DisGeNET - a database of gene-disease associations

List of shared variants

Long QT Syndrome, C0023976

Disease: Sudden infant death syndrome

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
rs72546668	SSUH2 ; CAV3	0.807	0.200	3	8745644	missense variant	C/A;T	snv	4.0E-06; 2.6E-03		8
rs199473124	SCN5A	0.851	0.120	3	38603902	missense variant	A/T	snv	8.0E-06	7.0E-06	4
rs199473604	SCN5A	0.882	0.120	3	38560394	missense variant	G/T	snv			4
rs1064795287	KCNH2	0.925	0.120	7	150947683	frameshift variant	GG/T	delins			2
rs199473014	KCNH2	0.925	0.120	7	150947684	missense variant	G/T	snv		2.1E-05	2