Variant "SLC11A1:rs17234516"
Search result: 1 record
Variant information
Gene:
SLC11A1 
Variant:
SLC11A1:rs17234516 
dbSNP ID:
rs17234516  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Pleiotropy(1)  
Modifier effect:
Altered phenotype(1)  
Detail：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Altered phenotype 
    Evidence:
    OR=3.333; 95% CI: 1.085-10.24 
    Effect:
    The clinical and laboratory variability of CF were associated with the variants in the genes of SLC family
    Reference:
    PMID28756021
    Title:
    Association of clinical severity of cystic fibrosis with variants in the SLC gene family (SLC6A14, SLC26A9, SLC11A1 and SLC9A3).
    Species studied:
    Human
    Abstract:
    Cystic fibrosis (CF) manifests with clinical and histopathological variability depending on environmental and genetic factors. Moreover, the genes encoding ion channels[rs3788766(SLC6A14), rs7512462(SLC26A9), rs17235416(SLC11A1) and rs17563161(SLC9A3)] have been insufficiently studied as modifier genes. Then, our objective was associate the variants in the genes of SLC family with 43 CF severity markers.