rs548987
This is a intron variant variant in the SLC17A3 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
homocysteine measurement
van Meurs JB et al. “Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.” The American Journal of Clinical Nutrition 98(3):668-76 (2013)
Allele C
OR 0.06
p 1.0e-8
N 44,147
Large GWAS
European
About SLC17A3
The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]
View all SLC17A3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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