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
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs41293497	BRCA2	0.724	0.440	13	32340037	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		14
rs80358920	BRCA2	0.732	0.400	13	32346841	stop gained	C/G;T	snv			12
rs80359200	BRCA2	0.752	0.320	13	32394726	stop gained	C/A;G	snv	8.0E-06		12
rs80359473	BRCA2	0.807	0.400	13	32339288	frameshift variant	GAAA/-	delins			12
rs28897756	BRCA2	0.752	0.440	13	32379913	splice region variant	G/A;C;T	snv	4.0E-06		11
rs80358435	BRCA2	0.752	0.440	13	32319154	stop gained	G/C;T	snv	4.0E-06; 4.0E-06		11
rs80358721	BRCA2	0.724	0.320	13	32339320	stop gained	C/A;G;R	snv	4.2E-06		11
rs80358814	BRCA2	0.742	0.440	13	32340212	stop gained	G/T	snv	8.0E-06		11
rs80358972	BRCA2	0.742	0.480	13	32356472	stop gained	C/A;T	snv	8.0E-06; 3.2E-05		11
rs80359212	BRCA2	0.763	0.320	13	32394814	stop gained	C/T	snv	1.2E-05	4.2E-05	11
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
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
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	10
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		9
rs80356898	BRCA1	0.752	0.200	17	43093844	stop gained	G/A;C	snv	2.8E-05; 4.0E-06		9
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