RET, ret proto-oncogene, 5979
N. diseases: 607; N. variants: 162
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 | 0.080 | 10 | 43100496 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 43102444 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 43105186 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 43123732 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 43126678 | frameshift variant | T/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 43114478 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 43102608 | missense variant | G/A;C | snv | 4.8E-05 | 6.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 10 | 43100480 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 43119575 | missense variant | C/T | snv | 8.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.160 | 10 | 43106550 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.030 | 1.000 | 3 | 1996 | 1998 | |||||||
|
0.925 | 0.080 | 10 | 43113623 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.020 | 0.500 | 2 | 1994 | 1998 | ||||||||
|
0.658 | 0.280 | 10 | 43114671 | missense variant | G/A;C;T | snv | 0.21 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||||
|
0.925 | 0.160 | 10 | 43119646 | synonymous variant | C/T | snv | 4.5E-02 | 3.9E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
0.827 | 0.160 | 10 | 43113627 | missense variant | T/A;C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.710 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.790 | 0.280 | 10 | 43113628 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.807 | 0.280 | 10 | 43113628 | missense variant | GC/AT;CT;TT | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||||
|
0.827 | 0.160 | 10 | 43113656 | missense variant | C/G;T | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.730 | 1.000 | 3 | 1998 | 2009 | ||||||||
|
0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.020 | 1.000 | 2 | 1999 | 2009 | |||||||
|
0.882 | 0.240 | 10 | 43114546 | missense variant | C/T | snv | 3.2E-04 | 3.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.080 | 10 | 43109502 | intron variant | A/G | snv | 0.79 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 10 | 43088808 | intron variant | T/C | snv | 0.43 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 10 | 43087702 | intron variant | A/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 10 | 43099005 | intron variant | T/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 |