DisGeNET - a database of gene-disease associations

List of associated variants

Febrile Convulsions, C0009952

Source: ALL

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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
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs1143627	IL1B	0.605	0.760	2	112836810	5 prime UTR variant	G/A	snv		0.56	47
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs121909323	CACNA1A	0.790	0.160	19	13277122	stop gained	G/A	snv			8
rs786200962	CACNA1A	0.827	0.120	19	13298768	frameshift variant	A/-	del			7
rs786200963	CACNA1A	0.827	0.200	19	13371683	splice region variant	C/T	snv			6
rs1564365418	GRIN1	0.882	0.120	9	137163846	missense variant	G/T	snv			5
rs431905504	SLC6A3	0.776	0.280	5	1411242	splice donor variant	C/T	snv	6.4E-06		9
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs121909673	GABRG2	0.776	0.080	5	162093965	missense variant	G/A	snv			10
rs267606837	GABRG2	0.851	0.080	5	162097839	missense variant	C/G	snv			4
rs211037	GABRG2	0.742	0.240	5	162101274	synonymous variant	C/T	snv	0.28	0.31	14
rs210987	GABRG2	0.925	0.080	5	162108749	intron variant	C/T	snv		0.54	2
rs211014	GABRG2	0.925	0.080	5	162149412	3 prime UTR variant	C/A	snv		0.30	2
rs16850331	SCN2A	0.925	0.080	2	165292743	intron variant	C/T	snv		0.23	2
rs17183814	SCN2A	0.827	0.120	2	165295879	splice acceptor variant	G/A	snv	8.4E-02	6.2E-02	7
rs121917748	SCN2A	0.882	0.120	2	165308751	missense variant	C/T	snv	2.0E-05		4
rs3943809	SCN2A	0.925	0.080	2	165344371	intron variant	A/G	snv		0.20	2
rs3769955	SCN2A	1.000	0.080	2	165378122	intron variant	C/T	snv		0.42	1
rs556893466	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000	0.080	2	165991477	missense variant	C/A;T	snv	2.0E-05; 8.0E-06		1
rs886039529	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.080	2	166036051	frameshift variant	TT/-	delins			2
rs1559193213	SCN1A-AS1 ; SCN1A ; LOC102724058	0.807	0.160	2	166036149	frameshift variant	-/G	delins			11