CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Cystic Fibrosis ×
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: rs397508479
rs397508479 		1.000 0.120 7 117610544 missense variant T/G snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 42 1990 2015
dbSNP: rs397508267
rs397508267 		1.000 0.120 7 117590353 missense variant A/C snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 39 1990 2015
dbSNP: rs193922504
rs193922504 		1.000 0.120 7 117587827 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 35 1990 2015
dbSNP: rs397508195
rs397508195 		1.000 0.120 7 117548797 missense variant G/C;T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 35 1990 2015
dbSNP: rs397508282
rs397508282 		1.000 0.120 7 117590387 missense variant G/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 35 1990 2017
dbSNP: rs397508316
rs397508316 		1.000 0.120 7 117592049 missense variant G/A;C snv 4.1E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.810 1.000 35 1990 2015
dbSNP: rs397508531
rs397508531 		1.000 0.120 7 117611733 missense variant T/C snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.810 1.000 35 1990 2015
dbSNP: rs77902683
rs77902683 		1.000 0.120 7 117642568 missense variant G/A;T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.810 1.000 35 1990 2015
dbSNP: rs121908750
rs121908750 		1.000 0.120 7 117509140 missense variant G/A snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs121909009
rs121909009 		1.000 0.120 7 117548804 missense variant G/T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs121909015
rs121909015 		1.000 0.120 7 117642593 missense variant G/C snv 8.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs121909016
rs121909016 		1.000 0.120 7 117540163 missense variant C/G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs121909020
rs121909020 		1.000 0.120 7 117611640 missense variant G/A;C snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 34 1990 2015
dbSNP: rs121909028
rs121909028 		1.000 0.120 7 117642577 missense variant T/C snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs121909031
rs121909031 		1.000 0.120 7 117530951 missense variant A/G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs121909033
rs121909033 		1.000 0.120 7 117592110 missense variant A/T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs121909035
rs121909035 		1.000 0.120 7 117603719 missense variant C/T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs121909037
rs121909037 		1.000 0.120 7 117611653 missense variant A/C;G snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs121909040
rs121909040 		1.000 0.120 7 117642466 missense variant G/A snv 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 34 1990 2015
dbSNP: rs121909042
rs121909042 		1.000 0.120 7 117652875 missense variant A/C;T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs145540754
rs145540754 		1.000 0.120 7 117592246 missense variant T/G snv 7.2E-05; 8.0E-06 3.1E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 34 1990 2015
dbSNP: rs150691494
rs150691494 		1.000 0.120 7 117540132 missense variant A/G snv 2.9E-04 1.8E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 34 1990 2015
dbSNP: rs193922506
rs193922506 		1.000 0.120 7 117595036 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 34 1990 2015
dbSNP: rs201978662
rs201978662 		1.000 0.120 7 117592004 missense variant G/A snv 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015
dbSNP: rs397508146
rs397508146 		1.000 0.120 7 117540267 missense variant T/C snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 34 1990 2015