DisGeNET - a database of gene-disease associations

List of associated variants

Complex partial seizure with impairment of consciousness, C0270834

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
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs1555462347	USP7	0.716	0.520	16	8901028	frameshift variant	CT/-	delins			34
rs1057524820	SCN8A	0.776	0.280	12	51765746	missense variant	G/A;T	snv			33
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30
rs771379232	MTHFS ; ST20-MTHFS	0.790	0.120	15	79845338	stop gained	G/A	snv	2.0E-05	3.5E-05	15
rs753635972	ST20-MTHFS ; MTHFS	0.790	0.120	15	79845388	missense variant	C/T	snv	3.2E-05	2.1E-05	15
rs869312825	GNB1	0.827	0.120	1	1804548	start lost	T/C	snv			11
rs869312822	GNB1	0.827	0.200	1	1806514	missense variant	A/C	snv			8
rs587779411	CLN8	0.851	0.160	8	1780498	missense variant	C/G;T	snv	4.0E-06		5
rs143730802	CLN8	0.882	0.160	8	1771055	start lost	A/G	snv	1.2E-05	7.0E-06	4