DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Rett Syndrome ×

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
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
rs1557135315	MECP2	0.851	0.080	X	154030627	splice acceptor variant	GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/-	delins			4
rs61748396	MECP2	0.882	0.080	X	154031405	stop gained	G/C;T	snv			4
rs61751444	MECP2	0.882	0.080	X	154030903	missense variant	G/A	snv			4
rs267608426	MECP2	0.882	0.080	X	154032473	frameshift variant	TCTT/-	delins			3
rs61751443	MECP2	0.925	0.080	X	154030911	missense variant	C/A;G;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
rs267608434	MECP2	0.925	0.080	X	154032416	frameshift variant	GG/-	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
rs267608590	MECP2	0.925	0.080	X	154030668	frameshift variant	GG/A	delins			2
rs267608597	MECP2	0.882	0.080	X	154030665	stop gained	GG/TA	mnv			2
rs61748390	MECP2	0.925	0.080	X	154031427	missense variant	G/A;C	snv			2
rs61748408	MECP2	0.925	0.080	X	154031360	missense variant	G/A;C;T	snv			2
rs61749723	MECP2	0.925	0.080	X	154030923	missense variant	G/A;C;T	snv			2
rs61749724	MECP2	1.000	0.080	X	154031217	stop gained	G/A;C	snv	5.4E-06		2
rs61749751	MECP2	0.925	0.080	X	154031075	frameshift variant	G/-;GG;GGG	delins			2
rs61750256	MECP2	0.925	0.080	X	154030969	frameshift variant	CTTT/-	delins			2
rs61751367	MECP2	0.925	0.080	X	154030939	stop gained	G/A	snv			2
rs61751449	MECP2	0.925	0.080	X	154030864	missense variant	G/A;C	snv			2
rs61753965	MECP2	0.925	0.080	X	154030612	stop gained	G/A	snv	1.7E-05		2