Variant "ALOX5AP:c.494+2385A>C"
Search result: 1 record
Variant information
Gene:
ALOX5AP 
Variant:
ALOX5AP:c.494+2385A>C 
Genomic location:
chr13:31332547(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001204406.1:c.494+2385A>C
protein_coding NM_001629.3:c.323+2385A>C
dbSNP ID:
rs9551963  
GWAS trait:
no data 
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:
    Hapb had a frequency of 6.9% and 8.2% in the group without and with chd, respectively, conferring a hazard ratio of 1.48 (95% ci 1.17-1.89, p=0.001) 
    Effect:
    The A allele of the rs9551963 polymorphism was associated with an increased risk of xanthomas, while the A allele of rs17222842 was protective.
    Reference:
    PMID18775537
    Title:
    Arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and coronary heart disease risk in familial hypercholesterolemia.
    Species studied:
    Human
    Abstract:
    To investigate the arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene as a potential modifier gene for coronary heart disease (CHD) in patients with familial hypercholesterolemia (FH).