rs295268

This is a intron variant variant in the GKAP1 gene.

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GWAS Catalog Trait Associations (2)

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

chronotype measurement

Jones SE et al. “Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms.” Nature Communications 10(1):343 (2019)

Allele C

OR 1.03

p 2.0e-10

N 449,734

Large GWAS

European

fatty acid amount

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele T

OR 0.03

p 7.0e-10

N 115,006

Large GWAS

European

About GKAP1

This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

View all GKAP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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