PIK3CB, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta, 5291
N. diseases: 1083; N. variants: 13
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 138783216 | intron variant | T/C | snv | 1.4E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
3 | 138783216 | intron variant | T/C | snv | 1.4E-02 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
Neoplasms | 0.070 | 1.000 | 7 | 2011 | 2015 | |||||||
|
0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 |
|
Neoplasms | 0.060 | 0.833 | 6 | 2009 | 2019 | |||||||
|
0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2011 | 2017 | |||||||
|
0.882 | 0.120 | 3 | 138759702 | intron variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.882 | 0.120 | 3 | 138759702 | intron variant | G/A;C | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms | 0.020 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.689 | 0.440 | 3 | 138759306 | missense variant | T/C | snv | 1.2E-05 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2011 | 2017 | |||||||
|
0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2016 | 2016 | |||||||
|
0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2008 | 2019 | |||||||
|
3 | 138655454 | missense variant | T/C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.120 | 3 | 138714505 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.080 | 3 | 138699044 | missense variant | C/T | snv | 1.4E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.120 | 3 | 138684714 | missense variant | C/A | snv | 8.0E-06 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 3 | 138684714 | missense variant | C/A | snv | 8.0E-06 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 138699042 | missense variant | A/C | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
3 | 138694820 | stop gained | G/A | snv | 4.0E-06 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.120 | 3 | 138759702 | intron variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.120 | 3 | 138759702 | intron variant | G/A;C | snv |
|
Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 |