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
rs121918600	RYR2	0.882	0.080	1	237791441	missense variant	C/T	snv			5
rs121918598	RYR2	0.851	0.080	1	237648523	missense variant	G/A;C	snv			4
rs11551437	CALM2	1.000	0.080	2	47161833	missense variant	G/A	snv			3
rs121918603	RYR2	0.882	0.080	1	237639068	missense variant	C/T	snv			3
rs121918604	RYR2	0.882	0.080	1	237798037	missense variant	G/A;T	snv	1.7E-05		3
rs121918606	RYR2	0.925	0.080	1	237819181	missense variant	C/G	snv			3
rs1273246817	RYR2	0.882	0.080	1	237784169	missense variant	A/C	snv			3
rs1458500258	RYR2	0.925	0.080	1	237388098	missense variant	G/T	snv		7.0E-06	3
rs397515458	TRDN ; TRDN-AS1	0.925	0.080	6	123503899	stop gained	G/A	snv	3.1E-05	5.6E-05	3
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
rs1085307100	TRDN	0.925	0.080	6	123512344	frameshift variant	-/T	delins			2
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
rs121918597	RYR2	0.925	0.080	1	237634937	missense variant	C/T	snv			2
rs121918599	RYR2	0.925	0.080	1	237784024	missense variant	C/G	snv			2
rs121918605	RYR2	0.925	0.080	1	237784314	missense variant	A/G	snv			2
rs1401116572	RYR2	1.000	0.080	1	237441382	missense variant	G/A	snv			2
rs1415931588	RYR2	1.000	0.080	1	237377426	missense variant	A/T	snv			2
rs267607276	CALM1	0.925	0.080	14	90401385	missense variant	A/G;T	snv			2
rs398124648	CALM2	0.925	0.080	2	47161748	missense variant	A/C	snv			2
rs398124649	CALM2	0.925	0.080	2	47161737	missense variant	T/G	snv			2
rs730880199	RYR2	0.925	0.080	1	237819167	missense variant	T/G	snv			2
rs764772142	RYR2	0.925	0.080	1	237377349	missense variant	C/A;T	snv	8.0E-06		2
rs768049331	LOC105377982 ; TRDN	0.925	0.080	6	123571099	frameshift variant	GTCT/-	delins	2.8E-05	2.2E-04	2