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
rs1799944	BRCA2	0.882	0.080	13	32337326	missense variant	A/G	snv	5.4E-02	4.5E-02	5
rs4987117	BRCA2	0.925	0.080	13	32340099	missense variant	C/T	snv	1.8E-02	1.8E-02	4
rs80358702	BRCA2	0.882	0.080	13	32326150	missense variant	G/A;C	snv			4
rs80358732	BRCA2	0.925	0.080	13	32339451	missense variant	A/G	snv	2.2E-05	2.1E-05	4
rs886040340	BRCA2	0.882	0.080	13	32319111	frameshift variant	-/C	delins			4
rs15869	BRCA2	0.925	0.080	13	32398875	3 prime UTR variant	A/C	snv		0.15	3
rs1799955	BRCA2	0.925	0.080	13	32355095	synonymous variant	A/G;T	snv	0.23; 8.0E-06		3
rs41293475	BRCA2	0.882	0.080	13	32332629	missense variant	C/G;T	snv	7.6E-04		3
rs80359379	BRCA2	0.882	0.080	13	32337615	frameshift variant	CC/-;C;CCC	delins			3
rs876659602	BRCA2	0.882	0.080	13	32337468	missense variant	A/G	snv			3
rs1057520611	BRCA2	0.925	0.080	13	32356462	missense variant	A/G	snv			2
rs11571653	BRCA2	0.925	0.080	13	32336705	missense variant	A/G	snv	2.3E-04	1.7E-04	2
rs1334767632	BRCA2	0.925	0.080	13	32332437	missense variant	T/C	snv		7.0E-06	2
rs1555283031	BRCA2	0.925	0.080	13	32337423	frameshift variant	ACAT/-	del			2
rs1801439	BRCA2	0.925	0.080	13	32332843	synonymous variant	A/G	snv	5.2E-02	3.8E-02	2
rs206340	BRCA2	0.925	0.080	13	32391173	intron variant	G/A	snv		0.21	2
rs397507293	BRCA2	0.925	0.080	13	32337113	missense variant	C/A;T	snv	4.0E-06; 4.0E-06		2
rs397507990	BRCA2	0.925	0.080	13	32370999	frameshift variant	AA/-;AAA	delins			2
rs4942440	BRCA2	0.925	0.080	13	32344830	intron variant	G/A	snv		0.21	2
rs786201704	BRCA2	0.925	0.080	13	32338618	missense variant	T/C;G	snv			2
rs80358462	BRCA2	0.925	0.080	13	32333271	missense variant	C/T	snv	4.1E-06; 4.1E-06	2.8E-05	2
rs80358527	BRCA2	0.925	0.080	13	32316486	missense variant	C/A;G;T	snv	8.0E-06		2
rs80358572	BRCA2	0.925	0.080	13	32337617	missense variant	C/G;T	snv	4.3E-06; 4.3E-05		2
rs80358621	BRCA2	0.925	0.080	13	32325138	missense variant	G/A;T	snv			2
rs80358755	BRCA2	0.925	0.080	13	32339667	missense variant	G/A;T	snv	3.4E-04; 4.0E-06		2