DisGeNET - a database of gene-disease associations

List of associated variants

Early Infantile Epileptic Encephalopathy 6, C4551549

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	Num. diseases
rs121918622	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.790	0.080	2	165992332	missense variant	C/A;T	snv	4.0E-06	9
rs1553525325	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.807	0.120	2	166002716	missense variant	A/T	snv		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
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
rs121918803	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.851	0.040	2	166009745	missense variant	C/G	snv		4
rs398123585	SCN1A-AS1 ; SCN1A	0.851	0.080	2	166043875	stop gained	G/A;T	snv	4.0E-06	4
rs794726775	SCN1A-AS1 ; SCN1A	0.882	0.040	2	166039420	splice region variant	T/A	snv		4
rs121917993	SCN1A-AS1 ; SCN1A ; LOC102724058	0.851	0.040	2	165994212	missense variant	G/A	snv		4
rs121917918	SCN1A ; SCN1A-AS1	0.851	0.040	2	166058651	missense variant	C/A;T	snv		4
rs121917935	SCN1A ; SCN1A-AS1	0.851	0.040	2	166054660	missense variant	C/A;T	snv		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
rs794726710	SCN1A ; SCN1A-AS1 ; LOC102724058	0.882	0.160	2	166013812	stop gained	G/A	snv		4
rs794726752	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.882	0.040	2	165996021	stop gained	G/A	snv		3
rs121917976	LOC102724058 ; SCN1A ; SCN1A-AS1	0.882	0.080	2	165992341	missense variant	C/G;T	snv		3
rs794726759	LOC102724058 ; SCN1A ; SCN1A-AS1	0.882	0.040	2	165992342	stop gained	G/A	snv		3
rs869312670	LOC102724058 ; SCN1A ; SCN1A-AS1	0.925	0.160	2	166013745	frameshift variant	A/-	del		3
rs121917921	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.882	0.040	2	165991927	missense variant	G/A	snv		3
rs121917986	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.882	0.040	2	166002588	missense variant	C/G;T	snv		3
rs139300715	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.882	0.080	2	165996047	stop gained	G/A;C;T	snv	2.0E-05	3
rs727504136	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.882	0.040	2	166012255	stop gained	G/A	snv		3