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	Num. diseases
rs1553545522	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166045117	frameshift variant	TGATG/-	del	1
rs1553560677	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166073357	splice donor variant	C/G	snv	1
rs1553560740	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166073405	inframe insertion	-/ATC	delins	1
rs1060502190	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	166002489	missense variant	G/C	snv	1
rs1553519872	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	165991521	frameshift variant	A/-	del	1
rs1553520227	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	165992006	missense variant	C/G	snv	1
rs1553520320	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	165992108	missense variant	A/G	snv	1
rs1060502188	SCN1A ; LOC102724058 ; SCN1A-AS1	1.000	0.040	2	166012166	stop gained	A/C	snv	1
rs1553522331	SCN1A ; LOC102724058 ; SCN1A-AS1	1.000	0.040	2	165998061	missense variant	T/C	snv	1
rs1060502187	SCN1A ; SCN1A-AS1	1.000	0.040	2	166058641	frameshift variant	G/-	delins	1
rs1553542199	SCN1A ; SCN1A-AS1	1.000	0.040	2	166039443	frameshift variant	-/GATA	delins	1
rs1553544559	SCN1A ; SCN1A-AS1	1.000	0.040	2	166043754	stop gained	A/T	snv	1
rs1553544821	SCN1A ; SCN1A-AS1	1.000	0.040	2	166043917	stop gained	C/A	snv	1
rs1553545660	SCN1A ; SCN1A-AS1	1.000	0.040	2	166045190	frameshift variant	TTCTT/-	delins	1
rs1553548096	SCN1A ; SCN1A-AS1	1.000	0.040	2	166048906	stop gained	A/C;T	snv	1
rs1553549483	SCN1A ; SCN1A-AS1	1.000	0.040	2	166051742	frameshift variant	GTCA/-	delins	1
rs1553551385	SCN1A ; SCN1A-AS1	1.000	0.040	2	166054674	frameshift variant	G/-	delins	1
rs1553552319	SCN1A ; SCN1A-AS1	1.000	0.040	2	166056429	frameshift variant	-/C	delins	1
rs1553561023	SCN1A ; SCN1A-AS1	1.000	0.040	2	166073620	start lost	A/G	snv	1
rs878854262	SCN1A ; SCN1A-AS1	1.000	0.040	2	166037861	missense variant	T/A	snv	1
rs1060502182	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	166013817	frameshift variant	-/A	delins	1
rs1553522321	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	165998052	frameshift variant	G/-	delins	1
rs1553522517	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	165998176	splice acceptor variant	C/T	snv	1
rs1553525210	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	166002647	missense variant	G/A	snv	1
rs1553534296	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	166015725	frameshift variant	TT/-	delins	1