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 conjugate eye movement
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Abnormal subcutaneous fat tissue distribution
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Abnormality of the cerebral ventricles
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Absent speech
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Acid reflux
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Breech Presentation
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Cerebral white matter atrophy
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Cortical visual impairment
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Cutis marmorata
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Delayed CNS myelination
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Dystonia
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Electroencephalogram abnormal
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Exaggerated startle response
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Exotropia
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Hirsutism
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Horizontal Nystagmus
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Hypoplasia of corpus callosum
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Infantile encephalopathy
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Intolerant of heat
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Inversion of nipple (disorder)
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Irritation - emotion
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Late tooth eruption
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Leukoaraiosis
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
Limb hypertonia
|
0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 0.700 | 0 |