DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Source: CLINVAR ×

Results per page

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
rs41293459	BRCA1	0.763	0.280	17	43063930	missense variant	C/A;G;T	snv	2.4E-05		4
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs80358638	BRCA2	0.776	0.280	13	32338277	stop gained	G/A;T	snv		5.6E-05	4
rs80358785	BRCA2	0.790	0.240	13	32340000	stop gained	C/A;G	snv	1.6E-05		9
rs118203998	PALB2	0.790	0.400	16	23603471	stop gained	G/C;T	snv	1.6E-05; 4.0E-06		8
rs180177132	PALB2	0.790	0.280	16	23621362	stop gained	C/T	snv	6.0E-05	2.1E-05	8
rs45580035	BRCA2	0.790	0.240	13	32380043	missense variant	C/T	snv	1.2E-05		8
rs41293463	BRCA1	0.790	0.280	17	43051071	missense variant	A/C;T	snv	1.2E-05		3
rs80356952	BRCA1	0.790	0.200	17	43093901	stop gained	G/A	snv			3
rs80357115	BRCA1	0.790	0.200	17	43092597	stop gained	A/C;T	snv			3
rs80357750	BRCA1	0.790	0.200	17	43115759	frameshift variant	G/-	delins			2
rs1135401891	BRCA2	0.790	0.280	13	32332796	frameshift variant	-/CT	ins			1
rs80359473	BRCA2	0.807	0.400	13	32339288	frameshift variant	GAAA/-	delins			12
rs80356962	BRCA1	0.807	0.200	17	43047666	stop gained	C/G;T	snv	4.0E-06	7.0E-06	8
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
rs80359601	BRCA2	0.807	0.360	13	32340890	frameshift variant	-/A;NNNNNNNN	ins	4.1E-06		8
rs397507419	BRCA2	0.807	0.200	13	32379886	frameshift variant	AAAA/-;AAA;AAAAA	delins	4.0E-06		7
rs28897696	BRCA1	0.807	0.200	17	43063903	missense variant	G/A;C;T	snv	2.8E-05; 4.0E-06; 2.0E-05		5
rs397508986	BRCA1	0.807	0.280	17	43092919	frameshift variant	G/AA	delins			3
rs397507758	BRCA2	0.807	0.200	13	32339456	stop gained	C/T	snv			2
rs587780174	CHEK2	0.827	0.360	22	28695239	frameshift variant	A/-	delins	4.4E-05	5.6E-05	7
rs80356978	BRCA1	0.827	0.200	17	43092809	stop gained	C/A;T	snv			7
rs80357123	BRCA1	0.827	0.200	17	43057078	stop gained	G/A;C;T	snv	1.2E-05		7
rs80357906	BRCA1	0.827	0.200	17	43057062	frameshift variant	-/G	delins	1.8E-04		7