DisGeNET - a database of gene-disease associations

List of shared variants

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, C2676676

Disease: Malignant neoplasm of ovary

Source: CLINVAR ×

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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
rs587776650	NBN	0.790	0.280	8	89971214	frameshift variant	GTTTT/-	delins		2.0E-04	11
rs80356898	BRCA1	0.752	0.200	17	43093844	stop gained	G/A;C	snv	2.8E-05; 4.0E-06		9
rs55770810	BRCA1	0.763	0.280	17	43063931	missense variant	G/A;T	snv	2.4E-05; 8.0E-06		7
rs80358981	BRCA2	0.827	0.200	13	32356550	stop gained	C/T	snv	2.0E-05	1.4E-05	7
rs587781803	BRCA2	0.851	0.200	13	32341169	frameshift variant	AAGAG/-	delins			5
rs80357669	BRCA1	0.851	0.200	17	43093074	frameshift variant	G/-	delins			5
rs80359477	BRCA2	0.851	0.200	13	32339386	frameshift variant	AA/-;A	delins			5
rs80357233	BRCA1	0.882	0.200	17	43093393	stop gained	G/C;T	snv	4.0E-06		4
rs80357438	NBR2 ; BRCA1	0.851	0.200	17	43124032	stop gained	A/G;T	snv			4
rs80357828	BRCA1	0.882	0.200	17	43092155	frameshift variant	GA/-	delins			3