Disease | N. SNPs d | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AFEXOME | AFGENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Noonan Syndrome
|
187 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 18 | 2002 | 2009 | ||||||
Noonan Syndrome 1
|
83 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 17 | 2001 | 2017 | ||||||
Juvenile Myelomonocytic Leukemia
|
70 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 7 | 2003 | 2016 | ||||||
Adult Rhabdomyosarcoma
|
12 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Brain Neoplasms
|
204 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Childhood Rhabdomyosarcoma
|
12 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Chronic Lymphocytic Leukemia
|
291 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
Hematologic Neoplasms
|
60 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
Leukemia, Myelocytic, Acute
|
6892 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
NEUROBLASTOMA, SUSCEPTIBILITY TO
|
34 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
NOONAN SYNDROME 3
|
33 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
Rhabdomyosarcoma
|
20 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
Abnormality of coagulation
|
15 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 0 | |||||||||
Abnormality of the face
|
24 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 0 | |||||||||
Broad neck
|
10 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 0 | |||||||||
Cardiovascular Abnormalities
|
12 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 0 | |||||||||
Leopard Syndrome 1
|
26 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 0 | |||||||||
Metachondromatosis
|
29 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 0 | |||||||||
Neck webbing
|
19 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.700 | 0 |