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. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mental Retardation, X-Linked, Syndromic 13
|
27 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.800 | 1.000 | 10 | 2000 | 2007 | |||||
Rett Syndrome
|
368 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.710 | 1.000 | 7 | 2002 | 2016 | |||||
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
43 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 8 | 2000 | 2016 | |||||
Abnormal behavior
|
121 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Downward slant of palpebral fissure
|
49 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | ||||||||
hearing impairment
|
337 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Microcephaly (physical finding)
|
246 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Micrognathism
|
53 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Motor delay
|
34 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Poor school performance
|
411 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Postnatal growth retardation
|
11 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Stenosis of external auditory canal
|
4 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 0 | ||||||||
Intellectual Disability
|
159 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.050 | 1.000 | 5 | 2002 | 2016 | |||||
Mental Retardation
|
98 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.030 | 1.000 | 3 | 2002 | 2005 | |||||
Mental Retardation, X-Linked
|
13 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.020 | 1.000 | 2 | 2002 | 2016 | |||||
Autism Spectrum Disorders
|
331 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
Behavioral and psychological symptoms of dementia
|
9 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
Epileptic encephalopathy
|
126 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
Mental Retardation, X-Linked 79
|
1 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
Mild Mental Retardation
|
56 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
Muscle Spasticity
|
48 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
Pervasive Development Disorder
|
49 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
Severe intellectual disability
|
74 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 |