DisGeNET - a database of gene-disease associations

List of shared variants

Long QT Syndrome, C0023976

Disease: Torsades de Pointes

Source: ALL

Results per page

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
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
rs767910122	KCNH2	0.724	0.280	7	150948446	frameshift variant	-/GTCCG	ins		4.4E-05	17
rs794728448	KCNH2	0.724	0.280	7	150948445	frameshift variant	CT/G	delins			17
rs1805128	KCNE1	0.776	0.160	21	34449382	missense variant	C/T	snv	9.4E-03		10
rs79299226	SCN5A	0.851	0.120	3	38550898	missense variant	A/G	snv			4
rs189014161	KCNH2	0.882	0.120	7	150950336	stop gained	G/A;C;T	snv	1.6E-05; 4.0E-06		3
rs199472758	KCNQ1	0.925	0.120	11	2583526	missense variant	C/T	snv	4.0E-06		2
rs199473339	SCN5A	0.925	0.120	3	38605953	stop gained	C/A;T	snv	6.3E-04	1.3E-04	2