rs12460876

This variant is located in the SLC7A9 gene.

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GWAS Catalog Trait Associations (5)

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

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 C
OR 0.21
p 7.0e-26
N 4,911
Large GWAS
European

lysine in blood amount

Calvo-Serra B et al. “Urinary metabolite quantitative trait loci in children and their interaction with dietary factors.” Human Molecular Genetics 29(23):3830-3844 (2021)
Allele C
OR 0.48
p 4.0e-25
N 996
Small GWAS
European

urinary metabolite measurement

Li Y et al. “Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.” Journal of the American Society of Nephrology : Jasn 29(5):1513-1524 (2018)
Allele C
OR 0.42
p 2.0e-23
N 1,143
Large GWAS
European
Schlosser P et al. “Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.” Nature Genetics 52(2):167-176 (2020)
Allele C
OR 0.65
p 2.0e-23
N 1,221
Large GWAS

chronic kidney disease, serum creatinine amount

Köttgen A et al. “New loci associated with kidney function and chronic kidney disease.” Nature Genetics 42(5):376-84 (2010)
Allele C
OR 0.01
p 3.0e-15
N 67,093
Large GWAS
European

About SLC7A9

This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]

View all SLC7A9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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