DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Long QT Syndrome 1 ×

Variants associated to the Gene: KCNQ1 ×

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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
rs12720458	KCNQ1	0.716	0.240	11	2585264	missense variant	A/G	snv	4.0E-05	1.4E-05	20
rs199473457	KCNQ1	0.827	0.200	11	2572020	missense variant	C/A;T	snv			11
rs120074193	KCNQ1	0.807	0.120	11	2572870	missense variant	G/A;C	snv	4.0E-06		6
rs17221854	KCNQ1	0.807	0.120	11	2777990	missense variant	C/T	snv	1.6E-05		6
rs199472709	KCNQ1	0.790	0.120	11	2572021	missense variant	G/A;T	snv			6
rs199472795	KCNQ1	0.807	0.120	11	2775984	missense variant	C/T	snv		7.0E-06	6
rs397508097	KCNQ1	0.807	0.120	11	2768917	stop gained	C/T	snv	2.8E-05	1.4E-05	6
rs143709408	KCNQ1	0.882	0.200	11	2527999	missense variant	C/T	snv	1.6E-04	3.6E-04	5
rs17215500	KCNQ1	0.807	0.240	11	2768881	stop gained	C/G;T	snv	1.0E-04		5
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
rs397508118	KCNQ1	0.851	0.120	11	2570720	frameshift variant	GCGCT/-	delins		1.4E-05	4
rs120074185	KCNQ1	0.925	0.120	11	2776032	missense variant	C/A;T	snv	1.1E-05; 1.1E-05		3
rs120074189	KCNQ1	0.851	0.120	11	2778003	missense variant	C/T	snv			3
rs120074190	KCNQ1	0.882	0.120	11	2778009	missense variant	G/A	snv	4.8E-05	5.6E-05	3
rs120074196	KCNQ1	0.882	0.120	11	2572057	missense variant	G/A;C	snv	4.0E-06		3
rs12720459	KCNQ1	0.807	0.160	11	2583535	missense variant	C/A;G;T	snv			3
rs151344631	KCNQ1	0.827	0.200	11	2571333	missense variant	G/A	snv	8.0E-06	3.5E-05	3
rs1554920808	KCNQ1	1.000	0.120	11	2776991	missense variant	A/G	snv			3
rs1800171	KCNQ1	0.882	0.120	11	2583545	splice region variant	G/A;C;T	snv	4.0E-06		3
rs199472696	KCNQ1	0.851	0.120	11	2570670	missense variant	C/T	snv	4.0E-06	1.4E-05	3
rs199472706	KCNQ1	0.925	0.120	11	2571391	missense variant	C/T	snv	4.0E-06	1.0E-04	3
rs199472712	KCNQ1	0.882	0.120	11	2572053	missense variant	G/A;T	snv	4.0E-06		3
rs199472720	KCNQ1	0.925	0.120	11	2572105	missense variant	G/A;T	snv	1.6E-05		3
rs199472755	KCNQ1	0.851	0.120	11	2583478	missense variant	C/A;G;T	snv	4.0E-06		3
rs199472776	KCNQ1	0.882	0.120	11	2587630	missense variant	C/G;T	snv	4.0E-06; 2.0E-04		3