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: rs113857788
rs113857788 		0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05
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 1996 2017
dbSNP: rs141033578
rs141033578 		0.925 0.160 7 117606695 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.020 1.000 2 2013 2017
dbSNP: rs193922520
rs193922520 		0.925 0.160 7 117627775 missense variant G/A snv 4.1E-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 2 2002 2017
dbSNP: rs397508588
rs397508588 		1.000 0.120 7 117627670 stop gained C/A;G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 2 2001 2017
dbSNP: rs75527207
rs75527207 		0.732 0.440 7 117587806 missense variant G/A snv 1.8E-04 3.0E-04
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.020 1.000 2 1995 2017
dbSNP: rs1057516619
rs1057516619 		1.000 0.120 7 117536669 stop gained A/T snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.710 < 0.001 1 2017 2017
dbSNP: rs1351058559
rs1351058559 		0.925 0.160 7 117540099 splice acceptor 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 0.700 1.000 1 2017 2017
dbSNP: rs267606723
rs267606723 		0.827 0.200 7 117642451 missense variant G/A;T snv 8.0E-06; 4.0E-06
CUI: C0341318
Disease: Enterocutaneous Fistula
Enterocutaneous Fistula 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs387906373
rs387906373 		1.000 0.120 7 117652846 frameshift variant ATTT/- 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 1 2017 2017
dbSNP: rs75389940
rs75389940 		0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs75389940
rs75389940 		0.882 0.120 7 117627753 missense variant A/G snv 4.0E-06
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs78655421
rs78655421 		0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05
CUI: C4021107
Disease: Non-obstructive azoospermia
Non-obstructive azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs201124247
rs201124247 		0.882 0.160 7 117592008 missense variant A/G snv 3.1E-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 51 1990 2016
dbSNP: rs74551128
rs74551128 		0.807 0.160 7 117548795 missense variant C/A;T snv 5.3E-05; 5.7E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.880 0.979 48 1990 2016
dbSNP: rs121908755
rs121908755 		0.882 0.200 7 117587800 missense variant G/A;T snv 8.8E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.830 0.978 46 1990 2016
dbSNP: rs121908802
rs121908802 		0.851 0.160 7 117535263 missense variant C/T snv 7.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 42 1990 2016
dbSNP: rs121909005
rs121909005 		0.851 0.160 7 117587801 missense variant T/A;C;G snv 4.0E-06; 8.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.820 1.000 40 1990 2016
dbSNP: rs121909017
rs121909017 		0.851 0.160 7 117559546 missense variant C/T snv 8.0E-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 37 1990 2016
dbSNP: rs121909041
rs121909041 		1.000 0.120 7 117642483 missense variant T/A;C snv 4.0E-06
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.800 1.000 28 1990 2016
dbSNP: rs121909047
rs121909047 		0.925 0.160 7 117590355 missense variant C/A snv 1.2E-05 2.1E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.810 1.000 27 1990 2016
dbSNP: rs77284892
rs77284892 		0.851 0.160 7 117509047 stop gained G/A;T 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 20 1992 2016
dbSNP: rs121908767
rs121908767 		0.925 0.160 7 117610593 inframe deletion ATAGTG/- 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 18 1994 2016
dbSNP: rs121908768
rs121908768 		0.925 0.160 7 117540157 inframe deletion TCT/- delins 7.0E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 14 1993 2016
dbSNP: rs74467662
rs74467662 		0.925 0.160 7 117509145 splice region variant A/C;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 0.700 1.000 13 1997 2016
dbSNP: rs397508414
rs397508414 		1.000 0.120 7 117602865 splice region variant -/A ins 5.6E-05 9.1E-05
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 12 2000 2016