PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha, 5290
N. diseases: 1511; N. variants: 83
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.820 | 1.000 | 4 | 2005 | 2016 | |||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms | 0.800 | 0.909 | 22 | 2006 | 2019 | |||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.800 | 1.000 | 20 | 2006 | 2019 | |||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2012 | 2016 | |||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 2 | 2005 | 2005 | |||||||
|
0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
0.882 | 0.240 | 3 | 179204576 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.882 | 0.200 | 3 | 179199160 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.752 | 0.400 | 3 | 179210192 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.752 | 0.400 | 3 | 179210192 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.280 | 3 | 179230077 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.732 | 0.280 | 3 | 179199690 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
1.000 | 3 | 179199740 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 3 | 179201379 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 3 | 179204509 | missense variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 3 | 179204588 | missense variant | G/A | snv | 7.0E-06 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases | 0.800 | 0 | |||||||||||
|
0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases | 0.800 | 0 | |||||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.760 | 1.000 | 7 | 2006 | 2019 | |||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.740 | 1.000 | 14 | 2004 | 2016 | |||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.730 | 1.000 | 4 | 2008 | 2019 |