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
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs1556914274	HUWE1	0.790	0.440	X	53537626	missense variant	G/A	snv			13
rs886041125	ANKRD11	0.807	0.440	16	89284635	frameshift variant	GTTTT/-	delins		7.0E-06	12
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	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
rs886043994	ASXL1	0.776	0.400	20	32433355	frameshift variant	GT/-	delins			21
rs869320624	EMC1-AS1 ; EMC1	0.776	0.400	1	19220814	frameshift variant	AAGG/-	delins		1.4E-05	13
rs1064796460	TUBA1A	0.790	0.400	12	49185197	missense variant	C/G;T	snv			8
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	5
rs1553759139	PDCD10	0.925	0.400	3	167687610	splice region variant	C/T	snv			5
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	1
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs1364709483	TBX2-AS1 ; TBX2	0.701	0.360	17	61400235	missense variant	G/A	snv		6.5E-05	36
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs387907141	ARID1B	0.752	0.360	6	157181137	stop gained	C/T	snv			24
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	21
rs1556620697	SH2D1A ; STAG2	0.827	0.360	X	124365758	splice region variant	C/G	snv			10
rs1555525115	ANKRD11	0.851	0.360	16	89279567	frameshift variant	GGCTTCGG/-	delins			5
rs1557036768	HUWE1	0.708	0.320	X	53647390	missense variant	C/T	snv			44
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			40