Variant "ACE2:n.-2943A>G"
Search result: 1 record
Variant information
Gene:
ACE2 
Variant:
ACE2:n.-2943A>G 
Genomic location:
chrX:15618061(hg19) 
HGVS:
SO Term RefSeq
pseudogene NR_126564.1:n.-2943A>G
protein_coding NM_021804.2:c.186+788T>C
dbSNP ID:
rs2106809  
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:
    OR=1.34, 95% CI: 1.01 - 1.77, P=0.04; 
    Effect:
    The T allele of rs2106809 and C allele of rs6632677 conferred increasing risk for HCM
    Reference:
    PMID18208662
    Title:
    Polymorphisms of angiotensin-converting enzyme 2 gene associated with magnitude of left ventricular hypertrophy in male patients with hypertrophic cardiomyopathy.
    Species studied:
    Human
    Abstract:
    Even carrying an identical gene mutation, inter- and intra-family variations have been noticed worldwide in the presence and the severity of left ventricular hypertrophy and sudden death in patients with hypertrophic cardiomyopathy (HCM). Modifier genes may contribute to the diversity. Angiotensin-converting enzyme 2 (ACE2) gene has been established to be associated with parameters of left ventricular hypertrophy in community based male subjects. The objective of the present study was to investigate the association of ACE2 gene polymorphisms with the phenotype of HCM.