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: rs75541969
rs75541969
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0024115
Disease:
Lung diseases 		0.010 GeneticVariation BEFREE When present in trans with a CF-causing mutation, D1152H causes significant pulmonary disease, but all subjects had prolonged survival. 19843100 2010