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
rs1553560740	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166073405	inframe insertion	-/ATC	delins	1
rs1555546796	ARHGEF15	1.000	0.040	17	8313029	inframe deletion	GTCCCCCGTCGGGCC/-	del	1
rs1553561023	SCN1A ; SCN1A-AS1	1.000	0.040	2	166073620	start lost	A/G	snv	1
rs794726775	SCN1A-AS1 ; SCN1A	0.882	0.040	2	166039420	splice region variant	T/A	snv	4
rs1060502185	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166058565	splice region variant	G/C;T	snv	1
rs794726824	SCN1A ; SCN1A-AS1	0.925	0.040	2	166048950	splice acceptor variant	C/T	snv	2
rs1057522982	STXBP1	1.000	0.040	9	127678429	splice acceptor variant	A/G;T	snv	1
rs1553522517	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	165998176	splice acceptor variant	C/T	snv	1
rs1554776948	STXBP1	1.000	0.040	9	127661101	splice acceptor variant	G/T	snv	1
rs886041339	KCNQ2	0.925	0.040	20	63424195	frameshift variant	G/-;GG	delins	3
rs1553543215	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166041295	frameshift variant	AA/-	delins	2
rs1060500603	KCNQ2	1.000	0.040	20	63407083	frameshift variant	-/CTGGCGC	delins	1
rs1060501723	STXBP1	1.000	0.040	9	127660048	frameshift variant	A/-	del	1
rs1060502182	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	166013817	frameshift variant	-/A	delins	1
rs1060502187	SCN1A ; SCN1A-AS1	1.000	0.040	2	166058641	frameshift variant	G/-	delins	1
rs1060503108	CACNA2D2	1.000	0.040	3	50387592	frameshift variant	TA/-	delins	1
rs1553519872	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	165991521	frameshift variant	A/-	del	1
rs1553522321	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	165998052	frameshift variant	G/-	delins	1
rs1553525036	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.040	2	166002570	frameshift variant	ATCAGTATGATTA/-	delins	1
rs1553529426	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.040	2	166009724	frameshift variant	T/-	del	1
rs1553534296	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	166015725	frameshift variant	TT/-	delins	1
rs1553540389	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.040	2	166036395	frameshift variant	T/-	delins	1
rs1553542199	SCN1A ; SCN1A-AS1	1.000	0.040	2	166039443	frameshift variant	-/GATA	delins	1
rs1553545522	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166045117	frameshift variant	TGATG/-	del	1
rs1553545660	SCN1A ; SCN1A-AS1	1.000	0.040	2	166045190	frameshift variant	TTCTT/-	delins	1