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
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs755378873	SLC13A5	0.851	0.120	17	6694197	missense variant	C/A;T	snv	4.0E-06		5
rs11175194	SRGAP1	0.925	0.120	12	63871057	intron variant	G/A	snv		0.15	2
rs8044477		1.000	0.120	16	58942687	intron variant	A/G	snv		0.53	1
rs114972508	EGFR ; LOC105375284	0.925	0.120	7	55020815	intron variant	T/C	snv		1.4E-02	2
rs146314922	NLRP2	0.925	0.120	19	54982828	missense variant	A/G	snv			2
rs4759314	HOTAIR	0.649	0.440	12	53968051	non coding transcript exon variant	G/A	snv		0.93	31
rs7958904	HOTAIR	0.724	0.200	12	53963768	non coding transcript exon variant	C/A;G	snv			15
rs2302254	NME1-NME2 ; NME1	0.752	0.240	17	51153539	5 prime UTR variant	C/T	snv		0.22	15
rs16949649	NME1 ; NME1-NME2	0.776	0.200	17	51152947	upstream gene variant	T/C	snv		0.39	12
rs2190503	GRB10	0.925	0.120	7	50674920	intron variant	A/G;T	snv			2
rs4525119	LOC107984198 ; AKR1C3	0.925	0.120	10	5049762	intron variant	C/T	snv		0.30	2
rs6165	FSHR	0.724	0.160	2	48963902	missense variant	C/G;T	snv	4.0E-06; 0.55		14
rs9303542	SKAP1	0.882	0.120	17	48334138	intron variant	A/G	snv		0.34	3
rs67164370	RASSF2	0.851	0.120	20	4787830	intron variant	-/AGGGACT	ins			4
rs7305032	VDR	0.925	0.120	12	47856077	intron variant	G/A	snv		0.61	2
rs7975232	VDR	0.576	0.760	12	47845054	intron variant	C/A	snv	0.51	0.55	56
rs2303428	MSH2	0.776	0.240	2	47476361	splice region variant	T/A;C;G	snv	4.0E-06; 0.12		9
rs183211	LRRC37A2 ; NSF	0.882	0.160	17	46710944	intron variant	G/A	snv	0.28	0.30	4
rs561841834	COL18A1	0.925	0.120	21	45468531	synonymous variant	C/T	snv	8.0E-06		2
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
rs1265794840	ERCC2	0.851	0.160	19	45365131	missense variant	C/T	snv		7.0E-06	6
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs80357138	BRCA1	0.763	0.200	17	43094776	missense variant	C/T	snv	8.0E-06		9