rs7639267
This is a regulatory region variant variant in the NT5DC2 gene.
▶GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (4)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
sortilin measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 2.0e-26
N 47,745
Large GWAS
European
level of Kazal-type serine protease inhibitor domain-containing protein 1 in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.05
p 1.0e-20
N 47,745
Large GWAS
European
fatty acid amount
Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele G
OR —
p 4.0e-8
N 128,922
Large GWAS
European
body mass index
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 G
OR 0.03
p 1.0e-19
N 607,387
Major Consortium StudyLarge GWAS
multi-ancestry
About NT5DC2
Predicted to enable 5'-nucleotidase activity. Predicted to be involved in negative regulation of dopamine biosynthetic process; negative regulation of oxidoreductase activity; and negative regulation of peptidyl-serine phosphorylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
View all NT5DC2 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…