DisGeNET - a database of gene-disease associations

List of associated variants

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, C1858673

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
rs121918622	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.790	0.080	2	165992332	missense variant	C/A;T	snv	4.0E-06		9
rs121917984	SCN1A-AS1 ; SCN1A	0.790	0.080	2	166052869	missense variant	G/A;C	snv			8
rs794726827	SCN1A ; SCN1A-AS1	0.827	0.120	2	166054637	splice donor variant	C/A;G;T	snv			6
rs121918624	SCN1A-AS1 ; SCN1A	0.827	0.080	2	166052882	stop gained	G/A	snv			5
rs398123588	SCN1A-AS1 ; SCN1A	0.827	0.080	2	166039436	missense variant	C/T	snv	8.0E-06		5
rs121918775	SCN1A ; SCN1A-AS1	0.827	0.080	2	166037886	missense variant	G/A;T	snv			5
rs121918805	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.925	0.080	2	166002660	missense variant	C/A;T	snv	2.0E-05		4
rs121917953	SCN1A-AS1 ; SCN1A	0.851	0.080	2	166054677	missense variant	T/A	snv			4
rs398123585	SCN1A-AS1 ; SCN1A	0.851	0.080	2	166043875	stop gained	G/A;T	snv	4.0E-06		4
rs121917964	SCN1A ; SCN1A-AS1	0.851	0.080	2	166073371	missense variant	T/C	snv			4
rs121917971	SCN1A ; SCN1A-AS1	0.851	0.080	2	166037885	missense variant	C/G;T	snv			4
rs794726718	SCN1A ; SCN1A-AS1	0.851	0.080	2	166037930	missense variant	C/G;T	snv			4
rs121917976	LOC102724058 ; SCN1A ; SCN1A-AS1	0.882	0.080	2	165992341	missense variant	C/G;T	snv			3
rs121918626	LOC102724058 ; SCN1A ; SCN1A-AS1	0.925	0.080	2	166012179	missense variant	T/G	snv			3
rs139300715	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.882	0.080	2	165996047	stop gained	G/A;C;T	snv	2.0E-05		3
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
rs138877187	SCN1A-AS1 ; SCN1A	0.882	0.080	2	166045081	stop gained	G/A;C;T	snv	7.6E-05		3
rs794726730	SCN1A-AS1 ; SCN1A	0.882	0.080	2	166042334	stop gained	G/A	snv			3
rs886039456	SCN1A-AS1 ; SCN1A	0.882	0.080	2	166052885	missense variant	G/C	snv		1.4E-05	3
rs121918811	SCN1A-AS1 ; SCN1A ; LOC102724058	0.882	0.080	2	165992306	missense variant	G/A	snv		7.0E-06	3
rs121918744	SCN1A ; LOC102724058 ; SCN1A-AS1	0.882	0.080	2	165992221	missense variant	G/A;T	snv			3
rs886039430	SCN1A ; SCN1A-AS1	0.882	0.080	2	166044010	stop gained	G/A	snv			3
rs794729207	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.925	0.080	2	166036518	frameshift variant	GA/-	delins			2
rs121918783	LOC102724058 ; SCN1A ; SCN1A-AS1	0.925	0.080	2	165991720	missense variant	A/G	snv			2