DisGeNET - a database of gene-disease associations

List of shared variants

ovarian neoplasm, C0919267

Disease: Neoplastic Syndromes, Hereditary

Source: INFERRED ×

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
rs587779834	ATM	0.925	0.320	11	108284281	frameshift variant	G/-	delins		4.2E-05	3
rs587781894	ATM ; C11orf65	0.882	0.360	11	108365360	missense variant	G/A;C	snv	8.0E-06	7.0E-06	3
rs587781742	RAD50	1.000	0.120	5	132594868	splice acceptor variant	G/A;T	snv	4.0E-06; 8.0E-06		2
rs515726117	PALB2	0.925	0.160	16	23603658	frameshift variant	C/-	delins	4.0E-06		3
rs876659463	PALB2	1.000	0.120	16	23621357	splice region variant	C/G	snv		7.0E-06	2
rs876658170	PALB2	1.000	0.120	16	23629857	frameshift variant	AG/-	delins			2
rs515726060	PALB2	0.925	0.160	16	23635493	frameshift variant	TTTG/-	delins		7.0E-06	3
rs180177092	PALB2	0.851	0.280	16	23635788	frameshift variant	AG/-	delins			5
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs761494650	CHEK2	0.925	0.160	22	28734637	stop gained	G/A	snv	4.0E-06; 8.0E-06		3
rs80359277	BRCA2	0.882	0.200	13	32332779	frameshift variant	AAGAAAGA/-;AAGA	delins	4.1E-06	3.5E-05	4
rs397507591	BRCA2	0.882	0.200	13	32332975	frameshift variant	G/-	delins			4
rs80358533	BRCA2	0.851	0.200	13	32337185	stop gained	A/T	snv	8.0E-06	7.0E-06	5
rs80359380	BRCA2	0.851	0.200	13	32337618	frameshift variant	-/T;TT	delins			5
rs80359405	BRCA2	0.851	0.200	13	32338201	frameshift variant	GT/-	delins			5
rs80359439	BRCA2	0.882	0.200	13	32338634	frameshift variant	T/-;TT	delins			4
rs80359448	BRCA2	0.882	0.200	13	32338804	frameshift variant	A/-	del			4
rs80358721	BRCA2	0.724	0.320	13	32339320	stop gained	C/A;G;R	snv	4.2E-06		11
rs80359507	BRCA2	0.882	0.200	13	32339700	frameshift variant	AAA/-;A;AA;AAAA;AAAAA	delins		2.8E-05	4
rs786203853	BRCA2	0.925	0.120	13	32339850	frameshift variant	-/T	delins			3
rs80358785	BRCA2	0.790	0.240	13	32340000	stop gained	C/A;G	snv	1.6E-05		9
rs41293497	BRCA2	0.724	0.440	13	32340037	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		14
rs80359550	BRCA2	0.807	0.280	13	32340301	frameshift variant	T/-	del		1.8E-04	8
rs80359567	BRCA2	0.882	0.200	13	32340570	frameshift variant	C/-	delins			4
rs276174868	BRCA2	0.882	0.200	13	32340622	frameshift variant	GCA/C	delins	4.1E-06		4