rs80133433

This is a downstream gene variant variant in the NSUN3 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

venous thromboembolism

Thibord F et al. “Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.” Circulation 146(16):1225-1242 (2022)

Allele A

OR 0.44

p 2.0e-16

N 137,457

Large GWAS

African unspecified

Thromboembolism

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 C

OR 0.40

p 5.0e-15

N 118,315

Major Consortium StudyLarge GWAS

African American or Afro-Caribbean

deep vein thrombosis

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 C

OR 0.45

p 2.0e-12

N 119,901

Major Consortium StudyLarge GWAS

African American or Afro-Caribbean

About NSUN3

Enables tRNA (cytidine-5-)-methyltransferase activity. Involved in regulation of mitochondrial translation and tRNA wobble base cytosine methylation. Located in mitochondrial matrix. Implicated in combined oxidative phosphorylation deficiency 48. [provided by Alliance of Genome Resources, Jul 2025]