DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Source: ALL

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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
rs202160435	ATM	0.925	0.240	11	108247072	missense variant	G/A	snv	8.0E-05	6.3E-05	2
rs1057519364	ATM	1.000	0.200	11	108253839	stop gained	G/T	snv			1
rs730881364	ATM	1.000	0.200	11	108284226	splice acceptor variant	G/A;C	snv			2
rs778031266	ATM ; C11orf65	0.882	0.360	11	108316114	splice donor variant	G/A	snv	4.0E-06		4
rs1555124587	ATM ; C11orf65	1.000	0.200	11	108331957	stop gained	G/T	snv			1
rs376824528	ATM ; C11orf65	1.000	0.200	11	108332789	missense variant	A/G	snv	1.6E-05	4.2E-05	1
rs770641163	ATM ; C11orf65	0.882	0.360	11	108365208	stop gained	C/G;T	snv	4.0E-06; 1.2E-05		4
rs977584514	BARD1	1.000	0.200	2	214728813	missense variant	A/G	snv			1
rs587780024	BARD1	0.925	0.200	2	214730458	stop gained	CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC	delins			3
rs587781948	BARD1	0.882	0.200	2	214730491	stop gained	G/A	snv	1.6E-05	3.5E-05	5
rs587780021	BARD1	0.851	0.200	2	214745842	stop gained	G/A	snv	2.4E-05	2.8E-05	6
rs796666047	BARD1	0.925	0.200	2	214780669	stop gained	G/C;T	snv	8.0E-06		3
rs879254139	BARD1	0.925	0.200	2	214797118	splice acceptor variant	C/A;T	snv			3
rs118203998	PALB2	0.790	0.400	16	23603471	stop gained	G/C;T	snv	1.6E-05; 4.0E-06		11
rs180177135	PALB2	0.716	0.520	16	23607891	frameshift variant	T/-	del		2.1E-05	27
rs587782337	PALB2	1.000	0.200	16	23607925	frameshift variant	GGTT/NNNNNNNN;TCATTAAC	delins			2
rs180177132	PALB2	0.790	0.280	16	23621362	stop gained	C/T	snv	6.0E-05	2.1E-05	11
rs180177126	PALB2	0.925	0.200	16	23623044	frameshift variant	TT/-	delins			3
rs767633741	PALB2	0.925	0.200	16	23626377	frameshift variant	G/-;GG	delins			3
rs180177110	PALB2	0.882	0.200	16	23629897	stop gained	G/A;T	snv	2.4E-05		4
rs1555460445	PALB2	0.925	0.200	16	23629936	stop gained	G/A	snv			3
rs587776416	PALB2	0.882	0.240	16	23629986	frameshift variant	AT/-	del	6.4E-05	2.1E-05	5
rs786203714	PALB2	0.925	0.200	16	23635095	stop gained	A/T	snv			4
rs180177100	PALB2	0.827	0.400	16	23635306	stop gained	G/A	snv	8.0E-06	1.4E-05	6
rs375699023	PALB2	0.925	0.200	16	23635504	stop gained	G/A;T	snv	4.0E-05		3