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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Underdeveloped nasal alae
|
8 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Sleep Apnea, Obstructive
|
105 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Severe intellectual disability
|
74 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Respiratory distress
|
16 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Nystagmus
|
95 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
No social interaction
|
3 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Neck muscle weakness
|
1 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Nasal bridge wide
|
29 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Muscle Spasticity
|
48 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Muscle Rigidity
|
25 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Motor delay
|
34 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Micrognathism
|
53 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Infantile axial hypotonia
|
8 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Hypoxemia
|
7 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Hyperreflexia
|
19 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Gingival Overgrowth
|
5 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Generalized tonic seizures
|
3 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Generalized hypotonia
|
164 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Gastrostomy tube feeding in infancy
|
19 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Full cheeks
|
4 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Failure to thrive in infancy
|
12 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Exaggerated startle response
|
4 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Epileptic encephalopathy
|
126 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 | |||||||||
Electroencephalogram abnormal
|
27 | 0.752 | 0.360 | 12 | 51699663 | stop gained | T/A;C | snv | 0.700 | 0 |