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 EXOME	AF GENOME	Num. diseases
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
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
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
rs1380382303	KCNH2	0.925	0.120	7	150950989	synonymous variant	G/A	snv		7.0E-06	2
rs139042529	KCNQ1	0.925	0.120	11	2570663	stop gained	C/A;G;T	snv	8.0E-06; 9.4E-04		2
rs150172393	KCNQ1	0.925	0.120	11	2570733	missense variant	C/T	snv	2.8E-05	3.5E-05	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
rs199472690	KCNQ1	0.925	0.120	11	2528011	missense variant	T/G	snv			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
rs199472715	KCNQ1	0.925	0.120	11	2572078	missense variant	T/A;C	snv			2
rs199472726	KCNQ1	0.925	0.120	11	2572880	missense variant	G/A;T	snv	8.0E-06		2
rs199472729	KCNQ1	0.925	0.120	11	2572889	missense variant	T/C	snv			2
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
rs199472800	KCNQ1	0.925	0.120	11	2776033	missense variant	G/A;T	snv	2.3E-05; 5.7E-06		2
rs199472804	KCNQ1	0.925	0.120	11	2776997	missense variant	C/A;T	snv			2