Variant "CRHR1:c.-96-1309A>C"
Search result: 1 record
Variant information
Gene:
CRHR1 
Variant:
CRHR1:c.-96-1309A>C 
Genomic location:
chr17:43892520(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001303016.1.2:c.-96-1309A>C
protein_coding NM_001145146.1:c.122-1309A>C
protein_coding NM_001256299.2:c.-404-1309A>C
protein_coding NM_001145147.1:c.122-6201A>C
protein_coding NM_001145148.1:c.122-1309A>C
protein_coding NM_001303018.1.2:c.-199+8057A>C
protein_coding NM_001303020.1:c.-96-1309A>C
protein_coding NM_004382.4.2:c.122-1309A>C
show all
dbSNP ID:
rs242941  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered response to corticosteroid(1)  
Detail：
  • Target disease:
    Asthma (DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to corticosteroid 
    Evidence:
    From review article 
    Effect:
    Mutations in CRHR1 is Associated with corticosteroid response
    Reference:
    PMID22455494
    Title:
    Genetic basis for personalized medicine in asthma.
    Species studied:
    Human
    Abstract:
    There is heterogeneity in patient responses to current asthma medications. Significant progress has been made identifying genetic polymorphisms that influence the efficacy and potential for adverse effects to asthma drugs, including; β(2)-adrenergic receptor agonists, corticosteroids and leukotriene modifiers. Pharmacogenetics holds great promise to maximise clinical outcomes and minimize adverse effects. Asthma is heterogeneous with respect to clinical presentation and inflammatory mechanisms underlying the disease, which is likely to contribute to variable results in clinical trials targeting specific inflammatory mediators. Genome-wide association studies have begun to identify genes underlying asthma (e.g., IL1RL1), which represent future therapeutic targets. In this article, we review and update the pharmacogenetics of current asthma therapies and discuss the genetics underlying selected Phase II and future targets.