CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Lung diseases ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74767530
rs74767530
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0024115
Disease:
Lung diseases 		0.010 GeneticVariation BEFREE Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease. 1381442 1992