DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Primary malignant neoplasm of lung ×

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
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	27
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
rs1196929947	ERBB2	0.882	0.080	17	39723351	missense variant	G/A	snv			3
rs121913469	ERBB2	0.763	0.240	17	39723966	missense variant	TT/CC	mnv			3
rs1057519857	ERBB2 ; MIR4728	0.882	0.080	17	39724772	missense variant	T/C	snv			3