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 |
|
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 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.760 | 1.000 | 7 | 2006 | 2019 | |||||||
|
0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.730 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.716 | 0.240 | 3 | 179218295 | missense variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.623 | 0.520 | 3 | 179234296 | missense variant | C/T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 3 | 179199743 | frameshift variant | -/T | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.776 | 0.160 | 3 | 179218439 | intron variant | T/G | snv | 7.9E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 3 | 179234232 | synonymous variant | C/T | snv | 2.1E-02 | 1.5E-02 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.763 | 0.280 | 3 | 179148620 | intron variant | C/T | snv | 0.18 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.732 | 0.280 | 3 | 179199690 | missense variant | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.776 | 0.200 | 3 | 179179886 | intron variant | C/A | snv | 0.30 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |