DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant neoplasm of ovary ×

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
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		34
rs1801200	ERBB2	0.790	0.200	17	39723335	missense variant	A/G;T	snv			7
rs28933370	MIR4728 ; ERBB2	0.882	0.120	17	39725125	missense variant	A/G	snv		7.0E-06	3