DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, Ovarian Epithelial, C4721610

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
rs1989839	ZMYND10 ; RASSF1	0.790	0.160	3	50341515	intron variant	A/G	snv	0.22	0.20	8
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs2287498	WRAP53 ; TP53	0.882	0.120	17	7689242	synonymous variant	C/T	snv	0.13	0.14	4
rs2287497	WRAP53 ; TP53	0.882	0.120	17	7689462	intron variant	G/A	snv		0.25	3
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs2146323	VEGFA	0.752	0.480	6	43777358	non coding transcript exon variant	C/A	snv		0.31	13
rs3025033	VEGFA	0.807	0.360	6	43783338	non coding transcript exon variant	A/G	snv		0.18	6
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs731236	VDR	0.542	0.760	12	47844974	synonymous variant	A/G	snv	0.33	0.34	81
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs7975232	VDR	0.576	0.760	12	47845054	intron variant	C/A	snv	0.51	0.55	56
rs11568820	VDR	0.672	0.480	12	47908762	intron variant	C/T	snv		0.38	27
rs7305032	VDR	0.925	0.120	12	47856077	intron variant	G/A	snv		0.61	2
rs2516839	USF1	0.732	0.320	1	161043331	5 prime UTR variant	C/T	snv		0.49	14
rs10017134	UGT2A2 ; UGT2A1	0.925	0.120	4	69591303	intron variant	T/C	snv		0.75	2
rs74917072	UBE2F ; UBE2F-SCLY	0.882	0.120	2	238022053	intron variant	G/A;T	snv			3
rs3737787	TSTD1 ; USF1	0.763	0.280	1	161039733	3 prime UTR variant	G/A	snv		0.21	11
rs17250239	TRAF2	0.925	0.120	9	136902178	non coding transcript exon variant	G/A	snv		7.2E-02	2
rs4648551	TP73	0.882	0.120	1	3716166	intron variant	G/A	snv		0.32	3
rs6695978	TP73	0.882	0.120	1	3731781	intron variant	G/A	snv		7.3E-02	3
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242