DisGeNET - a database of gene-disease associations

List of shared variants

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Disease: Neoplastic Syndromes, Hereditary

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
rs730881364	ATM	1.000	0.200	11	108284226	splice acceptor variant	G/A;C	snv			2
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
rs587780021	BARD1	0.851	0.200	2	214745842	stop gained	G/A	snv	2.4E-05	2.8E-05	6
rs587780024	BARD1	0.925	0.200	2	214730458	stop gained	CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC	delins			3
rs587781948	BARD1	0.882	0.200	2	214730491	stop gained	G/A	snv	1.6E-05	3.5E-05	5
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
rs1060505048	BRCA1	0.925	0.200	17	43045736	frameshift variant	T/-	del			3
rs1064793054	BRCA1	1.000	0.200	17	43104172	stop gained	TGT/AGA	mnv			2
rs1064793577	BRCA1	0.925	0.200	17	43076580	frameshift variant	A/-	del			3
rs1135401857	BRCA1	0.925	0.200	17	43092469	frameshift variant	C/-	del			3
rs1135401868	BRCA1	0.925	0.200	17	43091698	frameshift variant	T/-	delins			3
rs1555579633	BRCA1	1.000	0.200	17	43067623	frameshift variant	C/-	del			2
rs1555580840	BRCA1	0.925	0.200	17	43071079	frameshift variant	TG/-	del			3
rs1555580854	BRCA1	1.000	0.200	17	43071085	frameshift variant	-/A	delins			2
rs1555589513	BRCA1	1.000	0.200	17	43093026	frameshift variant	-/T	delins			2
rs1800747	BRCA1	0.882	0.200	17	43063952	splice acceptor variant	C/A;G;T	snv			5
rs200432771	BRCA1	0.925	0.200	17	43071011	stop gained	C/A;G;T	snv	4.0E-06		3
rs273897659	BRCA1	0.925	0.200	17	43094141	frameshift variant	TT/C	delins			3
rs273898674	BRCA1	0.925	0.200	17	43093472	stop gained	G/A	snv			4
rs273899695	BRCA1	0.925	0.200	17	43104263	splice acceptor variant	T/-	del		7.0E-06	3
rs273900724	BRCA1	0.925	0.200	17	43090922	splice donor variant	CACACACACACACGCTTTTTA/T	delins			3
rs273900730	BRCA1	0.882	0.200	17	43076579	frameshift variant	TAG/AA	delins			4
rs273900736	BRCA1	0.925	0.200	17	43074490	frameshift variant	C/-	del			3