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
rs1555546796	ARHGEF15	1.000	0.040	17	8313029	inframe deletion	GTCCCCCGTCGGGCC/-	del			1
rs1060503108	CACNA2D2	1.000	0.040	3	50387592	frameshift variant	TA/-	delins			1
rs1555951141	CDKL5	1.000	0.040	X	18595354	frameshift variant	G/TC	delins			1
rs1060500603	KCNQ2	1.000	0.040	20	63407083	frameshift variant	-/CTGGCGC	delins			1
rs1555850590	KCNQ2	1.000	0.040	20	63406985	frameshift variant	G/-	delins			1
rs1555873656	KCNQ2	1.000	0.040	20	63444662	frameshift variant	G/-	del			1
rs1555873823	KCNQ2	1.000	0.040	20	63444834	missense variant	T/C	snv			1
rs796052657	KCNQ2	1.000	0.040	20	63428424	frameshift variant	G/-	delins			1
rs878855236	KCNQ2	1.000	0.040	20	63415039	frameshift variant	CA/-	delins			1
rs1555873981	KCNQ2-AS1 ; KCNQ2	1.000	0.040	20	63445313	frameshift variant	C/-	delins			1
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
rs1553524865	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.040	2	166002471	splice donor variant	C/A	snv			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
rs1553520318	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.040	2	165992101	missense variant	C/T	snv			1
rs1553540389	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.040	2	166036395	frameshift variant	T/-	delins			1
rs761333438	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.040	2	165994191	stop gained	C/A;T	snv	1.2E-05		1
rs878854263	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.040	2	166002474	missense variant	C/A	snv			1
rs747376305	LOC105372721 ; KCNQ2	1.000	0.040	20	63433841	stop gained	G/A;C	snv	4.0E-06	1.4E-05	1
rs762434475	PRICKLE1	1.000	0.040	12	42465214	missense variant	C/T	snv	8.1E-06	1.4E-05	1
rs1553520029	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000	0.040	2	165991678	missense variant	T/C	snv			1
rs1553523142	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000	0.040	2	165999728	stop gained	T/A	snv			1
rs1060502185	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166058565	splice region variant	G/C;T	snv			1
rs146515561	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166046869	stop gained	G/A;C	snv	2.0E-05	2.1E-05	1