DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of ovary, C1140680

Source: CURATED ×

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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
rs137852986	BRIP1	0.732	0.440	17	61716051	stop gained	G/A	snv	1.7E-04	1.5E-04	9
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	8
rs118203998	PALB2	0.790	0.400	16	23603471	stop gained	G/C;T	snv	1.6E-05; 4.0E-06		8
rs55770810	BRCA1	0.763	0.280	17	43063931	missense variant	G/A;T	snv	2.4E-05; 8.0E-06		7
rs80358981	BRCA2	0.827	0.200	13	32356550	stop gained	C/T	snv	2.0E-05	1.4E-05	7
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	6
rs63750695	PMS2	0.851	0.280	7	5978675	frameshift variant	AAGTT/-	delins			6
rs8170	BABAM1 ; USHBP1	0.724	0.160	19	17278895	synonymous variant	G/A	snv	0.15	0.18	5
rs28897696	BRCA1	0.807	0.200	17	43063903	missense variant	G/A;C;T	snv	2.8E-05; 4.0E-06; 2.0E-05		5
rs41293459	BRCA1	0.763	0.280	17	43063930	missense variant	C/A;G;T	snv	2.4E-05		5
rs80187739	BRCA1	0.851	0.200	17	43067608	missense variant	C/A;G;T	snv	1.2E-05		5
rs80357474	BRCA1	0.827	0.200	17	43049188	missense variant	A/C;G;T	snv	8.0E-06		5
rs80357669	BRCA1	0.851	0.200	17	43093074	frameshift variant	G/-	delins			5
rs587781803	BRCA2	0.851	0.200	13	32341169	frameshift variant	AAGAG/-	delins			5
rs80359477	BRCA2	0.851	0.200	13	32339386	frameshift variant	AA/-;A	delins			5
rs11651755	HNF1B	0.763	0.160	17	37739849	intron variant	T/C	snv		0.52	5
rs80357438	NBR2 ; BRCA1	0.851	0.200	17	43124032	stop gained	A/G;T	snv			5
rs200640585	PMS2	0.790	0.280	7	5992018	stop gained	G/A	snv	1.6E-05	1.4E-05	5
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	4
rs3814113		0.827	0.200	9	16915023	upstream gene variant	T/C	snv		0.41	4
rs2363956	ANKLE1	0.776	0.160	19	17283315	missense variant	T/G	snv	0.48	0.50	4
rs185229225	BOD1L1	0.851	0.120	4	13607505	intron variant	T/C	snv			4
rs80357233	BRCA1	0.882	0.200	17	43093393	stop gained	G/C;T	snv	4.0E-06		4
rs587778617	PMS2	0.807	0.240	7	5987504	stop gained	G/A	snv		7.0E-06	4
rs121913322	STK11	0.882	0.120	19	1221320	missense variant	C/A;G;T	snv	2.9E-05; 1.2E-04		4