DisGeNET - a database of gene-disease associations

List of associated variants

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

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
rs1554251609	TRDN	1.000	0.080	6	123512339	frameshift variant	-/C	delins			1
rs1085307100	TRDN	0.925	0.080	6	123512344	frameshift variant	-/T	delins			2
rs763955301	CASQ2	1.000	0.080	1	115732961	frameshift variant	A/-	delins		7.0E-06	1
rs1273246817	RYR2	0.882	0.080	1	237784169	missense variant	A/C	snv			3
rs398124648	CALM2	0.925	0.080	2	47161748	missense variant	A/C	snv			2
rs1202962809	RYR2	1.000	0.080	1	237784184	missense variant	A/C	snv			1
rs1234963411	RYR2	1.000	0.080	1	237784188	missense variant	A/C	snv			1
rs747836980	TRDN	1.000	0.080	6	123255098	stop gained	A/C	snv	2.9E-05	2.1E-05	1
rs730880196	RYR2	1.000	0.080	1	237784037	missense variant	A/C;G	snv	4.0E-06		1
rs794728802	RYR2	1.000	0.080	1	237806236	missense variant	A/C;G	snv			1
rs267607277	CALM1	0.807	0.120	14	90404386	missense variant	A/G	snv			6
rs121918605	RYR2	0.925	0.080	1	237784314	missense variant	A/G	snv			2
rs1185619003	RYR2	1.000	0.080	1	237830557	missense variant	A/G	snv			1
rs1363298408	RYR2	1.000	0.080	1	237819144	missense variant	A/G	snv			1
rs1558481148	RYR2	1.000	0.080	1	237819188	missense variant	A/G	snv			1
rs1558698334	RYR2	1.000	0.080	1	237369568	missense variant	A/G	snv			1
rs753733164	RYR2	1.000	0.080	1	237784887	missense variant	A/G	snv	1.6E-05	2.8E-05	1
rs772220753	RYR2	1.000	0.080	1	237640956	missense variant	A/G	snv	4.0E-06		1
rs794728832	RYR2	1.000	0.080	1	237832628	missense variant	A/G	snv			1
rs267607276	CALM1	0.925	0.080	14	90401385	missense variant	A/G;T	snv			2
rs794728780	RYR2	1.000	0.080	1	237783707	missense variant	A/G;T	snv			1
rs121434550	CASQ2	0.925	0.080	1	115738256	missense variant	A/T	snv			2
rs121918601	RYR2	0.925	0.120	1	237640938	missense variant	A/T	snv			2
rs1415931588	RYR2	1.000	0.080	1	237377426	missense variant	A/T	snv			2
rs1349176732	RYR2	1.000	0.080	1	237445485	missense variant	A/T	snv			1