DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of breast, C0006142

Disease: Hereditary Breast and Ovarian Cancer Syndrome

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
rs1555283256	BRCA2	0.925	0.200	13	32337816	frameshift variant	C/-	delins			2
rs1555461618	PALB2	0.925	0.200	16	23635743	frameshift variant	-/TA	delins			2
rs1555461870	PALB2	0.925	0.200	16	23636317	frameshift variant	AT/-	delins			2
rs1555460445	PALB2	0.925	0.200	16	23629936	stop gained	G/A	snv			3
rs180177083	PALB2	0.925	0.200	16	23637865	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		3
rs180177126	PALB2	0.925	0.200	16	23623044	frameshift variant	TT/-	delins			3
rs375699023	PALB2	0.925	0.200	16	23635504	stop gained	G/A;T	snv	4.0E-05		3
rs397507637	BRCA2	0.882	0.200	13	32337056	frameshift variant	C/-	del			3
rs397508058	BRCA2	0.882	0.200	13	32394934	splice donor variant	G/A;T	snv			3
rs397509312	BRCA1	0.882	0.200	17	43094794	frameshift variant	A/-	delins			3
rs587779358	BRCA2	0.925	0.200	13	32333295	stop gained	CGA/TTT	mnv			3
rs587780024	BARD1	0.925	0.200	2	214730458	stop gained	CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC	delins			3
rs587781699	CHEK2	0.925	0.200	22	28703504	splice donor variant	C/A;G;T	snv			3
rs587782008	CHEK2	0.925	0.200	22	28725084	inframe deletion	TCT/-	delins	1.6E-05		3
rs587782190	BRCA1	0.882	0.200	17	43091731	stop gained	A/C;G	snv		7.0E-06	3
rs730881614	BRCA2	0.882	0.200	13	32363179	frameshift variant	ATGATACGGAAAT/-	delins			3
rs760815829	BRCA2	0.882	0.200	13	32332667	stop gained	C/T	snv			3
rs767633741	PALB2	0.925	0.200	16	23626377	frameshift variant	G/-;GG	delins			3
rs786203821	PALB2	0.925	0.200	16	23635606	stop gained	G/A	snv		1.4E-05	3
rs786204752	BRCA2	0.882	0.200	13	32337092	frameshift variant	ACTTG/-	delins			3
rs796666047	BARD1	0.925	0.200	2	214780669	stop gained	G/C;T	snv	8.0E-06		3
rs80356935	BRCA1	0.882	0.200	17	43094472	stop gained	C/G;T	snv			3
rs80357227	BRCA1	0.882	0.200	17	43057113	missense variant	T/A;C	snv			3
rs80357650	BRCA1	0.882	0.200	17	43093290	frameshift variant	G/-;GG	delins			3
rs80357885	BRCA1	0.882	0.200	17	43093579	frameshift variant	T/-;TT	delins			3