TP53, tumor protein p53, 7157
N. diseases: 2494; N. variants: 527
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||||||
|
0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2014 | 2016 | ||||||||
|
0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||||||
|
0.716 | 0.280 | 17 | 7675094 | missense variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.360 | 17 | 7675189 | missense variant | G/C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.360 | 17 | 7675191 | missense variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.689 | 0.440 | 17 | 7674251 | missense variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.360 | 17 | 7673797 | missense variant | A/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.240 | 17 | 7673811 | missense variant | A/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.280 | 17 | 7673810 | missense variant | A/C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.240 | 17 | 7673812 | missense variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.807 | 0.240 | 17 | 7674200 | missense variant | T/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.360 | 17 | 7675217 | splice acceptor variant | T/A;C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.776 | 0.320 | 17 | 7676037 | missense variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.763 | 0.160 | 17 | 7674247 | missense variant | T/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.360 | 17 | 7674242 | missense variant | A/C;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.240 | 17 | 7674884 | missense variant | A/C;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.742 | 0.360 | 17 | 7673800 | missense variant | C/A;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.752 | 0.240 | 17 | 7673799 | missense variant | A/C;G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |