MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Disease: Rett Syndrome ×
Source: BEFREE ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267608563
rs267608563 		0.925 0.080 X 154030763 missense variant G/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012