DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Adenocarcinoma ×

Variants associated to the Gene: ERBB2 ×

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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
rs372043866	ERBB2	0.732	0.240	17	39727965	missense variant	G/A;C;T	snv	3.2E-05; 2.4E-05; 1.2E-05		18
rs1057519816	ERBB2	0.763	0.200	17	39711955	missense variant	C/A;T	snv			14
rs542027040	MIR4728 ; ERBB2			17	39724864	missense variant	C/T	snv	1.2E-05		1