Variant "COL1A1:rs1800012"
Search result: 1 record
Variant information
Gene:
COL1A1 
Variant:
COL1A1:rs1800012 
dbSNP ID:
rs1800012  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Hypertrophic Cardiomyopathy (DOID_11984)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    For noncarriers of polymorphic col1a1 allele [HR=2.76, 95% CI: (1.26-6.05), P=0.011] and a trend in homozygous carriers of adrb1 arg389 variant [HR=1.98, 95% CI:(1.99-4.02); P=0.057] 
    Effect:
    COL1A1 polymorphism (2046G>T) is an independent predictor of prognosis in HCM patients supporting the importance of nonsarcomeric genes on clinical prognosis in HCM.
    Reference:
    PMID26608562
    Title:
    Clinical implications of nonsarcomeric gene polymorphisms in hypertrophic cardiomyopathy.
    Species studied:
    Human
    Abstract:
    Hypertrophic cardiomyopathy (HCM) is characterized by cardiomyocyte hypertrophy and fibrosis. Although is an autosomal dominant trait, a group of nonsarcomeric genes have been postulated as modifiers of the phenotypic heterogeneity.