Variant "FBXL7:rs10044254"
Search result: 1 record
Variant information
Gene:
FBXL7 
Variant:
FBXL7:rs10044254 
Genomic location:
chr5:15783596(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_012304.4:c.128-144403A>G
protein_coding NM_001278317.1:c.-14-144403A>G
dbSNP ID:
rs10044254  
GWAS trait:
response to corticosteroid,asthma 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered response to inhaled corticosteroid(1)  
Detail：
  • Target disease:
    Asthma (DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to inhaled corticosteroid 
    Evidence:
    P=9.16×10(-8) 
    Effect:
    rs10044254, associated with both decreased expression of FBXL7 and improved symptomatic response to ICSs in 2 independent pediatric cohorts.
    Reference:
    PMID24486069
    Title:
    Genetic predictors associated with improvement of asthma symptoms in response to inhaled corticosteroids.
    Species studied:
    Human
    Abstract:
    To date, genome-wide association studies (GWASs) of inhaled corticosteroid (ICS) response in asthmatic patients have focused primarily on lung function and exacerbations.