DisGeNET - a database of gene-disease associations

List of associated variants

Long QT Syndrome 1, C4551647

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
rs104894252	KCNQ1	1.000	0.120	11	2570715	missense variant	G/A;C	snv			1
rs104894255	KCNQ1	1.000	0.120	11	2583459	missense variant	G/A;C;T	snv			1
rs1135401944	KCNQ1	1.000	0.120	11	2588786	frameshift variant	A/-	del			1
rs120074177	KCNQ1	0.925	0.120	11	2570682	missense variant	G/A;C	snv	4.0E-06		2
rs120074178	KCNQ1	0.925	0.120	11	2570719	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06; 1.6E-05		2
rs120074179	KCNQ1	0.925	0.120	11	2572089	missense variant	G/A;C;T	snv			3
rs120074180	KCNQ1	1.000	0.120	11	2572882	missense variant	C/G;T	snv	4.0E-06		1
rs120074181	KCNQ1	0.925	0.120	11	2572981	missense variant	G/A;C	snv			2
rs120074182	KCNQ1	1.000	0.120	11	2583448	missense variant	C/T	snv			1
rs120074183	KCNQ1	1.000	0.120	11	2585213	missense variant	G/A	snv		1.4E-05	1
rs120074184	KCNQ1	0.925	0.120	11	2583453	missense variant	G/A;C;T	snv			2
rs120074185	KCNQ1	0.925	0.120	11	2776032	missense variant	C/A;T	snv	1.1E-05; 1.1E-05		3
rs120074186	KCNQ1	0.851	0.120	11	2572979	stop gained	G/A;C;T	snv	1.6E-05; 4.0E-06; 4.0E-06		4
rs120074187	KCNQ1	0.882	0.120	11	2572963	missense variant	G/A	snv	4.8E-05	2.1E-05	3
rs120074188	KCNQ1	0.925	0.120	11	2768902	missense variant	G/A	snv	4.0E-06		2
rs120074189	KCNQ1	0.851	0.120	11	2778003	missense variant	C/T	snv			4
rs120074190	KCNQ1	0.882	0.120	11	2778009	missense variant	G/A	snv	4.8E-05	5.6E-05	3
rs120074191	KCNQ1	0.925	0.120	11	2445448	missense variant	C/T	snv			2
rs120074193	KCNQ1	0.807	0.120	11	2572870	missense variant	G/A;C	snv	4.0E-06		7
rs120074194	KCNQ1	0.925	0.120	11	2572871	missense variant	G/A;T	snv			2
rs120074196	KCNQ1	0.882	0.120	11	2572057	missense variant	G/A;C	snv	4.0E-06		4
rs1204372364	ANK2	1.000	0.120	4	113355900	missense variant	T/C	snv	8.0E-06	7.0E-06	2
rs12720449	KCNQ1	0.925	0.120	11	2588804	missense variant	C/A;G;T	snv	7.2E-05; 7.5E-03; 2.0E-05		2
rs12720458	KCNQ1	0.716	0.240	11	2585264	missense variant	A/G	snv	4.0E-05	1.4E-05	20
rs12720459	KCNQ1	0.807	0.160	11	2583535	missense variant	C/A;G;T	snv			7