rs368042471

This variant is located in the ADK gene.

GWAS Catalog Trait Associations (1)

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

Alzheimer disease, family history of Alzheimer’s disease

Willett JDS et al. Identification of 16 novel Alzheimer's disease loci using multi-ancestry meta-analyses. Alzheimer's & Dementia : the Journal of the Alzheimer's Association 21(2):e14592 (2025)
Allele A
OR
p 4.0e-11
N 404,467
Large GWAS
multi-ancestry

About ADK

This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the cardiovascular, nervous, respiratory, and immune systems and inhibitors of the enzyme could play an important pharmacological role in increasing intravascular adenosine concentrations and acting as anti-inflammatory agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

View all ADK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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