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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
|
19 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 1.000 | 4 | 2015 | 2017 | ||||||
2-3 toe syndactyly
|
16 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Abnormal delivery
|
37 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Abnormality of mitochondrial metabolism
|
3 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Almond-shaped palpebral fissure
|
1 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Astigmatism
|
45 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Brachycephaly
|
20 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Broad proximal phalanx of the hallux
|
1 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Byzanthine arch palate
|
70 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Cerebral atrophy
|
44 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Congenital sensorineural hearing loss
|
17 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Cortical visual impairment
|
27 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Depressed nasal bridge
|
39 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Developmental regression
|
80 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Dyskinetic syndrome
|
42 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Electroencephalogram abnormal
|
27 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Gastrointestinal dysmotility
|
13 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Gastroparesis
|
7 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Generalized hypotonia
|
164 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Hair whorls
|
5 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Hand clenching
|
9 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Highly arched eyebrow
|
14 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Hip Dysplasia
|
16 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 | |||||||||
Hyperactive patellar reflex
|
3 | 0.695 | 0.520 | 4 | 122934574 | inframe deletion | CAA/- | delins | 0.700 | 0 |