DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Mammary Neoplasms ×

Variants associated to the Gene: ERBB3 ×

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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
rs1057519893	ERBB3	0.790	0.160	12	56085070	missense variant	G/A;T	snv			8
rs1057519891	ERBB3	0.851	0.160	12	56088557	missense variant	G/A;T	snv	4.0E-06		5
rs1057519892	ERBB3	0.851	0.160	12	56088558	missense variant	A/T	snv			5