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: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
Aspergillosis, Allergic Bronchopulmonary 		Infections; Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs121908761
rs121908761 		0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 1 1992 2013
dbSNP: rs121909034
rs121909034 		1.000 0.120 7 117603609 stop gained C/A;T snv 1.1E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 1 1993 2015
dbSNP: rs1396707015
rs1396707015 		1.000 0.120 7 117535273 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 0.010 1.000 1 2003 2003
dbSNP: rs374946172
rs374946172 		0.925 0.160 7 117592520 stop gained C/T snv 1.1E-05 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 1 2005 2014
dbSNP: rs397508211
rs397508211 		1.000 0.120 7 117559537 stop gained C/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 0.710 1.000 1 2004 2013
dbSNP: rs397508323
rs397508323 		1.000 0.120 7 117592133 stop gained G/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 0.010 1.000 1 2003 2003
dbSNP: rs397508336
rs397508336 		1.000 0.120 7 117592220 stop gained 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 1 1994 1994
dbSNP: rs397508696
rs397508696 		1.000 0.040 7 117665523 stop gained G/A;T snv
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs397508702
rs397508702 		1.000 0.120 7 117665556 stop gained 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 0.710 1.000 1 2019 2019
dbSNP: rs397508718
rs397508718 		0.925 0.160 7 117531070 stop gained G/A;T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 1 2008 2012
dbSNP: rs397508778
rs397508778 		0.851 0.160 7 117535326 stop gained 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 0.710 1.000 1 1994 2006
dbSNP: rs74597325
rs74597325 		0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0238074
Disease: Chronic pulmonary heart disease
Chronic pulmonary heart disease 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs74597325
rs74597325 		0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0034072
Disease: Cor pulmonale
Cor pulmonale 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs74767530
rs74767530 		0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 1 1993 1993
dbSNP: rs74767530
rs74767530 		0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
Aspergillosis, Allergic Bronchopulmonary 		Infections; Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs74767530
rs74767530 		0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 1992 1992
dbSNP: rs74767530
rs74767530 		0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 1993 1993
dbSNP: rs76649725
rs76649725 		1.000 0.120 7 117642484 stop gained C/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 0.710 1.000 1 1993 2016
dbSNP: rs77010898
rs77010898 		0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs77010898
rs77010898 		0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C0030286
Disease: Pancreatic Diseases
Pancreatic Diseases 		Digestive System Diseases 0.010 1.000 1 1993 1993
dbSNP: rs77010898
rs77010898 		0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		Digestive System Diseases 0.010 1.000 1 1992 1992
dbSNP: rs77010898
rs77010898 		0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2005 2005
dbSNP: rs77010898
rs77010898 		0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs77010898
rs77010898 		0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C4282128
Disease: PATENT DUCTUS ARTERIOSUS 1
PATENT DUCTUS ARTERIOSUS 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2011 2011