DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Myopathy, Myofibrillar, Bag3-Related ×

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
rs121918312	BAG3	0.776	0.160	10	119672373	missense variant	C/A;T	snv			4
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
rs1057517945	BAG3	0.925	0.080	10	119669938	stop gained	C/T	snv			2
rs1554877001	BAG3	0.925	0.080	10	119669932	stop gained	C/T	snv			2
rs1564767043	BAG3	0.925	0.080	10	119651821	stop gained	G/A	snv			2
rs1564773589	BAG3	0.925	0.080	10	119669946	frameshift variant	-/T	delins			2
rs1564774433	BAG3	0.925	0.080	10	119672284	stop gained	C/A	snv			2
rs876661342	BAG3	0.925	0.080	10	119672446	stop gained	C/A	snv			2