CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Disease: Chronic Obstructive Airway Disease ×
Source: BEFREE ×
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: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.020 1.000 2 2004 2008
dbSNP: rs213950
rs213950 		0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2008 2008