rs144590872

This is a intron variant variant in the AK8 gene.

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GWAS Catalog Trait Associations (6)

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

cadherin-5 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.37
p 6.0e-31
N 47,745
Large GWAS
European

serpin I2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.27
p 1.0e-23
N 47,745
Large GWAS
European

level of tyrosine-protein kinase receptor Tie-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 G
OR 0.25
p 1.0e-14
N 47,745
Large GWAS
European

angiopoietin-1 receptor measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.22
p 7.0e-12
N 47,745
Large GWAS
European

endoglin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.22
p 9.0e-12
N 47,745
Large GWAS
European

About AK8

Enables AMP binding activity and nucleobase-containing compound kinase activity. Predicted to be involved in nucleoside monophosphate phosphorylation. Predicted to act upstream of or within ventricular system development. Located in 9+2 motile cilium. [provided by Alliance of Genome Resources, Apr 2025]

View all AK8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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