rs1722462
This variant is located in the DHTKD1 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.
1-ribosyl-imidazoleacetate measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele C
OR 0.17
p 4.0e-12
N 8,809
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
8 submitters2 publications2-aminoadipic 2-oxoadipic aciduria; not specified; Charcot-Marie-Tooth disease axonal type 2Q; not provided
View on ClinVar →About DHTKD1
This gene encodes a component of a mitochondrial 2-oxoglutarate-dehydrogenase-complex-like protein involved in the degradation pathways of several amino acids, including lysine. Mutations in this gene are associated with 2-aminoadipic 2-oxoadipic aciduria and Charcot-Marie-Tooth Disease Type 2Q. [provided by RefSeq, May 2013]
View all DHTKD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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