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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYSTONIA 12
|
25 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 1.000 | 5 | 2009 | 2014 | ||||||
Ataxia
|
68 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Cerebellar Ataxia
|
120 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
Abnormal posture
|
7 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Abnormality of the dentition
|
16 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
|
38 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
CAPOS syndrome
|
11 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Delayed speech and language development
|
192 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Dyskinetic syndrome
|
42 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Dystonia
|
97 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Impaired cognition
|
348 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Maternal seizures
|
3 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Muscular hypotonia of the trunk
|
25 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Sagittal craniosynostosis
|
13 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Seizures
|
553 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Slurred speech
|
10 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Taurodontism
|
10 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Tooth absent
|
6 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
Widely spaced teeth
|
10 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 |