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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 17 1991 2018
dbSNP: rs377729736
rs377729736 		0.925 0.160 7 117531117 splice region variant A/G snv 2.5E-04 1.5E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 16 2000 2018
dbSNP: rs144055758
rs144055758 		0.925 0.160 7 117610625 missense variant A/G snv 1.6E-05; 4.0E-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 15 1997 2018
dbSNP: rs213950
rs213950 		0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.080 1.000 8 1998 2018
dbSNP: rs397508453
rs397508453 		1.000 0.120 7 117603782 missense variant G/A;C snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.720 1.000 8 1993 2018
dbSNP: rs75789129
rs75789129 		0.925 0.160 7 117587820 missense variant A/G snv 3.5E-03 1.2E-03
CUI: C1853926
Disease: NONAKA MYOPATHY
NONAKA MYOPATHY 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2018 2018
dbSNP: rs10249651
rs10249651 		1.000 0.040 7 117424571 intron variant T/C snv 0.40
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs113993959
rs113993959 		0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0021843
Disease: Intestinal Obstruction
Intestinal Obstruction 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs186089140
rs186089140 		0.925 0.160 7 117592377 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs186089140
rs186089140 		0.925 0.160 7 117592377 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0151476
Disease: Hypochloremic alkalosis
Hypochloremic alkalosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs397508731
rs397508731 		1.000 0.120 7 117531109 missense variant A/G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs75053309
rs75053309 		1.000 0.120 7 117540309 missense variant C/A;G;T snv 1.0E-04
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs75527207
rs75527207 		0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0038587
Disease: Substance Withdrawal Syndrome
Substance Withdrawal Syndrome 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs975722
rs975722 		1.000 0.040 7 117692860 intron variant A/G snv 0.53
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs368505753
rs368505753 		0.925 0.160 7 117509069 missense variant C/T snv 3.6E-05 3.5E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 0.973 37 1990 2017
dbSNP: rs397508282
rs397508282 		1.000 0.120 7 117590387 missense variant G/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 35 1990 2017
dbSNP: rs1800111
rs1800111 		0.882 0.160 7 117610521 missense variant G/C snv 2.3E-03 2.1E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.720 1.000 22 1990 2017
dbSNP: rs193922525
rs193922525 		1.000 0.120 7 117664770 missense variant G/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.840 1.000 22 1995 2017
dbSNP: rs35516286
rs35516286 		0.851 0.160 7 117531068 missense variant T/A;C snv 1.8E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.840 1.000 18 2001 2017
dbSNP: rs11971167
rs11971167 		0.882 0.160 7 117642528 missense variant G/A;T snv 1.3E-03
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.730 0.941 17 2001 2017
dbSNP: rs191456345
rs191456345 		0.925 0.160 7 117536576 missense variant A/G snv 1.8E-04 1.1E-04
CUI: C1865433
Disease: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		0.700 1.000 17 1995 2017
dbSNP: rs75389940
rs75389940 		0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.830 1.000 17 2001 2017
dbSNP: rs74597325
rs74597325 		0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 16 1990 2017
dbSNP: rs193922511
rs193922511 		1.000 0.040 7 117603687 missense variant T/G snv 1.6E-05 2.8E-05
CUI: C1865433
Disease: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		0.700 1.000 10 1997 2017
dbSNP: rs397508310
rs397508310 		1.000 0.120 7 117591993 missense variant A/G;T 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 10 2002 2017