CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 365; N. variants: 133
Source: BEFREE ×
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: rs121909011
rs121909011 		0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.850 1.000 5 1990 2015
dbSNP: rs193922525
rs193922525 		1.000 0.120 7 117664770 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 0.840 1.000 4 1995 2017
dbSNP: rs35516286
rs35516286 		0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.840 1.000 4 2001 2017
dbSNP: rs77932196
rs77932196 		0.790 0.280 7 117540270 missense variant G/A;C;T snv 2.4E-05; 2.4E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.840 1.000 4 1990 2015
dbSNP: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.040 1.000 4 2000 2019
dbSNP: rs121908758
rs121908758 		0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.830 1.000 3 1990 2015
dbSNP: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.030 1.000 3 2000 2014
dbSNP: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		Digestive System Diseases 0.030 1.000 3 2005 2014
dbSNP: rs397508462
rs397508462 		1.000 0.120 7 117606701 missense variant A/C;G;T snv 3.6E-05; 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.730 1.000 3 1997 2001
dbSNP: rs74551128
rs74551128 		0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.030 1.000 3 1992 1998
dbSNP: rs74551128
rs74551128 		0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		Digestive System Diseases 0.030 1.000 3 1992 1998
dbSNP: rs75389940
rs75389940 		0.882 0.120 7 117627753 missense variant A/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 0.830 1.000 3 2001 2017
dbSNP: rs75541969
rs75541969 		0.827 0.200 7 117614699 missense variant G/C snv 4.0E-04 3.2E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.730 1.000 3 1990 2015
dbSNP: rs11971167
rs11971167 		0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.720 1.000 2 1999 2008
dbSNP: rs121908751
rs121908751 		0.925 0.160 7 117530899 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 0.820 1.000 2 1990 2015
dbSNP: rs121908752
rs121908752 		0.851 0.160 7 117535285 missense variant T/G snv 1.9E-04 1.3E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 1.000 2 1990 2014
dbSNP: rs121908757
rs121908757 		0.925 0.160 7 117587799 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 0.720 1.000 2 1991 2016
dbSNP: rs121908803
rs121908803 		0.925 0.160 7 117535281 missense variant C/A;T 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 0.820 1.000 2 1990 2015
dbSNP: rs121909005
rs121909005 		0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 1.000 2 1990 2016
dbSNP: rs121909010
rs121909010 		1.000 0.120 7 117652915 stop gained G/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.720 1.000 2 1991 1993
dbSNP: rs121909011
rs121909011 		0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		Digestive System Diseases 0.020 1.000 2 1992 1995
dbSNP: rs121909011
rs121909011 		0.807 0.160 7 117540230 missense variant C/T snv 5.6E-05 9.1E-05
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.020 1.000 2 1992 1995
dbSNP: rs141033578
rs141033578 		0.925 0.160 7 117606695 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.020 1.000 2 2013 2017
dbSNP: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.020 1.000 2 2004 2008
dbSNP: rs1800076
rs1800076 		0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.020 1.000 2 1991 2011