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
rs1559884460	CACNA2D2	1.000		3	50374761	frameshift variant	GAGAT/-	delins			1
rs1559887808	CACNA2D2	1.000		3	50377538	stop gained	G/A	snv			1
rs797044878	GNAO1	0.882		16	56336763	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
rs1247507359	GOT2	1.000		16	58716024	missense variant	G/C	snv		7.0E-06	1
rs1473654961	GOT2	1.000		16	58718272	inframe deletion	GAA/-	delins			1
rs1554037381	HCN1	1.000		5	45645333	missense variant	T/A	snv			1
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
rs1555869700	KCNQ2	1.000		20	63438645	missense variant	G/A	snv			1
rs1555870506	KCNQ2	1.000		20	63439677	frameshift variant	T/-	delins			1
rs1568864658	KCNQ2	1.000		20	63408428	frameshift variant	C/-	delins			1
rs1568899375	KCNQ2	1.000		20	63424207	splice acceptor variant	C/T	snv			1
rs1568927747	KCNQ2	1.000		20	63439680	frameshift variant	T/-	del			1
rs1568932480	KCNQ2	1.000		20	63442440	frameshift variant	-/AG	delins			1
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
rs1553519902	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	165991548	inframe deletion	AGT/-	delins			1
rs1553521567	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	165996118	splice acceptor variant	G/A	snv			1
rs1559105301	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	165992294	frameshift variant	AG/-	delins			1
rs1559110846	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	165994306	frameshift variant	GTCAT/-	del			1
rs1559128532	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	166002720	splice acceptor variant	TTGCTCCTAAAAGGGCATTCACAACCACCTAATACACAAATGGAA/-	delins			1
rs1559140306	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	166009749	frameshift variant	-/A	delins			1
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