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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 17 | 7676550 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7670658 | stop gained | TGAGTTCCA/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 7673579 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7673695 | splice donor variant | CCTCGCTTA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7673778 | frameshift variant | TC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7673799 | frameshift variant | AC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 17 | 7674245 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7674249 | frameshift variant | ACACATGTAGTTG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7675076 | frameshift variant | -/GGTGGGGGCAGCGCCTCAC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7675111 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7675119 | stop gained | GC/AG | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7675234 | stop gained | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 7676059 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7676218 | stop gained | C/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7676229 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.695 | 0.440 | 17 | 7673823 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7674249 | missense variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.200 | 17 | 7676003 | frameshift variant | CA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 7673609 | splice acceptor variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.200 | 17 | 7675101 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.440 | 17 | 7674256 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 7673579 | stop gained | G/A;T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 17 | 7676048 | stop gained | G/A;T | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases | 0.700 | 0 |