DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant neoplasm of breast ×

Variants associated to the Gene: BRCA2 ×

Results per page

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
rs11571747	BRCA2	1.000	0.080	13	32371035	missense variant	A/C	snv	1.1E-03	1.5E-03	1
rs11571769	BRCA2	1.000	0.080	13	32379413	missense variant	G/A;T	snv	9.5E-03	8.2E-03	1
rs1298550035	BRCA2	1.000	0.080	13	32337673	missense variant	C/G	snv	4.2E-06		1
rs1555281715	BRCA2	1.000	0.080	13	32332537	frameshift variant	A/-	del			1
rs1555287766	BRCA2	1.000	0.080	13	32371015	frameshift variant	G/-	delins			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
rs28897716	BRCA2	1.000	0.080	13	32337158	missense variant	G/A;C;T	snv	6.1E-04; 6.4E-05		1
rs28897744	BRCA2	1.000	0.080	13	32356536	missense variant	C/T	snv	5.8E-04	4.8E-04	1
rs28897751	BRCA2	1.000	0.080	13	32370445	missense variant	T/C;G	snv			1
rs28897754	BRCA2	1.000	0.080	13	32379412	missense variant	G/A;T	snv	2.8E-05; 7.4E-04		1
rs28897755	BRCA2	1.000	0.080	13	32379834	missense variant	C/T	snv	2.5E-04	2.2E-04	1
rs370252983	BRCA2	1.000	0.080	13	32339766	missense variant	T/C	snv	3.2E-05	7.0E-06	1
rs397507595	BRCA2	1.000	0.080	13	32319167	missense variant	A/G	snv			1
rs397507615	BRCA2	1.000	0.080	13	32319200	missense variant	C/T	snv	4.0E-06		1
rs397507620	BRCA2	1.000	0.080	13	32336542	missense variant	A/G	snv			1
rs397507674	BRCA2	1.000	0.080	13	32337891	missense variant	G/A	snv	4.0E-06		1
rs397507770	BRCA2	1.000	0.080	13	32339543	missense variant	A/T	snv	8.2E-06		1
rs397507795	BRCA2	1.000	0.080	13	32340015	missense variant	C/G;T	snv	2.4E-05		1
rs397507822	BRCA2	1.000	0.080	13	32326584	missense variant	C/G;T	snv			1
rs397507838	BRCA2	1.000	0.080	13	32340636	missense variant	A/C;G	snv	8.2E-06	7.0E-06	1
rs397507847	BRCA2	1.000	0.080	13	32340739	missense variant	A/C;G	snv			1
rs397507873	BRCA2	1.000	0.080	13	32329475	missense variant	C/T	snv			1
rs397507875	BRCA2	1.000	0.080	13	32341020	missense variant	A/G	snv	1.6E-05		1
rs397508057	BRCA2	1.000	0.080	13	32319103	missense variant	T/C	snv			1