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: 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: 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
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: 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: 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: 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: rs113857788
rs113857788
0.882 0.160 7 117664780 missense variant G/C;T snv 1.0E-03; 6.0E-05
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
0.700 0
dbSNP: rs113993958
rs113993958
0.882 0.200 7 117530953 missense variant G/A;C;T snv 2.0E-05; 4.0E-06
Congenital bilateral aplasia of vas deferens
Male Urogenital Diseases 0.800 0
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: 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: rs113993959
rs113993959
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
Pulmonary embolism with pulmonary infarction
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs113993959
rs113993959
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0030286
Disease: Pancreatic Diseases
Pancreatic Diseases
Digestive System Diseases 0.700 0
dbSNP: rs113993959
rs113993959
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
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: rs113993959
rs113993959
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0546884
Disease: Hypovolemia
Hypovolemia
Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs113993959
rs113993959
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases 0.700 0
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: rs113993959
rs113993959
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1
Respiratory Tract Diseases 0.700 0
dbSNP: rs113993959
rs113993959
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0032285
Disease: Pneumonia
Pneumonia
Infections; Respiratory Tract Diseases 0.700 0