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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 7 | 117592659 | splice donor variant | T/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 7 | 117592596 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117540116 | frameshift variant | -/TC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117610522 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117664711 | frameshift variant | CA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117627586 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117536546 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117627548 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117603725 | frameshift variant | A/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117592649 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117642569 | frameshift variant | -/AA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117592160 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117536639 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117540180 | missense variant | T/A;C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 7 | 117559643 | stop gained | C/A | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 7 | 117627640 | stop gained | C/G | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 7 | 117627765 | stop gained | C/A;T | snv | 8.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 7 | 117531067 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117536607 | frameshift variant | AT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117592090 | frameshift variant | CTCAAAACT/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117603611 | stop gained | -/G | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117590352 | splice acceptor variant | G/A;C | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 7 | 117530950 | frameshift variant | TAT/G;T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117504365 | splice donor variant | T/A;C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 7 | 117535388 | splice donor variant | GAGAATGATGATGAAGTACAGG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.700 | 0 |