rs11162351

This variant is located in the AK5 gene.

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GWAS Catalog Trait Associations (3)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele G
OR 0.02
p 3.0e-25
N 1,122,049
Large GWAS
European

albuminuria

Haas ME et al. “Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.” American Journal of Human Genetics 103(4):461-473 (2018)
Allele C
OR 0.01
p 2.0e-8
N 382,500
Large GWAS
European

urinary albumin to creatinine ratio

Casanova F et al. “A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio.” Human Molecular Genetics 28(24):4197-4207 (2019)
Allele C
OR 0.01
p 3.0e-8
N 437,027
Large GWAS
European

About AK5

This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

View all AK5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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