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
rs211037	GABRG2	0.742	0.240	5	162101274	synonymous variant	C/T	snv	0.28	0.31	14
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		19
rs763000109	TNF	0.827	0.240	6	31575788	missense variant	C/G;T	snv	4.1E-06; 1.6E-05		9
rs1064797103	OTUD6B	0.827	0.280	8	91078597	missense variant	A/G	snv			9
rs759317757	OTUD6B	0.807	0.280	8	91078416	frameshift variant	TTAAC/-	delins			12
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
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	31
rs2273697	ABCC2	0.776	0.360	10	99804058	missense variant	G/A	snv	0.19	0.19	11
rs2606345	CYP1A1	0.732	0.360	15	74724835	intron variant	C/A	snv		0.46	16
rs3755724	TIMP4 ; SYN2	0.790	0.360	3	12159406	intron variant	C/T	snv		0.31	8
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs1800497	ANKK1	0.620	0.400	11	113400106	missense variant	G/A	snv	0.26	0.26	56
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs57095329	MIR3142HG	0.677	0.480	5	160467840	intron variant	A/G	snv		7.8E-02	25
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs1799971	OPRM1	0.559	0.600	6	154039662	missense variant	A/G	snv	0.19	0.12	95
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	63
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
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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614