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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs114444506	ANO3-AS1 ; LOC105376598 ; ANO3	1.000	0.080	11	26325284	intron variant	T/C	snv		1.7E-02	1
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins			43
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/T	snv			18
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
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
rs2724384	CD46	1.000	0.080	1	207756858	intron variant	G/A	snv		0.80	1
rs201439531	CHAT	0.827	0.200	10	49664880	missense variant	C/G	snv		7.0E-06	11
rs769234940	CHAT	0.827	0.200	10	49627735	missense variant	C/T	snv	1.6E-05	2.8E-05	11
rs61738009	CPA6 ; LOC102724708	0.827	0.080	8	67483807	stop gained	C/A;T	snv	4.0E-06; 2.0E-03	2.5E-03	11
rs1398830127	GABBR1	0.925	0.080	6	29610981	missense variant	C/T	snv	4.1E-06		2
rs1805057	GABBR1	0.925	0.080	6	29613344	missense variant	C/T	snv	1.1E-03	1.5E-03	2
rs211037	GABRG2	0.742	0.240	5	162101274	synonymous variant	C/T	snv	0.28	0.31	14
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
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
rs1564365418	GRIN1	0.882	0.120	9	137163846	missense variant	G/T	snv			5
rs273259	IFI44L	1.000	0.080	1	78628133	missense variant	A/G	snv	0.38	0.36	1
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92