DisGeNET - a database of gene-disease associations

List of shared variants

Breast Carcinoma, C0678222

Disease: Carcinoma, Ovarian Epithelial

Source: BEFREE ×

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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
rs4987208	RAD52	0.851	0.160	12	913403	stop gained	A/C	snv	3.5E-02	2.1E-02	4
rs190900046	BRCA1	0.827	0.160	17	43104197	synonymous variant	A/C	snv	8.0E-06	4.2E-05	5
rs3177427	GSTZ1	0.827	0.160	14	77326864	stop gained	G/A;C;T	snv			5
rs587782818	RAD51C	0.790	0.160	17	58703325	stop gained	C/G	snv	6.4E-05; 4.0E-06	1.4E-05	5
rs638820	GSTM4 ; GSTM2	0.827	0.160	1	109667284	intron variant	G/A	snv		0.52	5
rs750042441	PGR ; PGR-AS1	0.827	0.160	11	101128367	missense variant	G/A;C	snv	6.1E-05; 4.3E-06		5
rs80356897	BRCA1	0.827	0.160	17	43099853	missense variant	A/G	snv			5
rs1836724	ERBB4	0.807	0.240	2	211380227	3 prime UTR variant	G/A	snv		0.57	6
rs764918809	MDM2	0.827	0.160	12	68839337	missense variant	T/C	snv	4.0E-06		6
rs786203319	BRCA1	0.827	0.160	17	43115759	missense variant	G/A	snv			6
rs80357750	BRCA1	0.790	0.200	17	43115759	frameshift variant	G/-	delins			6
rs886039920	BRCA1	0.807	0.160	17	43115755	frameshift variant	ACAGG/-	delins			6
rs1467465	THEMIS2	0.827	0.160	1	27884892	non coding transcript exon variant	A/G	snv		0.61	7
rs1801200	ERBB2	0.790	0.200	17	39723335	missense variant	A/G;T	snv			7
rs6917	PHB	0.790	0.200	17	49404181	3 prime UTR variant	G/A	snv		0.16	7
rs1046428	GSTZ1	0.776	0.200	14	77327940	missense variant	T/A;C	snv	4.0E-06; 0.81		8
rs11655505	NBR2 ; BRCA1	0.776	0.160	17	43126360	intron variant	G/A	snv		0.31	8
rs2180314	GSTA2	0.776	0.200	6	52752933	missense variant	C/G	snv	0.60	0.52	8
rs2304277	OGG1 ; CAMK1	0.776	0.280	3	9759396	non coding transcript exon variant	G/A	snv		0.26	8
rs2363956	ANKLE1	0.776	0.160	19	17283315	missense variant	T/G	snv	0.48	0.50	8
rs2665390	LOC107986148 ; TIPARP	0.776	0.160	3	156679960	intron variant	C/T	snv		0.92	8
rs56307747	ELN ; ELN-AS1	0.776	0.160	7	74059952	missense variant	G/A;C	snv	4.0E-06		8
rs2303428	MSH2	0.776	0.240	2	47476361	splice region variant	T/A;C;G	snv	4.0E-06; 0.12		9
rs41293459	BRCA1	0.763	0.280	17	43063930	missense variant	C/A;G;T	snv	2.4E-05		9
rs748876625	BRCA1	0.807	0.160	17	43104122	missense variant	C/A;G	snv	1.2E-05		9