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
rs746200792	SZT2	0.925	0.120	1	43437254	inframe deletion	TGT/-	delins			8
rs78300695	TREX1 ; ATRIP-TREX1 ; ATRIP	0.882	0.200	3	48466711	frameshift variant	-/G	delins		2.1E-05	8
rs797044521	LOC105372797 ; DYRK1A	0.925		21	37480768	frameshift variant	A/-	delins			8
rs886040857	EIF2S3	0.882	0.240	X	24076757	frameshift variant	TCAA/-	delins			7
rs1057519463	HEXA	0.882	0.240	15	72349160	frameshift variant	GAACTCAT/-	delins			6
rs1064793575	SLC9A6	0.925	0.040	X	136016706	frameshift variant	GT/-	delins			6
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
rs1566446604	CHD8	0.882	0.080	14	21431511	frameshift variant	GAGAGCTTGGCAGTCCA/-	delins			6
rs587782991	PURA	0.882	0.080	5	140114991	inframe deletion	TCT/-	delins			6
rs724159952	LOC105372797 ; DYRK1A			21	37490451	frameshift variant	-/G	delins			6
rs724159954	DYRK1A ; LOC105372797			21	37490353	frameshift variant	-/A	delins			6
rs724159956	DYRK1A			21	37496249	frameshift variant	-/G	delins			6
rs878853325	PPT1	0.851	0.240	1	40089414	frameshift variant	C/-	delins			6
rs1057518821	SLC2A1	1.000		1	42930671	frameshift variant	-/C	delins			5
rs1554776954	STXBP1	1.000		9	127661133	frameshift variant	A/-	delins			5
rs1555525115	ANKRD11	0.851	0.360	16	89279567	frameshift variant	GGCTTCGG/-	delins			5
rs1568925507	KCNQ2	1.000		20	63438654	inframe insertion	-/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC	delins			5
rs878855331	TPP1	0.925	0.120	11	6617319	splice donor variant	AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/-	delins			5
rs1057516032	ATP1A3	1.000		19	41970211	protein altering variant	AGTCT/GA	delins			4
rs113994198	PAFAH1B1	0.925	0.080	17	2666053	frameshift variant	A/-;AA	delins			4
rs118203707	TSC1	0.925	0.200	9	132900828	frameshift variant	TTTG/-	delins			4
rs1565035177	SLC25A22	0.925	0.040	11	792146	frameshift variant	CA/-	delins			4
rs1568070621	BPTF	1.000	0.040	17	67918746	frameshift variant	AG/-	delins			4
rs775835429	SLC19A3	0.925	0.040	2	227702236	frameshift variant	-/TC	delins	2.4E-05	2.1E-05	4