Gene "KCNJ2"
Found 1 record
Gene information
Gene symbol:
KCNJ2
See related:
Ensembl: ENSG00000123700, Gene ID: 3759
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Variant 1:
    KCNJ2:rs17779747
    Gene:
    KCNJ2
    Genomic location:
    dbSNP ID:
    rs17779747
    Target disease:
    Long QT Syndrome(DOID_2843)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    From review article 
    Effect:
    Protective effect
    Reference:
    PMID23856471
    Title:
    Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.
    Species studied:
    Human
    Abstract:
    Long-QT syndrome (LQTS) is characterized by such striking clinical heterogeneity that, even among family members carrying the same mutation, clinical outcome can range between sudden death and no symptoms. We investigated the role of genetic variants as modifiers of risk for cardiac events in patients with LQTS.