Variant "AGTR1:c.1166C"
Search result: 1 record
Variant information
Gene:
AGTR1 
Variant:
AGTR1:c.1166C 
Genomic location:
chr3:148459988(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_004835.4:c.*86A>C
protein_coding NM_000685.4:c.*86A>C
protein_coding NM_009585.3:c.*86A>C
protein_coding NM_031850.3:c.*86A>C
protein_coding NM_032049.3:c.*86A>C
dbSNP ID:
rs5186  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Ventricular Hypertrophy (HP:0001714)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.015; OR=1.56; 95% CI: 1.09-2.23 
    Effect:
    The 1166 C AT1R allele could be a risk factor for cardiac hypertrophy in patients without sarcomeric mutations
    Reference:
    PMID20594303
    Title:
    Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy: AT1R as a potential modifier.
    Species studied:
    Human
    Abstract:
    Angiotensin and serotonin have been identified as inducers of cardiac hypertrophy. DNA polymorphisms at the genes encoding components of the angiotensin and serotonin systems have been associated with the risk of developing cardiovascular diseases, including left ventricular hypertrophy (LVH).