rs12053868
This is a intron variant variant in the IL1RAP gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
amyloid plaque accumulation rate
Ramanan VK et al. “GWAS of longitudinal amyloid accumulation on 18F-florbetapir PET in Alzheimer's disease implicates microglial activation gene IL1RAP.” Brain : a Journal of Neurology 138(Pt 10):3076-88 (2015)
Allele G
OR 0.84
p 1.0e-9
N 495
Small GWAS
European
About IL1RAP
This gene encodes a component of the interleukin 1 receptor complex, which initiates signalling events that result in the activation of interleukin 1-responsive genes. Alternative splicing of this gene results in membrane-bound and soluble isoforms differing in their C-terminus. The ratio of soluble to membrane-bound forms increases during acute-phase induction or stress. [provided by RefSeq, Jul 2018]
View all IL1RAP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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