DisGeNET - a database of gene-disease associations

List of associated variants

Triple-Negative Breast Carcinoma, C4722518

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
rs4986850	BRCA1	0.851	0.080	17	43093454	missense variant	C/A;T	snv	5.8E-02		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
rs564064363	ERBB2	0.851	0.080	17	39706998	missense variant	G/A;C	snv	1.3E-05		4
rs373587423	ERCC4	0.851	0.080	16	13935425	missense variant	T/C	snv	3.6E-05	7.0E-06	4
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
rs13000023	LOC101928278 ; LOC105373873	0.851	0.080	2	217059671	downstream gene variant	G/A;C;T	snv		0.19	4
rs40239	MET	0.851	0.120	7	116677823	intron variant	G/A	snv		0.87	4
rs1726801	POLD1	0.851	0.080	19	50401817	missense variant	G/A	snv	0.11	0.14	4
rs587781948	BARD1	0.882	0.200	2	214730491	stop gained	G/A	snv	1.6E-05	3.5E-05	5
rs80357367	BRCA1	0.851	0.200	17	43057090	stop gained	G/A	snv			5
rs2288349	DNMT1	0.882	0.120	19	10146569	intron variant	G/A	snv	0.36	0.35	5
rs121913016	ERCC2	0.827	0.160	19	45357368	missense variant	G/C	snv	1.2E-03	4.4E-04	5
rs1054135	FABP4 ; LOC101927118	0.851	0.240	8	81478525	3 prime UTR variant	C/T	snv		0.17	5
rs587779287	FBXO11 ; MSH6	0.827	0.200	2	47806280	frameshift variant	GTACATTATTTTC/-	delins			5
rs8100241	USHBP1 ; ANKLE1	0.827	0.120	19	17282085	missense variant	G/A	snv	0.47	0.47	5
rs750040814	XPC	0.827	0.160	3	14158639	missense variant	C/T	snv	1.6E-05	5.6E-05	5
rs4415084		0.827	0.080	5	44662413	upstream gene variant	C/T	snv		0.49	6
rs587780021	BARD1	0.851	0.200	2	214745842	stop gained	G/A	snv	2.4E-05	2.8E-05	6
rs8176318	BRCA1	0.807	0.120	17	43045257	3 prime UTR variant	C/A	snv	0.34	0.29	6
rs397507758	BRCA2	0.807	0.200	13	32339456	stop gained	C/T	snv			6
rs9485372	TAB2	0.807	0.120	6	149287738	intron variant	G/A	snv		0.20	6
rs4849887		0.807	0.080	2	120487546	intergenic variant	T/A;C	snv			7