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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Abnormal delivery
|
37 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Autistic behavior
|
78 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Cerebellar Dysmetria
|
17 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Delayed fine motor development
|
13 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Difficulty walking
|
30 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Dysarthria
|
54 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Dyskinesias, Paroxysmal
|
3 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Dystonia, Paroxysmal
|
4 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Epileptic encephalopathy
|
126 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Episodic Ataxia
|
9 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Gait, Unsteady
|
14 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Gross motor development delay
|
59 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Headache
|
75 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Impaired cognition
|
348 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Nystagmus
|
95 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Poor speech
|
9 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Primary Caesarian section
|
15 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Recurrent upper respiratory tract infection
|
3 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Seizures
|
553 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
SEIZURES, BENIGN FAMILIAL INFANTILE, 3
|
46 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Tremor, Limb
|
3 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Truncal titubation
|
2 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
65 | 0.742 | 0.320 | 2 | 165310413 | missense variant | C/A;T | snv | 0.800 | 1.000 | 20 | 2009 | 2019 |