MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Rett Syndrome, Zappella Variant ×
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: rs179363900
rs179363900 		0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05
CUI: C2677682
Disease: Rett Syndrome, Zappella Variant
Rett Syndrome, Zappella Variant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs28934904
rs28934904 		0.776 0.200 X 154031431 missense variant G/A;C;T snv
CUI: C2677682
Disease: Rett Syndrome, Zappella Variant
Rett Syndrome, Zappella Variant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0