rs61748404, MECP2

N. diseases: 3
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 0.882 0.120 X 154031373 missense variant G/C;T snv 0.810 1.000 26 1999 2017
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.882 0.120 X 154031373 missense variant G/C;T snv 0.700 1.000 8 2000 2016
Macrocephaly
CUI: C0221355
Disease: Macrocephaly
10 0.882 0.120 X 154031373 missense variant G/C;T snv 0.010 1 2013 2013