rs12609548

This variant is located in the APBA3 gene.

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GWAS Catalog Trait Associations (2)

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

serum alanine aminotransferase amount

Ghouse J et al. “Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.” Nature Genetics 56(5):827-837 (2024)

Allele T

OR 0.00

p 1.0e-12

N 1,010,710

Large GWAS

European

glomerular filtration rate

Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)

Allele A

OR 5.57

p 3.0e-8

N 1,508,659

Large GWAS

multi-ancestry

About APBA3

The protein encoded by this gene is a member of the X11 protein family. It is an adapter protein that interacts with the Alzheimer's disease amyloid precursor protein. This gene product is believed to be involved in signal transduction processes. This gene is a candidate gene for Alzheimer's disease. [provided by RefSeq, Jul 2008]

View all APBA3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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