Variant "CDK5RAP2:n.121470375G>A"
Search result: 1 record
Variant information
Gene:
CDK5RAP2 
Variant:
CDK5RAP2:n.121470375G>A 
Genomic location:
chr9:121470375(hg19) 
HGVS:
SO Term RefSeq
TLR4-BRINP1:n.121470375G>A
dbSNP ID:
rs10984186  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Alzheimer's Disease (DOID_10652)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=1.426, P=4.23×10(-7) 
    Effect:
    Is associated with lower mild cognitive impairment/AD risk and conversion rate
    Reference:
    PMID29360470
    Title:
    CDK5RAP2 gene and tau pathophysiology in late-onset sporadic Alzheimer's disease.
    Species studied:
    Human
    Abstract:
    Because currently known Alzheimer's disease (AD) single-nucleotide polymorphisms only account for a small fraction of the genetic variance in this disease, there is a need to identify new variants associated with AD.