rs28934904, MECP2

N. diseases: 5
Source: BEFREE ×
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
54 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.880 1.000 8 1999 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
250 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
153 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
62 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