CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Disease: Atypical cystic fibrosis ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993959
rs113993959
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4546077
Disease:
Atypical cystic fibrosis 		0.010 GeneticVariation BEFREE A family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H. 18078365 2008