DisGeNET - a database of gene-disease associations

List of shared variants

Rett Syndrome, C0035372

Disease: Mental Retardation

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
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		23
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs28934904	MECP2	0.776	0.200	X	154031431	missense variant	G/A;C;T	snv			9
rs61748421	MECP2	0.807	0.200	X	154031326	stop gained	G/A;T	snv			9
rs61748420	MECP2	0.851	0.200	X	154031329	missense variant	G/A;T	snv			5
rs61749735	MECP2	0.925	0.200	X	154031162	synonymous variant	G/A;C	snv	5.4E-06; 3.8E-05		3