DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: ovarian neoplasm ×

Variants associated to the Gene: BRCA2 ×

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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
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs11571818	BRCA2	0.708	0.280	13	32394673	intron variant	T/C	snv	6.6E-03	6.0E-03	17
rs41293497	BRCA2	0.724	0.440	13	32340037	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		14
rs80358721	BRCA2	0.724	0.320	13	32339320	stop gained	C/A;G;R	snv	4.2E-06		14
rs80358920	BRCA2	0.732	0.400	13	32346841	stop gained	C/G;T	snv			14
rs80358785	BRCA2	0.790	0.240	13	32340000	stop gained	C/A;G	snv	1.6E-05		9
rs80359550	BRCA2	0.807	0.280	13	32340301	frameshift variant	T/-	del		1.8E-04	8
rs397507419	BRCA2	0.807	0.200	13	32379886	frameshift variant	AAAA/-;AAA;AAAAA	delins	4.0E-06		7
rs80359596	BRCA2	0.827	0.240	13	32340817	frameshift variant	TCTC/-;TC;TCTCTC	delins			6
rs80358533	BRCA2	0.851	0.200	13	32337185	stop gained	A/T	snv	8.0E-06	7.0E-06	5
rs80359027	BRCA2	0.851	0.200	13	32362693	missense variant	G/A;C	snv	4.0E-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
rs81002836	BRCA2	0.851	0.200	13	32362521	splice acceptor variant	A/G;T	snv			5
rs276174868	BRCA2	0.882	0.200	13	32340622	frameshift variant	GCA/C	delins	4.1E-06		4
rs397507591	BRCA2	0.882	0.200	13	32332975	frameshift variant	G/-	delins			4
rs587781506	BRCA2	0.882	0.200	13	32362594	stop gained	G/A	snv			4
rs80359277	BRCA2	0.882	0.200	13	32332779	frameshift variant	AAGAAAGA/-;AAGA	delins	4.1E-06	3.5E-05	4
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
rs80359507	BRCA2	0.882	0.200	13	32339700	frameshift variant	AAA/-;A;AA;AAAA;AAAAA	delins		2.8E-05	4
rs80359567	BRCA2	0.882	0.200	13	32340570	frameshift variant	C/-	delins			4
rs80359752	BRCA2	0.882	0.200	13	32380136	frameshift variant	A/-;AA	delins			4
rs80359772	BRCA2	0.882	0.200	13	32398179	frameshift variant	T/-	del	4.0E-06		4