DisGeNET - a database of gene-disease associations

List of associated variants

ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS, C1968556

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
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			29
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		17
rs61749721	MECP2	0.732	0.200	X	154031065	stop gained	G/A	snv			15
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			14
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		12
rs61752992	MECP2	0.807	0.120	X	154030621	splice acceptor variant	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/-	delins			9
rs61749715	MECP2	0.851	0.120	X	154031154	missense variant	G/A;C	snv			8
rs61751362	MECP2	0.790	0.160	X	154030948	stop gained	G/A;C	snv	1.6E-05		8
rs61750241	MECP2	0.807	0.080	X	154031022	frameshift variant	C/-	delins			7
rs179363900	MECP2	0.807	0.080	X	154031374	missense variant	G/C	snv	5.5E-06	1.9E-05	6
rs61748421	MECP2	0.807	0.200	X	154031326	stop gained	G/A;T	snv			6
rs28934904	MECP2	0.776	0.200	X	154031431	missense variant	G/A;C;T	snv			5
rs1557135315	MECP2	0.851	0.080	X	154030627	splice acceptor variant	GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/-	delins			4
rs61748420	MECP2	0.851	0.200	X	154031329	missense variant	G/A;T	snv			3
rs63749748	MECP2	0.882	0.080	X	154030628	splice acceptor variant	TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/-	delins			3
rs1557135793	MECP2	0.925	0.080	X	154030691	frameshift variant	G/-;GG	delins			2
rs1557136332	MECP2	0.925	0.080	X	154030988	frameshift variant	G/-	delins			2
rs267608428	MECP2	0.925	0.080	X	154032464	frameshift variant	CT/-	delins			2
rs267608469	MECP2	0.925	0.080	X	154031446	stop gained	G/A;C	snv			2
rs267608488	MECP2	0.925	0.080	X	154031339	frameshift variant	CC/-	delins			2
rs61748390	MECP2	0.925	0.080	X	154031427	missense variant	G/A;C	snv			2
rs61748404	MECP2	0.882	0.120	X	154031373	missense variant	G/C;T	snv			2
rs61748408	MECP2	0.925	0.080	X	154031360	missense variant	G/A;C;T	snv			2