DisGeNET - a database of gene-disease associations

List of shared variants

VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder), C1631597

Disease: Stress-induced polymorphic ventricular tachycardia

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
rs749547712	CASQ2	0.882	0.080	1	115768444	missense variant	C/T	snv	1.2E-05		3
rs794728721	RYR2	0.925	0.080	1	237445489	missense variant	G/A	snv			3
rs121434549	CASQ2	0.925	0.080	1	115705212	missense variant	C/G;T	snv	8.0E-06		2
rs121434550	CASQ2	0.925	0.080	1	115738256	missense variant	A/T	snv			2
rs886039816	CASQ2	0.925	0.080	1	115732968	missense variant	T/C	snv			2