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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 |
|
Digestive System Diseases | 0.030 | 1.000 | 3 | 1992 | 1998 | |||||||
|
0.807 | 0.160 | 7 | 117540230 | missense variant | C/T | snv | 5.6E-05 | 9.1E-05 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 1992 | 1995 | ||||||
|
0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 1992 | 1996 | ||||||
|
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 | |||||||
|
0.790 | 0.280 | 7 | 117540270 | missense variant | G/A;C;T | snv | 2.4E-05; 2.4E-05 |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 1992 | 1995 | |||||||
|
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 | |||||||
|
0.851 | 0.160 | 7 | 117590394 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||||
|
0.851 | 0.160 | 7 | 117531068 | missense variant | T/A;C | snv | 1.8E-03 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||||
|
0.882 | 0.120 | 7 | 117627753 | missense variant | A/G | snv | 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.200 | 7 | 117614699 | missense variant | G/C | snv | 4.0E-04 | 3.2E-04 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
0.763 | 0.280 | 7 | 117509123 | missense variant | G/A;T | snv | 4.0E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.851 | 0.160 | 7 | 117559548 | stop gained | C/T | snv | 2.0E-05 | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||||
|
0.851 | 0.160 | 7 | 117559629 | missense variant | G/A;T | snv | 1.5E-04; 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||||
|
0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||||
|
0.851 | 0.160 | 7 | 117559509 | missense variant | G/A;T | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 1992 | 1992 | ||||||||
|
0.851 | 0.160 | 7 | 117587833 | missense variant | G/A;C | snv | 2.4E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 1992 | 1992 |