Variant "IFRD1:c.907-2282G>T"
Search result: 1 record
Variant information
Gene:
IFRD1 
Variant:
IFRD1:c.907-2282G>T 
dbSNP ID:
rs3807213  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.002 
    Effect:
    The T allele of the common polymorphisms rs7817 and the rs7817-rs3807213 haplotype were associated with NP
    Reference:
    PMID26397160
    Title:
    IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients.
    Species studied:
    Human
    Abstract:
    Nasal polyposis (NP) is an inflammatory disease of the upper nasal airways frequently present in CF patients. Interferon-Related Developmental Regulator 1 (IFRD1) gene was reported as a possible modifier of CF lung disease severity. Three IFRD1 SNPs were analyzed to investigate a possible effect on the development of NP in CF patients.