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 coordination
|
3 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Absent speech
|
72 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Amblyopia
|
29 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Arachnodactyly
|
25 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Ataxia, Truncal
|
13 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Autistic Disorder
|
395 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Broad-based gait
|
24 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Byzanthine arch palate
|
70 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Chronic constipation
|
16 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Coarse facial features
|
33 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Delayed myelination
|
6 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Delayed speech and language development
|
192 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Dystonia
|
97 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
EEG with central focal spikes
|
2 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
EEG with irregular generalized spike and wave complexes
|
1 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Electroretinogram abnormal
|
10 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Encephalopathy, CTCAE 3.0
|
24 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Enuresis
|
3 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2
|
7 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Esotropia
|
39 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Feeding difficulties
|
62 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Frequent falls
|
4 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Gait abnormality
|
23 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Gait imbalance
|
24 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
Gait, Unsteady
|
14 | 0.716 | 0.440 | 5 | 161331056 | missense variant | C/T | snv | 0.700 | 0 |