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 | 117535247 | splice acceptor variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117590352 | splice acceptor variant | G/A;C | snv | 4.0E-06 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117590444 | splice region variant | G/A;T | snv | 2.4E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117606753 | splice region variant | G/A | snv | 4.0E-06 | 3.5E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.160 | 7 | 117592218 | frameshift variant | AA/G | delins |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117530937 | frameshift variant | A/- | delins | 2.1E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117535263 | missense variant | C/T | snv | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117535281 | missense variant | C/A;T | snv | 4.0E-06 | 7.0E-06 |
|
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 | 117652851 | frameshift variant | -/T | delins |
|
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 | 117627712 | frameshift variant | C/- | del | 4.0E-06 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117592178 | frameshift variant | T/- | delins |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 7 | 117587801 | missense variant | T/A;C;G | snv | 4.0E-06; 8.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117590360 | missense variant | T/A;C;G | snv | 8.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117603612 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117594990 | stop gained | C/T | snv |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 7 | 117559546 | missense variant | C/T | snv | 8.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117611638 | missense variant | G/A;T | snv | 3.2E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117540276 | missense variant | C/T | snv | 1.1E-04 | 1.5E-04 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117611635 | missense variant | T/C;G | 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 | 117590355 | missense variant | C/A | snv | 1.2E-05 | 2.1E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117540099 | splice acceptor variant | G/A;C | snv |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 7 | 117611671 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 |