DisGeNET - a database of gene-disease associations

List of associated variants

Long QT Syndrome, C0023976

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
rs587782933	CACNA1C	0.827	0.200	12	2504526	missense variant	G/A	snv			5
rs1167115018	HFE ; LOC108783645	0.827	0.160	6	26092760	missense variant	A/G	snv	8.0E-06	7.0E-06	5
rs199472910	KCNH2	0.827	0.120	7	150952508	missense variant	G/A	snv	1.2E-05		5
rs199472921	KCNH2	0.882	0.120	7	150951712	missense variant	C/G;T	snv			5
rs199472936	KCNH2	0.882	0.120	7	150951592	missense variant	C/A;T	snv			5
rs28928905	KCNH2	0.851	0.120	7	150952514	missense variant	C/G;T	snv			5
rs151344631	KCNQ1	0.827	0.200	11	2571333	missense variant	G/A	snv	8.0E-06	3.5E-05	5
rs199472687	KCNQ1	0.827	0.120	11	2527962	missense variant	G/A	snv			5
rs199472730	KCNQ1	0.882	0.120	11	2572895	missense variant	C/G;T	snv			5
rs397516042	MYBPC3	0.827	0.120	11	47332075	stop gained	G/A	snv	8.1E-06	7.0E-06	5
rs12720452	SCN5A	0.882	0.120	3	38603758	missense variant	C/T	snv	2.9E-04	2.9E-04	5
rs199473282	SCN5A	0.827	0.120	3	38551513	missense variant	G/A;T	snv	4.0E-06		5
rs121434500	SNTA1	0.851	0.120	20	33410203	missense variant	G/A	snv	2.0E-05	1.4E-05	5
rs74315446	KCNE1	0.851	0.120	21	34449414	missense variant	G/A;C	snv	1.6E-05		4
rs121912507	KCNH2	0.882	0.120	7	150951511	missense variant	C/G;T	snv			4
rs199473039	KCNH2	0.851	0.120	7	150951512	missense variant	G/A;C;T	snv	9.5E-05		4
rs199473428	KCNH2	0.851	0.120	7	150951643	missense variant	C/A;G;T	snv	8.0E-06		4
rs773724817	KCNH2	0.925	0.160	7	150948861	stop gained	G/A	snv	4.0E-06		4
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
rs120074189	KCNQ1	0.851	0.120	11	2778003	missense variant	C/T	snv			4
rs199472696	KCNQ1	0.851	0.120	11	2570670	missense variant	C/T	snv	4.0E-06	1.4E-05	4
rs199472755	KCNQ1	0.851	0.120	11	2583478	missense variant	C/A;G;T	snv	4.0E-06		4
rs199472815	KCNQ1	0.851	0.120	11	2778024	missense variant	G/A;C	snv	2.0E-05		4
rs199473401	KCNQ1	0.925	0.120	11	2570722	missense variant	T/C	snv			4
rs397508118	KCNQ1	0.851	0.120	11	2570720	frameshift variant	GCGCT/-	delins		1.4E-05	4