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
rs397508111	KCNQ1	0.882	0.120	11	2528023	splice region variant	G/A;C	snv	1.2E-05		3
rs397508112	KCNQ1	0.882	0.120	11	2570638	frameshift variant	T/-	del			3
rs120074187	KCNQ1	0.882	0.120	11	2572963	missense variant	G/A	snv	4.8E-05	2.1E-05	2
rs199472719	KCNQ1	0.882	0.120	11	2572104	missense variant	C/T	snv	4.1E-06		2
rs199472730	KCNQ1	0.882	0.120	11	2572895	missense variant	C/G;T	snv			2
rs199472702	KCNQ1	0.882	0.120	11	2570754	missense variant	G/A;C	snv	8.1E-06		1
rs199473466	KCNQ1	0.882	0.120	11	2572975	missense variant	T/C	snv			1
rs120074185	KCNQ1	0.925	0.120	11	2776032	missense variant	C/A;T	snv	1.1E-05; 1.1E-05		3
rs199472706	KCNQ1	0.925	0.120	11	2571391	missense variant	C/T	snv	4.0E-06	1.0E-04	3
rs199472720	KCNQ1	0.925	0.120	11	2572105	missense variant	G/A;T	snv	1.6E-05		3
rs794728537	KCNQ1	0.925	0.120	11	2778023	stop gained	C/T	snv			3
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			2
rs120074184	KCNQ1	0.925	0.120	11	2583453	missense variant	G/A;C;T	snv			2
rs120074188	KCNQ1	0.925	0.120	11	2768902	missense variant	G/A	snv	4.0E-06		2
rs120074194	KCNQ1	0.925	0.120	11	2572871	missense variant	G/A;T	snv			2
rs139042529	KCNQ1	0.925	0.120	11	2570663	stop gained	C/A;G;T	snv	8.0E-06; 9.4E-04		2
rs179489	KCNQ1	0.925	0.120	11	2570652	missense variant	G/A;C	snv	1.2E-05; 4.0E-06		2
rs193922365	KCNQ1	0.925	0.120	11	2572970	missense variant	C/A;T	snv	4.0E-06		2
rs199472710	KCNQ1	0.925	0.120	11	2572033	missense variant	T/A	snv			2
rs199472713	KCNQ1	0.925	0.120	11	2572056	missense variant	C/A;T	snv	4.0E-06		2
rs199472726	KCNQ1	0.925	0.120	11	2572880	missense variant	G/A;T	snv	8.0E-06		2
rs199472728	KCNQ1	0.925	0.120	11	2572885	missense variant	A/G	snv	1.8E-04	1.3E-04	2
rs199472746	KCNQ1	0.925	0.120	11	2583445	missense variant	C/T	snv	4.0E-06		2