DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Breast Carcinoma ×

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
rs121913470	ERBB2	0.776	0.200	17	39723967	missense variant	T/C;G	snv			7
rs121913471	MIR4728 ; ERBB2	0.807	0.120	17	39724747	missense variant	G/A;C;T	snv			3
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	1
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		1
rs28933368	ERBB2 ; MIR4728	0.851	0.080	17	39725721	missense variant	G/A	snv			1