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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Rett Syndrome
|
368 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.840 | 1.000 | 30 | 1999 | 2017 | ||||||
Epilepsy
|
339 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
Abdomen distended
|
6 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Abdominal Pain
|
18 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Actual Aspiration
|
8 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Bruxism
|
9 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Cerebellar atrophy
|
67 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Chronic constipation
|
16 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Deglutition Disorders
|
50 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Developmental regression
|
80 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Diffuse cerebral atrophy
|
2 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
EEG with generalized slow activity
|
6 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
43 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Generalized hypotonia
|
164 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Global developmental delay
|
553 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Head Banging
|
3 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Laryngomalacia
|
18 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Low set ears
|
64 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Melanocortin 4 Receptor Deficiency
|
28 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Myopia
|
167 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Premature Birth
|
50 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Premature delivery because of cervical insufficiency or membrane fragility
|
1 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Prolonged neonatal jaundice
|
14 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Reduced tendon reflexes
|
8 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
Repetitive compulsive behavior
|
4 | 0.732 | 0.320 | X | 154032268 | missense variant | G/A;C | snv | 0.700 | 0 |