DisGeNET - a database of gene-disease associations

List of associated variants

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, C4014430

Source: INFERRED ×

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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
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
rs796053216	SCN8A	0.851	0.160	12	51790401	stop gained	G/A;T	snv			4
rs797044878	GNAO1	0.882		16	56336763	missense variant	G/A;T	snv			3
rs121918775	SCN1A ; SCN1A-AS1	0.827	0.080	2	166037886	missense variant	G/A;T	snv			3
rs886041715	GNAO1 ; DKFZP434H168 ; LOC283856	0.827	0.040	16	56192353	missense variant	G/A;C;T	snv			2
rs118192185	KCNQ2	0.925		20	63472463	start lost	T/C	snv			2
rs775918190	KCNQ2	0.925		20	63439610	missense variant	G/A;C;T	snv	8.0E-06		2
rs794726763	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.925	0.040	2	165992053	missense variant	C/G;T	snv			2
rs794726816	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.925	0.040	2	166009843	splice acceptor variant	T/C	snv			2
rs794726744	LOC102724058 ; SCN1A ; SCN1A-AS1	0.925	0.040	2	166013743	splice donor variant	C/A;T	snv			2
rs587777420	NECAP1	0.925	0.040	12	8089982	stop gained	C/T	snv		7.0E-06	2
rs121917937	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166052866	missense variant	A/C	snv			2
rs794726695	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166047679	frameshift variant	A/-;AA	delins			2
rs794726799	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166047668	stop gained	G/A	snv			2
rs1559149128	SCN1A-AS1 ; SCN1A ; LOC102724058	0.925	0.040	2	166013838	stop gained	C/T	snv			2
rs794726762	SCN1A ; SCN1A-AS1	0.925	0.040	2	166073353	splice region variant	C/G;T	snv			2
rs794726778	SCN1A ; SCN1A-AS1	0.925	0.040	2	166043878	stop gained	G/A;C	snv			2
rs121918793	SCN1A ; SCN1A-AS1 ; LOC102724058	0.882	0.040	2	165991549	missense variant	G/A	snv			2
rs796053229	SCN8A	0.882	0.160	12	51807101	missense variant	G/A;T	snv	4.0E-06		2
rs1554778417	STXBP1	0.925	0.040	9	127675802	splice acceptor variant	A/G	snv			2
rs786205598	STXBP1	0.925	0.040	9	127668159	missense variant	C/T	snv			2
rs1559884460	CACNA2D2	1.000		3	50374761	frameshift variant	GAGAT/-	delins			1
rs1559887808	CACNA2D2	1.000		3	50377538	stop gained	G/A	snv			1
rs1247507359	GOT2	1.000		16	58716024	missense variant	G/C	snv		7.0E-06	1