rs78655421, CFTR

N. diseases: 17
Source: BEFREE ×
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
162 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.900 0.985 25 1992 2019
Congenital bilateral aplasia of vas deferens
28 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.880 1.000 8 1993 2014
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
46 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
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
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
7 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
714 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
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
Impaired glucose tolerance
CUI: C0271650
Disease: Impaired glucose tolerance
80 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
42 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
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 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
54 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
12 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