rs10112574
This is a downstream gene variant variant in the ADHFE1 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.
X-04499--3,4-dihydroxybutyrate-to-C-glycosyltryptophan ratio
Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR —
β 0.025
p 3.0e-14
N 4,942
Large GWAS
European
About ADHFE1
The ADHFE1 gene encodes hydroxyacid-oxoacid transhydrogenase (EC 1.1.99.24), which is responsible for the oxidation of 4-hydroxybutyrate in mammalian tissues (Kardon et al., 2006 [PubMed 16616524]).[supplied by OMIM, Mar 2008]
View all ADHFE1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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