POGZ, pogo transposable element derived with ZNF domain, 23126
N. diseases: 117; N. variants: 68
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 |
|
0.700 | 1.000 | 13 | 1999 | 2017 | |||||||||
|
1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||||||
|
1.000 | 1 | 151406306 | stop gained | G/A;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 13 | 1999 | 2017 | ||||||||
|
1.000 | 1 | 151406046 | stop gained | G/A | snv |
|
0.700 | 1.000 | 13 | 1999 | 2017 | ||||||||||
|
1.000 | 1 | 151406046 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 1.000 | 13 | 1999 | 2017 | |||||||||
|
1.000 | 1 | 151406046 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 13 | 1999 | 2017 | |||||||||
|
0.925 | 0.160 | 1 | 151406100 | stop gained | G/A | snv |
|
0.700 | 1.000 | 13 | 1999 | 2017 | |||||||||
|
1.000 | 0.160 | 1 | 151428149 | stop gained | G/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.925 | 0.160 | 1 | 151406100 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
1.000 | 0.160 | 1 | 151411741 | stop gained | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 151406229 | stop gained | C/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 151411688 | stop gained | G/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 151406445 | stop gained | G/A;T | snv | 5.1E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | ||||||||||
|
1.000 | 0.160 | 1 | 151406324 | stop gained | A/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 151406034 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 151405188 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 151412348 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 151412348 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.160 | 1 | 151412327 | missense variant | T/C | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.160 | 1 | 151412327 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 151405647 | missense variant | A/C;G | snv |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 151428041 | missense variant | G/A | snv |
|
Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 1 | 151408777 | missense variant | T/C | snv | 7.0E-06 |
|
Mental Disorders | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 1 | 151404828 | missense variant | C/T | snv | 4.0E-06 |
|
Mental Disorders | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 1 | 151428188 | missense variant | G/A;C | snv |
|
Mental Disorders | 0.700 | 0 |