DisGeNET - a database of gene-disease associations

List of associated variants

Seizures, C0036572

Source: CURATED ×

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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
rs772037717	FBXL4	0.882	0.080	6	98875675	missense variant	A/G	snv	1.2E-05	1.4E-05	8
rs1555483699	GRIN2A	0.851	0.120	16	9768994	missense variant	C/T	snv			10
rs751455326	GRIN2A	1.000		16	9768993	missense variant	G/A;T	snv	4.0E-06		2
rs869320632	LMAN2L	0.925	0.040	2	96739883	missense variant	C/T	snv			1
rs28937874	LGI1	1.000	0.120	10	93797277	missense variant	A/C	snv			1
rs1064795760	BICD2	0.882	0.080	9	92719007	inframe deletion	ATT/-	del			14
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
rs368313959	OTUD6B	0.851	0.080	8	91078383	stop gained	C/T	snv	1.6E-04	1.0E-04	8
rs1064797102	OTUD6B-AS1 ; OTUD6B	0.827	0.120	8	91071136	splice acceptor variant	A/G	snv			15
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs768823392	SPG7	0.827	0.120	16	89546657	coding sequence variant	GGCGGGAGA/-	delins	2.6E-04	4.2E-04	10
rs1057517891	POLG			15	89333346	stop gained	G/A	snv			1
rs113994094	POLG	0.827	0.080	15	89330184	missense variant	G/A	snv	1.5E-03	1.6E-03	6
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	21
rs113994096	POLG	0.827	0.080	15	89325639	missense variant	G/A	snv	1.5E-03	1.6E-03	7
rs121918054	POLG	0.807	0.240	15	89323460	missense variant	C/G;T	snv	6.9E-04; 4.0E-06		7
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	5
rs113994098	POLG	0.742	0.320	15	89321792	missense variant	C/T	snv	1.5E-04	2.7E-04	10
rs201477273	POLG	0.851	0.120	15	89320857	missense variant	G/A	snv	6.8E-04	3.4E-04	4
rs886041276	POLG			15	89319275	frameshift variant	CCTCAGTCCTGTCCACTGGGAGGTTCAACTCCCTCACCAGCCAC/-	delins			1
rs778573169	POLG	1.000	0.080	15	89319225	splice region variant	T/A;C	snv	4.0E-05		2
rs368435864	POLG	1.000	0.080	15	89318736	missense variant	C/A;T	snv	1.2E-05; 2.0E-05		2
rs886041125	ANKRD11	0.807	0.440	16	89284635	frameshift variant	GTTTT/-	delins		7.0E-06	12
rs879253753	ANKRD11	0.851	0.280	16	89280526	frameshift variant	-/T	delins			19