rs3753683
This is a intron variant variant in the KYAT3 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cerebrospinal fluid composition attribute, 2-hydroxy-4-(methylthio)butanoic acid measurement
Wang C et al. “Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.” Nature Genetics 56(12):2685-2695 (2024)
Allele C
OR 0.08
p 4.0e-49
N 2,311
Large GWAS
European
imidazole lactate 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 0.18
p 5.0e-28
N 4,912
Large GWAS
European
cerebrospinal fluid composition attribute, imidazole lactate measurement
Wang C et al. “Genetic architecture of cerebrospinal fluid and brain metabolite levels and the genetic colocalization of metabolites with human traits.” Nature Genetics 56(12):2685-2695 (2024)
Allele C
OR 0.05
p 5.0e-21
N 2,311
Large GWAS
European
About KYAT3
This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid, which is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Mar 2017]
View all KYAT3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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