CDKL5, cyclin dependent kinase like 5, 6792
N. diseases: 224; N. variants: 221
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 | 0.080 | X | 18579945 | missense variant | A/G | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 18 | 2003 | 2017 | ||||||||
|
0.827 | 0.200 | X | 18584331 | missense variant | C/A;T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 18 | 2003 | 2017 | ||||||||
|
0.882 | 0.160 | X | 18587986 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 18 | 2003 | 2017 | ||||||||
|
0.925 | 0.160 | X | 18588058 | missense variant | T/C | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 18 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | X | 18604120 | missense variant | A/C | snv | 1.1E-05 | 9.5E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 18 | 2003 | 2017 | ||||||
|
0.882 | 0.200 | X | 18584324 | missense variant | A/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 18 | 2003 | 2017 | ||||||||
|
0.925 | 0.160 | X | 18584338 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 18 | 2003 | 2017 | ||||||||
|
1.000 | 0.040 | X | 18628446 | missense variant | C/T | snv | 3.8E-05 | 1.9E-05 |
|
Nervous System Diseases | 0.700 | 1.000 | 18 | 2003 | 2017 | ||||||
|
1.000 | 0.040 | X | 18650592 | missense variant | G/A;T | snv | 5.5E-06; 5.5E-06 |
|
Nervous System Diseases | 0.700 | 1.000 | 18 | 2003 | 2017 | |||||||
|
0.882 | 0.200 | X | 18581942 | missense variant | G/A;T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.200 | X | 18564496 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 18598499 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 18598508 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 18584332 | missense variant | G/A;C | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | X | 18609570 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | X | 18575423 | missense variant | T/A;C | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | X | 18625129 | missense variant | T/C | snv | 5.5E-06 |
|
Nervous System Diseases | 0.700 | 0 |