CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Chronic pulmonary heart disease ×
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: rs74597325
rs74597325 		0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0238074
Disease: Chronic pulmonary heart disease
Chronic pulmonary heart disease 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014