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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Large for gestational age
|
10 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Muscular hypotonia of the trunk
|
25 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Neonatal hypoglycemia
|
13 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Neonatal respiratory distress
|
34 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Nystagmus
|
95 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Patent ductus arteriosus
|
56 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Pediatric failure to thrive
|
122 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Plagiocephaly
|
12 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Poor suck
|
31 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Profound global developmental delay
|
20 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Prolonged neonatal jaundice
|
14 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Protrusion of tongue
|
4 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Pulmonary Stenosis
|
40 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Reduced fetal movement
|
17 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Secondary Caesarian section
|
13 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Seizures
|
553 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Short columella
|
5 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Sleep disturbances
|
74 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Small midface
|
24 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Small penis
|
2 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Sparse hair
|
9 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Tongue thrusting
|
2 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 | ||||||||
Vesico-Ureteral Reflux
|
23 | 0.708 | 0.440 | 16 | 576255 | splice donor variant | G/A;C | snv | 5.7E-05 | 0.700 | 0 |