DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathies ×

Variants associated to the Gene: PKP2 ×

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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
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
rs397516997	PKP2	0.925	0.080	12	32896581	frameshift variant	TCTG/-	delins		2.8E-05	3
rs869025496	PKP2	0.925	0.080	12	32877845	splice donor variant	C/A;G;T	snv	4.0E-06		3
rs1425855043	PKP2	1.000	0.080	12	32878105	stop gained	C/A	snv			2
rs1555142963	PKP2			12	32822477	frameshift variant	TCCTGCTTCGACTGCCAAAACAT/-	delins			1
rs1565590176	PKP2			12	32850767	splice region variant	T/A	snv			1
rs1565590309	PKP2			12	32850910	stop gained	G/A	snv			1