rs28934904, MECP2

N. diseases: 9
Source: ALL
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
CUI: C0035372
Disease: Rett Syndrome
368 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.880 1.000 42 1999 2017
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.700 1.000 11 2000 2016
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
135 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.700 0
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.700 0
Rett Syndrome, Zappella Variant
CUI: C2677682
Disease: Rett Syndrome, Zappella Variant
2 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.030 1.000 3 2006 2015
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005
Mental Retardation, X-Linked
CUI: C1136249
Disease: Mental Retardation, X-Linked
13 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.010 1.000 1 2005 2005