DisGeNET - a database of gene-disease associations

List of shared variants

Congenital long QT syndrome, C1141890

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
rs121434500	SNTA1	0.851	0.120	20	33410203	missense variant	G/A	snv	2.0E-05	1.4E-05	5
rs199473103	SCN5A	0.925	0.120	3	38606102	missense variant	A/G	snv			3
rs554903493	SLCO6A1	1.000	0.120	5	102419940	missense variant	G/A	snv	8.2E-06		2