CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Bronchiectasis ×
Source: ALL
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: C0006267
Disease:
Bronchiectasis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs74597325
rs74597325
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0006267
Disease:
Bronchiectasis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0006267
Disease:
Bronchiectasis 		0.010 GeneticVariation BEFREE For those with chest HRCT results available, 75% p.Arg117His-5TCF, 33% p.Arg117His-7TCF and 27% p.Arg117His-7TCFTR patients had bronchiectasis. 30279124 2019