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
rs10788679	ARHGEF10L	0.925	0.120	1	17590467	intron variant	A/G	snv		0.59	2
rs146314922	NLRP2	0.925	0.120	19	54982828	missense variant	A/G	snv			2
rs149652370	RUVBL1	0.925	0.120	3	128084115	non coding transcript exon variant	A/G	snv		1.3E-04	2
rs17702471	GPC6	0.925	0.120	13	93224864	upstream gene variant	A/G	snv		0.16	2
rs3769827	CASP8	0.925	0.120	2	201237962	intron variant	A/G	snv		0.42	2
rs4286604		0.925	0.120	4	69576447	intron variant	A/G	snv		0.76	2
rs7501462		0.925	0.120	17	16974091	upstream gene variant	A/G	snv		0.31	2
rs927062	AKAP6	0.925	0.120	14	32625843	intron variant	A/G	snv		0.22	2
rs8044477		1.000	0.120	16	58942687	intron variant	A/G	snv		0.53	1
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs2190503	GRB10	0.925	0.120	7	50674920	intron variant	A/G;T	snv			2
rs17427875	HOXA11 ; HOXA11-AS	0.925	0.120	7	27185939	non coding transcript exon variant	A/T	snv		0.15	2
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs7975232	VDR	0.576	0.760	12	47845054	intron variant	C/A	snv	0.51	0.55	56
rs12921862	AXIN1	0.763	0.200	16	331927	intron variant	C/A	snv		0.18	10
rs1456079929	PGR	0.851	0.120	11	101042001	missense variant	C/A	snv	8.0E-06		5
rs1983383	CAPN13	0.925	0.120	2	30754766	intron variant	C/A	snv		0.39	2
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			23
rs7958904	HOTAIR	0.724	0.200	12	53963768	non coding transcript exon variant	C/A;G	snv			15
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
rs753461846	MAD1L1	0.925	0.120	7	1898249	missense variant	C/A;G;T	snv	4.0E-06; 2.8E-05		2
rs755378873	SLC13A5	0.851	0.120	17	6694197	missense variant	C/A;T	snv	4.0E-06		5
rs6704688	CASP8	0.882	0.160	2	201241309	non coding transcript exon variant	C/A;T	snv			3
rs372150314	SHMT1	0.925	0.120	17	18347596	missense variant	C/A;T	snv	4.0E-06		2