DisGeNET - a database of gene-disease associations

List of associated variants

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, C1839333

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
rs121918799	SCN1A-AS1 ; SCN1A ; LOC102724058	0.752	0.120	2	166015636	missense variant	G/C	snv	1.7E-03	1.6E-03	14
rs121918622	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.790	0.080	2	165992332	missense variant	C/A;T	snv	4.0E-06		9
rs121909674	GABRG2	0.790	0.080	5	162153132	stop gained	C/T	snv			8
rs121917984	SCN1A-AS1 ; SCN1A	0.790	0.080	2	166052869	missense variant	G/A;C	snv			8
rs122460159	CDKL5	0.807	0.200	X	18564496	missense variant	C/T	snv			6
rs267608493	CDKL5	0.827	0.200	X	18584331	missense variant	C/A;T	snv			5
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
rs62641235	CDKL5	0.851	0.200	X	18575423	missense variant	T/A;C	snv			4
rs121918803	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.851	0.040	2	166009745	missense variant	C/G	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
rs121917971	SCN1A ; SCN1A-AS1	0.851	0.080	2	166037885	missense variant	C/G;T	snv			4
rs122460157	CDKL5	0.882	0.200	X	18581942	missense variant	G/A;T	snv			3
rs267608501	CDKL5	0.882	0.160	X	18587986	missense variant	C/T	snv			3
rs61749700	CDKL5	0.882	0.200	X	18584324	missense variant	A/T	snv			3
rs794726752	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.882	0.040	2	165996021	stop gained	G/A	snv			3
rs794726759	LOC102724058 ; SCN1A ; SCN1A-AS1	0.882	0.040	2	165992342	stop gained	G/A	snv			3
rs796052839	PCDH19	0.882	0.200	X	100407579	missense variant	T/C;G	snv			3
rs121917921	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.882	0.040	2	165991927	missense variant	G/A	snv			3
rs398123593	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.882	0.040	2	166002537	stop gained	G/A	snv			3
rs727504136	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.882	0.040	2	166012255	stop gained	G/A	snv			3
rs121918792	SCN1A-AS1 ; SCN1A ; LOC102724058	0.882	0.040	2	165992255	missense variant	C/G	snv			3