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 eyelid morphology
|
3 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Absent reflex
|
16 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Acne
|
11 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Asymmetry of the thorax
|
4 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Atrial Flutter
|
2 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Atrial reentry tachycardia
|
2 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Congenital torticollis
|
6 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Decreased muscle mass
|
12 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Difficulty standing
|
14 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Down-sloping shoulders
|
4 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Dyspnea
|
26 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
EMG: myopathic abnormalities
|
16 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Gait imbalance
|
24 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Gross motor development delay
|
59 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Left ventricular noncompaction cardiomyopathy
|
28 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Left-Sided Heart Failure
|
5 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Muscle hypotonia
|
579 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Muscle Weakness Upper Limb
|
3 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
|
230 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Myopathy
|
166 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Myopia
|
167 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Neck webbing
|
19 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Neonatal respiratory distress
|
34 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Re-entrant atrioventricular tachycardia
|
2 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 | |||||||||
Reduced muscle collagen VI
|
2 | 0.742 | 0.320 | 2 | 178533657 | inframe deletion | GTT/- | delins | 0.700 | 0 |