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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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
|
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
|
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 | |||||
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 | ||||||||
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 | |||||
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 | |||||
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
|
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 | |||||
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 | |||||
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 | |||||
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 | |||||
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
|
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
|
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
|
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
|
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
|
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 |