CFTR, CF transmembrane conductance regulator, 1080
N. diseases: 365; N. variants: 133
Source: BEFREE ×
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 7 | 117560845 | intron variant | C/T | snv | 0.13 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 7 | 117560845 | intron variant | C/T | snv | 0.13 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.080 | 7 | 117560845 | intron variant | C/T | snv | 0.13 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 7 | 117590229 | intron variant | T/C | snv | 9.9E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 7 | 117616658 | intron variant | G/A | snv | 0.10 |
|
Digestive System Diseases; Neoplasms | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 7 | 117290908 | intron variant | A/G;T | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.080 | 7 | 117323508 | intron variant | T/C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.080 | 7 | 117323508 | intron variant | T/C;G | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 7 | 117288317 | intron variant | T/C;G | snv |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.800 | 1.000 | 14 | 1991 | 2018 | |||||||
|
0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.800 | 1.000 | 12 | 1990 | 2017 | |||||||
|
0.742 | 0.280 | 7 | 117642566 | stop gained | G/A;C | snv | 4.6E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.800 | 1.000 | 11 | 1989 | 2019 | |||||||
|
0.925 | 0.160 | 7 | 117530899 | stop gained | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.820 | 1.000 | 2 | 1990 | 2015 | |||||||
|
1.000 | 0.120 | 7 | 117652915 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.720 | 1.000 | 2 | 1991 | 1993 | ||||||||
|
1.000 | 0.120 | 7 | 117611751 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.720 | 1.000 | 2 | 1995 | 2013 | ||||||||
|
0.742 | 0.280 | 7 | 117642566 | stop gained | G/A;C | snv | 4.6E-04; 4.0E-06 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 1992 | 1992 | |||||||
|
0.742 | 0.280 | 7 | 117642566 | stop gained | G/A;C | snv | 4.6E-04; 4.0E-06 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 1992 | 1992 | |||||||
|
1.000 | 0.120 | 7 | 117530991 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.720 | 1.000 | 2 | 1997 | 2004 | ||||||||
|
1.000 | 0.120 | 7 | 117536669 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.710 | < 0.001 | 1 | 2017 | 2017 | ||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Male Urogenital Diseases | 0.710 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.010 | < 0.001 | 1 | 1999 | 1999 | |||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 |