DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Primary malignant neoplasm ×

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		33
rs749539903	ERBB2 ; MIR4728	0.827	0.120	17	39726987	missense variant	G/A	snv	8.4E-06		9
rs752295912	ERBB2	0.925	0.080	17	39710398	missense variant	C/T	snv	1.6E-05		6
rs368094521	MIR4728 ; ERBB2	0.925	0.120	17	39724861	missense variant	G/A	snv	1.2E-03	2.6E-04	5
rs977818812	ERBB2	1.000	0.040	17	39723608	missense variant	A/T	snv			3
rs372811772	ERBB2			17	39708435	synonymous variant	C/T	snv	8.0E-06	2.1E-05	2