rs121908761, CFTR

N. diseases: 4
Disease: Cystic Fibrosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870 2013
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 CausalMutation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578 2008
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 GeneticVariation BEFREE Three patients (15.0%) had a cystic fibrosis (CF) mutation on one chromosome (deltaF508, I336K, Y1092X), which is known to cause phenotypical severe cystic fibrosis. 10950058 2000
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 CausalMutation CLINVAR Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. 1284534 1992
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
0.710 CausalMutation CLINVAR