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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BETHLEM MYOPATHY 1
|
108 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
Abnormality of muscle fibers
|
2 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Absent reflex
|
16 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Ankle contracture
|
3 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Autistic Disorder
|
395 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Cafe-au-Lait Spots
|
32 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Cryptorchidism
|
80 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Delayed speech and language development
|
192 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Difficulty walking up stairs
|
7 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Dilated ventricles (finding)
|
32 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Dry skin
|
12 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Fatty replacement of skeletal muscle
|
4 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Flexion contracture
|
32 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Flexion contracture - elbow
|
14 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Flexion contracture - wrist
|
4 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Flexion contracture of finger
|
4 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Flexion contracture of hip
|
5 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Gait abnormality
|
23 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Generalized amyotrophy
|
6 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Generalized hypotonia
|
164 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Gowers sign
|
8 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Gross motor development delay
|
59 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Hyperextensibility of the finger joints
|
5 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 | |||||||||
Hyperpigmented nevi and streak
|
1 | 0.752 | 0.240 | 21 | 45989967 | intron variant | C/T | snv | 0.700 | 0 |