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
rs587780021	BARD1	0.851	0.200	2	214745842	stop gained	G/A	snv	2.4E-05	2.8E-05	6
rs587781948	BARD1	0.882	0.200	2	214730491	stop gained	G/A	snv	1.6E-05	3.5E-05	5
rs587780024	BARD1	0.925	0.200	2	214730458	stop gained	CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC	delins			3
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
rs41295268	MSH6 ; FBXO11	1.000	0.200	2	47799386	missense variant	G/A;C	snv	3.2E-05; 4.0E-06		1
rs977584514	BARD1	1.000	0.200	2	214728813	missense variant	A/G	snv			1
rs587779954	MLH1	1.000	0.200	3	37040264	missense variant	A/G	snv	8.0E-06	1.4E-05	1
rs1553938364	ABRAXAS1	1.000	0.200	4	83485026	frameshift variant	AGCACAAAGCCCGAGAGCACCG/-	delins			1
rs767454740	NBN	0.882	0.320	8	89982736	frameshift variant	AA/-	delins		7.0E-06	4
rs1554568427	NBN	0.925	0.240	8	89981520	stop gained	G/A	snv			2
rs770641163	ATM ; C11orf65	0.882	0.360	11	108365208	stop gained	C/G;T	snv	4.0E-06; 1.2E-05		4
rs778031266	ATM ; C11orf65	0.882	0.360	11	108316114	splice donor variant	G/A	snv	4.0E-06		4
rs202160435	ATM	0.925	0.240	11	108247072	missense variant	G/A	snv	8.0E-05	6.3E-05	2
rs730881364	ATM	1.000	0.200	11	108284226	splice acceptor variant	G/A;C	snv			2
rs786202801	MRE11	1.000	0.200	11	94429909	splice donor variant	A/T	snv	1.2E-05	7.0E-06	2
rs1057519364	ATM	1.000	0.200	11	108253839	stop gained	G/T	snv			1
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
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv		6.2E-02	29
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs41293497	BRCA2	0.724	0.440	13	32340037	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		14
rs80358721	BRCA2	0.724	0.320	13	32339320	stop gained	C/A;G;R	snv	4.2E-06		14
rs80358920	BRCA2	0.732	0.400	13	32346841	stop gained	C/G;T	snv			14
rs80358814	BRCA2	0.742	0.440	13	32340212	stop gained	G/T	snv	8.0E-06		12