CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Pulmonary embolism with pulmonary infarction ×
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: C0034066
Disease: Pulmonary embolism with pulmonary infarction
Pulmonary embolism with pulmonary infarction 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0