PTEN, phosphatase and tensin homolog, 5728
N. diseases: 983; N. variants: 56
Source: BEFREE ×
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.360 | 10 | 87933145 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.820 | 1.000 | 2 | 1997 | 2015 | ||||||||
|
0.776 | 0.160 | 10 | 87957955 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.810 | 1.000 | 1 | 1997 | 2017 | ||||||||
|
0.667 | 0.600 | 10 | 87961095 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.730 | 1.000 | 3 | 1997 | 2015 | ||||||||
|
0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.710 | 1.000 | 1 | 1997 | 2016 | ||||||||
|
0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.710 | 1.000 | 1 | 1997 | 2013 | |||||||
|
0.742 | 0.360 | 10 | 87960957 | stop gained | A/G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.710 | 1.000 | 1 | 1997 | 2008 | |||||||
|
0.827 | 0.200 | 10 | 87933165 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.710 | 0.857 | 1 | 2000 | 2013 | ||||||||
|
0.851 | 0.320 | 10 | 87933175 | stop gained | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.925 | 0.080 | 10 | 87894089 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.752 | 0.200 | 10 | 87933144 | stop gained | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 |