Variant "CDK5RAP2:c.5307+800T>A"
Search result: 1 record
Variant information
Gene:
CDK5RAP2 
Variant:
CDK5RAP2:c.5307+800T>A 
Genomic location:
chr9:123164284(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_018249.5:c.5307+800T>A
protein_coding NM_001011649.2:c.5070+800T>A
protein_coding NM_001272039.1:c.4617+800T>A
pseudogene NR_073554.1:n.5574+800T>A
pseudogene NR_073555.1:n.5497+800T>A
pseudogene NR_073556.1:n.5706+800T>A
pseudogene NR_073557.1:n.5579+800T>A
pseudogene NR_073558.1:n.5576+800T>A
show all
dbSNP ID:
rs4837766  
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:
    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.