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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.160 | 7 | 117509047 | stop gained | G/A;T | snv | 2.4E-05 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.160 | 7 | 117530898 | splice acceptor variant | G/A;C;T | snv | 1.6E-05 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117530918 | missense variant | A/C;G | snv | 8.0E-06 |
|
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 | ||||||||||
|
0.716 | 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 | |||||||
|
0.827 | 0.080 | 7 | 117531040 | frameshift variant | -/GA | ins | 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
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 | 117531115 | splice donor variant | G/T | snv | 7.7E-05 | 1.0E-04 |
|
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 | ||||||||||
|
0.851 | 0.160 | 7 | 117534363 | stop gained | G/A;T | snv | 4.0E-06 |
|
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 | ||||||||||
|
0.851 | 0.160 | 7 | 117535285 | missense variant | T/G | snv | 1.9E-04 | 1.3E-04 |
|
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 | ||||||||||
|
1.000 | 0.040 | 7 | 117540210 | missense variant | T/G | snv | 1.6E-05 | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
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 | 117540285 | missense variant | G/A | snv | 2.4E-05 |
|
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 | ||||||||||
|
0.851 | 0.160 | 7 | 117548798 | missense variant | T/C | snv | 2.0E-04 | 4.9E-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 | ||||||||||
|
0.827 | 0.160 | 7 | 117559591 | inframe deletion | CTT/- | delins | 8.0E-03 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.677 | 0.280 | 7 | 117587778 | stop gained | G/A;T | snv | 8.0E-06; 3.4E-04 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117587801 | missense variant | T/A;C;G | snv | 4.0E-06; 8.0E-06 |
|
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 | |||||||||
|
0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 |
|
Digestive System Diseases | 0.700 | 0 |