DisGeNET - a database of gene-disease associations

List of associated variants

Triple Negative Breast Neoplasms, C3539878

Source: ALL

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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
rs1064793184	FBXO11 ; MSH6	0.851	0.080	2	47791055	missense variant	A/G	snv			4
rs1114167795	FBXO11 ; MSH6	0.851	0.080	2	47799482	missense variant	C/T	snv			4
rs12662670	CCDC170	0.851	0.080	6	151597721	intron variant	T/C;G	snv			4
rs142030651	EP300	0.851	0.080	22	41117723	missense variant	G/A;C	snv	6.1E-03		4
rs1485579458	ERBB2	0.851	0.080	17	39723921	missense variant	A/G	snv	4.0E-06		4
rs4986850	BRCA1	0.851	0.080	17	43093454	missense variant	C/A;T	snv	5.8E-02		4
rs564064363	ERBB2	0.851	0.080	17	39706998	missense variant	G/A;C	snv	1.3E-05		4
rs141366047	PRKN	0.882	0.120	6	161785829	missense variant	G/A;C;T	snv	4.0E-06; 1.2E-05; 9.6E-05		3
rs769483475	CD44	0.925	0.080	11	35229231	missense variant	G/A	snv	8.0E-06		3
rs1064793309	BRCA1	0.925	0.080	17	43063889	missense variant	C/T	snv			2
rs184967	MSH3	0.925	0.080	5	80854162	missense variant	A/G;T	snv	0.87		2
rs2077197	PARP1	0.925	0.080	1	226408338	upstream gene variant	C/G;T	snv			2
rs473543	ATG5	0.925	0.080	6	106327811	upstream gene variant	A/C;G	snv			2
rs552752779	BRIP1	0.925	0.080	17	61784427	splice region variant	A/C;G	snv	4.0E-06; 2.1E-04		2
rs772885662	BRCA1	0.925	0.080	17	43063911	synonymous variant	T/C;G	snv	4.0E-06; 4.0E-06		2
rs863225441	MRE11	1.000	0.080	11	94470587	missense variant	G/A;C	snv			1
rs373587423	ERCC4	0.851	0.080	16	13935425	missense variant	T/C	snv	3.6E-05	7.0E-06	4
rs765433422	PTEN	0.807	0.160	10	87952250	stop gained	G/A;T	snv	8.0E-06	7.0E-06	7
rs780439043	EGFR	0.925	0.080	7	55205301	missense variant	A/G	snv	8.0E-06	1.4E-05	3
rs1235679626	MORC2	0.925	0.080	22	30940834	missense variant	C/T	snv		1.4E-05	3
rs148047459	MUL1	0.925	0.080	1	20501166	missense variant	G/A	snv	8.0E-06	2.1E-05	2
rs80350973	LOC730100	0.925	0.080	2	52252219	intron variant	A/T	snv		2.1E-05	2
rs746702110	OGG1	0.627	0.480	3	9756778	missense variant	C/T	snv	1.2E-05	2.8E-05	38
rs587780021	BARD1	0.851	0.200	2	214745842	stop gained	G/A	snv	2.4E-05	2.8E-05	6
rs587781948	BARD1	0.882	0.200	2	214730491	stop gained	G/A	snv	1.6E-05	3.5E-05	5