DisGeNET - a database of gene-disease associations

Source: BEFREE

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
rs903506	ERBB2	0.925	0.080	17	39723509	intron variant	G/A;T	snv	0.61; 4.1E-06		2
rs1058808	ERBB2	0.658	0.360	17	39727784	missense variant	C/G	snv	0.61	0.52	27
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		33
rs1801201	ERBB2	1.000	0.080	17	39723332	missense variant	A/C;G	snv	4.0E-06; 4.9E-03		1
rs368094521	MIR4728 ; ERBB2	0.925	0.120	17	39724861	missense variant	G/A	snv	1.2E-03	2.6E-04	5
rs527779103	ERBB2	0.925	0.080	17	39708528	missense variant	C/T	snv	5.4E-04	1.4E-04	2
rs185670819	ERBB2	0.925	0.080	17	39708523	missense variant	G/A;C	snv	5.0E-04; 4.0E-06		2
rs200382130	ERBB2	0.925	0.080	17	39710388	missense variant	G/T	snv	2.0E-04	1.2E-04	2
rs759478535	ERBB2	0.851	0.080	17	39708351	missense variant	A/G	snv	6.8E-05	4.2E-05	6
rs763371007	ERBB2			17	39709441	missense variant	G/A	snv	4.4E-05	4.9E-05	1
rs763193414	ERBB2	0.827	0.160	17	39707034	missense variant	G/A	snv	3.7E-05	4.9E-05	7
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
rs758204762	ERBB2	0.925	0.080	17	39712330	missense variant	G/A;C	snv	4.0E-06; 1.6E-05		2
rs896171398	ERBB2	1.000	0.040	17	39709846	missense variant	G/A;C	snv	1.6E-05		2
rs752295912	ERBB2	0.925	0.080	17	39710398	missense variant	C/T	snv	1.6E-05		6
rs564064363	ERBB2	0.851	0.080	17	39706998	missense variant	G/A;C	snv	1.3E-05		4
rs150203173	ERBB2	1.000	0.080	17	39716421	missense variant	G/A	snv	1.2E-05	1.4E-05	1
rs780881510	ERBB2	0.925	0.080	17	39715299	missense variant	A/C	snv	1.2E-05		2
rs542027040	MIR4728 ; ERBB2			17	39724864	missense variant	C/T	snv	1.2E-05		1
rs758222990	ERBB2 ; MIR4728	1.000	0.080	17	39725363	missense variant	C/G;T	snv	1.2E-05		1
rs749539903	ERBB2 ; MIR4728	0.827	0.120	17	39726987	missense variant	G/A	snv	8.4E-06		9
rs751074421	ERBB2	0.925	0.080	17	39715823	missense variant	C/T	snv	8.0E-06		3
rs747200104	ERBB2	0.925	0.080	17	39717388	missense variant	C/A;T	snv	8.0E-06		2
rs767151455	ERBB2	0.925	0.080	17	39708379	missense variant	C/T	snv	8.0E-06		4
rs372811772	ERBB2			17	39708435	synonymous variant	C/T	snv	8.0E-06	2.1E-05	2