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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Abdomen distended
|
6 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Abnormal neuron morphology
|
3 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Abnormal oral frenulum morphology
|
1 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Abnormal posture
|
7 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Absent speech
|
72 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Aplastic/hypoplastic toenail
|
1 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Brachycephaly
|
20 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Byzanthine arch palate
|
70 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Cellulitis
|
1 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Central Apnea
|
2 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Cerebral white matter atrophy
|
11 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Clinodactyly of the 5th finger
|
39 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Clinodactyly of the 5th toe
|
4 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Constipation
|
57 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Dyspnea
|
26 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Dystonia
|
97 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
EEG with occipital slowing
|
1 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Elevated C-reactive protein level
|
2 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Esotropia
|
39 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Exaggerated startle response
|
4 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Failure to thrive in infancy
|
12 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Fatigue
|
67 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Flat occiput
|
6 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Gastrostomy tube feeding in infancy
|
19 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 |