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: rs10487372
rs10487372 		0.882 0.080 7 117560845 intron variant C/T snv 0.13
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10487372
rs10487372 		0.882 0.080 7 117560845 intron variant C/T snv 0.13
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10487372
rs10487372 		0.882 0.080 7 117560845 intron variant C/T snv 0.13
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs113857788
rs113857788 		0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs113857788
rs113857788 		0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs113857788
rs113857788 		0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic 		Digestive System Diseases; Chemically-Induced Disorders 0.010 < 0.001 1 2005 2005
dbSNP: rs113993958
rs113993958 		0.882 0.200 7 117530953 missense variant G/A;C;T snv 2.0E-05; 4.0E-06
CUI: C2936423
Disease: Echogenic Bowel
Echogenic Bowel 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C2939175
Disease: Meconium ileus
Meconium ileus 		Digestive System Diseases 0.010 < 0.001 1 1999 1999
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: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		Digestive System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0021843
Disease: Intestinal Obstruction
Intestinal Obstruction 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C4546077
Disease: Atypical cystic fibrosis
Atypical cystic fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11971167
rs11971167 		0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs121908755
rs121908755 		0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121908757
rs121908757 		0.925 0.160 7 117587799 missense variant A/C snv 4.0E-06
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121908758
rs121908758 		0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.010 1.000 1 1992 1992
dbSNP: rs121908758
rs121908758 		0.851 0.160 7 117590394 missense variant C/A snv 8.0E-06 7.0E-06
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		Digestive System Diseases 0.010 1.000 1 1992 1992
dbSNP: rs121908759
rs121908759 		0.827 0.160 7 117592032 missense variant G/A snv 1.0E-04 3.8E-04
CUI: C4546076
Disease: Classical cystic fibrosis
Classical cystic fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs121909005
rs121909005 		0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 1999 1999
dbSNP: rs121909044
rs121909044 		0.925 0.200 7 117587812 missense variant G/A;C snv 4.0E-06
CUI: C0152244
Disease: Bone Cysts, Aneurysmal
Bone Cysts, Aneurysmal 		Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1300867348
rs1300867348 		0.925 0.040 7 117664776 missense variant A/G snv
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1300867348
rs1300867348 		0.925 0.040 7 117664776 missense variant A/G snv
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs138338446
rs138338446 		1.000 0.040 7 117535269 missense variant G/A snv 2.3E-04 4.5E-04
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: 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