DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Malignant neoplasm of breast ×

Variants associated to the Gene: BRCA2 ×

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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
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
rs397507419	BRCA2	0.807	0.200	13	32379886	frameshift variant	AAAA/-;AAA;AAAAA	delins	4.0E-06		7
rs397507758	BRCA2	0.807	0.200	13	32339456	stop gained	C/T	snv			2
rs80358981	BRCA2	0.827	0.200	13	32356550	stop gained	C/T	snv	2.0E-05	1.4E-05	7
rs80359596	BRCA2	0.827	0.240	13	32340817	frameshift variant	TCTC/-;TC;TCTCTC	delins			6
rs28897743	BRCA2	0.827	0.280	13	32346896	missense variant	G/A;C;T	snv	4.0E-06		5
rs80359065	BRCA2	0.827	0.240	13	32363389	missense variant	G/A;T	snv	7.9E-04		1
rs80359130	BRCA2	0.827	0.200	13	32376769	missense variant	C/A;G;T	snv	8.0E-06		1
rs80359351	BRCA2	0.851	0.200	13	32337161	frameshift variant	ACAA/-	delins		2.1E-05	6
rs587781629	BRCA2	0.851	0.200	13	32333388	splice donor variant	G/A	snv			5
rs80358533	BRCA2	0.851	0.200	13	32337185	stop gained	A/T	snv	8.0E-06	7.0E-06	5
rs80359027	BRCA2	0.851	0.200	13	32362693	missense variant	G/A;C	snv	4.0E-06		5
rs80359380	BRCA2	0.851	0.200	13	32337618	frameshift variant	-/T;TT	delins			5
rs80359405	BRCA2	0.851	0.200	13	32338201	frameshift variant	GT/-	delins			5
rs80359406	BRCA2	0.851	0.200	13	32338209	frameshift variant	AAAA/-;A;AA;AAA;AAAAA	delins		7.0E-06	5
rs80359484	BRCA2	0.851	0.200	13	32339483	frameshift variant	TGTA/-	delins			5
rs80359705	BRCA2	0.851	0.200	13	32363499	frameshift variant	C/-	del		7.0E-06	5
rs80359770	BRCA2	0.851	0.200	13	32332429	frameshift variant	A/-;AA	delins			5
rs80359777	BRCA2	0.851	0.240	13	32332466	frameshift variant	AA/-;A;AAA;AAAA	delins			5
rs81002836	BRCA2	0.851	0.200	13	32362521	splice acceptor variant	A/G;T	snv			5
rs28897759	BRCA2	0.851	0.200	13	32394803	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		4
rs41293477	BRCA2	0.851	0.200	13	32337513	stop gained	T/G	snv		7.0E-06	3
rs80358547	BRCA2	0.851	0.200	13	32316462	start lost	T/A;C;G	snv	8.0E-06		3
rs80358561	BRCA2	0.851	0.200	13	32319323	stop gained	T/G	snv			3