Gene "CDK5RAP2"
Found 2 records
Gene information
Gene symbol:
CDK5RAP2
See related:
Ensembl: ENSG00000136861, Gene ID: 55755
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
2 
Disorder:
1 
Vriant:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Risk factor(2)  
Details：
  • Variant 1:
    CDK5RAP2:n.121470375G>A
    Gene:
    CDK5RAP2
    Genomic location:
    chr9:121470375
    dbSNP ID:
    rs10984186
    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.
  • Variant 2:
    CDK5RAP2:c.5307+800T>A
    Gene:
    CDK5RAP2
    Genomic location:
    chr9:123164284
    dbSNP ID:
    rs4837766
    Target disease:
    Alzheimer's Disease(DOID_10652)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.048 
    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.