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
rs1057519927	PIK3CA	0.716	0.240	3	179218295	missense variant	A/C;G;T	snv			19
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			25
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			22
rs1555460315	PALB2	1.000	0.080	16	23629673	frameshift variant	GT/-	delins			2
rs1800747	BRCA1	0.882	0.200	17	43063952	splice acceptor variant	C/A;G;T	snv			5
rs397517201	PIK3CA	0.732	0.240	3	179218307	missense variant	A/C;G;T	snv			15
rs786201057	TP53	0.677	0.400	17	7675995	missense variant	G/A;C;T	snv			24
rs80356978	BRCA1	0.827	0.200	17	43092809	stop gained	C/A;T	snv			7
rs80357888	BRCA1	0.882	0.200	17	43094023	frameshift variant	ATTTA/-	delins			5
rs80358044	BRCA1	0.827	0.200	17	43074330	splice donor variant	C/A;G;T	snv			7
rs80358920	BRCA2	0.732	0.400	13	32346841	stop gained	C/G;T	snv			12
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
rs864622401	BRCA2	0.882	0.200	13	32339092	frameshift variant	-/TG	delins			4
rs80356962	BRCA1	0.807	0.200	17	43047666	stop gained	C/G;T	snv	4.0E-06	7.0E-06	8
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06		27
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
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs80357783	NBR2 ; BRCA1	0.851	0.200	17	43124030	frameshift variant	-/T	delins	4.0E-06		6
rs80357382	BRCA1	0.763	0.240	17	43106457	missense variant	T/C	snv	4.0E-06		7
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		48
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		35
rs80358427	BRCA2	0.776	0.280	13	32332877	stop gained	A/T	snv	4.0E-06		10
rs80359584	BRCA2	0.807	0.280	13	32340757	frameshift variant	CTTAA/-	delins	4.2E-06	1.4E-05	8