Gene "TREM2"
Found 1 record
Gene information
Gene symbol:
TREM2
See related:
Ensembl: ENSG00000095970, Gene ID: 54209
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    TREM2:c.140G>A(p.Arg47His)
    Gene:
    TREM2
    Genomic location:
    chr6:41129252
    dbSNP ID:
    rs75932628
    Target disease:
    Alzheimer's Disease(DOID_10652)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=2.19; 95% CI: 1.04-4.51; P=0.03 
    Effect:
    We find p.R47H is a risk factor for AD, but not frontotemporal dementia or prion disease.
    Reference:
    PMID25160042
    Title:
    R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.
    Species studied:
    Human
    Abstract:
    Rare TREM2 variants are significant risk factors for Alzheimer's disease (AD).