rs61749715, MECP2

N. diseases: 8
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 0.851 0.120 X 154031154 missense variant G/A;C snv 0.800 1.000 21 1999 2017
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.851 0.120 X 154031154 missense variant G/A;C snv 0.800 1.000 10 2000 2007
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.851 0.120 X 154031154 missense variant G/A;C snv 0.700 1.000 3 2000 2001
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.851 0.120 X 154031154 missense variant G/A;C snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.851 0.120 X 154031154 missense variant G/A;C snv 0.700 0
Irregular breathing
CUI: C0425492
Disease: Irregular breathing
1 0.851 0.120 X 154031154 missense variant G/A;C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.120 X 154031154 missense variant G/A;C snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.851 0.120 X 154031154 missense variant G/A;C snv 0.700 0