rs61748420, MECP2

N. diseases: 5
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 0.200 X 154031329 missense variant G/A;T snv 0.700 0
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.851 0.200 X 154031329 missense variant G/A;T snv 0.010 1.000 1 2001 2001
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.851 0.200 X 154031329 missense variant G/A;T snv 0.700 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 0.200 X 154031329 missense variant G/A;T snv 0.700 1.000 5 2001 2016
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.851 0.200 X 154031329 missense variant G/A;T snv 0.020 1.000 2 2001 2016