CAMK2A, calcium/calmodulin dependent protein kinase II alpha, 815
N. diseases: 87; N. variants: 23
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 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 5 | 150273157 | splice acceptor variant | C/- | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150250270 | missense variant | T/G | snv |
|
0.800 | 1.000 | 4 | 2015 | 2018 | |||||||||
|
0.882 | 0.040 | 5 | 150250281 | missense variant | T/C | snv |
|
0.800 | 1.000 | 4 | 2015 | 2018 | |||||||||
|
0.882 | 0.040 | 5 | 150252032 | missense variant | T/A | snv |
|
0.800 | 1.000 | 4 | 2015 | 2018 | |||||||||
|
0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv |
|
0.800 | 1.000 | 4 | 2015 | 2018 | |||||||||
|
1.000 | 5 | 150250800 | missense variant | G/A | snv |
|
0.700 | 1.000 | 4 | 2015 | 2018 | ||||||||||
|
1.000 | 0.080 | 5 | 150227185 | intron variant | T/C | snv | 0.24 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 5 | 150276863 | intron variant | C/T | snv | 0.24 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 150228191 | splice donor variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
5 | 150228191 | splice donor variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
5 | 150228191 | splice donor variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 150228191 | splice donor variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
5 | 150228191 | splice donor variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
5 | 150228191 | splice donor variant | C/A;T | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 |