DisGeNET - a database of gene-disease associations

List of associated variants

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, C2675520

Source: ALL

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
rs397507950	BRCA2	1.000		13	32363178	coding sequence variant	TGATA/-	delins			1
rs886040953	BRCA2	1.000		13	32394685	coding sequence variant	-/AGGACTT	delins			1
rs80359736	BRCA2	1.000		13	32379769	inframe deletion	CATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTC/-	delins			2
rs1555288443	BRCA2	1.000		13	32379768	inframe deletion	GTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA/-	del			1
rs80359414	BRCA2	1.000		13	32338256	inframe deletion	ACT/-	delins			1
rs80359682	BRCA2	1.000		13	32357914	inframe deletion	GAA/-	delins			1
rs80359698	BRCA2	1.000		13	32363428	inframe deletion	CAGACTGACAGTTGG/-	delins			1
rs80358547	BRCA2	0.851	0.200	13	32316462	start lost	T/A;C;G	snv	8.0E-06		5
rs80358650	BRCA2	0.925	0.200	13	32316463	start lost	G/A;T	snv			3
rs28897756	BRCA2	0.752	0.440	13	32379913	splice region variant	G/A;C;T	snv	4.0E-06		11
rs397508007	BRCA2	0.925	0.200	13	32376794	splice region variant	G/A;C;T	snv			3
rs786201180	BRCA2	0.925	0.200	13	32362698	splice region variant	G/A;C;T	snv	4.0E-06		3
rs80359492	BRCA2	0.925	0.200	13	32326498	splice region variant	G/-	delins		1.4E-05	3
rs80359803	BRCA2	0.925	0.200	13	32376791	splice region variant	G/A	snv	4.0E-06		3
rs81002840	BRCA2	0.925	0.200	13	32319330	splice region variant	G/A;C	snv			3
rs81002893	BRCA2	0.925	0.200	13	32376795	splice region variant	A/G;T	snv			3
rs886040949	BRCA2	0.925	0.200	13	32379745	splice region variant	A/G	snv			3
rs276174848	BRCA2	1.000		13	32326154	splice region variant	T/-	del			2
rs397507884	BRCA2	0.925	0.200	13	32329496	splice region variant	A/G;T	snv			2
rs81002813	BRCA2	1.000		13	32376796	splice region variant	G/A;T	snv			2
rs1555288117	BRCA2	1.000		13	32376668	splice region variant	AAAACACAACAAAACCATATTTACCATCACGTGCACTAACAAGACAGCAAGTTCGTGCTTTGCAAGATGGTGCAGAGCTTTATGAAGCAGTGAAGAATGCAGCAGACCCAGCTTACCTTGAG/-	delins			1
rs397507840	BRCA2	1.000		13	32326616	splice region variant	A/G	snv			1
rs397507841	BRCA2	1.000		13	32326617	splice region variant	A/G	snv			1
rs397507946	BRCA2	1.000		13	32362696	splice region variant	AA/-	del			1
rs80359728	BRCA2	1.000		13	32379316	splice region variant	G/-	delins			1