CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Cystic Fibrosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75039782
rs75039782
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 CausalMutation CLINVAR Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas. 26631874 2016
dbSNP: rs75039782
rs75039782
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870 2013
dbSNP: rs75039782
rs75039782
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 CausalMutation CLINVAR Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. 15371902 2005
dbSNP: rs75039782
rs75039782
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 CausalMutation CLINVAR A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. 7521937 1994