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 delivery
|
37 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Alagille Syndrome 1
|
48 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Asthma
|
1536 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Bilateral vocal cord paralysis
|
2 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Diplopia
|
5 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Dyspnea
|
26 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Easy fatigability
|
5 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Hypotension, Orthostatic
|
21 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Increased muscle fatiguability
|
3 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Muscular fasciculation
|
2 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Myokymia
|
2 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Myopia
|
167 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Neonatal respiratory distress
|
34 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Poor head control
|
13 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Progressive forgetfulness
|
1 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Progressive muscle weakness
|
15 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Pulmonary Stenosis
|
40 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Reduced tendon reflexes
|
8 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Respiratory Depression
|
5 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Restrictive cardiomyopathy
|
30 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Secondary Caesarian section
|
13 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Short distal phalanx of finger
|
3 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Short palm
|
13 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Short philtrum
|
25 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 | ||||||||
Small hand
|
31 | 0.807 | 0.360 | 20 | 10645355 | splice donor variant | C/A;T | snv | 7.0E-06 | 0.700 | 0 |