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 CNS myelination
|
4 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Abnormal timing of pattern reversal visual evoked potentials
|
1 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Bilateral ptosis
|
14 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Breath-holding spell
|
2 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Bulbous nose
|
13 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Byzanthine arch palate
|
70 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Cerebellar vermis hypoplasia
|
26 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Downturned corners of mouth
|
14 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Dystonia, Limb
|
9 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
EEG with generalized epileptiform discharges
|
4 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Extrapyramidal sign
|
7 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Focal T2 hyperintense brainstem lesion
|
2 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Frontal bossing
|
22 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Generalized limb muscle atrophy
|
2 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Global developmental delay
|
553 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Hypoplasia of corpus callosum
|
49 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Impaired smooth pursuit
|
1 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Macrotia
|
18 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Midfrontal capillary hemangioma
|
1 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Misalignment of teeth
|
2 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Multifocal epileptiform discharges
|
9 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Muscle Weakness
|
87 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Muscular hypotonia of the trunk
|
25 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Neurodevelopmental delay
|
24 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
Open mouth (finding)
|
11 | 0.763 | 0.320 | 7 | 100643252 | inframe deletion | TTCGCTCCACGCACT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 |