rs78655421, CFTR

N. diseases: 18
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 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.900 0.985 66 1992 2019
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.880 1.000 14 1993 2014
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.720 1.000 2 2000 2000
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
CUI: C2749757
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
38 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.700 0
Lung diseases
CUI: C0024115
Disease: Lung diseases
50 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.040 1.000 4 2000 2019
Acute pancreatitis
CUI: C0001339
Disease: Acute pancreatitis
51 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019
Aspergillosis, Allergic Bronchopulmonary
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
6 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2001 2001
Atypical cystic fibrosis
CUI: C4546077
Disease: Atypical cystic fibrosis
5 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2008 2008
Bronchiectasis
CUI: C0006267
Disease: Bronchiectasis
15 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
26 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 1992 1992
Impaired glucose tolerance
CUI: C0271650
Disease: Impaired glucose tolerance
81 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2009 2009
Non-obstructive azoospermia
CUI: C4021107
Disease: Non-obstructive azoospermia
88 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2017 2017
Obstructive azoospermia
CUI: C4023106
Disease: Obstructive azoospermia
9 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2011 2011
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 1992 1992
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
56 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019
Recurrent pancreatitis
CUI: C4551632
Disease: Recurrent pancreatitis
13 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019
Signs and Symptoms, Respiratory
CUI: C0037090
Disease: Signs and Symptoms, Respiratory
10 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019