ZBTB20, zinc finger and BTB domain containing 20, 26137
N. diseases: 139; N. variants: 29
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 | 0.280 | 3 | 114350310 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.280 | 3 | 114339420 | missense variant | T/G | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.280 | 3 | 114339358 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
3 | 114485122 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.280 | 3 | 114350291 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.280 | 3 | 114350278 | missense variant | G/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
1.000 | 0.280 | 3 | 114350307 | missense variant | G/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
3 | 114463586 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 0.280 | 3 | 114350276 | missense variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
|
3 | 114680449 | intron variant | G/A | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |