Variant "APOC3:c.IVS3+1G>T"
Search results: 3 records
Variant information
Gene:
APOC3 
Variant:
APOC3:c.IVS3+1G>T 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
3 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(3)  
Modifier effect:
Altered circulating level(1) ,Altered triglyceride level(1) ,Risk factor(1)  
Details：
  • Target disease:
    Coronary Artery Disease (DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.60; 95% CI: 0.47 to 0.75; P=4×10(-6) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Target disease:
    Coronary Artery Disease (DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered circulating level 
    Evidence:
    P=8×10(-10) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Target disease:
    Coronary Artery Disease (DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered triglyceride level 
    Evidence:
    P<1×10(-20) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.