DisGeNET - a database of gene-disease associations

List of associated variants

Epithelial ovarian cancer, C0677886

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
rs768623239	GSTM1 ; GSTM2	0.662	0.640	1	109689278	missense variant	A/G	snv	1.5E-05		26
rs851797	EXO1	0.752	0.240	1	241889740	3 prime UTR variant	A/G	snv		0.72	13
rs17401966	KIF1B	0.790	0.280	1	10325413	intron variant	A/G	snv		0.24	7
rs56318008	LOC105376845 ; WNT4	0.925	0.120	1	22143914	5 prime UTR variant	C/T	snv		0.13	3
rs1002076	KIF1B	0.925	0.120	1	10378834	3 prime UTR variant	G/A	snv		0.33	2
rs10788679	ARHGEF10L	0.925	0.120	1	17590467	intron variant	A/G	snv		0.59	2
rs2256787	ARHGEF10L	0.925	0.120	1	17566321	intron variant	A/C	snv		0.93	2
rs3820282	LOC105376845 ; WNT4	0.925	0.120	1	22141722	intron variant	C/T	snv		0.13	2
rs12039431	RSPO1	1.000	0.120	1	37616450	intron variant	G/A	snv	0.24	0.21	1
rs1614627		1.000	0.120	1	20620263	downstream gene variant	A/C	snv		0.86	1
rs17130142	PKN2-AS1	1.000	0.120	1	87773925	intron variant	G/A	snv		6.5E-02	1
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs6165	FSHR	0.724	0.160	2	48963902	missense variant	C/G;T	snv	4.0E-06; 0.55		14
rs2303428	MSH2	0.776	0.240	2	47476361	splice region variant	T/A;C;G	snv	4.0E-06; 0.12		9
rs2072590	HAGLR ; HAGLROS	0.851	0.120	2	176177905	non coding transcript exon variant	A/C;T	snv			4
rs6704688	CASP8	0.882	0.160	2	201241309	non coding transcript exon variant	C/A;T	snv			3
rs74917072	UBE2F ; UBE2F-SCLY	0.882	0.120	2	238022053	intron variant	G/A;T	snv			3
rs1983383	CAPN13	0.925	0.120	2	30754766	intron variant	C/A	snv		0.39	2
rs3769827	CASP8	0.925	0.120	2	201237962	intron variant	A/G	snv		0.42	2
rs7572644	BABAM2	0.925	0.120	2	28097166	intron variant	T/C	snv		0.21	2
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60