DisGeNET - a database of gene-disease associations

List of shared variants

Angelman Syndrome, C0162635

Disease: Rett Syndrome

Source: CURATED ×

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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
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			14
rs61750241	MECP2	0.807	0.080	X	154031022	frameshift variant	C/-	delins			7
rs28934904	MECP2	0.776	0.200	X	154031431	missense variant	G/A;C;T	snv			5
rs61748396	MECP2	0.882	0.080	X	154031405	stop gained	G/C;T	snv			4
rs267608426	MECP2	0.882	0.080	X	154032473	frameshift variant	TCTT/-	delins			3
rs63749748	MECP2	0.882	0.080	X	154030628	splice acceptor variant	TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/-	delins			3
rs267608434	MECP2	0.925	0.080	X	154032416	frameshift variant	GG/-	delins			2