rs138587229
This is a regulatory region variant variant 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.
Lewy body dementia
Mitsumori R et al. “A genome-wide association study identifies a novel East Asian-specific locus for dementia with Lewy bodies in Japanese subjects.” Molecular Medicine (cambridge, Mass.) 31(1):87 (2025)
Allele C
OR 3.72
p 3.0e-8
N 6,324
Large GWAS
East Asian
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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