DisGeNET - a database of gene-disease associations

List of shared variants

Mammary Neoplasms, C1458155

Disease: Malignant neoplasm of breast

Source: CURATED ×

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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
rs1800747	BRCA1	0.882	0.200	17	43063952	splice acceptor variant	C/A;G;T	snv			5
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		10
rs28897696	BRCA1	0.807	0.200	17	43063903	missense variant	G/A;C;T	snv	2.8E-05; 4.0E-06; 2.0E-05		5
rs41293465	BRCA1	0.851	0.200	17	43045767	stop gained	G/A	snv	1.2E-05		6
rs62625308	BRCA1	0.851	0.200	17	43091924	stop gained	G/A;C	snv	1.2E-05		6
rs80356923	BRCA1	0.882	0.200	17	43091891	stop gained	C/A;T	snv	9.9E-05		5
rs80356962	BRCA1	0.807	0.200	17	43047666	stop gained	C/G;T	snv	4.0E-06	7.0E-06	8
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
rs80357888	BRCA1	0.882	0.200	17	43094023	frameshift variant	ATTTA/-	delins			5
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
rs80358427	BRCA2	0.776	0.280	13	32332877	stop gained	A/T	snv	4.0E-06		10
rs80358785	BRCA2	0.790	0.240	13	32340000	stop gained	C/A;G	snv	1.6E-05		9
rs80358920	BRCA2	0.732	0.400	13	32346841	stop gained	C/G;T	snv			12
rs80358981	BRCA2	0.827	0.200	13	32356550	stop gained	C/T	snv	2.0E-05	1.4E-05	7
rs80359212	BRCA2	0.763	0.320	13	32394814	stop gained	C/T	snv	1.2E-05	4.2E-05	11
rs80359351	BRCA2	0.851	0.200	13	32337161	frameshift variant	ACAA/-	delins		2.1E-05	6
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
rs864622401	BRCA2	0.882	0.200	13	32339092	frameshift variant	-/TG	delins			4
rs28904921	C11orf65 ; ATM	0.763	0.320	11	108329202	missense variant	T/G	snv	4.0E-05	6.3E-05	7
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	10
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33