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
rs758946412	PCDH19	0.790	0.240	X	100407507	frameshift variant	G/-;GG	delins			12
rs1569315842	PCDH19	1.000	0.080	X	100408107	frameshift variant	-/G	delins			1
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs559979281	CLASP1 ; RNU4ATAC ; LOC107985942	0.742	0.440	2	121530892	non coding transcript exon variant	C/G;T	snv	7.7E-06; 2.3E-05; 3.5E-04		23
rs863225422	RNU4ATAC ; CLASP1 ; LOC107985942	0.742	0.440	2	121530927	non coding transcript exon variant	G/A	snv	4.6E-05; 7.7E-06	4.9E-05	23
rs118192250	KCNQ3	0.851	0.120	8	132175457	missense variant	C/A	snv			5
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs2486253	KCNJ10	0.882	0.080	1	160039629	3 prime UTR variant	A/C;T	snv			3
rs112894280	GABRG2	1.000	0.080	5	162093956	missense variant	A/G	snv	4.0E-06	1.4E-05	1
rs797044927	SCN2A	0.925	0.080	2	165388746	missense variant	G/A	snv			3
rs121918622	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.790	0.080	2	165992332	missense variant	C/A;T	snv	4.0E-06		9
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			26
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs869312826	GNB1	0.882	0.080	1	1787378	missense variant	C/T	snv			6
rs869312825	GNB1	0.827	0.120	1	1804548	start lost	T/C	snv			11
rs1553798675	FGF12	0.925	0.080	3	192335441	missense variant	C/T	snv			4
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
rs376103091	EARS2	0.851	0.200	16	23544677	missense variant	G/A	snv	1.5E-04	2.0E-04	10
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs4906902	GABRB3	0.724	0.200	15	26774621	intron variant	A/G	snv		0.15	14
rs1065852	NDUFA6-DT ; LOC112268294 ; CYP2D6	0.695	0.360	22	42130692	missense variant	G/A	snv	0.21	0.19	19
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34