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
rs1564333757	STXBP1	1.000		9	127612424	frameshift variant	-/GCTGTTGTCGG	delins	1
rs1564349850	STXBP1	1.000		9	127661119	frameshift variant	T/-	delins	1
rs1564351103	STXBP1	1.000		9	127665275	stop gained	C/T	snv	1
rs1564352002	STXBP1	1.000		9	127668102	stop gained	G/T	snv	1
rs786205598	STXBP1	0.925	0.040	9	127668159	missense variant	C/T	snv	2
rs1554778417	STXBP1	0.925	0.040	9	127675802	splice acceptor variant	A/G	snv	2
rs121917981	SCN1A-AS1 ; SCN1A ; LOC102724058	0.925	0.040	2	165991510	missense variant	A/C;G	snv	1
rs1553519902	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	165991548	inframe deletion	AGT/-	delins	1
rs121918793	SCN1A ; SCN1A-AS1 ; LOC102724058	0.882	0.040	2	165991549	missense variant	G/A	snv	2
rs1559101585	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000		2	165991779	frameshift variant	-/A	ins	1
rs121917951	SCN1A-AS1 ; SCN1A ; LOC102724058	0.925	0.040	2	165991957	missense variant	G/A;T	snv	1
rs794726763	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.925	0.040	2	165992053	missense variant	C/G;T	snv	2
rs1559105301	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	165992294	frameshift variant	AG/-	delins	1
rs1553520439	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000		2	165992311	missense variant	C/G	snv	1
rs121917919	SCN1A ; LOC102724058 ; SCN1A-AS1	0.925	0.040	2	165994236	missense variant	A/G	snv	1
rs1559110846	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	165994306	frameshift variant	GTCAT/-	del	1
rs1559114202	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000		2	165995974	splice donor variant	TGTATTTTTCCCCCATATCATTTGATACTTCTTACTCCTGGTCGAGGTATAGGCTTTT/-	delins	1
rs1559114303	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000		2	165996008	splice region variant	C/G	snv	1
rs121918764	SCN1A ; SCN1A-AS1 ; LOC102724058	0.925	0.040	2	165996053	stop gained	A/C;G	snv	1
rs1553521567	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	165996118	splice acceptor variant	G/A	snv	1
rs1060502183	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000		2	166002520	frameshift variant	T/-	delins	1
rs1553525313	SCN1A ; LOC102724058 ; SCN1A-AS1	1.000		2	166002704	missense variant	A/G	snv	1
rs1559128532	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	166002720	splice acceptor variant	TTGCTCCTAAAAGGGCATTCACAACCACCTAATACACAAATGGAA/-	delins	1
rs1559140110	SCN1A ; LOC102724058 ; SCN1A-AS1	1.000		2	166009717	splice donor variant	A/G	snv	1
rs1559140306	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	166009749	frameshift variant	-/A	delins	1