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
rs718282		0.925	0.080	7	152638744	intergenic variant	A/G	snv		0.94	2
rs473543	ATG5	0.925	0.080	6	106327811	upstream gene variant	A/C;G	snv			2
rs7250266	BABAM1 ; USHBP1	0.925	0.080	19	17266803	intron variant	C/G	snv		8.5E-02	2
rs1064793309	BRCA1	0.925	0.080	17	43063889	missense variant	C/T	snv			2
rs772885662	BRCA1	0.925	0.080	17	43063911	synonymous variant	T/C;G	snv	4.0E-06; 4.0E-06		2
rs552752779	BRIP1	0.925	0.080	17	61784427	splice region variant	A/C;G	snv	4.0E-06; 2.1E-04		2
rs1651654	C16orf87	0.925	0.080	16	46822677	intron variant	T/C	snv		0.79	2
rs769772228	CXCR4	0.925	0.080	2	136115346	missense variant	C/G	snv	2.0E-05	4.9E-05	2
rs527779103	ERBB2	0.925	0.080	17	39708528	missense variant	C/T	snv	5.4E-04	1.4E-04	2
rs10274701	EZH2	0.925	0.080	7	148855364	intron variant	C/T	snv		0.76	2
rs2491231	FLT3	0.925	0.080	13	28036046	splice region variant	A/G	snv	0.71	0.61	2
rs635538	LOC105372126 ; TCF4	0.925	0.080	18	55606383	intron variant	G/A	snv		0.94	2
rs80350973	LOC730100	0.925	0.080	2	52252219	intron variant	A/T	snv		2.1E-05	2
rs72631823	MIR34A ; MIR34AHG	0.925	0.080	1	9151723	non coding transcript exon variant	C/T	snv	1.2E-04	4.1E-04	2
rs184967	MSH3	0.925	0.080	5	80854162	missense variant	A/G;T	snv	0.87		2
rs148047459	MUL1	0.925	0.080	1	20501166	missense variant	G/A	snv	8.0E-06	2.1E-05	2
rs2077197	PARP1	0.925	0.080	1	226408338	upstream gene variant	C/G;T	snv			2
rs7527192	PARP1	0.925	0.080	1	226408378	upstream gene variant	C/T	snv		0.23	2
rs2278256	USHBP1 ; BABAM1	0.925	0.080	19	17267350	intron variant	T/C	snv		0.23	2
rs769483475	CD44	0.925	0.080	11	35229231	missense variant	G/A	snv	8.0E-06		3
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
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
rs527616	AQP4-AS1	0.851	0.080	18	26757460	intron variant	C/G	snv		0.71	4
rs1436904	AQP4-AS1 ; CHST9	0.851	0.080	18	26990703	intron variant	T/G	snv		0.35	4