CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 ×
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: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs78756941
rs78756941 		0.851 0.160 7 117531115 splice donor variant G/T snv 7.7E-05 1.0E-04
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs78802634
rs78802634 		0.851 0.160 7 117611707 stop gained G/A snv 2.4E-05
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs79850223
rs79850223 		0.851 0.160 7 117627525 stop gained C/T snv 3.2E-05 2.8E-05
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs80224560
rs80224560 		0.851 0.160 7 117602868 splice region variant G/A snv 7.6E-05 6.3E-05
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		Respiratory Tract Diseases 0.700 0
dbSNP: rs80282562
rs80282562 		0.851 0.160 7 117534318 missense variant G/A snv 1.6E-05
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		Respiratory Tract Diseases 0.700 0