DisGeNET - a database of gene-disease associations

List of shared variants

Salaam Seizures, C1527366

Disease: Seizures

Source: ALL

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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
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs1555525115	ANKRD11	0.851	0.360	16	89279567	frameshift variant	GGCTTCGG/-	delins			5
rs797046101	WDR45	0.851	0.280	X	49076469	stop gained	G/A	snv			5