DisGeNET - a database of gene-disease associations

List of associated variants

Seizures, C0036572

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
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
rs1364926780	ABCB1	0.882	0.200	7	87550272	missense variant	C/T	snv			5
rs1404008939	ABCB1	0.925	0.200	7	87504324	missense variant	A/C;G	snv	4.0E-06		4
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
rs72653762	ABCC6	0.851	0.240	16	16202006	missense variant	T/C	snv	5.6E-03	4.7E-03	13
rs1569540688	ABCD1 ; BCAP31	0.925	0.240	X	153725586	missense variant	T/C	snv			4
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs587776625	ADGRG1	0.851	0.080	16	57654103	frameshift variant	CAGGACC/-	delins			12
rs397514452	ADK	1.000		10	74670258	missense variant	C/A;T	snv	8.0E-06; 4.0E-06		5
rs11001109	ADK			10	74683339	intron variant	A/G	snv		0.68	1
rs886041116	ADNP	0.776	0.240	20	50892526	stop gained	G/A	snv			13
rs1131692272	AFF3	0.851	0.240	2	100006808	missense variant	C/T	snv			9
rs121912707	ALDH7A1	0.925	0.040	5	126552059	missense variant	C/G	snv	3.6E-04	2.4E-04	3
rs121912708	ALDH7A1	1.000	0.040	5	126583997	stop gained	G/A;C	snv	6.0E-05; 4.0E-06		3
rs140845195	ALDH7A1	1.000	0.040	5	126545020	splice acceptor variant	C/A;T	snv	1.6E-05; 4.0E-06		3
rs750693623	ALDH7A1	1.000	0.040	5	126595165	frameshift variant	C/-	del		5.6E-04	2
rs1444879414	ALDH7A1			5	126595148	frameshift variant	-/T	delins	6.0E-06		1
rs778003597	ALDH7A1			5	126559300	frameshift variant	-/G	delins	8.0E-06	7.0E-06	1
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1009298200	ALG1	0.742	0.400	16	5079077	missense variant	C/G;T	snv		7.0E-06	34
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs398122394	ALG13	0.763	0.240	X	111685040	missense variant	A/G	snv			17
rs1560162116	ALG3	0.882	0.080	3	184242930	missense variant	T/C	snv			5