DisGeNET - a database of gene-disease associations

List of associated variants

Epilepsy, C0014544

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
rs71547482		1.000	0.040	6	103600058	intergenic variant	-/TGCAATCT	delins		0.11	1
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs3789243	ABCB1	0.776	0.120	7	87591570	intron variant	A/G	snv		0.50	14
rs199516560	ABCB1	0.851	0.200	7	87600772	5 prime UTR variant	G/A	snv		2.1E-05	5
rs10234411	ABCB1	1.000	0.040	7	87535576	intron variant	T/A;C;G	snv			1
rs6949448	ABCB1	1.000	0.040	7	87512498	intron variant	T/C	snv		0.63	1
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs2273697	ABCC2	0.776	0.360	10	99804058	missense variant	G/A	snv	0.19	0.19	11
rs717620	ABCC2	0.763	0.240	10	99782821	5 prime UTR variant	C/T	snv	0.17	0.15	10
rs1285524167	ABCC8	0.807	0.280	11	17475004	missense variant	C/T	snv	8.0E-06		8
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs28941773	ACADS	0.925	0.120	12	120739168	missense variant	C/T	snv	2.0E-04	2.0E-04	2
rs768441855	ADGRG1	0.925	0.080	16	57655441	stop gained	C/G;T	snv	4.0E-06; 1.2E-05		2
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs10157763	AKT3	1.000	0.040	1	243831739	intron variant	T/A;C	snv			2
rs121912707	ALDH7A1	0.925	0.040	5	126552059	missense variant	C/G	snv	3.6E-04	2.4E-04	3
rs192669225	AMPD2	0.925	0.040	1	109628692	missense variant	G/A	snv			3
rs1800497	ANKK1	0.620	0.400	11	113400106	missense variant	G/A	snv	0.26	0.26	56
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs730882200	ARFGEF2	0.882	0.040	20	48953604	frameshift variant	-/C	delins			3
rs1378981995	ARL13B	0.925	0.200	3	94003751	missense variant	G/A	snv		7.0E-06	3
rs746795369	ATP1A2	0.827	0.080	1	160139969	missense variant	C/A;T	snv	1.2E-05; 4.0E-06		6
rs1558005340	ATP1A2	0.851	0.280	1	160127638	frameshift variant	C/-	del			4