DisGeNET - a database of gene-disease associations

List of associated variants

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

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	Chr	Position	Consequence	Alleles	Class	Num. diseases
rs1057517595	BRCA2	1.000	13	32339841	frameshift variant	GT/-	delins	1
rs1057517636	BRCA2	1.000	13	32338829	stop gained	A/T	snv	1
rs1057517865	BRCA2	1.000	13	32371025	stop gained	A/T	snv	1
rs1057520636	BRCA2	1.000	13	32338581	stop gained	T/A	snv	1
rs1060499566	BRCA2	1.000	13	32316421	splice acceptor variant	G/A	snv	1
rs1060499833	BRCA2	1.000	13	32339338	stop gained	T/G	snv	1
rs1060502466	BRCA2	1.000	13	32336837	missense variant	T/C	snv	1
rs1064793061	BRCA2	1.000	13	32319230	frameshift variant	T/-	del	1
rs1064793063	BRCA2	1.000	13	32337130	frameshift variant	T/-	del	1
rs1064793064	BRCA2	1.000	13	32338000	frameshift variant	GTT/TA	delins	1
rs1064793067	BRCA2	1.000	13	32355017	frameshift variant	AGAAA/-	delins	1
rs1064793413	BRCA2	1.000	13	32338903	frameshift variant	CA/-	del	1
rs1064793467	BRCA2	1.000	13	32336691	frameshift variant	T/-	del	1
rs1064793572	BRCA2	1.000	13	32332796	frameshift variant	ACTT/-	delins	1
rs1064793627	BRCA2	1.000	13	32336545	frameshift variant	AAGAG/-	delins	1
rs1064793898	BRCA2	1.000	13	32333309	frameshift variant	TCAGAACTAATT/ATCAG	delins	1
rs1064794059	BRCA2	1.000	13	32319171	frameshift variant	C/-	del	1
rs1064794115	BRCA2	1.000	13	32325107	frameshift variant	CT/-	delins	1
rs1064794377	BRCA2	1.000	13	32339264	frameshift variant	G/-	del	1
rs1064794521	BRCA2	1.000	13	32357753	stop gained	T/A	snv	1
rs1064794550	BRCA2	1.000	13	32337387	frameshift variant	C/-	del	1
rs1064794821	BRCA2	1.000	13	32337415	frameshift variant	TG/-	del	1
rs1064795043	BRCA2	1.000	13	32319275	frameshift variant	GC/-	delins	1
rs1064795072	BRCA2	1.000	13	32316474	frameshift variant	C/-	delins	1
rs1064795172	BRCA2	1.000	13	32346875	frameshift variant	CGATT/-	del	1