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
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		33
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
rs749539903	ERBB2 ; MIR4728	0.827	0.120	17	39726987	missense variant	G/A	snv	8.4E-06		9
rs1801200	ERBB2	0.790	0.200	17	39723335	missense variant	A/G;T	snv			7
rs763193414	ERBB2	0.827	0.160	17	39707034	missense variant	G/A	snv	3.7E-05	4.9E-05	7
rs1057519816	ERBB2	0.763	0.200	17	39711955	missense variant	C/A;T	snv			6
rs752295912	ERBB2	0.925	0.080	17	39710398	missense variant	C/T	snv	1.6E-05		6
rs759478535	ERBB2	0.851	0.080	17	39708351	missense variant	A/G	snv	6.8E-05	4.2E-05	6
rs121913470	ERBB2	0.776	0.200	17	39723967	missense variant	T/C;G	snv			6
rs1284110310	ERBB2	0.882	0.200	17	39706999	missense variant	G/A	snv		7.0E-06	5
rs61552325	ERBB2	0.882	0.080	17	39727784	missense variant	C/G	snv			5
rs368094521	MIR4728 ; ERBB2	0.925	0.120	17	39724861	missense variant	G/A	snv	1.2E-03	2.6E-04	5
rs121913471	MIR4728 ; ERBB2	0.807	0.120	17	39724747	missense variant	G/A;C;T	snv			5
rs1485579458	ERBB2	0.851	0.080	17	39723921	missense variant	A/G	snv	4.0E-06		4
rs767151455	ERBB2	0.925	0.080	17	39708379	missense variant	C/T	snv	8.0E-06		4
rs564064363	ERBB2	0.851	0.080	17	39706998	missense variant	G/A;C	snv	1.3E-05		4
rs28933368	ERBB2 ; MIR4728	0.851	0.080	17	39725721	missense variant	G/A	snv			4
rs777081311	ERBB2	0.925	0.080	17	39710347	missense variant	T/C	snv	4.0E-06		3
rs1416532705	ERBB2	0.882	0.080	17	39709435	missense variant	C/T	snv	4.0E-06		3
rs751074421	ERBB2	0.925	0.080	17	39715823	missense variant	C/T	snv	8.0E-06		3
rs977818812	ERBB2	1.000	0.040	17	39723608	missense variant	A/T	snv			3
rs967815855	ERBB2	0.882	0.120	17	39723607	missense variant	G/A	snv			3
rs121913469	ERBB2	0.763	0.240	17	39723966	missense variant	TT/CC	mnv			3
rs1196929947	ERBB2	0.882	0.080	17	39723351	missense variant	G/A	snv			3