MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 324; N. variants: 57
Disease: Epileptic encephalopathy ×
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: rs28934908
rs28934908 		0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2007 2007