DisGeNET - a database of gene-disease associations

List of shared variants

Epilepsy, C0014544

Disease: Seizures

Source: ALL

Results per page

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
rs1130183	KCNJ10	0.827	0.160	1	160041722	missense variant	G/A	snv	4.6E-02	4.7E-02	6
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1105879	UGT1A9 ; UGT1A6 ; UGT1A7 ; UGT1A10 ; UGT1A8	0.790	0.240	2	233693556	missense variant	A/C	snv	0.35	0.34	11
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs121918622	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.790	0.080	2	165992332	missense variant	C/A;T	snv	4.0E-06		9
rs121918799	SCN1A-AS1 ; SCN1A ; LOC102724058	0.752	0.120	2	166015636	missense variant	G/C	snv	1.7E-03	1.6E-03	14
rs145999922	SLC19A3	0.882	0.040	2	227699378	missense variant	A/G	snv	4.4E-05	4.2E-05	5
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs2298771	LOC102724058 ; SCN1A ; SCN1A-AS1	0.925	0.040	2	166036278	missense variant	C/T	snv	0.73	0.74	3
rs797044927	SCN2A	0.925	0.080	2	165388746	missense variant	G/A	snv			3
rs869320632	LMAN2L	0.925	0.040	2	96739883	missense variant	C/T	snv			4
rs1553709380	ATP6V1A	0.925	0.040	3	113778833	missense variant	C/G	snv			3
rs3755724	TIMP4 ; SYN2	0.790	0.360	3	12159406	intron variant	C/T	snv		0.31	8
rs121909674	GABRG2	0.790	0.080	5	162153132	stop gained	C/T	snv			8
rs121912707	ALDH7A1	0.925	0.040	5	126552059	missense variant	C/G	snv	3.6E-04	2.4E-04	3
rs211037	GABRG2	0.742	0.240	5	162101274	synonymous variant	C/T	snv	0.28	0.31	14
rs2279020	GABRA1	1.000	0.040	5	161895883	non coding transcript exon variant	G/A	snv	0.62	0.63	2
rs57095329	MIR3142HG	0.677	0.480	5	160467840	intron variant	A/G	snv		7.8E-02	25
rs587777308	GABRA1	0.763	0.040	5	161873196	missense variant	G/A	snv			14
rs6295	HTR1A	0.645	0.200	5	63962738	intron variant	C/G	snv		0.49	40
rs1799971	OPRM1	0.559	0.600	6	154039662	missense variant	A/G	snv	0.19	0.12	95
rs1800629	TNF	0.472	0.920	6	31575254	upstream gene variant	G/A	snv	0.12	0.14	169
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs763000109	TNF	0.827	0.240	6	31575788	missense variant	C/G;T	snv	4.1E-06; 1.6E-05		9