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
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	4
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	1
rs768823392	SPG7	0.827	0.120	16	89546657	coding sequence variant	GGCGGGAGA/-	delins	2.6E-04	4.2E-04	10
rs1568925507	KCNQ2	1.000		20	63438654	inframe insertion	-/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC	delins			5
rs1057516032	ATP1A3	1.000		19	41970211	protein altering variant	AGTCT/GA	delins			4
rs869312699	GRIK4	0.925	0.160	11	120986102	protein altering variant	CTGGCGCAGGAGGCC/GCT	delins			4
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs1064795760	BICD2	0.882	0.080	9	92719007	inframe deletion	ATT/-	del			14
rs746200792	SZT2	0.925	0.120	1	43437254	inframe deletion	TGT/-	delins			8
rs118192212	KCNQ2	0.925	0.040	20	63439610	inframe deletion	AAG/-	delins			6
rs1554943158	DEAF1	0.882	0.040	11	681045	inframe deletion	CTT/-	delins			6
rs587782991	PURA	0.882	0.080	5	140114991	inframe deletion	TCT/-	delins			6
rs587783000	PURA	0.925	0.080	5	140114444	inframe deletion	TCG/-	del			5
rs864309661	WDR45	1.000	0.080	X	49077715	inframe deletion	CCA/-	delins			4
rs878853282	FRRS1L	1.000		9	109141466	inframe deletion	CCT/-	delins	2.0E-05	2.7E-04	4
rs1553548194	SCN1A-AS1 ; SCN1A	1.000	0.080	2	166048938	inframe deletion	AAT/-	delins			3
rs587784440	SPTAN1	0.925	0.040	9	128632261	inframe deletion	ACCAGCTGG/-;ACCAGCTGGACCAGCTGG	delins			3
rs1555206402	HMBS	0.790	0.320	11	119093274	stop lost	GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/-	delins			26
rs1060499740	CINP			14	102348559	stop lost	A/C	snv			3
rs869312825	GNB1	0.827	0.120	1	1804548	start lost	T/C	snv			11
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs1556620697	SH2D1A ; STAG2	0.827	0.360	X	124365758	splice region variant	C/G	snv			10
rs398122968	TBC1D24	0.882	0.280	16	2499425	splice region variant	G/A	snv			9