DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of breast, C0006142

Disease: Hereditary Breast and Ovarian Cancer Syndrome

Source: ALL

Results per page

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
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs118203998	PALB2	0.790	0.400	16	23603471	stop gained	G/C;T	snv	1.6E-05; 4.0E-06		11
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	16
rs1555460445	PALB2	0.925	0.200	16	23629936	stop gained	G/A	snv			3
rs1800747	BRCA1	0.882	0.200	17	43063952	splice acceptor variant	C/A;G;T	snv			5
rs180177083	PALB2	0.925	0.200	16	23637865	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		3
rs180177100	PALB2	0.827	0.400	16	23635306	stop gained	G/A	snv	8.0E-06	1.4E-05	6
rs180177110	PALB2	0.882	0.200	16	23629897	stop gained	G/A;T	snv	2.4E-05		4
rs180177132	PALB2	0.790	0.280	16	23621362	stop gained	C/T	snv	6.0E-05	2.1E-05	11
rs200432447	CHEK2	0.925	0.200	22	28687974	stop gained	G/A;C	snv	4.3E-06		4
rs276174900	BRCA2	0.882	0.200	13	32363204	stop gained	A/G;T	snv	2.0E-05		4
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		16
rs28897686	BRCA1	0.882	0.200	17	43091783	stop gained	C/A;T	snv	8.0E-06; 2.0E-04		4
rs28897696	BRCA1	0.807	0.200	17	43063903	missense variant	G/A;C;T	snv	2.8E-05; 4.0E-06; 2.0E-05		11
rs28897743	BRCA2	0.827	0.280	13	32346896	missense variant	G/A;C;T	snv	4.0E-06		8
rs28897756	BRCA2	0.752	0.440	13	32379913	splice region variant	G/A;C;T	snv	4.0E-06		11
rs28897759	BRCA2	0.851	0.200	13	32394803	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		5
rs375699023	PALB2	0.925	0.200	16	23635504	stop gained	G/A;T	snv	4.0E-05		3
rs397507389	BRCA2	0.882	0.200	13	32357741	splice acceptor variant	G/A;C	snv			4
rs397507404	BRCA2	0.763	0.320	13	32370955	splice acceptor variant	G/A;T	snv			10
rs397507411	BRCA2	0.882	0.200	13	32376732	stop gained	C/T	snv			4
rs397507758	BRCA2	0.807	0.200	13	32339456	stop gained	C/T	snv			6
rs397507912	BRCA2	0.882	0.200	13	32355219	stop gained	C/G;T	snv			4
rs397508045	BRCA2	0.763	0.320	13	32319101	stop gained	G/A;T	snv	4.0E-06; 4.0E-06		9