DisGeNET - a database of gene-disease associations

List of associated variants

Congenital long QT syndrome, C1141890

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
rs794728846	SCN5A	0.925	0.120	3	38620972	splice acceptor variant	C/T	snv			2
rs794728448	KCNH2	0.724	0.280	7	150948445	frameshift variant	CT/G	delins			17
rs397508120	KCNQ1	0.882	0.120	11	2570734	frameshift variant	G/-	delins			3
rs794728565	KCNQ1	0.882	0.120	11	2527943	frameshift variant	G/-	delins			3
rs121434500	SNTA1	0.851	0.120	20	33410203	missense variant	G/A	snv	2.0E-05	1.4E-05	5
rs151344631	KCNQ1	0.827	0.200	11	2571333	missense variant	G/A	snv	8.0E-06	3.5E-05	5
rs199472910	KCNH2	0.827	0.120	7	150952508	missense variant	G/A	snv	1.2E-05		5
rs199472944	KCNH2	0.882	0.120	7	150951552	missense variant	G/A	snv			3
rs199472990	KCNH2	0.882	0.120	7	150950312	missense variant	G/A	snv		7.0E-06	3
rs199473538	KCNH2	0.882	0.120	7	150948981	missense variant	G/A	snv	4.0E-06	7.0E-06	3
rs121434386	SCN4B	0.925	0.120	11	118141265	missense variant	G/A	snv		7.0E-06	2
rs199473394	KCNQ1	0.925	0.120	11	2570685	missense variant	G/A	snv		7.0E-06	2
rs554903493	SLCO6A1	1.000	0.120	5	102419940	missense variant	G/A	snv	8.2E-06		2
rs769505732	KCNH2	0.925	0.120	7	150952696	missense variant	G/A	snv	4.0E-06		2
rs1480085793	SCN5A	1.000	0.120	3	38620919	stop gained	G/A	snv	4.0E-06		1
rs199473225	SCN5A	0.851	0.120	3	38560397	missense variant	G/A;C	snv			6
rs199472815	KCNQ1	0.851	0.120	11	2778024	missense variant	G/A;C	snv	2.0E-05		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
rs794728568	KCNQ1	0.925	0.120	11	2570707	missense variant	G/A;T	snv			2
rs794728530	KCNQ1	1.000	0.120	11	2768851	stop gained	G/T	snv			1
rs397508118	KCNQ1	0.851	0.120	11	2570720	frameshift variant	GCGCT/-	delins		1.4E-05	4
rs398124647	CALM2	0.807	0.120	2	47161851	missense variant	T/A;C	snv			6
rs199473359	KCNE1	1.000	0.120	21	34449393	missense variant	T/A;C	snv	8.0E-06		1
rs1805123	KCNH2	0.724	0.280	7	150948446	missense variant	T/A;C;G	snv	1.3E-05; 0.18; 8.4E-06		18
rs1805127	KCNE1	0.732	0.240	21	34449523	missense variant	T/C	snv	0.64	2.0E-04	17