DisGeNET - a database of gene-disease associations

Source: CLINVAR

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	Num. diseases
rs869248137	BAG3	0.882	0.120	10	119676479	stop gained	C/A;T	snv	4.0E-06	4
rs121918312	BAG3	0.776	0.160	10	119672373	missense variant	C/A;T	snv		4
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
rs387906875	BAG3	0.925	0.080	10	119670037	stop gained	C/T	snv	8.0E-06	3
rs727505109	BAG3	1.000		10	119676617	frameshift variant	C/-	delins		2
rs1564774433	BAG3	0.925	0.080	10	119672284	stop gained	C/A	snv		2
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
rs876661342	BAG3	0.925	0.080	10	119672446	stop gained	C/A	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
rs727502897	BAG3			10	119651742	frameshift variant	C/-;CC	delins		1
rs869025365	BAG3			10	119672657	splice donor variant	G/A	snv		1
rs730880055	BAG3			10	119676851	stop gained	C/T	snv		1
rs1564773559	BAG3			10	119669920	frameshift variant	-/TGTGTAC	delins		1
rs1554875409	BAG3			10	119651752	stop gained	G/A	snv		1
rs727505283	BAG3			10	119651774	frameshift variant	ACCGGCTG/-	delins		1
rs751261054	BAG3	1.000	0.040	10	119672583	stop gained	C/A;T	snv	4.0E-06	1
rs117749531	BAG3	1.000		10	119676794	stop gained	G/A;T	snv	3.5E-04	1
rs1135402750	BAG3	1.000		10	119672416	frameshift variant	-/T	delins		1
rs387906876	BAG3	0.925	0.040	10	119676984	missense variant	G/A	snv		1
rs1554877224	BAG3	1.000		10	119672353	frameshift variant	-/C	delins		1
rs1060502815	BAG3	1.000		10	119676899	stop gained	A/G;T	snv	4.0E-06	1
rs1554877765	BAG3	1.000		10	119676710	frameshift variant	-/C	delins		1