1) received marginal support.

Traits studied:HyperuricemiaPlasma uric acid levels

PubMed DOI Metascience Observatory

About SLC17A1

Predicted to enable transmembrane transporter activity. Involved in sodium-dependent phosphate transport; urate metabolic process; and urate transport. Located in apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]