CAMK2B, calcium/calmodulin dependent protein kinase II beta, 816
N. diseases: 80; N. variants: 16
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 7 | 44241784 | splice acceptor variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 7 | 44241784 | splice acceptor variant | C/T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 7 | 44220165 | missense variant | C/A;G;T | snv | 2.6E-04; 5.8E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 7 | 44306737 | intron variant | A/C;G | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 7 | 44241702 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
1.000 | 7 | 44241751 | missense variant | T/A | snv |
|
0.800 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv |
|
0.800 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
1.000 | 7 | 44242618 | missense variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2017 | 2018 | |||||||||
|
1.000 | 7 | 44254555 | missense variant | C/T | snv |
|
0.800 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
1.000 | 7 | 44284206 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.040 | 7 | 44220272 | synonymous variant | C/G;T | snv | 1.7E-02; 0.41 |
|
Nutritional and Metabolic Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 7 | 44254555 | missense variant | C/T | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 3 | 2002 | 2017 |