DisGeNET - a database of gene-disease associations

List of shared variants

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS, C1968556

Disease: Rett Syndrome, Zappella Variant

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs28934904	MECP2	0.776	0.200	X	154031431	missense variant	G/A;C;T	snv			9
rs179363900	MECP2	0.807	0.080	X	154031374	missense variant	G/C	snv	5.5E-06	1.9E-05	6