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
rs1131692272	AFF3	0.851	0.240	2	100006808	missense variant	C/T	snv			8
rs1562846694	ACTL6B ; TFR2	0.763	0.320	7	100643252	inframe deletion	TTCGCTCCACGCACT/-	delins			32
rs1553920383	PPP3CA	0.925		4	101032350	frameshift variant	TC/-	delins			3
rs869312873	NALCN	0.925	0.200	13	101089846	splice region variant	C/T	snv		7.0E-06	5
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs1064796765	DYNC1H1	0.763	0.240	14	102002950	missense variant	G/A	snv			19
rs1057518961	DYNC1H1	0.925	0.040	14	102012450	missense variant	C/T	snv			5
rs1060499740	CINP			14	102348559	stop lost	A/C	snv			3
rs866294686	TRIM8 ; LOC105378460	0.683	0.480	10	102657073	stop gained	C/A;T	snv			43
rs1057524237	COL11A1	0.851	0.280	1	102915626	splice region variant	C/T	snv			7
rs750371878	HACE1	0.925		6	104796666	stop gained	G/A	snv	4.0E-06	1.4E-05	4
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs759190203	GCM2	1.000	0.040	6	10876442	splice donor variant	-/A	delins	4.0E-06		2
rs878853280	FRRS1L	1.000		9	109137529	stop gained	G/A	snv			4
rs878853281	FRRS1L	1.000		9	109141360	stop gained	C/T	snv	4.0E-06		4
rs878853282	FRRS1L	1.000		9	109141466	inframe deletion	CCT/-	delins	2.0E-05	2.7E-04	4
rs878853283	FRRS1L	1.000		9	109149675	frameshift variant	-/T	delins			4
rs1555303073	COL4A1	0.851	0.120	13	110176912	missense variant	C/T	snv			6
rs80356726	TARDBP	0.763	0.120	1	11022352	splice acceptor variant	G/A	snv	4.0E-06		1
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs869312666	MTOR	0.925	0.160	1	11129789	missense variant	A/C	snv			4
rs869312671	MTOR ; MTOR-AS1	0.882	0.160	1	11144735	missense variant	C/T	snv			5
rs398122394	ALG13	0.763	0.240	X	111685040	missense variant	A/G	snv			16
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	1
rs1553709380	ATP6V1A	0.925	0.040	3	113778833	missense variant	C/G	snv			1