DisGeNET - a database of gene-disease associations

List of associated variants

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

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
rs1555461618	PALB2	0.925	0.200	16	23635743	frameshift variant	-/TA	delins			2
rs1555461870	PALB2	0.925	0.200	16	23636317	frameshift variant	AT/-	delins			2
rs180177083	PALB2	0.925	0.200	16	23637865	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		3
rs200432447	CHEK2	0.925	0.200	22	28687974	stop gained	G/A;C	snv	4.3E-06		4
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	10
rs587780174	CHEK2	0.827	0.360	22	28695239	frameshift variant	A/-	delins	4.4E-05	5.6E-05	7
rs587781699	CHEK2	0.925	0.200	22	28703504	splice donor variant	C/A;G;T	snv			3
rs587782471	CHEK2	0.851	0.240	22	28711994	missense variant	A/G;T	snv	3.5E-04; 8.0E-06		4
rs587782008	CHEK2	0.925	0.200	22	28725084	inframe deletion	TCT/-	delins	1.6E-05		3
rs758732038	BRCA2	1.000	0.200	13	32316420	splice acceptor variant	GA/-	delins			1
rs761283611	BRCA2	1.000	0.200	13	32316457	start lost	A/-	delins	8.0E-06	7.0E-06	1
rs863224464	BRCA2	0.925	0.200	13	32316461	start lost	A/G	snv			1
rs80358547	BRCA2	0.851	0.200	13	32316462	start lost	T/A;C;G	snv	8.0E-06		3
rs80358650	BRCA2	0.925	0.200	13	32316463	start lost	G/A;T	snv			3
rs397507623	BRCA2	0.925	0.200	13	32316478	frameshift variant	AGAG/-;AG	delins			2
rs80359343	BRCA2	0.925	0.200	13	32316485	frameshift variant	C/-	delins			3
rs80359393	BRCA2	0.925	0.200	13	32316491	frameshift variant	T/-;TT	delins			2
rs80359400	BRCA2	0.925	0.200	13	32316497	frameshift variant	-/T	ins			2
rs80359483	BRCA2	0.882	0.200	13	32316509	frameshift variant	AC/-	delins			4
rs886040574	BRCA2	0.925	0.200	13	32316509	frameshift variant	CGCTGCAACA/-	delins			2
rs81002796	BRCA2	0.925	0.200	13	32316528	splice donor variant	G/A;C;T	snv			4
rs81002885	BRCA2	0.827	0.280	13	32316529	splice donor variant	T/A;C;G	snv	4.0E-06		6
rs863224439	BRCA2	1.000	0.200	13	32316529	splice donor variant	T/-	del			1
rs1555280328	BRCA2	1.000	0.200	13	32319074	splice region variant	ATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAAACCTATTTAAAACTCCACAAAGGAAACCATCTTATAATCAGCTGGCTTCAACTCCAATAATATTCAAAGAGCAAGGGCTGACTCTGCCGCTGTACCAATCTCCTGTAAAAGAATTAGATAAATTCAAATTAGACTTAG/-	delins			1
rs769152395	BRCA2	0.925	0.200	13	32319075	splice acceptor variant	A/G	snv	4.0E-06		3