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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Absent speech
|
72 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Acid reflux
|
58 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Alternating Exotropia
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Cortical visual impairment
|
27 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Ectopic Tissue
|
4 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
EEG with generalized slow activity
|
6 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Hydrocephalus
|
37 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Hyperextensibility at elbow
|
7 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Hyperextensibility at wrists
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Hyperpigmented/hypopigmented macules
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Hypopigmentation disorder
|
15 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Infantile Spasm
|
39 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Irritation - emotion
|
14 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Long narrow head
|
26 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Macular hypopigmented whorls, streaks, and patches
|
1 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
MEGALENCEPHALY, AUTOSOMAL DOMINANT
|
5 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Myopia
|
167 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
No social interaction
|
3 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Optic Disk Drusen
|
3 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Profound global developmental delay
|
20 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Prominent forehead
|
25 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Salaam Seizures
|
9 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Seizures
|
553 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Tonic - clonic seizures
|
32 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 | |||||||||
Wide spaced nipples
|
19 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 0 |