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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Abnormality of the humerus
|
2 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Absent reflex
|
16 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
11 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Cerebellar Dysmetria
|
17 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Congenital clubfoot
|
44 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Delayed fine motor development
|
13 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Dysplasia of the femoral head
|
2 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Electromyogram abnormal
|
12 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Gait abnormality
|
23 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Gross motor development delay
|
59 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Limited hip movement
|
2 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Limited shoulder movement
|
2 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Microstomia
|
9 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Mild short stature
|
8 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Muscular hypotonia of the trunk
|
25 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Narrow nasal ridge
|
2 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Radial deviation of hand
|
2 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Romberg's sign positive
|
6 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Spondylolisthesis at L5-S1
|
3 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Spondylolysis
|
2 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Thoracolumbar scoliosis
|
17 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 | |||||||||
Tooth Crowding
|
19 | 0.790 | 0.160 | 18 | 10795003 | splice acceptor variant | C/T | snv | 0.700 | 0 |