DisGeNET - a database of gene-disease associations

List of associated variants

Seizures, C0036572

Source: CURATED ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1057516032	ATP1A3	1.000	19	41970211	protein altering variant	AGTCT/GA	delins			4
rs1553510492	TBR1		2	161419040	missense variant	A/G	snv			4
rs1554434435	CAMK2B	1.000	7	44284206	stop gained	G/A	snv			4
rs1557045296	SLC6A8	1.000	X	153693971	missense variant	C/T	snv			4
rs397514582	KCNQ2	0.925	20	63439656	missense variant	C/A;T	snv			4
rs750371878	HACE1	0.925	6	104796666	stop gained	G/A	snv	4.0E-06	1.4E-05	4
rs758432471	GNB1	0.925	1	1806513	missense variant	C/T	snv		7.0E-06	4
rs876661308	MEF2C	1.000	5	88823780	missense variant	T/A	snv			4
rs878853280	FRRS1L	1.000	9	109137529	stop gained	G/A	snv			4
rs878853281	FRRS1L	1.000	9	109141360	stop gained	C/T	snv	4.0E-06		4
rs878853282	FRRS1L	1.000	9	109141466	inframe deletion	CCT/-	delins	2.0E-05	2.7E-04	4
rs878853283	FRRS1L	1.000	9	109149675	frameshift variant	-/T	delins			4
rs1060499740	CINP		14	102348559	stop lost	A/C	snv			3
rs1277383877	PIGT	0.925	20	45421428	missense variant	G/T	snv		7.0E-06	3
rs1461148946	FLNA		X	154354979	missense variant	A/C	snv		9.3E-06	3
rs1553315329	SPAST		2	32116153	stop gained	C/A;T	snv			3
rs1553920383	PPP3CA	0.925	4	101032350	frameshift variant	TC/-	delins			3
rs1559602356	FOXP1	1.000	3	70972577	stop gained	G/A	snv			3
rs1564493599	TRPM3 ; LOC101927086	1.000	9	70598463	missense variant	C/T	snv			3
rs587777219	KCNQ2	0.925	20	63442428	missense variant	G/A	snv			3
rs796052653	KCNQ2 ; LOC105372724	0.925	20	63413526	missense variant	C/A;T	snv			3
rs1057518932	EFTUD2	1.000	17	44855003	missense variant	T/A	snv			2
rs1057519560	MYT1L	1.000	2	1917264	missense variant	A/G	snv			2
rs137939966	MYOCD		17	12752540	missense variant	A/G	snv	1.6E-04	8.4E-04	2
rs1555850151	KCNQ2	1.000	20	63406659	frameshift variant	-/GCCCA	delins			2