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
rs81002893	BRCA2	0.925	0.200	13	32376795	splice region variant	A/G;T	snv			3
rs886040949	BRCA2	0.925	0.200	13	32379745	splice region variant	A/G	snv			3
rs397507884	BRCA2	0.925	0.200	13	32329496	splice region variant	A/G;T	snv			2
rs397509211	BRCA1	0.925	0.200	17	43070923	splice region variant	C/A;G;T	snv			2
rs397509265	BRCA1	0.925	0.200	17	43049197	splice region variant	A/C	snv			2
rs764896402	RAD51B	1.000	0.200	14	67823627	splice region variant	G/A	snv	4.0E-06		2
rs80358143	BRCA1	0.925	0.200	17	43082398	splice region variant	A/C;G	snv			2
rs80358165	BRCA1	0.925	0.200	17	43063869	splice region variant	C/G;T	snv			2
rs81002806	BRCA2	1.000	0.200	13	32370560	splice region variant	A/G	snv			2
rs886040910	BRCA1	0.925	0.200	17	43076483	splice region variant	C/A;G	snv			2
rs1555280328	BRCA2	1.000	0.200	13	32319074	splice region variant	ATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAG/-	delins			1
rs80356853	BRCA1	1.000	0.200	17	43067609	splice region variant	T/A;C;G	snv			1
rs397507404	BRCA2	0.763	0.320	13	32370955	splice acceptor variant	G/A;T	snv			10
rs80358189	BRCA1	0.827	0.200	17	43074522	splice acceptor variant	C/A;G;T	snv	1.2E-05		6
rs1800747	BRCA1	0.882	0.200	17	43063952	splice acceptor variant	C/A;G;T	snv			5
rs81002836	BRCA2	0.851	0.200	13	32362521	splice acceptor variant	A/G;T	snv			5
rs273901746	BRCA1	0.882	0.200	17	43063375	splice acceptor variant	T/-	del			4
rs397507389	BRCA2	0.882	0.200	13	32357741	splice acceptor variant	G/A;C	snv			4
rs80357973	BRCA1	0.925	0.200	17	43045793	splice acceptor variant	CCAATTGC/-;CCAATTGCCCAATTGC	delins			4
rs80358069	BRCA1	0.882	0.200	17	43057137	splice acceptor variant	T/C;G	snv	4.0E-06		4
rs81002831	BRCA2	0.882	0.200	13	32330918	splice acceptor variant	G/C;T	snv			4
rs273899695	BRCA1	0.925	0.200	17	43104263	splice acceptor variant	T/-	del		7.0E-06	3
rs276174916	BRCA2	0.925	0.200	13	32379749	splice acceptor variant	GTT/AA	delins			3
rs397507340	BRCA2	0.925	0.200	13	32326241	splice acceptor variant	G/A;C;T	snv			3
rs397507842	BRCA2	0.925	0.200	13	32329441	splice acceptor variant	A/C;G	snv	4.1E-06		3