rs3825751

This is a intron variant variant in the AKAP6 gene.

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GWAS Catalog Trait Associations (1)

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

PR interval

Ntalla I et al. “Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.” Nature Communications 11(1):2542 (2020)

Allele T

OR 0.54

p 3.0e-10

N 271,570

Large GWAS

European

About AKAP6

The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]

View all AKAP6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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