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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Abnormality of the somatic nervous system
|
1 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Blepharoptosis
|
57 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2009 | ||||||
Cardiovascular Abnormalities
|
12 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Cerebral Palsy
|
69 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Coronary Aneurysm
|
17 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Deep philtrum
|
5 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Depressed nasal bridge
|
39 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Downward slant of palpebral fissure
|
49 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2009 | ||||||
Episodic vomiting
|
10 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Headache
|
75 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Heart murmur
|
10 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Increased tendency to bruise
|
14 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2009 | ||||||
Juvenile Myelomonocytic Leukemia
|
70 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Leopard Syndrome 1
|
26 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Little's Disease
|
6 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Low set ears
|
64 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 1.000 | 4 | 2002 | 2009 | ||||||
Metachondromatosis
|
29 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Noonan Syndrome
|
187 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.710 | 1.000 | 9 | 2002 | 2017 | ||||||
Noonan Syndrome 1
|
83 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.800 | 1.000 | 17 | 2001 | 2017 | ||||||
NOONAN SYNDROME 3
|
33 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 1.000 | 14 | 2003 | 2009 | ||||||
obsolete Abnormal heart morphology
|
13 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Orbital separation excessive
|
77 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Papilledema
|
1 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | |||||||||
Pediatric failure to thrive
|
122 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 |