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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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1.000 | 0.280 | 3 | 114350292 | missense variant | G/A | snv |
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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 | |||||||||||
|
0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
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0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
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0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
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0.700 | 0 | ||||||||||||
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0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 0 | |||||||||||
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0.925 | 0.040 | 3 | 114339276 | missense variant | T/A | snv |
|
0.700 | 0 | ||||||||||||
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1.000 | 0.280 | 3 | 114350278 | missense variant | G/C | snv |
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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 | 114339355 | missense variant | C/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 | |||||||||||
|
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 | |||||||||||
|
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 | |||||||||||
|
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 | |||||||||||
|
3 | 114983210 | intron variant | A/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
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1.000 | 3 | 114350821 | frameshift variant | -/C | delins |
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0.700 | 1.000 | 7 | 2009 | 2017 | ||||||||||
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1.000 | 3 | 114350821 | frameshift variant | -/C | delins |
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0.700 | 1.000 | 7 | 2009 | 2017 | ||||||||||
|
0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv |
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Digestive System Diseases; Neoplasms | 0.720 | 0.667 | 3 | 2011 | 2016 | ||||||||
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0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv |
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Digestive System Diseases; Neoplasms | 0.720 | 0.667 | 3 | 2011 | 2016 | ||||||||
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0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv |
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Mental Disorders | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
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3 | 114463586 | intron variant | G/A;T | snv |
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0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
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1.000 | 0.280 | 3 | 114350310 | missense variant | T/G | snv |
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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 | 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 | ||||||||
|
1.000 | 0.280 | 3 | 114339426 | missense variant | C/G | snv |
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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 | 114339370 | missense variant | G/A | snv |
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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 | ||||||||
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1.000 | 0.040 | 3 | 114316541 | mature miRNA variant | A/G | snv | 4.0E-06 | 4.9E-05 |
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Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
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3 | 114339010 | missense variant | C/T | snv | 1.1E-05 | 7.0E-06 |
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Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
3 | 114339384 | missense variant | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2016 | 2016 |