rs121909005, CFTR

N. diseases: 2
Disease: Cystic Fibrosis ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.820 GeneticVariation BEFREE A standard OGTT was performed before and after 16weeks of treatment with ivacaftor in 2 sibling patients with CF carrying the S549R gating mutation. 26547591 2016
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.820 GeneticVariation BEFREE Detailed radiological analyses were performed by a single observer in 12 children with CF from the United Arab Emirates who were homozygous for CFTR mutation S549R (T-->G). 10401194 1999