DisGeNET - a database of gene-disease associations

List of shared variants

Rett Syndrome, C0035372

Disease: Epilepsy

Source: BEFREE ×

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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
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	264
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			8
rs28934904	MECP2	0.776	0.200	X	154031431	missense variant	G/A;C;T	snv			5
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			4
rs61751364	MECP2	0.882	0.120	X	154030944	frameshift variant	CGGAT/-	delins			4
rs61749721	MECP2	0.732	0.200	X	154031065	stop gained	G/A	snv			3
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		3
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			2