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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.160 | 7 | 117548630 | intron variant | T/G | snv | 8.6E-03; 5.9E-05 | 9.0E-03 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 10 | 1992 | 2007 | ||||||
|
0.925 | 0.160 | 7 | 117602800 | intron variant | A/G | snv | 4.0E-06; 1.6E-03 | 1.1E-03 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 7 | 117589467 | intron variant | A/G | snv | 2.8E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117639961 | intron variant | C/G;T | snv |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117611555 | intron variant | A/G | snv | 4.2E-05 | 6.3E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117592541 | stop gained | C/G;T | snv | 1.3E-04; 5.5E-06 |
|
Male Urogenital Diseases | 0.800 | 1.000 | 6 | 1995 | 2007 | |||||||
|
0.925 | 0.160 | 7 | 117531070 | stop gained | G/A;T | snv |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | ||||||||
|
0.851 | 0.160 | 7 | 117534363 | stop gained | G/A;T | snv | 4.0E-06 |
|
Male Urogenital Diseases | 0.800 | 1.000 | 6 | 1995 | 2007 | |||||||
|
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 | |||||||
|
1.000 | 0.040 | 7 | 117665523 | stop gained | G/A;T | snv |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.742 | 0.280 | 7 | 117642566 | stop gained | G/A;C | snv | 4.6E-04; 4.0E-06 |
|
Male Urogenital Diseases | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.160 | 7 | 117509092 | stop gained | C/T | snv | 2.4E-05 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117530899 | stop gained | G/A;T | snv | 4.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117592292 | stop gained | C/T | snv | 1.6E-05 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 7 | 117611717 | stop gained | C/A;G | snv | 1.2E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117559468 | stop gained | C/A;G;T | snv | 1.2E-05; 4.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117592457 | stop gained | C/T | snv | 4.4E-06 | 1.4E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117594990 | stop gained | C/T | snv |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 7 | 117667029 | stop gained | C/A;G | snv | 1.2E-05 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117603613 | stop gained | T/A | snv | 1.2E-05 | 2.8E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117542040 | stop gained | A/T | snv |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117536629 | stop gained | C/G | snv | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117594977 | stop gained | G/A | snv | 4.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117548732 | stop gained | C/A;G;T | snv |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117667091 | stop gained | C/T | snv | 2.0E-05 | 2.1E-05 |
|
Male Urogenital Diseases | 0.700 | 0 |