DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Familial dilated cardiomyopathy ×

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
rs751261054	BAG3	1.000	0.040	10	119672583	stop gained	C/A;T	snv	4.0E-06		1