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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Birth length less than 3rd percentile
|
13 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Blepharoptosis
|
49 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Bradycardia
|
2 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Broad-based gait
|
24 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Decreased muscle mass
|
12 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Decreased tendon reflex
|
13 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Decreased vibratory sense
|
8 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Delayed speech and language development
|
192 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Developmental stagnation
|
2 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Dysautonomia
|
9 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Fatigue
|
19 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Feeding difficulties
|
62 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Gastrointestinal dysmotility
|
13 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Generalized hypotonia
|
164 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Intermittent painful muscle spasms
|
1 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Intrauterine retardation
|
56 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
|
19 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Mitochondrial respiratory chain defects
|
4 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Motor delay
|
34 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Muscle Weakness
|
42 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Myopathic facies
|
15 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Nasal, dysarthic speech
|
3 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Peripheral Neuropathy
|
22 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Progressive inability to walk
|
3 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | |||||||||
Prolonged neonatal jaundice
|
14 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 |