CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Aspergillosis, Allergic Bronchopulmonary ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
Aspergillosis, Allergic Bronchopulmonary 		Infections; Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs74767530
rs74767530 		0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
Aspergillosis, Allergic Bronchopulmonary 		Infections; Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
Aspergillosis, Allergic Bronchopulmonary 		Infections; Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2001 2001