rs146095444

This is a intron variant variant in the AKAP7 gene.

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GWAS Catalog Trait Associations (1)

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

peptic ulcer disease

He Y et al. “East Asian-specific and cross-ancestry genome-wide meta-analyses provide mechanistic insights into peptic ulcer disease.” Nature Genetics 55(12):2129-2138 (2023)

Allele T

OR 0.21

p 3.0e-8

N 957,376

Large GWAS

multi-ancestry

About AKAP7

This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]

View all AKAP7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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