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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs368001837	KCTD7	0.851	0.080	7	66638895	missense variant	C/T	snv	1.6E-05	1.4E-05	6
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs1064797103	OTUD6B	0.827	0.280	8	91078597	missense variant	A/G	snv			9
rs368313959	OTUD6B	0.851	0.080	8	91078383	stop gained	C/T	snv	1.6E-04	1.0E-04	8
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs121909731	GLUD1	0.851	0.120	10	87057692	missense variant	G/A;C	snv	4.0E-06		7
rs2273697	ABCC2	0.776	0.360	10	99804058	missense variant	G/A	snv	0.19	0.19	11
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs56275071	GLUD1	0.882	0.120	10	87062757	missense variant	G/A	snv			4
rs1800497	ANKK1	0.620	0.400	11	113400106	missense variant	G/A	snv	0.26	0.26	56
rs63750231	PSEN1	0.689	0.160	14	73198100	missense variant	A/C;G	snv			23
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	31
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs2606345	CYP1A1	0.732	0.360	15	74724835	intron variant	C/A	snv		0.46	16
rs587777057	GNAO1	0.827	0.040	16	56336744	missense variant	G/A	snv			8
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	63
rs121908225	CACNA1A	0.790	0.120	19	13365448	missense variant	G/A	snv			12
rs117067974	KCNQ2	0.851	0.080	20	63414174	missense variant	C/A;G	snv	2.0E-05; 2.6E-03		5
rs118192211	KCNQ2	0.790	0.080	20	63439644	missense variant	G/A;C	snv			9
rs74315390	KCNQ2	0.790	0.120	20	63439609	missense variant	C/G;T	snv			8
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