DisGeNET - a database of gene-disease associations

List of associated variants

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9, C1836906

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
rs121434420	PKP2	0.851	0.120	12	32879021	stop gained	G/A	snv	4.0E-06	4.9E-05	5
rs397516784	CEP85L ; PLN	0.925	0.080	6	118558957	inframe deletion	AGA/-	delins		1.4E-05	4
rs1236464864	DSP	0.882	0.120	6	7580585	stop gained	T/C;G	snv		1.4E-05	3
rs1554108477	DSP	0.882	0.120	6	7581459	stop gained	C/T	snv			3
rs111517471	PKP2	0.925	0.080	12	32796108	splice donor variant	C/A;G;T	snv	2.8E-05		3
rs1555144459	PKP2	0.925	0.120	12	32841038	frameshift variant	-/A	delins			3
rs193922674	PKP2	0.925	0.080	12	32802557	splice acceptor variant	C/G	snv	3.2E-05	2.8E-05	3
rs397516989	PKP2	0.925	0.080	12	32850932	frameshift variant	-/A	delins			3
rs397516997	PKP2	0.925	0.080	12	32896581	frameshift variant	TCTG/-	delins		2.8E-05	3
rs727504432	PKP2	0.882	0.120	12	32792712	frameshift variant	T/-	delins			3
rs869025496	PKP2	0.925	0.080	12	32877845	splice donor variant	C/A;G;T	snv	4.0E-06		3
rs121434421	PKP2	0.925	0.080	12	32802499	stop gained	G/A;C	snv	4.0E-06; 4.0E-06; 1.6E-05		2
rs1425855043	PKP2	1.000	0.080	12	32878105	stop gained	C/A	snv			2
rs144601090	PKP2	0.925	0.080	12	32821439	missense variant	A/G	snv	1.6E-05	1.1E-04	2
rs193922672	PKP2	0.925	0.080	12	32841103	stop gained	C/T	snv	1.6E-05		2
rs199601548	PKP2	1.000	0.080	12	32896548	missense variant	G/T	snv	1.4E-04	4.0E-04	2
rs372827156	PKP2	0.925	0.080	12	32850907	stop gained	G/A	snv	1.2E-05	4.9E-05	2
rs397516986	PKP2	0.925	0.080	12	32868965	stop gained	G/A	snv	4.0E-06	7.0E-06	2
rs397516990	PKP2	0.925	0.080	12	32850873	missense variant	A/G	snv			2
rs397517003	PKP2	0.925	0.080	12	32841027	splice donor variant	C/T	snv	4.0E-06		2
rs397517010	PKP2	0.925	0.080	12	32822616	frameshift variant	-/A	delins	4.0E-06; 4.0E-06		2
rs397517012	PKP2	0.925	0.080	12	32822526	stop gained	G/A	snv	4.0E-06	7.0E-06	2
rs397517013	PKP2	0.925	0.080	12	32822482	frameshift variant	-/CTTC	delins			2
rs397517021	PKP2	0.925	0.080	12	32802500	frameshift variant	GGTGTG/C;G	delins			2
rs730880179	PKP2	0.925	0.120	12	32896556	missense variant	T/A	snv	6.0E-05	1.5E-04	2