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 4
|
30 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 1.000 | 8 | 2007 | 2011 | ||||||
Noonan Syndrome
|
187 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 1.000 | 2 | 2007 | 2007 | ||||||
Abnormality of the sternum
|
11 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Anteverted nostril
|
35 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Blepharoptosis
|
57 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Clinodactyly of the 5th finger
|
39 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Congenital Epicanthus
|
30 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Congenital pectus excavatum
|
36 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Curly hair (finding)
|
7 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Deep palmar crease
|
8 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Deep philtrum
|
5 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Deep plantar creases
|
6 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Depressed nasal bridge
|
39 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Increased nuchal translucency
|
2 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Low anterior hairline
|
17 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Low posterior hairline
|
11 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Low-set, posteriorly rotated ears
|
19 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Nasal bridge wide
|
29 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Noonan Syndrome 1
|
83 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Pulmonary Stenosis
|
40 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Short neck
|
29 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Short nose
|
23 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Short palpebral fissure
|
16 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Short stature
|
292 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Sparse and thin eyebrow
|
8 | 0.776 | 0.200 | 2 | 39023128 | missense variant | C/T | snv | 0.700 | 0 |