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	AF GENOME	Num. diseases
rs1555869758	KCNQ2	1.000	0.040	20	63438654	missense variant	T/C	snv			3
rs1057518066	KCNT1	1.000	0.040	9	135765732	missense variant	C/T	snv			1
rs1057521537	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.040	2	166002695	missense variant	C/A;G	snv			1
rs1057522982	STXBP1	1.000	0.040	9	127678429	splice acceptor variant	A/G;T	snv			1
rs1060500603	KCNQ2	1.000	0.040	20	63407083	frameshift variant	-/CTGGCGC	delins			1
rs1060501722	STXBP1	1.000	0.040	9	127678505	stop gained	G/A;C	snv			1
rs1060501723	STXBP1	1.000	0.040	9	127660048	frameshift variant	A/-	del			1
rs1060501724	STXBP1	1.000	0.040	9	127661161	missense variant	A/C	snv			1
rs1060502182	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	166013817	frameshift variant	-/A	delins			1
rs1060502185	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166058565	splice region variant	G/C;T	snv			1
rs1060502187	SCN1A ; SCN1A-AS1	1.000	0.040	2	166058641	frameshift variant	G/-	delins			1
rs1060502188	SCN1A ; LOC102724058 ; SCN1A-AS1	1.000	0.040	2	166012166	stop gained	A/C	snv			1
rs1060502190	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	166002489	missense variant	G/C	snv			1
rs1060503108	CACNA2D2	1.000	0.040	3	50387592	frameshift variant	TA/-	delins			1
rs146515561	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166046869	stop gained	G/A;C	snv	2.0E-05	2.1E-05	1
rs1553519872	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	165991521	frameshift variant	A/-	del			1
rs1553520029	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000	0.040	2	165991678	missense variant	T/C	snv			1
rs1553520227	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	165992006	missense variant	C/G	snv			1
rs1553520318	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.040	2	165992101	missense variant	C/T	snv			1
rs1553520320	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	165992108	missense variant	A/G	snv			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