DisGeNET - a database of gene-disease associations

Source: ALL

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
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
rs11571769	BRCA2	1.000	0.080	13	32379413	missense variant	G/A;T	snv	9.5E-03	8.2E-03	1
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs4987046	BRCA2	0.925	0.160	13	32319134	missense variant	A/G	snv	1.6E-03	1.6E-03	4
rs11571747	BRCA2	1.000	0.080	13	32371035	missense variant	A/C	snv	1.1E-03	1.5E-03	1
rs55712212	BRCA2	1.000	0.080	13	32341176	missense variant	G/A;T	snv	1.5E-03	1.2E-03	1
rs55716624	BRCA2	1.000	0.080	13	32356496	missense variant	C/A;T	snv	2.7E-04	9.8E-04	1
rs28897706	BRCA2	1.000	0.080	13	32332456	missense variant	C/A;G;T	snv	8.1E-04	8.1E-04	1
rs28897708	BRCA2	1.000	0.080	13	32332992	missense variant	T/C	snv	8.0E-04	7.3E-04	1
rs28897744	BRCA2	1.000	0.080	13	32356536	missense variant	C/T	snv	5.8E-04	4.8E-04	1
rs79538375	BRCA2	1.000	0.080	13	32340140	missense variant	A/G	snv	8.9E-04	3.1E-04	1
rs41293521	BRCA2	0.925	0.160	13	32394724	missense variant	T/C	snv	2.9E-04	2.5E-04	2
rs56087561	BRCA2	1.000	0.080	13	32339425	missense variant	A/C	snv	2.2E-04	2.2E-04	1
rs28897755	BRCA2	1.000	0.080	13	32379834	missense variant	C/T	snv	2.5E-04	2.2E-04	1
rs56403624	BRCA2	1.000	0.080	13	32332863	missense variant	A/G;T	snv	2.5E-04	2.0E-04	1
rs80359550	BRCA2	0.807	0.280	13	32340301	frameshift variant	T/-	del		1.8E-04	8
rs11571653	BRCA2	0.925	0.080	13	32336705	missense variant	A/G	snv	2.3E-04	1.7E-04	2