Variant "TOR1A:rs1801968"
Search results: 2 records
Variant information
Gene:
TOR1A 
Variant:
TOR1A:rs1801968 
dbSNP ID:
rs1801968  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
2 
Reference:
1 
Effect type:
Expressivity(2)  
Modifier effect:
Altered severity(1) ,Risk factor(1)  
Details：
  • Target disease:
    Autosomal Dominant Torsion Dystonia 1 (NCIT_C118780)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.001 
    Effect:
    The polymorphism is associated with the disease severity
    Reference:
    PMID18519876
    Title:
    Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism
    Species studied:
    Human
    Abstract:
    No data
  • Target disease:
    Early-onset generalized limb-onset dystonia (Orphanet_256)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.001 
    Effect:
    Modify Torsion dystonia phenotype
    Reference:
    PMID18519876
    Title:
    Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism
    Species studied:
    Human
    Abstract:
    No data