DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Intellectual Disability ×

Variants associated to the Gene: MECP2 ×

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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
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			40
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		12
rs28934904	MECP2	0.776	0.200	X	154031431	missense variant	G/A;C;T	snv			5
rs61751444	MECP2	0.882	0.080	X	154030903	missense variant	G/A	snv			4
rs61748420	MECP2	0.851	0.200	X	154031329	missense variant	G/A;T	snv			3
rs61751367	MECP2	0.925	0.080	X	154030939	stop gained	G/A	snv			2
rs61748392	MECP2	0.925	0.200	X	154031418	missense variant	T/C	snv			1