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: 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: rs10487372
rs10487372 		0.882 0.080 7 117560845 intron variant C/T snv 0.13
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10487372
rs10487372 		0.882 0.080 7 117560845 intron variant C/T snv 0.13
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10487372
rs10487372 		0.882 0.080 7 117560845 intron variant C/T snv 0.13
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1057516216
rs1057516216 		1.000 0.120 7 117592659 splice donor variant T/C 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 0
dbSNP: rs1057516232
rs1057516232 		1.000 0.120 7 117504255 stop gained G/A 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 2015 2015
dbSNP: rs1057516236
rs1057516236 		1.000 0.120 7 117592596 frameshift variant G/- del
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057516387
rs1057516387 		1.000 0.120 7 117540116 frameshift variant -/TC delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057516415
rs1057516415 		1.000 0.120 7 117610522 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 0
dbSNP: rs1057516457
rs1057516457 		0.925 0.160 7 117664711 frameshift variant CA/- delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057516457
rs1057516457 		0.925 0.160 7 117664711 frameshift variant CA/- delins
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.700 0
dbSNP: rs1057516609
rs1057516609 		1.000 0.120 7 117627586 stop gained C/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
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: rs1057516646
rs1057516646 		1.000 0.120 7 117536546 splice acceptor variant A/G snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057516970
rs1057516970 		1.000 0.120 7 117627548 frameshift variant G/- del
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057517032
rs1057517032 		1.000 0.120 7 117603725 frameshift variant A/- delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057517068
rs1057517068 		1.000 0.120 7 117594992 frameshift variant -/T delins 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 6 2000 2016
dbSNP: rs1057517276
rs1057517276 		1.000 0.120 7 117592649 frameshift variant -/A delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1057517342
rs1057517342 		1.000 0.120 7 117535406 splice donor variant -/TACA 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 2005 2005
dbSNP: rs1057517404
rs1057517404 		1.000 0.120 7 117642569 frameshift variant -/AA delins
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 0
dbSNP: rs1060503164
rs1060503164 		1.000 0.120 7 117603783 splice donor variant G/A snv
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases 0.700 1.000 3 2003 2016
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: rs113857788
rs113857788 		0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs113857788
rs113857788 		0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs113857788
rs113857788 		0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic 		Digestive System Diseases; Chemically-Induced Disorders 0.010 < 0.001 1 2005 2005