DisGeNET - a database of gene-disease associations

List of shared variants

Long QT Syndrome, C0023976

Disease: Long QT Syndrome 1

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 GENOME	Num. diseases
rs120074179	KCNQ1	0.925	0.120	11	2572089	missense variant	G/A;C;T	snv		3
rs120074181	KCNQ1	0.925	0.120	11	2572981	missense variant	G/A;C	snv		2
rs120074184	KCNQ1	0.925	0.120	11	2583453	missense variant	G/A;C;T	snv		2
rs120074189	KCNQ1	0.851	0.120	11	2778003	missense variant	C/T	snv		4
rs120074191	KCNQ1	0.925	0.120	11	2445448	missense variant	C/T	snv		2
rs120074194	KCNQ1	0.925	0.120	11	2572871	missense variant	G/A;T	snv		2
rs12720459	KCNQ1	0.807	0.160	11	2583535	missense variant	C/A;G;T	snv		7
rs1380382303	KCNH2	0.925	0.120	7	150950989	synonymous variant	G/A	snv	7.0E-06	2
rs199472690	KCNQ1	0.925	0.120	11	2528011	missense variant	T/G	snv		2
rs199472709	KCNQ1	0.790	0.120	11	2572021	missense variant	G/A;T	snv		7
rs199472710	KCNQ1	0.925	0.120	11	2572033	missense variant	T/A	snv		2
rs199472715	KCNQ1	0.925	0.120	11	2572078	missense variant	T/A;C	snv		2
rs199472729	KCNQ1	0.925	0.120	11	2572889	missense variant	T/C	snv		2
rs199472730	KCNQ1	0.882	0.120	11	2572895	missense variant	C/G;T	snv		5
rs199472756	KCNQ1	0.925	0.120	11	2583486	missense variant	G/A	snv		3
rs199472760	KCNQ1	0.925	0.120	11	2583537	missense variant	C/T	snv		2
rs199472764	KCNQ1	0.925	0.120	11	2585224	missense variant	T/C	snv		2
rs199472765	KCNQ1	0.925	0.120	11	2585225	stop gained	C/A;G	snv		2
rs199472768	KCNQ1	0.925	0.120	11	2587576	missense variant	T/C;G	snv		2
rs199472771	KCNQ1	0.925	0.120	11	2587581	missense variant	G/A;T	snv		2
rs199472790	KCNQ1	0.925	0.120	11	2768900	missense variant	T/G	snv		2
rs199472795	KCNQ1	0.807	0.120	11	2775984	missense variant	C/T	snv	7.0E-06	6
rs199472804	KCNQ1	0.925	0.120	11	2776997	missense variant	C/A;T	snv		2
rs199472805	KCNQ1	0.925	0.120	11	2777000	missense variant	T/C;G	snv		2
rs199472807	KCNQ1	0.925	0.120	11	2777002	missense variant	G/A;C	snv		2