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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 3 | 179234358 | frameshift variant | -/A | delins |
|
Digestive System Diseases; Neoplasms | 0.700 | 0 | |||||||||||
|
0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 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 | |||||||
|
0.776 | 0.200 | 3 | 179210293 | missense variant | A/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 3 | 179234232 | synonymous variant | C/T | snv | 2.1E-02 | 1.5E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.720 | 1.000 | 3 | 2008 | 2019 | |||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.710 | 1.000 | 2 | 2008 | 2016 | ||||||||
|
0.683 | 0.560 | 3 | 179210291 | missense variant | G/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.683 | 0.320 | 3 | 179234298 | missense variant | T/G | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.160 | 3 | 179218439 | intron variant | T/G | snv | 7.9E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 |