CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
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: C0006267
Disease: Bronchiectasis
Bronchiectasis
Respiratory Tract Diseases 0.700 0
dbSNP: rs74597325
rs74597325
0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
Respiratory Tract Diseases 0.700 0
dbSNP: rs78655421
rs78655421
0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
Respiratory Tract Diseases 0.010 1.000 1 2019 2019