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 | 117480108 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117480132 | missense variant | C/A;T | snv |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 117504348 | missense variant | C/A | snv | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | |||||||
|
0.925 | 0.160 | 7 | 117509031 | splice region variant | C/A;T | snv | 2.4E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117509035 | stop gained | G/A;T | snv | 1.2E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117509047 | stop gained | G/A;T | snv | 2.4E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117509069 | missense variant | C/T | snv | 3.6E-05 | 3.5E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.160 | 7 | 117509089 | missense variant | C/T | snv | 1.5E-03 | 4.3E-03 |
|
Male Urogenital Diseases | 0.710 | 1.000 | 1 | 1999 | 1999 | ||||||
|
0.925 | 0.160 | 7 | 117509092 | stop gained | C/T | snv | 2.4E-05 | 7.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | |||||||||
|
0.763 | 0.200 | 7 | 117509093 | missense variant | G/A;T | snv | 1.5E-02; 8.0E-06 |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.763 | 0.280 | 7 | 117509123 | missense variant | G/A;T | snv | 4.0E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117509128 | frameshift variant | TT/- | delins | 1.5E-04 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117509145 | splice region variant | A/C;G | snv | 4.0E-06 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117530898 | splice acceptor variant | G/A;C;T | snv | 1.6E-05 |
|
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 | ||||||||||
|
0.851 | 0.160 | 7 | 117530918 | missense variant | A/C;G | snv | 8.0E-06 |
|
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 | ||||||||||
|
0.882 | 0.200 | 7 | 117530953 | missense variant | G/A;C;T | snv | 2.0E-05; 4.0E-06 |
|
Male Urogenital Diseases | 0.800 | 0 | ||||||||||
|
1.000 | 0.040 | 7 | 117530957 | missense variant | C/G;T | snv | 6.0E-05 |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 | |||||||
|
0.851 | 0.160 | 7 | 117530974 | missense variant | C/A;G;T | snv | 8.0E-06; 2.0E-05; 2.0E-04 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 |
|
Male Urogenital Diseases | 0.880 | 1.000 | 14 | 1993 | 2014 | |||||||
|
1.000 | 0.040 | 7 | 117530989 | missense variant | T/C | snv |
|
Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.925 | 0.160 | 7 | 117531002 | missense variant | G/A;C;T | snv | 1.2E-05 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 7 | 117531068 | missense variant | T/A;C | snv | 1.8E-03 |
|
Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.160 | 7 | 117531070 | stop gained | G/A;T | snv |
|
Male Urogenital Diseases | 0.700 | 1.000 | 6 | 1995 | 2007 |