DisGeNET - a database of gene-disease associations

List of associated variants

Tonic - clonic seizures, C0494475

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
rs546151500	ZNF142	0.925	0.080	2	218643341	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		5
rs7588807	INHA	0.925	0.080	2	219574380	intron variant	G/T	snv		0.48	2
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs869312825	GNB1	0.827	0.120	1	1804548	start lost	T/C	snv			11
rs137852776	EFHC1	0.827	0.080	6	52452799	missense variant	T/C	snv	3.5E-03	2.4E-03	5
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs864309505	TPP1	0.807	0.200	11	6615220	missense variant	T/G	snv			10