DisGeNET - a database of gene-disease associations

List of shared variants

Epithelial ovarian cancer, C0677886

Disease: Malignant neoplasm of ovary

Source: ALL

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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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	53
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs4759314	HOTAIR	0.649	0.440	12	53968051	non coding transcript exon variant	G/A	snv		0.93	31
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv		6.2E-02	29
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			23
rs6165	FSHR	0.724	0.160	2	48963902	missense variant	C/G;T	snv	4.0E-06; 0.55		14
rs1799950	BRCA1	0.752	0.240	17	43094464	missense variant	T/C	snv	4.7E-02	4.6E-02	13
rs8170	BABAM1 ; USHBP1	0.724	0.160	19	17278895	synonymous variant	G/A	snv	0.15	0.18	13
rs851797	EXO1	0.752	0.240	1	241889740	3 prime UTR variant	A/G	snv		0.72	13
rs2070074	GALT	0.742	0.360	9	34649445	missense variant	A/G	snv	9.2E-02	7.4E-02	12
rs80357796	BRCA1	0.752	0.240	17	43094464	frameshift variant	T/-	del			11
rs11651755	HNF1B	0.763	0.160	17	37739849	intron variant	T/C	snv		0.52	9