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
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
rs121909673	GABRG2	0.776	0.080	5	162093965	missense variant	G/A	snv			10
rs1555228665	SCN8A	0.882	0.080	12	51788702	missense variant	T/C	snv			4
rs267606837	GABRG2	0.851	0.080	5	162097839	missense variant	C/G	snv			4
rs6432860	SCN1A ; SCN1A-AS1	0.925	0.080	2	166041354	synonymous variant	A/G;T	snv	0.73; 4.0E-06		4
rs121918631	SCN1A-AS1 ; SCN1A	0.882	0.080	2	166056450	stop gained	A/G;T	snv			3
rs121918782	SCN1A-AS1 ; SCN1A	0.882	0.080	2	166041277	missense variant	T/A;C	snv	1.6E-05		3
rs142740233	SLC12A5	0.925	0.080	20	46056217	missense variant	G/A;T	snv	3.3E-03; 4.0E-06		3
rs1398830127	GABBR1	0.925	0.080	6	29610981	missense variant	C/T	snv	4.1E-06		2
rs16850331	SCN2A	0.925	0.080	2	165292743	intron variant	C/T	snv		0.23	2
rs1805057	GABBR1	0.925	0.080	6	29613344	missense variant	C/T	snv	1.1E-03	1.5E-03	2
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
rs3943809	SCN2A	0.925	0.080	2	165344371	intron variant	A/G	snv		0.20	2
rs7587026	SCN1A ; SCN1A-AS1	0.925	0.080	2	166122240	intron variant	C/A	snv		0.26	2
rs763256222	SCN1A-AS1 ; SCN9A	0.925	0.080	2	166288466	missense variant	G/A	snv	8.1E-06		2
rs770771659	SCN9A ; SCN1A-AS1	0.925	0.080	2	166286614	missense variant	C/T	snv	9.4E-05	2.8E-05	2
rs886039529	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.080	2	166036051	frameshift variant	TT/-	delins			2
rs11105468	LOC105369890	1.000	0.080	12	89935056	intron variant	T/A	snv		0.26	1
rs114444506	ANO3-AS1 ; LOC105376598 ; ANO3	1.000	0.080	11	26325284	intron variant	T/C	snv		1.7E-02	1
rs1318653	MIR29B2CHG	1.000	0.080	1	207841577	intron variant	T/C	snv		0.19	1
rs13306038	PTGS2	1.000	0.080	1	186671995	3 prime UTR variant	A/T	snv		4.6E-03	1
rs146572471	SLC30A3	1.000	0.080	2	27256512	missense variant	G/A;C	snv	5.8E-04; 4.0E-06		1
rs1553553485	SCN1A-AS1 ; SCN1A	1.000	0.080	2	166058626	stop gained	G/C	snv			1
rs201931599	PTGS2	1.000	0.080	1	186671994	3 prime UTR variant	T/A	snv		1.7E-02	1