DisGeNET - a database of gene-disease associations

List of associated variants

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

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
rs80359473	BRCA2	0.807	0.400	13	32339288	frameshift variant	GAAA/-	delins			12
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
rs397507758	BRCA2	0.807	0.200	13	32339456	stop gained	C/T	snv			6
rs28897743	BRCA2	0.827	0.280	13	32346896	missense variant	G/A;C;T	snv	4.0E-06		8
rs80358981	BRCA2	0.827	0.200	13	32356550	stop gained	C/T	snv	2.0E-05	1.4E-05	7
rs80359180	BRCA2	0.827	0.280	13	32380085	stop gained	C/A;G;T	snv			6
rs80359306	BRCA2	0.827	0.280	13	32333284	frameshift variant	A/-;AA	delins			6
rs80359596	BRCA2	0.827	0.240	13	32340817	frameshift variant	TCTC/-;TC;TCTCTC	delins			6
rs81002885	BRCA2	0.827	0.280	13	32316529	splice donor variant	T/A;C;G	snv	4.0E-06		6
rs80359636	BRCA2	0.851	0.240	13	32354921	frameshift variant	CT/-	delins		2.8E-05	7
rs886040738	BRCA2	0.851		13	32363188	frameshift variant	G/-	delins			7
rs11571658	BRCA2	0.851	0.240	13	32340630	frameshift variant	TT/-	del		2.8E-05	6
rs80359030	BRCA2	0.851		13	32363189	stop gained	G/A;T	snv	4.0E-06		6
rs80359351	BRCA2	0.851	0.200	13	32337161	frameshift variant	ACAA/-	delins		2.1E-05	6
rs276174859	BRCA2	0.851	0.280	13	32339964	stop gained	TC/AG	mnv			5
rs28897759	BRCA2	0.851	0.200	13	32394803	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		5
rs398122729	BRCA2	0.851	0.240	13	32333120	stop gained	C/T	snv			5
rs41293477	BRCA2	0.851	0.200	13	32337513	stop gained	T/G	snv		7.0E-06	5
rs41293489	BRCA2	0.851	0.240	13	32338566	stop gained	C/A;G;T	snv	1.3E-05		5
rs587781629	BRCA2	0.851	0.200	13	32333388	splice donor variant	G/A	snv			5
rs587781803	BRCA2	0.851	0.200	13	32341169	frameshift variant	AAGAG/-	delins			5
rs80358533	BRCA2	0.851	0.200	13	32337185	stop gained	A/T	snv	8.0E-06	7.0E-06	5