DisGeNET - a database of gene-disease associations

List of shared variants

Long QT Syndrome, C0023976

Disease: Syncope

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
rs1805123	KCNH2	0.724	0.280	7	150948446	missense variant	T/A;C;G	snv	1.3E-05; 0.18; 8.4E-06		18
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
rs120074193	KCNQ1	0.807	0.120	11	2572870	missense variant	G/A;C	snv	4.0E-06		7
rs121912504	KCNH2	0.851	0.200	7	150951711	missense variant	G/A	snv			6
rs121434500	SNTA1	0.851	0.120	20	33410203	missense variant	G/A	snv	2.0E-05	1.4E-05	5
rs199472730	KCNQ1	0.882	0.120	11	2572895	missense variant	C/G;T	snv			5
rs199473401	KCNQ1	0.925	0.120	11	2570722	missense variant	T/C	snv			4
rs120074179	KCNQ1	0.925	0.120	11	2572089	missense variant	G/A;C;T	snv			3
rs1254179611	KCNH2	1.000	0.120	7	150958295	missense variant	G/A	snv			3
rs199472756	KCNQ1	0.925	0.120	11	2583486	missense variant	G/A	snv			3
rs762510312	KCNH2	0.925	0.120	7	150946956	missense variant	G/A;C	snv	4.8E-05; 1.2E-05		3
rs1047624774	ATP2B4	1.000	0.120	1	203700807	missense variant	T/C	snv	4.0E-06	3.5E-05	2
rs1287693879	DNAH8	1.000	0.120	6	38737083	missense variant	T/C	snv		7.0E-06	2
rs139467962	SNTA1	1.000	0.120	20	33412702	missense variant	G/A	snv	1.6E-05	4.9E-05	2
rs199473012	KCNH2	1.000	0.120	7	150947708	missense variant	G/C	snv	2.6E-05	4.2E-05	2
rs566251672	SCN5A	1.000	0.120	3	38587437	missense variant	C/A;T	snv	4.0E-06; 1.6E-05		2