DisGeNET - a database of gene-disease associations

List of associated variants

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, C2675520

Source: CLINVAR ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	Chr	Position	Consequence	Alleles	Class	Num. diseases
rs1057518637	BRCA2	1.000	13	32336621	stop gained	C/G;T	snv	3
rs397507828	BRCA2	1.000	13	32340440	stop gained	G/T	snv	3
rs483353077	BRCA2	1.000	13	32370470	frameshift variant	TTT/AAAA;NNNN	delins	3
rs80359706	BRCA2	1.000	13	32363522	frameshift variant	-/T	delins	3
rs1057518635	BRCA2	1.000	13	32340367	frameshift variant	ATAG/-	delins	2
rs1057518638	BRCA2	1.000	13	32339317	stop gained	T/A	snv	2
rs1064793471	BRCA2	1.000	13	32340834	frameshift variant	A/-	delins	2
rs1064795216	BRCA2	1.000	13	32340734	frameshift variant	A/-	del	2
rs1131692035	BRCA2	1.000	13	32332335	stop gained	C/G	snv	2
rs1555280340	BRCA2	1.000	13	32319112	frameshift variant	TCTT/-	delins	2
rs1555280845	BRCA2	1.000	13	32325100	frameshift variant	-/T	delins	2
rs1555280955	BRCA2	1.000	13	32326142	frameshift variant	-/T	delins	2
rs1555281477	BRCA2	1.000	13	32331010	frameshift variant	AAGA/-	delins	2
rs1555281594	BRCA2	1.000	13	32332276	frameshift variant	-/G	delins	2
rs1555281599	BRCA2	1.000	13	32332289	frameshift variant	G/-	delins	2
rs1555281638	BRCA2	1.000	13	32332403	frameshift variant	-/C	delins	2
rs1555281935	BRCA2	1.000	13	32333010	stop gained	C/A	snv	2
rs1555282016	BRCA2	1.000	13	32333174	frameshift variant	A/-	del	2
rs1555282786	BRCA2	1.000	13	32337022	frameshift variant	T/-	delins	2
rs1555282830	BRCA2	1.000	13	32337109	frameshift variant	C/-	del	2
rs1555283169	BRCA2	1.000	13	32337677	stop gained	A/T	snv	2
rs1555283373	BRCA2	1.000	13	32338074	frameshift variant	GT/-	delins	2
rs1555283911	BRCA2	1.000	13	32339061	stop gained	CA/-	delins	2
rs1555283980	BRCA2	1.000	13	32339245	frameshift variant	A/-	delins	2
rs1555284094	BRCA2	1.000	13	32339538	frameshift variant	CA/-	delins	2