DisGeNET - a database of gene-disease associations

List of associated variants

X-linked infantile spasms, C4552072

Source: ALL

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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	Num. diseases
rs1553520320	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	165992108	missense variant	A/G	snv		1
rs121918765	SCN1A-AS1 ; SCN1A ; LOC102724058	0.925	0.040	2	165992284	missense variant	A/G;T	snv		2
rs761333438	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.040	2	165994191	stop gained	C/A;T	snv	1.2E-05	1
rs1553522321	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	165998052	frameshift variant	G/-	delins		1
rs1553522331	SCN1A ; LOC102724058 ; SCN1A-AS1	1.000	0.040	2	165998061	missense variant	T/C	snv		1
rs1553522517	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	165998176	splice acceptor variant	C/T	snv		1
rs1553523142	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000	0.040	2	165999728	stop gained	T/A	snv		1
rs1553524865	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.040	2	166002471	splice donor variant	C/A	snv		1
rs878854263	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.040	2	166002474	missense variant	C/A	snv		1
rs1060502190	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	166002489	missense variant	G/C	snv		1
rs398123593	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.882	0.040	2	166002537	stop gained	G/A	snv		3
rs1553525036	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.040	2	166002570	frameshift variant	ATCAGTATGATTA/-	delins		1
rs1553525210	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	166002647	missense variant	G/A	snv		1
rs1057521537	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.040	2	166002695	missense variant	C/A;G	snv		1
rs1553529426	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.040	2	166009724	frameshift variant	T/-	del		1
rs1060502188	SCN1A ; LOC102724058 ; SCN1A-AS1	1.000	0.040	2	166012166	stop gained	A/C	snv		1
rs1060502182	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	166013817	frameshift variant	-/A	delins		1
rs1553534296	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	166015725	frameshift variant	TT/-	delins		1
rs542420576	SCN1A ; SCN1A-AS1 ; LOC102724058	0.925	0.040	2	166036371	stop gained	G/A;T	snv	4.1E-06	2
rs1553540389	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.040	2	166036395	frameshift variant	T/-	delins		1
rs878854262	SCN1A ; SCN1A-AS1	1.000	0.040	2	166037861	missense variant	T/A	snv		1
rs121917969	SCN1A ; SCN1A-AS1	0.925	0.040	2	166037891	missense variant	A/G	snv		2
rs794726718	SCN1A ; SCN1A-AS1	0.851	0.080	2	166037930	missense variant	C/G;T	snv		4
rs121918788	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166037931	missense variant	G/A	snv		2
rs794726697	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166038129	stop gained	G/A;T	snv		2