rs3743713

This variant is located in the TK2 gene.

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GWAS Catalog Trait Associations (1)

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

gut microbiome measurement, allergen exposure measurement

Stickley SA et al. “Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy.” The Journal of Allergy and Clinical Immunology 156(2):433-448 (2025)

Allele T

OR 0.13

p 2.0e-12

N 693

Small GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

not provided; Mitochondrial disease

View on ClinVar →

About TK2

This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]

View all TK2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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