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: rs121909019
rs121909019 		0.925 0.160 7 117611638 missense variant G/A;T snv 3.2E-05
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: 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: rs397508635
rs397508635 		0.925 0.160 7 117480132 missense variant C/A;T 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 34 1990 2015
dbSNP: rs121909047
rs121909047 		0.925 0.160 7 117590355 missense variant C/A snv 1.2E-05 2.1E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.810 1.000 27 1990 2016
dbSNP: rs267606723
rs267606723 		0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 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 26 1991 2015
dbSNP: rs79282516
rs79282516 		0.851 0.160 7 117559509 missense variant G/A;T 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 18 1992 2015
dbSNP: rs201124247
rs201124247 		0.882 0.160 7 117592008 missense variant A/G snv 3.1E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 51 1990 2016
dbSNP: rs397508464
rs397508464 		0.851 0.160 7 117530918 missense variant A/C;G 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 47 1990 2015
dbSNP: rs77834169
rs77834169 		0.851 0.160 7 117530974 missense variant C/A;G;T snv 8.0E-06; 2.0E-05; 2.0E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 45 1990 2015
dbSNP: rs121908802
rs121908802 		0.851 0.160 7 117535263 missense variant C/T 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 42 1990 2016
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: rs139304906
rs139304906 		0.925 0.160 7 117611671 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 38 1990 2015
dbSNP: rs397508759
rs397508759 		0.851 0.160 7 117534363 stop gained 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 0.800 1.000 38 1990 2015
dbSNP: rs121909017
rs121909017 		0.851 0.160 7 117559546 missense variant C/T 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 37 1990 2016
dbSNP: rs77409459
rs77409459 		0.851 0.160 7 117540243 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 37 1990 2015
dbSNP: rs77646904
rs77646904 		0.851 0.160 7 117559629 missense variant G/A;T snv 1.5E-04; 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 37 1990 2015
dbSNP: rs121909036
rs121909036 		0.925 0.160 7 117611635 missense variant T/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 36 1990 2015
dbSNP: rs113993958
rs113993958 		0.882 0.200 7 117530953 missense variant G/A;C;T snv 2.0E-05; 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 35 1990 2015
dbSNP: rs121909006
rs121909006 		0.925 0.160 7 117590360 missense variant T/A;C;G 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 35 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: 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: rs121909008
rs121909008 		0.925 0.160 7 117603612 missense variant A/G 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 34 1990 2015