DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of ovary, C1140680

Source: CLINVAR ×

Results per page

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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			26
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			20
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		19
rs876660754	TP53	0.701	0.360	17	7675095	missense variant	C/A;T	snv			18
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		14
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			13
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		12
rs80358721	BRCA2	0.724	0.320	13	32339320	stop gained	C/A;G;R	snv	4.2E-06		11
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	11
rs587776650	NBN	0.790	0.280	8	89971214	frameshift variant	GTTTT/-	delins		2.0E-04	11
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	10
rs137853011	CHEK2	0.763	0.280	22	28695219	missense variant	G/A	snv	4.9E-04	2.6E-04	10
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		9
rs80356898	BRCA1	0.752	0.200	17	43093844	stop gained	G/A;C	snv	2.8E-05; 4.0E-06		9
rs137852986	BRIP1	0.732	0.440	17	61716051	stop gained	G/A	snv	1.7E-04	1.5E-04	9
rs121913413	CTNNB1	0.763	0.240	3	41224634	missense variant	C/A;T	snv			9
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	9
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
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	6