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: rs75527207
rs75527207 		0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.900 0.980 99 1990 2020
dbSNP: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.900 0.985 66 1992 2019
dbSNP: rs80034486
rs80034486 		0.807 0.160 7 117652877 missense variant C/G snv 1.4E-04 1.6E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.900 0.966 59 1990 2019
dbSNP: rs77010898
rs77010898 		0.742 0.280 7 117642566 stop gained G/A;C snv 4.6E-04; 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 17 1989 2019
dbSNP: rs397508638
rs397508638 		0.807 0.160 7 117652871 frameshift variant A/-;AA delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.100 0.875 16 1991 2019
dbSNP: rs75528968
rs75528968 		1.000 0.120 7 117540176 frameshift variant T/- delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 10 1992 2019
dbSNP: rs193922532
rs193922532 		0.925 0.160 7 117536629 stop gained C/G snv 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 8 2000 2019
dbSNP: rs386134230
rs386134230 		0.925 0.160 7 117606674 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 8 1999 2019
dbSNP: rs78802634
rs78802634 		0.851 0.160 7 117611707 stop gained G/A snv 2.4E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 5 1992 2019
dbSNP: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.040 1.000 4 2000 2019
dbSNP: rs39312
rs39312 		7 117314731 intron variant A/C snv 0.43
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2018 2019
dbSNP: rs75527207
rs75527207 		0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0030469
Disease: Paranasal Sinus Disorder
Paranasal Sinus Disorder 		Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2015 2019
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: 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: rs397508702
rs397508702 		1.000 0.120 7 117665556 stop gained C/T snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 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: C0010278
Disease: Craniosynostosis
Craniosynostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal 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: C0948780
Disease: Rhinosinusitis
Rhinosinusitis 		Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs7805063
rs7805063 		7 117401015 intron variant C/T snv 0.54
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine 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: C0037090
Disease: Signs and Symptoms, Respiratory
Signs and Symptoms, Respiratory 		Pathological Conditions, Signs and Symptoms 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: C4551632
Disease: Recurrent pancreatitis
Recurrent 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: C0006267
Disease: Bronchiectasis
Bronchiectasis 		Respiratory Tract 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: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs76879328
rs76879328 		1.000 0.120 7 117540305 missense variant C/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 1.000 21 1990 2018