Variant "TREM2:c.140G>A(p.Arg47His)"
Search result: 1 record
Variant information
Gene:
TREM2 
Variant:
TREM2:c.140G>A(p.Arg47His) 
Genomic location:
chr6:41129252(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_018965.3:c.140G>A(p.Arg47His)
protein_coding NM_001271821.1:c.140G>A(p.Arg47His)
dbSNP ID:
rs75932628  
GWAS trait:
late-onset Alzheimers disease,Alzheimer's disease 
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=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).