DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Source: CLINVAR ×

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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
rs80359212	BRCA2	0.763	0.320	13	32394814	stop gained	C/T	snv	1.2E-05	4.2E-05	11
rs397507404	BRCA2	0.763	0.320	13	32370955	splice acceptor variant	G/A;T	snv			10
rs41293511	BRCA2	0.763	0.320	13	32363369	missense variant	G/A;C	snv		7.0E-06	10
rs80358391	BRCA2	0.763	0.320	13	32319109	stop gained	G/A;T	snv	4.0E-06		10
rs80358557	BRCA2	0.763	0.320	13	32337464	stop gained	C/A;T	snv	4.0E-06; 4.0E-06		10
rs80358893	BRCA2	0.763	0.320	13	32341011	stop gained	C/G	snv			10
rs80359014	BRCA2	0.763	0.320	13	32362596	missense variant	A/G;T	snv			10
rs80359031	BRCA2	0.763	0.320	13	32363190	missense variant	A/T	snv			10
rs80359604	BRCA2	0.763	0.320	13	32329468	frameshift variant	GT/-	delins			10
rs397508045	BRCA2	0.763	0.320	13	32319101	stop gained	G/A;T	snv	4.0E-06; 4.0E-06		9
rs80358785	BRCA2	0.790	0.240	13	32340000	stop gained	C/A;G	snv	1.6E-05		9
rs45580035	BRCA2	0.790	0.240	13	32380043	missense variant	C/T	snv	1.2E-05		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
rs80358981	BRCA2	0.827	0.200	13	32356550	stop gained	C/T	snv	2.0E-05	1.4E-05	7
rs80359636	BRCA2	0.851	0.240	13	32354921	frameshift variant	CT/-	delins		2.8E-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
rs80359351	BRCA2	0.851	0.200	13	32337161	frameshift variant	ACAA/-	delins		2.1E-05	6
rs80359541	BRCA2	0.882	0.200	13	32340183	frameshift variant	C/-	del	8.0E-06		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
rs11571658	BRCA2	0.851	0.240	13	32340630	frameshift variant	TT/-	del		2.8E-05	5