DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Source: INFERRED ×

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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
rs80358785	BRCA2	0.790	0.240	13	32340000	stop gained	C/A;G	snv	1.6E-05		9
rs80356962	BRCA1	0.807	0.200	17	43047666	stop gained	C/G;T	snv	4.0E-06	7.0E-06	8
rs45580035	BRCA2	0.790	0.240	13	32380043	missense variant	C/T	snv	1.2E-05		8
rs80359550	BRCA2	0.807	0.280	13	32340301	frameshift variant	T/-	del		1.8E-04	8
rs80359584	BRCA2	0.807	0.280	13	32340757	frameshift variant	CTTAA/-	delins	4.2E-06	1.4E-05	8
rs80359601	BRCA2	0.807	0.360	13	32340890	frameshift variant	-/A;NNNNNNNN	ins	4.1E-06		8
rs118203998	PALB2	0.790	0.400	16	23603471	stop gained	G/C;T	snv	1.6E-05; 4.0E-06		8
rs180177132	PALB2	0.790	0.280	16	23621362	stop gained	C/T	snv	6.0E-05	2.1E-05	8
rs55770810	BRCA1	0.763	0.280	17	43063931	missense variant	G/A;T	snv	2.4E-05; 8.0E-06		7
rs80356978	BRCA1	0.827	0.200	17	43092809	stop gained	C/A;T	snv			7
rs80357123	BRCA1	0.827	0.200	17	43057078	stop gained	G/A;C;T	snv	1.2E-05		7
rs80357382	BRCA1	0.763	0.240	17	43106457	missense variant	T/C	snv	4.0E-06		7
rs80357906	BRCA1	0.827	0.200	17	43057062	frameshift variant	-/G	delins	1.8E-04		7
rs80358044	BRCA1	0.827	0.200	17	43074330	splice donor variant	C/A;G;T	snv			7
rs80357914	BRCA1 ; NBR2	0.827	0.200	17	43124028	frameshift variant	CT/-;CTCT	delins			7
rs397507419	BRCA2	0.807	0.200	13	32379886	frameshift variant	AAAA/-;AAA;AAAAA	delins	4.0E-06		7
rs80358981	BRCA2	0.827	0.200	13	32356550	stop gained	C/T	snv	2.0E-05	1.4E-05	7
rs80359636	BRCA2	0.851	0.240	13	32354921	frameshift variant	CT/-	delins		2.8E-05	7
rs587780174	CHEK2	0.827	0.360	22	28695239	frameshift variant	A/-	delins	4.4E-05	5.6E-05	7
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		7
rs41293455	BRCA1	0.827	0.200	17	43082434	stop gained	G/A;C	snv	2.4E-05; 3.2E-05		6
rs41293465	BRCA1	0.851	0.200	17	43045767	stop gained	G/A	snv	1.2E-05		6
rs62625307	BRCA1	0.827	0.200	17	43091933	stop gained	G/A	snv	4.0E-06		6
rs62625308	BRCA1	0.851	0.200	17	43091924	stop gained	G/A;C	snv	1.2E-05		6
rs80356885	BRCA1	0.827	0.200	17	43074482	stop gained	C/T	snv			6