rs74717771
This variant is located in the NADK2 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.
glutarylcarnitine (C5-DC) measurement
Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele C
OR 0.10
p 9.0e-11
N 8,238
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout NADK2
This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
View all NADK2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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