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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.080 | 7 | 117531040 | frameshift variant | -/GA | ins | 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.851 | 0.160 | 7 | 117530918 | missense variant | A/C;G | snv | 8.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 7 | 117531041 | missense variant | A/C;G;T | snv | 8.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
0.851 | 0.160 | 7 | 117589467 | intron variant | A/G | snv | 2.8E-05 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117592218 | frameshift variant | AA/G | delins |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 7 | 117611717 | stop gained | C/A;G | snv | 1.2E-05 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117530974 | missense variant | C/A;G;T | snv | 8.0E-06; 2.0E-05; 2.0E-04 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 7 | 117548795 | missense variant | C/A;T | snv | 5.3E-05; 5.7E-05 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117639961 | intron variant | C/G;T | snv |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 7 | 117535263 | missense variant | C/T | snv | 7.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.160 | 7 | 117540230 | missense variant | C/T | snv | 5.6E-05 | 9.1E-05 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 7 | 117559546 | missense variant | C/T | snv | 8.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117535326 | stop gained | C/T | snv | 4.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117627525 | stop gained | C/T | snv | 3.2E-05 | 2.8E-05 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
0.827 | 0.160 | 7 | 117559591 | inframe deletion | CTT/- | delins | 8.0E-03 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117540285 | missense variant | G/A | snv | 2.4E-05 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.160 | 7 | 117592032 | missense variant | G/A | snv | 1.0E-04 | 3.8E-04 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 7 | 117611707 | stop gained | G/A | snv | 2.4E-05 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117602868 | splice region variant | G/A | snv | 7.6E-05 | 6.3E-05 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 7 | 117534318 | missense variant | G/A | snv | 1.6E-05 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.742 | 0.280 | 7 | 117642566 | stop gained | G/A;C | snv | 4.6E-04; 4.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 |
|
Digestive System Diseases | 0.720 | 1.000 | 2 | 2000 | 2000 | |||||||
|
0.851 | 0.160 | 7 | 117530898 | splice acceptor variant | G/A;C;T | snv | 1.6E-05 |
|
Digestive System Diseases | 0.700 | 0 |