DisGeNET - a database of gene-disease associations

List of shared variants

ovarian neoplasm, C0919267

Disease: Neoplastic Syndromes, Hereditary

Source: INFERRED ×

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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
rs1555618709	BRIP1	0.925	0.240	17	61861461	frameshift variant	-/A	delins			3
rs587780236	BRIP1	0.882	0.280	17	61743118	frameshift variant	-/A	delins	8.0E-06	7.0E-06	4
rs730881939	RAD51C	0.851	0.200	17	58695008	stop gained	-/A	delins			5
rs80357516	BRCA1	0.882	0.200	17	43093653	frameshift variant	-/ACTA	delins			4
rs587781985	BRIP1	0.882	0.280	17	61780342	frameshift variant	-/C	ins	4.0E-06		4
rs80357906	BRCA1	0.827	0.200	17	43057062	frameshift variant	-/G	delins	1.8E-04		7
rs1114167776	MSH6 ; FBXO11	1.000	0.120	2	47791020	frameshift variant	-/T	delins			2
rs774440500	MRE11	1.000	0.120	11	94464115	frameshift variant	-/T	delins	4.0E-06; 1.6E-05		2
rs786203853	BRCA2	0.925	0.120	13	32339850	frameshift variant	-/T	delins			3
rs80357783	NBR2 ; BRCA1	0.851	0.200	17	43124030	frameshift variant	-/T	delins	4.0E-06		6
rs80359380	BRCA2	0.851	0.200	13	32337618	frameshift variant	-/T;TT	delins			5
rs1555609191	BRIP1	0.882	0.280	17	61808545	frameshift variant	A/-	del			4
rs730881645	BRIP1	0.882	0.280	17	61683850	frameshift variant	A/-	del	2.0E-05	5.6E-05	4
rs80359448	BRCA2	0.882	0.200	13	32338804	frameshift variant	A/-	del			4
rs886040129	BRCA1	0.925	0.120	17	43104221	frameshift variant	A/-	del			3
rs80357841	BRCA1	0.882	0.200	17	43092423	frameshift variant	A/-;AA	delins			4
rs80359752	BRCA2	0.882	0.200	13	32380136	frameshift variant	A/-;AA	delins			4
rs1555525279	TP53	1.000	0.120	17	7673795	missense variant	A/C	snv			2
rs587782410	BRIP1	0.882	0.280	17	61685976	stop gained	A/C	snv	1.2E-05	1.4E-05	4
rs587780259	RAD51C	0.882	0.120	17	58709857	splice acceptor variant	A/C;G	snv	2.0E-05	2.1E-05	4
rs587781589	TP53	1.000	0.120	17	7674268	missense variant	A/C;G	snv			2
rs1057519981	TP53	0.689	0.440	17	7674251	missense variant	A/C;G;T	snv			20
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		9
rs587780074	TP53	0.925	0.200	17	7674226	missense variant	A/C;G;T	snv			3
rs864622237	TP53	0.716	0.320	17	7674263	missense variant	A/C;G;T	snv			17