Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Cys130Arg (p.C130R)
(
ENST00000252486.9 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 ) - Associated Disease
- Alzheimer Disease, Late Onset
- Source Database
- DisGeNET
- Description
- Two common single-nucleotide polymorphisms (SNPs) in APOE, rs429358 and rs7412, determine the three epsilon alleles that are established genetic risk factors for late-onset Alzheimer's disease (AD), cerebral amyloid angiopathy, and intracerebral hemorrhage (ICH).
- Pubmed
- 24448547
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0187294891735409
- Year of publication
- 2013
Drugs