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
rs28904921	C11orf65 ; ATM	0.763	0.320	11	108329202	missense variant	T/G	snv	4.0E-05	6.3E-05	7
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			25
rs1057519927	PIK3CA	0.716	0.240	3	179218295	missense variant	A/C;G;T	snv			19
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		35
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			22
rs397517201	PIK3CA	0.732	0.240	3	179218307	missense variant	A/C;G;T	snv			15
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		48
rs876659036	PALB2	1.000	0.080	16	23622997	stop gained	C/A;G	snv	8.0E-06; 8.0E-06		3
rs1555460315	PALB2	1.000	0.080	16	23629673	frameshift variant	GT/-	delins			2
rs587776416	PALB2	0.882	0.240	16	23629986	frameshift variant	AT/-	del	6.4E-05	2.1E-05	5
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
rs80358427	BRCA2	0.776	0.280	13	32332877	stop gained	A/T	snv	4.0E-06		10
rs80359351	BRCA2	0.851	0.200	13	32337161	frameshift variant	ACAA/-	delins		2.1E-05	6
rs864622401	BRCA2	0.882	0.200	13	32339092	frameshift variant	-/TG	delins			4
rs80358785	BRCA2	0.790	0.240	13	32340000	stop gained	C/A;G	snv	1.6E-05		9
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
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
rs41293465	BRCA1	0.851	0.200	17	43045767	stop gained	G/A	snv	1.2E-05		6
rs80356962	BRCA1	0.807	0.200	17	43047666	stop gained	C/G;T	snv	4.0E-06	7.0E-06	8
rs80357906	BRCA1	0.827	0.200	17	43057062	frameshift variant	-/G	delins	1.8E-04		7