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 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.760 | 1.000 | 24 | 2000 | 2016 | |||||
Dysmorphic features
|
617 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 19 | 1993 | 2016 | |||||
Movement Disorders
|
247 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 19 | 1993 | 2016 | |||||
Muscle hypotonia
|
579 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 19 | 1993 | 2016 | |||||
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
43 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 8 | 2000 | 2013 | |||||
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
|
8 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Autistic Disorder
|
395 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Electroencephalogram abnormal
|
27 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Loss of ability to walk
|
11 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Loss of speech
|
8 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Lubs X-linked mental retardation syndrome
|
8 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Mental Retardation, X-Linked, Syndromic 13
|
27 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Motor delay
|
34 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Motor deterioration
|
1 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Profound intellectual disabilities
|
10 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Progressive microcephaly
|
4 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Seizures
|
553 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Epilepsy
|
339 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
Scoliosis, unspecified
|
135 | 0.752 | 0.240 | X | 154031020 | stop gained | G/A;C | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |