rs113993959, CFTR

N. diseases: 25
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cystic Fibrosis
CUI: C0010674
Disease: Cystic Fibrosis
704 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.800 1.000 17 1991 2018
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.710 1.000 1 1998 1998
Acute bronchitis and bronchiolitis
CUI: C0155820
Disease: Acute bronchitis and bronchiolitis
2 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Acute upper respiratory infection
CUI: C0264222
Disease: Acute upper respiratory infection
2 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Anal and rectal conditions
CUI: C0740266
Disease: Anal and rectal conditions
2 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Asthma
CUI: C0004096
Disease: Asthma
1536 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Biliary cirrhosis
CUI: C0023892
Disease: Biliary cirrhosis
36 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Bronchiectasis
CUI: C0006267
Disease: Bronchiectasis
15 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
38 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Chronic Obstructive Airway Disease
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
852 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Hamman-Rich syndrome
CUI: C0085786
Disease: Hamman-Rich syndrome
8 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Hypovolemia
CUI: C0546884
Disease: Hypovolemia
3 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
63 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Malabsorption
CUI: C3714745
Disease: Malabsorption
3 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Pancreatic Diseases
CUI: C0030286
Disease: Pancreatic Diseases
11 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Pneumonia
CUI: C0032285
Disease: Pneumonia
33 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Pulmonary embolism with pulmonary infarction
CUI: C0034066
Disease: Pulmonary embolism with pulmonary infarction
1 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
Aspergillosis, Allergic Bronchopulmonary
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
6 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.010 1.000 1 2001 2001
Atypical cystic fibrosis
CUI: C4546077
Disease: Atypical cystic fibrosis
5 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.010 1.000 1 2008 2008
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
26 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.010 1.000 1 2004 2004
Intestinal Obstruction
CUI: C0021843
Disease: Intestinal Obstruction
3 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.010 1.000 1 2018 2018
Meconium ileus
CUI: C2939175
Disease: Meconium ileus
16 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.010 1 1999 1999
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.010 1.000 1 2004 2004