CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Disease: Lung diseases ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0024115
Disease:
Lung diseases 		0.010 GeneticVariation BEFREE We classify N1303K as a "severe" mutation with respect to the pancreas, but can find no correlation between this mutation, in either the homozygous or heterozygous state, and the severity of lung disease. 1380943 1992