DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathy, Dilated ×

Variants associated to the Gene: BAG3 ×

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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
rs869248137	BAG3	0.882	0.120	10	119676479	stop gained	C/A;T	snv	4.0E-06		4
rs387906875	BAG3	0.925	0.080	10	119670037	stop gained	C/T	snv	8.0E-06		3
rs397516881	BAG3	0.827	0.120	10	119676917	missense variant	G/A	snv			3
rs876657634	BAG3	0.925	0.080	10	119672477	stop gained	C/T	snv			3
rs727505109	BAG3	1.000		10	119676617	frameshift variant	C/-	delins			2
rs1554875409	BAG3			10	119651752	stop gained	G/A	snv			1
rs1564773559	BAG3			10	119669920	frameshift variant	-/TGTGTAC	delins			1
rs727502897	BAG3			10	119651742	frameshift variant	C/-;CC	delins			1
rs727505283	BAG3			10	119651774	frameshift variant	ACCGGCTG/-	delins			1
rs730880055	BAG3			10	119676851	stop gained	C/T	snv			1
rs869025365	BAG3			10	119672657	splice donor variant	G/A	snv			1