MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Rett Syndrome ×
Source: ALL
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: rs61748417
rs61748417 		1.000 0.080 X 154031346 missense variant C/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 21 1999 2017