DisGeNET - a database of gene-disease associations

List of shared variants

Epilepsy, C0014544

Disease: Seizures

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
rs1800497	ANKK1	0.620	0.400	11	113400106	missense variant	G/A	snv	0.26	0.26	56
rs2273697	ABCC2	0.776	0.360	10	99804058	missense variant	G/A	snv	0.19	0.19	11
rs2298771	LOC102724058 ; SCN1A ; SCN1A-AS1	0.925	0.040	2	166036278	missense variant	C/T	snv	0.73	0.74	3
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			46
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			30
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs368001837	KCTD7	0.851	0.080	7	66638895	missense variant	C/T	snv	1.6E-05	1.4E-05	6
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs56275071	GLUD1	0.882	0.120	10	87062757	missense variant	G/A	snv			4
rs587777057	GNAO1	0.827	0.040	16	56336744	missense variant	G/A	snv			8
rs587777308	GABRA1	0.763	0.040	5	161873196	missense variant	G/A	snv			14
rs63750231	PSEN1	0.689	0.160	14	73198100	missense variant	A/C;G	snv			23
rs74315390	KCNQ2	0.790	0.120	20	63439609	missense variant	C/G;T	snv			8
rs763000109	TNF	0.827	0.240	6	31575788	missense variant	C/G;T	snv	4.1E-06; 1.6E-05		9
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
rs2279020	GABRA1	1.000	0.040	5	161895883	non coding transcript exon variant	G/A	snv	0.62	0.63	2
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs211037	GABRG2	0.742	0.240	5	162101274	synonymous variant	C/T	snv	0.28	0.31	14
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	63