rs138373837
This variant is located in the NADK2 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
pyruvate measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.10
p 3.0e-45
N 450,015
Large GWAS
multi-ancestry
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele T
OR 0.09
p 1.0e-10
N 114,749
Large GWAS
European
lysine in blood amount
Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele T
OR 9.95
p 3.0e-23
N 30,982
Large GWAS
European
alanine measurement
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele C
OR 0.10
p 1.0e-12
N 115,078
Large GWAS
European
Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)
Allele C
OR 0.09
p 2.0e-11
N 117,944
Large GWAS
European
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele C
OR 0.10
p 1.0e-12
N 88,325
Large GWAS
European
serum creatinine amount, 3-aminoisobutyrate measurement
Valo E et al. “Genome-wide characterization of 54 urinary metabolites reveals molecular impact of kidney function.” Nature Communications 16(1):325 (2025)
Allele T
OR 0.46
p 2.0e-12
N 6,347
Large GWAS
European
metabolite measurement
Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele T
OR 0.21
p 3.0e-10
N 14,296
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
4 submitters2 publicationsnot specified; Progressive encephalopathy with leukodystrophy due to DECR deficiency; not provided
View on ClinVar →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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…