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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 |
|
Respiratory Tract Diseases | 0.040 | 1.000 | 4 | 2000 | 2019 | |||||||
|
0.716 | 0.320 | 7 | 117559479 | missense variant | G/A | snv | 0.47 | 0.57 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 |
|
Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 1995 | 2017 | ||||||
|
0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.790 | 0.280 | 7 | 117540270 | missense variant | G/A;C;T | snv | 2.4E-05; 2.4E-05 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||||
|
0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 |
|
Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 1995 | 1995 | |||||||
|
0.807 | 0.160 | 7 | 117652871 | frameshift variant | A/-;AA | delins |
|
Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 1992 | 1992 | ||||||||
|
0.807 | 0.160 | 7 | 117652877 | missense variant | C/G | snv | 1.4E-04 | 1.6E-04 |
|
Respiratory Tract Diseases | 0.010 | < 0.001 | 1 | 1992 | 1992 | ||||||
|
0.827 | 0.200 | 7 | 117614699 | missense variant | G/C | snv | 4.0E-04 | 3.2E-04 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.851 | 0.160 | 7 | 117587801 | missense variant | T/A;C;G | snv | 4.0E-06; 8.0E-06 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.851 | 0.160 | 7 | 117548798 | missense variant | T/C | snv | 2.0E-04 | 4.9E-05 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.851 | 0.320 | 7 | 117627537 | stop gained | C/T | snv | 5.6E-05 | 4.9E-05 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||||
|
0.882 | 0.160 | 7 | 117664780 | missense variant | G/C;T | snv | 1.0E-03; 6.0E-05 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.160 | 7 | 117587799 | missense variant | A/C | snv | 4.0E-06 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 |