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
rs121917964	SCN1A ; SCN1A-AS1	0.851	0.080	2	166073371	missense variant	T/C	snv			4
rs398123585	SCN1A-AS1 ; SCN1A	0.851	0.080	2	166043875	stop gained	G/A;T	snv	4.0E-06		4
rs121918775	SCN1A ; SCN1A-AS1	0.827	0.080	2	166037886	missense variant	G/A;T	snv			3
rs121917937	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166052866	missense variant	A/C	snv			2
rs121918793	SCN1A ; SCN1A-AS1 ; LOC102724058	0.882	0.040	2	165991549	missense variant	G/A	snv			2
rs1559149128	SCN1A-AS1 ; SCN1A ; LOC102724058	0.925	0.040	2	166013838	stop gained	C/T	snv			2
rs794726695	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166047679	frameshift variant	A/-;AA	delins			2
rs794726744	LOC102724058 ; SCN1A ; SCN1A-AS1	0.925	0.040	2	166013743	splice donor variant	C/A;T	snv			2
rs794726762	SCN1A ; SCN1A-AS1	0.925	0.040	2	166073353	splice region variant	C/G;T	snv			2
rs794726763	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.925	0.040	2	165992053	missense variant	C/G;T	snv			2
rs794726778	SCN1A ; SCN1A-AS1	0.925	0.040	2	166043878	stop gained	G/A;C	snv			2
rs794726799	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166047668	stop gained	G/A	snv			2
rs794726816	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.925	0.040	2	166009843	splice acceptor variant	T/C	snv			2
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
rs121917919	SCN1A ; LOC102724058 ; SCN1A-AS1	0.925	0.040	2	165994236	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
rs121918764	SCN1A ; SCN1A-AS1 ; LOC102724058	0.925	0.040	2	165996053	stop gained	A/C;G	snv			1
rs148442069	SCN1A ; SCN1A-AS1	0.925	0.040	2	166058574	missense variant	G/A;C	snv	6.8E-05	1.1E-04	1
rs1553519902	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	165991548	inframe deletion	AGT/-	delins			1
rs1553520439	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000		2	165992311	missense variant	C/G	snv			1
rs1553521567	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000		2	165996118	splice acceptor variant	G/A	snv			1
rs1553525313	SCN1A ; LOC102724058 ; SCN1A-AS1	1.000		2	166002704	missense variant	A/G	snv			1
rs1553540503	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000		2	166036530	missense variant	C/T	snv			1