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
rs1380382303	KCNH2	0.925	0.120	7	150950989	synonymous variant	G/A	snv		7.0E-06	2
rs199472910	KCNH2	0.827	0.120	7	150952508	missense variant	G/A	snv	1.2E-05		5
rs28928905	KCNH2	0.851	0.120	7	150952514	missense variant	C/G;T	snv			5
rs199472678	KCNQ1	0.925	0.120	11	2445430	missense variant	A/G	snv	8.9E-06		3
rs120074191	KCNQ1	0.925	0.120	11	2445448	missense variant	C/T	snv			2
rs199473451	KCNQ1	0.925	0.120	11	2527971	missense variant	A/G	snv			2
rs199472690	KCNQ1	0.925	0.120	11	2528011	missense variant	T/G	snv			2
rs762814879	KCNQ1	0.925	0.120	11	2528019	splice donor variant	G/A	snv	8.0E-06	7.0E-06	2
rs397508111	KCNQ1	0.882	0.120	11	2528023	splice region variant	G/A;C	snv	1.2E-05		3
rs179489	KCNQ1	0.925	0.120	11	2570652	missense variant	G/A;C	snv	1.2E-05; 4.0E-06		2
rs139042529	KCNQ1	0.925	0.120	11	2570663	stop gained	C/A;G;T	snv	8.0E-06; 9.4E-04		2
rs763462603	KCNQ1	0.925	0.120	11	2570665	frameshift variant	TCTGGTCCGCC/-;TCTGGTCCGCCTCTGGTCCGCC	delins			2
rs199472696	KCNQ1	0.851	0.120	11	2570670	missense variant	C/T	snv	4.0E-06	1.4E-05	4
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
rs397508118	KCNQ1	0.851	0.120	11	2570720	frameshift variant	GCGCT/-	delins		1.4E-05	4
rs199473401	KCNQ1	0.925	0.120	11	2570722	missense variant	T/C	snv			4
rs150172393	KCNQ1	0.925	0.120	11	2570733	missense variant	C/T	snv	2.8E-05	3.5E-05	2
rs199472702	KCNQ1	0.882	0.120	11	2570754	missense variant	G/A;C	snv	8.1E-06		3
rs199473455	KCNQ1	0.925	0.120	11	2571332	missense variant	C/G;T	snv	1.2E-05		2
rs151344631	KCNQ1	0.827	0.200	11	2571333	missense variant	G/A	snv	8.0E-06	3.5E-05	5
rs199472706	KCNQ1	0.925	0.120	11	2571391	missense variant	C/T	snv	4.0E-06	1.0E-04	3
rs199473456	KCNQ1	0.882	0.120	11	2571394	missense variant	C/T	snv	1.2E-05		3
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