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
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.900 | 1.000 | 42 | 1999 | 2017 | |||||||
Seizures
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.710 | 1.000 | 6 | 2000 | 2019 | |||||||
Muscle hypotonia
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 1.000 | 19 | 1993 | 2016 | |||||||
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 1.000 | 10 | 1999 | 2016 | |||||||
Cerebral Palsy
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2000 | 2010 | |||||||
Developmental delay (disorder)
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2000 | 2010 | |||||||
Intellectual Disability
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2000 | 2010 | |||||||
Abnormal ocular motility
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Abnormality of the fingertips
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Angelman Syndrome
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Apnea
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Apraxia of Phonation
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Autistic behavior
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Biting self
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Bruxism
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Chronic constipation
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Developmental regression
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Diabetes Mellitus, Insulin-Dependent
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Dry skin
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
EEG with centrotemporal focal spike waves
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Electroencephalogram abnormal
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Facial grimacing
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Flatfoot
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
Full cheeks
|
0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 |