DisGeNET - a database of gene-disease associations

List of shared variants

Neoplastic Syndromes, Hereditary, C0027672

Disease: Malignant neoplasm of breast

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
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06		27
rs786201057	TP53	0.677	0.400	17	7675995	missense variant	G/A;C;T	snv			24
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		16
rs41293497	BRCA2	0.724	0.440	13	32340037	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		14
rs79658334	RET	0.662	0.360	10	43119548	missense variant	G/A;C;T	snv	1.2E-04; 4.3E-06		14
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			13
rs1131691003	TP53	0.752	0.360	17	7676381	splice donor variant	C/A;G	snv			12
rs1131691042	TP53	0.752	0.360	17	7675052	splice donor variant	C/T	snv			12
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		12
rs80358920	BRCA2	0.732	0.400	13	32346841	stop gained	C/G;T	snv			12
rs80359200	BRCA2	0.752	0.320	13	32394726	stop gained	C/A;G	snv	8.0E-06		12
rs28897756	BRCA2	0.752	0.440	13	32379913	splice region variant	G/A;C;T	snv	4.0E-06		11
rs587776650	NBN	0.790	0.280	8	89971214	frameshift variant	GTTTT/-	delins		2.0E-04	11
rs80358435	BRCA2	0.752	0.440	13	32319154	stop gained	G/C;T	snv	4.0E-06; 4.0E-06		11
rs80358721	BRCA2	0.724	0.320	13	32339320	stop gained	C/A;G;R	snv	4.2E-06		11
rs80358814	BRCA2	0.742	0.440	13	32340212	stop gained	G/T	snv	8.0E-06		11
rs80358972	BRCA2	0.742	0.480	13	32356472	stop gained	C/A;T	snv	8.0E-06; 3.2E-05		11
rs80359212	BRCA2	0.763	0.320	13	32394814	stop gained	C/T	snv	1.2E-05	4.2E-05	11
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	10
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	10
rs397507404	BRCA2	0.763	0.320	13	32370955	splice acceptor variant	G/A;T	snv			10