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	Num. diseases
rs1473654961	GOT2	1.000		16	58718272	inframe deletion	GAA/-	delins	1
rs1554037381	HCN1	1.000		5	45645333	missense variant	T/A	snv	1
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
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
rs1043031572	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000		2	166012205	stop gained	G/A;C	snv	1
rs1060502183	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000		2	166002520	frameshift variant	T/-	delins	1
rs1553549834	SCN1A-AS1 ; SCN1A	1.000		2	166051931	missense variant	A/C	snv	1
rs1553560676	SCN1A-AS1 ; SCN1A	1.000		2	166073353	splice donor variant	CTCACT/GGCA	delins	1
rs1553561016	SCN1A-AS1 ; SCN1A	1.000		2	166073619	start lost	C/T	snv	1
rs1559199628	SCN1A-AS1 ; SCN1A	1.000		2	166037922	missense variant	T/C	snv	1
rs1559216338	SCN1A-AS1 ; SCN1A	1.000		2	166043860	frameshift variant	-/TC	delins	1
rs1559225495	SCN1A-AS1 ; SCN1A	1.000		2	166046878	frameshift variant	G/-	delins	1
rs1559245847	SCN1A-AS1 ; SCN1A	1.000		2	166054683	missense variant	A/G	snv	1
rs121917951	SCN1A-AS1 ; SCN1A ; LOC102724058	0.925	0.040	2	165991957	missense variant	G/A;T	snv	1
rs121917981	SCN1A-AS1 ; SCN1A ; LOC102724058	0.925	0.040	2	165991510	missense variant	A/C;G	snv	1