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

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
rs1135401927	BRCA2	0.882	0.200	13	32376691	frameshift variant	-/A	delins			4
rs483353122	BRCA2	0.851	0.200	13	32363410	frameshift variant	-/AG	ins			4
rs730881619	BRCA2	0.882	0.200	13	32398403	frameshift variant	-/ATTT	delins			4
rs587779364	BRCA2	0.882	0.200	13	32339717	frameshift variant	-/C	delins			4
rs876659327	BRCA1	0.882	0.200	17	43094390	frameshift variant	-/C	delins			4
rs80357906	BRCA1	0.827	0.200	17	43057062	frameshift variant	-/G	delins	1.8E-04		8
rs387906563	BRCA1	0.882	0.200	17	43094706	frameshift variant	-/GCTCCACATG	delins	6.0E-05; 4.0E-06		4
rs754611265	BRCA2	0.882	0.200	13	32346886	frameshift variant	-/T	delins		7.0E-06	4
rs786203521	BRIP1	0.882	0.280	17	61849195	stop gained	-/T	delins			4
rs80357729	BRCA1	0.851	0.200	17	43091903	frameshift variant	-/T	delins	8.0E-06		5
rs80357783	NBR2 ; BRCA1	0.851	0.200	17	43124030	frameshift variant	-/T	delins	4.0E-06		6
rs80357902	BRCA1	0.882	0.200	17	43091882	frameshift variant	-/T	delins	4.0E-06; 8.4E-05; 4.0E-06		4
rs80359380	BRCA2	0.851	0.200	13	32337618	frameshift variant	-/T;TT	delins			5
rs1555461618	PALB2	0.925	0.200	16	23635743	frameshift variant	-/TA	delins			2
rs864622401	BRCA2	0.882	0.200	13	32339092	frameshift variant	-/TG	delins			4
rs397515636	BRCA2	0.882	0.200	13	32338329	frameshift variant	-/TGCT	delins			4
rs80359266	BRCA2	0.882	0.200	13	32332668	stop gained	-/TTAG	ins			3
rs397509312	BRCA1	0.882	0.200	17	43094794	frameshift variant	A/-	delins			3
rs587780174	CHEK2	0.827	0.360	22	28695239	frameshift variant	A/-	delins	4.4E-05	5.6E-05	7
rs80357929	BRCA1	0.851	0.200	17	43092663	frameshift variant	A/-	del			4
rs80359401	BRCA2	0.882	0.200	13	32338070	frameshift variant	A/-	delins			4
rs869320799	BRCA2	0.882	0.200	13	32379492	frameshift variant	A/-	del			4
rs80359301	BRCA2	0.882	0.200	13	32333228	frameshift variant	A/-;AA	delins			3
rs80359770	BRCA2	0.851	0.200	13	32332429	frameshift variant	A/-;AA	delins			5
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv		6.2E-02	29