Variant "PCSK9:c.137G>T (p.Arg46Leu)"
Search result: 1 record
Variant information
Gene:
PCSK9 
Variant:
PCSK9:c.137G>T (p.Arg46Leu) 
Genomic location:
chr1:55505647(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_174936.3:c.137G>T(p.Arg46Leu)
pseudogene NR_110451.1:n.-248G>T
dbSNP ID:
rs11591147  
GWAS trait:
coronary artery disease,total cholesterol measurement,lipoprotein measurement,blood metabolite measurement,response to statin,LDL cholesterol change measurement,low density lipoprotein cholesterol measurement,PCSK9 protein measurement,cardiovascular disease,osteoarthritis knee 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Coronary Artery Disease (DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    HR=0.5, 95% CI: 0.32 to 0.79; P=0.003 
    Effect:
    The hazard ratio for CHD among PCSK946L carriers relative to noncarriers, after ad justment for age and sex, was 0.5 (95 percent confidence interval, 0.32 to 0.79; P=0.003).
    Reference:
    PMID16554528
    Title:
    Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.
    Species studied:
    Human
    Abstract:
    A low plasma level of low-density lipoprotein (LDL) cholesterol is associated with reduced risk of coronary heart disease (CHD), but the effect of lifelong reductions in plasma LDL cholesterol is not known. We examined the effect of DNA-sequence variations that reduce plasma levels of LDL cholesterol on the incidence of coronary events in a large population.