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: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0155820
Disease: Acute bronchitis and bronchiolitis
Acute bronchitis and bronchiolitis 		0.700 0
dbSNP: rs74597325
rs74597325 		0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0155820
Disease: Acute bronchitis and bronchiolitis
Acute bronchitis and bronchiolitis 		0.700 0
dbSNP: rs397508687
rs397508687 		0.827 0.080 7 117531040 frameshift variant -/GA ins 4.0E-06
CUI: C0262417
Disease: Acute on chronic pancreatitis
Acute on chronic pancreatitis 		Digestive System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs76371115
rs76371115 		0.807 0.160 7 117531041 missense variant A/C;G;T snv 8.0E-06
CUI: C0262417
Disease: Acute on chronic pancreatitis
Acute on chronic pancreatitis 		Digestive System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs213950
rs213950 		0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1800080
rs1800080 		0.925 0.120 7 117534330 missense variant A/G snv
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		Digestive System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0264222
Disease: Acute upper respiratory infection
Acute upper respiratory infection 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs74597325
rs74597325 		0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0264222
Disease: Acute upper respiratory infection
Acute upper respiratory infection 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs17451754
rs17451754 		0.925 0.080 7 117616658 intron variant G/A snv 0.10
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2016 2016
dbSNP: rs2188554
rs2188554 		1.000 0.080 7 117400063 intron variant A/G snv 0.20
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs397508638
rs397508638 		0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C0002063
Disease: Alkalosis
Alkalosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs80034486
rs80034486 		0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04
CUI: C0002063
Disease: Alkalosis
Alkalosis 		Nutritional and Metabolic 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: C0740266
Disease: Anal and rectal conditions
Anal and rectal conditions 		0.700 0
dbSNP: rs74597325
rs74597325 		0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0740266
Disease: Anal and rectal conditions
Anal and rectal conditions 		0.700 0
dbSNP: rs4148689
rs4148689 		0.925 0.120 7 117503548 5 prime UTR variant C/G snv 0.25
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 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: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
Aspergillosis, Allergic Bronchopulmonary 		Infections; Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs74767530
rs74767530 		0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
Aspergillosis, Allergic Bronchopulmonary 		Infections; Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2001 2001
dbSNP: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0004031
Disease: Aspergillosis, Allergic Bronchopulmonary
Aspergillosis, Allergic Bronchopulmonary 		Infections; Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2001 2001
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: rs213950
rs213950 		0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs75527207
rs75527207 		0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs77010898
rs77010898 		0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 0
dbSNP: rs74597325
rs74597325 		0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 0