DisGeNET - a database of gene-disease associations

List of associated variants

HER2 gene amplification, C1512127

Source: ALL

Results per page

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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs1057519861	EGFR ; EGFR-AS1	0.776	0.080	7	55181398	missense variant	T/A	snv			15
rs1057519816	ERBB2	0.763	0.200	17	39711955	missense variant	C/A;T	snv			14
rs121913471	MIR4728 ; ERBB2	0.807	0.120	17	39724747	missense variant	G/A;C;T	snv			8
rs121913468	ERBB2	0.827	0.160	17	39724008	missense variant	G/A;C;T	snv			7
rs772092699	EPHB2	0.925	0.080	1	22912497	missense variant	C/A;G;T	snv	4.0E-06		3
rs780881510	ERBB2	0.925	0.080	17	39715299	missense variant	A/C	snv	1.2E-05		2
rs121909644	FGFR1	0.925	0.160	8	38413795	missense variant	C/A;T	snv			2
rs149860212	TSC2	1.000		16	2074317	missense variant	G/A;C	snv	4.0E-06; 8.0E-06		1