DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Adenocarcinoma of lung (disorder) ×

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
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
rs1057519816	ERBB2	0.763	0.200	17	39711955	missense variant	C/A;T	snv			14
rs121913469	ERBB2	0.763	0.240	17	39723966	missense variant	TT/CC	mnv			11
rs564064363	ERBB2	0.851	0.080	17	39706998	missense variant	G/A;C	snv	1.3E-05		4
rs977818812	ERBB2	1.000	0.040	17	39723608	missense variant	A/T	snv			3
rs1057519787	ERBB2	1.000	0.040	17	39711952	missense variant	G/A;C	snv			2
rs896171398	ERBB2	1.000	0.040	17	39709846	missense variant	G/A;C	snv	1.6E-05		2
rs1131692237	ERBB2 ; MIR4728	1.000	0.040	17	39725161	missense variant	T/G	snv			2
rs397516975	MIR4728 ; ERBB2	0.925	0.080	17	39724728	inframe insertion	-/ATACGTGATGGC	delins			2
rs587776805	ERBB2 ; MIR4728	1.000	0.040	17	39724745	inframe insertion	-/TGTGGGCTC	delins			1