DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Source: ALL

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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
rs1553938364	ABRAXAS1	1.000	0.200	4	83485026	frameshift variant	AGCACAAAGCCCGAGAGCACCG/-	delins			1
rs202160435	ATM	0.925	0.240	11	108247072	missense variant	G/A	snv	8.0E-05	6.3E-05	2
rs730881364	ATM	1.000	0.200	11	108284226	splice acceptor variant	G/A;C	snv			2
rs1057519364	ATM	1.000	0.200	11	108253839	stop gained	G/T	snv			1
rs770641163	ATM ; C11orf65	0.882	0.360	11	108365208	stop gained	C/G;T	snv	4.0E-06; 1.2E-05		4
rs778031266	ATM ; C11orf65	0.882	0.360	11	108316114	splice donor variant	G/A	snv	4.0E-06		4
rs1555124587	ATM ; C11orf65	1.000	0.200	11	108331957	stop gained	G/T	snv			1
rs376824528	ATM ; C11orf65	1.000	0.200	11	108332789	missense variant	A/G	snv	1.6E-05	4.2E-05	1
rs587780021	BARD1	0.851	0.200	2	214745842	stop gained	G/A	snv	2.4E-05	2.8E-05	6
rs587781948	BARD1	0.882	0.200	2	214730491	stop gained	G/A	snv	1.6E-05	3.5E-05	5
rs587780024	BARD1	0.925	0.200	2	214730458	stop gained	CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC	delins			3
rs796666047	BARD1	0.925	0.200	2	214780669	stop gained	G/C;T	snv	8.0E-06		3
rs879254139	BARD1	0.925	0.200	2	214797118	splice acceptor variant	C/A;T	snv			3
rs977584514	BARD1	1.000	0.200	2	214728813	missense variant	A/G	snv			1
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		16
rs41293459	BRCA1	0.763	0.280	17	43063930	missense variant	C/A;G;T	snv	2.4E-05		12
rs28897696	BRCA1	0.807	0.200	17	43063903	missense variant	G/A;C;T	snv	2.8E-05; 4.0E-06; 2.0E-05		11
rs80356898	BRCA1	0.752	0.200	17	43093844	stop gained	G/A;C	snv	2.8E-05; 4.0E-06		11
rs80357382	BRCA1	0.763	0.240	17	43106457	missense variant	T/C	snv	4.0E-06		11
rs55770810	BRCA1	0.763	0.280	17	43063931	missense variant	G/A;T	snv	2.4E-05; 8.0E-06		10
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs397508986	BRCA1	0.807	0.280	17	43092919	frameshift variant	G/AA	delins			9
rs41293463	BRCA1	0.790	0.280	17	43051071	missense variant	A/C;T	snv	1.2E-05		9
rs80356952	BRCA1	0.790	0.200	17	43093901	stop gained	G/A	snv			9
rs62625307	BRCA1	0.827	0.200	17	43091933	stop gained	G/A	snv	4.0E-06		8