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
rs118192215	KCNQ2	0.925	0.040	20	63438651	missense variant	G/A	snv			2
rs118192228	KCNQ2	0.925	0.040	20	63414902	splice donor variant	C/T	snv			2
rs121917927	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166046969	missense variant	C/G;T	snv			2
rs121917969	SCN1A ; SCN1A-AS1	0.925	0.040	2	166037891	missense variant	A/G	snv			2
rs121918765	SCN1A-AS1 ; SCN1A ; LOC102724058	0.925	0.040	2	165992284	missense variant	A/G;T	snv			2
rs121918788	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166037931	missense variant	G/A	snv			2
rs1553543215	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166041295	frameshift variant	AA/-	delins			2
rs1554965669	SLC25A22	0.925	0.040	11	792888	stop gained	G/A	snv			2
rs542420576	SCN1A ; SCN1A-AS1 ; LOC102724058	0.925	0.040	2	166036371	stop gained	G/A;T	snv	4.1E-06		2
rs587777310	STXBP1	0.925	0.040	9	127668132	missense variant	G/A	snv			2
rs587777420	NECAP1	0.925	0.040	12	8089982	stop gained	C/T	snv		7.0E-06	2
rs587784453	STXBP1	0.925	0.040	9	127666236	missense variant	A/G	snv			2
rs727503974	KCNQ2	0.925	0.040	20	63439704	missense variant	G/A	snv			2
rs794726697	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166038129	stop gained	G/A;T	snv			2
rs794726711	SCN1A ; SCN1A-AS1	0.925	0.040	2	166058616	missense variant	G/T	snv			2
rs794726736	SCN1A ; SCN1A-AS1	0.925	0.040	2	166043974	stop gained	G/A;T	snv	4.0E-06		2
rs794726743	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166041385	stop gained	C/A;T	snv			2
rs794726824	SCN1A ; SCN1A-AS1	0.925	0.040	2	166048950	splice acceptor variant	C/T	snv			2
rs796053355	STXBP1	0.925	0.040	9	127663343	missense variant	C/T	snv			2
rs796053366	STXBP1	0.925	0.040	9	127673250	stop gained	C/T	snv			2
rs796053368	STXBP1	0.925	0.040	9	127678510	missense variant	C/T	snv			2
rs886041246	STXBP1	0.925	0.040	9	127675910	missense variant	G/A;T	snv			2
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