DisGeNET - a database of gene-disease associations

List of associated variants

Mammary Neoplasms, C1458155

Source: CLINVAR ×

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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
rs1057519737	MIR4728 ; ERBB2			17	39724750	inframe insertion	-/GCTCCCCAG	delins			1
rs397516979	ERBB2 ; MIR4728	1.000	0.080	17	39724744	protein altering variant	-/TCT;TGT;TTT	ins			2
rs1131692241	ERBB2			17	39723966	inframe deletion	TGAGGGAAAACACAT/-	delins			1
rs1555444543	HERC2			15	28260816	inframe deletion	GTCCAGTCCTGGCAA/-	del			1
rs80357287	NBR2 ; BRCA1	0.882	0.200	17	43124096	start lost	T/C	snv			4
rs1555280073	BRCA2			13	32316454	start lost	TAAAAATGCCTATTGG/-	delins			1
rs866775781	TP53	0.716	0.440	17	7675216	splice acceptor variant	C/A;G	snv			17
rs1057519996	TP53	0.701	0.360	17	7675217	splice acceptor variant	T/A;C;G	snv			16
rs1800747	BRCA1	0.882	0.200	17	43063952	splice acceptor variant	C/A;G;T	snv			5
rs80357973	BRCA1	0.925	0.200	17	43045793	splice acceptor variant	CCAATTGC/-;CCAATTGCCCAATTGC	delins			4
rs397508940	BRCA1	1.000		17	43104958	splice acceptor variant	T/C;G	snv			2
rs80358146	BRCA1	1.000		17	43104957	splice acceptor variant	C/A;T	snv			2
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs80359550	BRCA2	0.807	0.280	13	32340301	frameshift variant	T/-	del		1.8E-04	8
rs80359584	BRCA2	0.807	0.280	13	32340757	frameshift variant	CTTAA/-	delins	4.2E-06	1.4E-05	8
rs80357906	BRCA1	0.827	0.200	17	43057062	frameshift variant	-/G	delins	1.8E-04		7
rs80357783	NBR2 ; BRCA1	0.851	0.200	17	43124030	frameshift variant	-/T	delins	4.0E-06		6
rs80359351	BRCA2	0.851	0.200	13	32337161	frameshift variant	ACAA/-	delins		2.1E-05	6
rs587776416	PALB2	0.882	0.240	16	23629986	frameshift variant	AT/-	del	6.4E-05	2.1E-05	5
rs80357888	BRCA1	0.882	0.200	17	43094023	frameshift variant	ATTTA/-	delins			5
rs121913289	PTEN	1.000	0.080	10	87958013	frameshift variant	A/-	delins			4
rs587782780	BRCA2	0.925	0.200	13	32336414	frameshift variant	GATTA/-	del	4.0E-06		4
rs80357635	BRCA1	0.882	0.200	17	43092302	frameshift variant	CT/-	delins	4.0E-06		4
rs80357701	BRCA1	0.925	0.200	17	43092197	frameshift variant	GCTT/-	delins			4