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 1
|
83 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 17 | 2001 | 2017 | |||||
Juvenile Myelomonocytic Leukemia
|
70 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 13 | 2003 | 2017 | |||||
Noonan Syndrome
|
187 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 12 | 2003 | 2019 | |||||
Gastroesophageal reflux disease
|
52 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2006 | |||||
Pediatric failure to thrive
|
122 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2006 | |||||
Short stature
|
292 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2006 | |||||
Adult Hodgkin Lymphoma
|
27 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
Childhood Hodgkin Lymphoma
|
29 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
Hodgkin Disease
|
148 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
Hydrops Fetalis
|
14 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
Abnormality of coagulation
|
15 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Abnormality of the face
|
24 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Broad neck
|
10 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Cardiovascular Abnormalities
|
12 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Cryptorchidism
|
80 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Global developmental delay
|
553 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Leopard Syndrome 1
|
26 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Metachondromatosis
|
29 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Neck webbing
|
19 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
Pulmonary Stenosis
|
40 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 |