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
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
rs767454740	NBN	0.882	0.320	8	89982736	frameshift variant	AA/-	delins		7.0E-06	4
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
rs786202801	MRE11	1.000	0.200	11	94429909	splice donor variant	A/T	snv	1.2E-05	7.0E-06	2
rs1060502376	BRCA2	1.000	0.200	13	32319076	splice acceptor variant	G/A;C;T	snv			2
rs1060502433	BRCA2	0.925	0.200	13	32357846	stop gained	G/A;T	snv			3
rs1060502449	BRCA2	0.925	0.200	13	32337461	stop gained	G/A;T	snv			3
rs1060502454	BRCA2	0.925	0.200	13	32332437	frameshift variant	T/-	del			3
rs1060502471	BRCA2	0.925	0.200	13	32371074	frameshift variant	T/-	delins			3
rs1060502478	BRCA2	0.925	0.200	13	32362536	frameshift variant	A/-	del			3
rs1060502484	BRCA2	0.925	0.200	13	32336587	frameshift variant	A/-	delins			3
rs1064794018	BRCA2	1.000	0.200	13	32332968	stop gained	C/G;T	snv			2
rs1064794337	BRCA2	0.925	0.200	13	32338774	frameshift variant	C/-	del			3
rs1064794647	BRCA2	0.925	0.200	13	32340618	frameshift variant	C/-	del			3
rs1064794708	BRCA2	0.925	0.200	13	32339029	frameshift variant	T/-	delins			3
rs1131692274	BRCA2	0.925	0.200	13	32333214	stop gained	T/G	snv			3
rs1135401914	BRCA2	0.925	0.200	13	32340846	frameshift variant	A/-	del			3
rs1135401919	BRCA2	0.925	0.200	13	32357916	stop gained	G/T	snv			3
rs1135401927	BRCA2	0.882	0.200	13	32376691	frameshift variant	-/A	delins			4