rs544430008

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.

multinodular goiter

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 2.72
p 3.0e-12
N 572,777
Major Consortium StudyLarge GWAS
multi-ancestry

About 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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