DisGeNET - a database of gene-disease associations

List of associated variants

X-linked infantile spasms, C4552072

Source: ALL

Results per page

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
rs1553524865	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.040	2	166002471	splice donor variant	C/A	snv			1
rs1553544821	SCN1A ; SCN1A-AS1	1.000	0.040	2	166043917	stop gained	C/A	snv			1
rs878854263	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.040	2	166002474	missense variant	C/A	snv			1
rs1057521537	LOC102724058 ; SCN1A-AS1 ; SCN1A	1.000	0.040	2	166002695	missense variant	C/A;G	snv			1
rs121917918	SCN1A ; SCN1A-AS1	0.851	0.040	2	166058651	missense variant	C/A;T	snv			4
rs121917935	SCN1A ; SCN1A-AS1	0.851	0.040	2	166054660	missense variant	C/A;T	snv			4
rs794726743	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166041385	stop gained	C/A;T	snv			2
rs761333438	LOC102724058 ; SCN1A ; SCN1A-AS1	1.000	0.040	2	165994191	stop gained	C/A;T	snv	1.2E-05		1
rs1553520227	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	165992006	missense variant	C/G	snv			1
rs1553560677	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166073357	splice donor variant	C/G	snv			1
rs886041262	KCNQ2	0.851	0.080	20	63444720	missense variant	C/G;T	snv			6
rs794726718	SCN1A ; SCN1A-AS1	0.851	0.080	2	166037930	missense variant	C/G;T	snv			4
rs796053228	SCN8A	0.882	0.160	12	51807100	missense variant	C/G;T	snv			4
rs794727740	KCNQ2	0.925	0.040	20	63442429	missense variant	C/G;T	snv			3
rs121917927	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166046969	missense variant	C/G;T	snv			2
rs1057516085	KCNQ2	0.827	0.080	20	63444747	missense variant	C/T	snv			8
rs122460159	CDKL5	0.807	0.200	X	18564496	missense variant	C/T	snv			6
rs398123588	SCN1A-AS1 ; SCN1A	0.827	0.080	2	166039436	missense variant	C/T	snv	8.0E-06		5
rs397514581	KCNQ2	0.882	0.040	20	63444711	missense variant	C/T	snv			3
rs797045599	GNAO1	0.882	0.040	16	56336817	missense variant	C/T	snv			3
rs1057516098	KCNQ2	0.925	0.040	20	63439657	missense variant	C/T	snv			2
rs118192228	KCNQ2	0.925	0.040	20	63414902	splice donor variant	C/T	snv			2
rs587777420	NECAP1	0.925	0.040	12	8089982	stop gained	C/T	snv		7.0E-06	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