CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Signs and Symptoms, Respiratory ×
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: rs142920240
rs142920240 		0.851 0.240 7 117540273 missense variant T/A snv 1.4E-04 7.0E-05
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
Signs and Symptoms, Respiratory 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
Signs and Symptoms, Respiratory 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019