DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Breast Carcinoma ×

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
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs206340	BRCA2	0.925	0.080	13	32391173	intron variant	G/A	snv		0.21	2
rs4942440	BRCA2	0.925	0.080	13	32344830	intron variant	G/A	snv		0.21	2
rs15869	BRCA2	0.925	0.080	13	32398875	3 prime UTR variant	A/C	snv		0.15	3
rs1799944	BRCA2	0.882	0.080	13	32337326	missense variant	A/G	snv	5.4E-02	4.5E-02	5
rs1801439	BRCA2	0.925	0.080	13	32332843	synonymous variant	A/G	snv	5.2E-02	3.8E-02	2
rs1801426	BRCA2	0.882	0.120	13	32398747	missense variant	A/G	snv	2.3E-02	3.8E-02	3
rs4987117	BRCA2	0.925	0.080	13	32340099	missense variant	C/T	snv	1.8E-02	1.8E-02	4
rs11571707	BRCA2	0.851	0.200	13	32356461	missense variant	T/C	snv	1.9E-02	8.5E-03	7
rs11571818	BRCA2	0.708	0.280	13	32394673	intron variant	T/C	snv	6.6E-03	6.0E-03	17
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs11571653	BRCA2	0.925	0.080	13	32336705	missense variant	A/G	snv	2.3E-04	1.7E-04	2
rs80358978	BRCA2	0.925	0.080	13	32356514	missense variant	G/A	snv	1.6E-04	3.5E-05	2
rs80358462	BRCA2	0.925	0.080	13	32333271	missense variant	C/T	snv	4.1E-06; 4.1E-06	2.8E-05	2
rs80359078	BRCA2	0.882	0.160	13	32370430	missense variant	G/A	snv	3.2E-05	2.1E-05	3
rs80358732	BRCA2	0.925	0.080	13	32339451	missense variant	A/G	snv	2.2E-05	2.1E-05	4
rs1334767632	BRCA2	0.925	0.080	13	32332437	missense variant	T/C	snv		7.0E-06	2
rs41293477	BRCA2	0.851	0.200	13	32337513	stop gained	T/G	snv		7.0E-06	5
rs41293497	BRCA2	0.724	0.440	13	32340037	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		14
rs80358807	BRCA2	0.763	0.280	13	32340146	stop gained	C/T	snv			10
rs28897743	BRCA2	0.827	0.280	13	32346896	missense variant	G/A;C;T	snv	4.0E-06		8
rs397507758	BRCA2	0.807	0.200	13	32339456	stop gained	C/T	snv			6
rs80358829	BRCA2	0.827	0.120	13	32340327	missense variant	C/T	snv			6
rs80359306	BRCA2	0.827	0.280	13	32333284	frameshift variant	A/-;AA	delins			6
rs28897759	BRCA2	0.851	0.200	13	32394803	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		5