PTPN11, protein tyrosine phosphatase non-receptor type 11, 5781
N. diseases: 702; N. variants: 98
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 1.000 | 19 | 2001 | 2018 | ||||||
|
1.000 | 0.120 | 12 | 112455968 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.752 | 0.280 | 12 | 112473023 | missense variant | A/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.742 | 0.320 | 12 | 112450398 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 112453274 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 12 | 112419116 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.200 | 12 | 112472981 | missense variant | G/A;T | snv | 3.2E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 12 | 112489092 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 12 | 112450475 | stop gained | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 12 | 112450352 | missense variant | A/C;G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.240 | 12 | 112450354 | missense variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.790 | 0.240 | 12 | 112450408 | missense variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.658 | 0.520 | 12 | 112453279 | missense variant | G/C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 12 | 112453271 | frameshift variant | GTACG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 12 | 112453320 | frameshift variant | CTGGTG/AAGAACACAGGGGAGAGCA | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases | 0.700 | 0 |