DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of ovary, C1140680

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
rs2304277	OGG1 ; CAMK1	0.776	0.280	3	9759396	non coding transcript exon variant	G/A	snv		0.26	8
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs746702110	OGG1	0.627	0.480	3	9756778	missense variant	C/T	snv	1.2E-05	2.8E-05	38
rs79722116	FANCC ; AOPEP ; LOC107987102	0.882	0.120	9	95107192	synonymous variant	C/T	snv	4.6E-04	2.0E-04	3
rs372000848	MRE11	1.000	0.120	11	94470575	missense variant	G/A	snv	5.2E-05	7.7E-05	1
rs8037137	RCCD1	0.807	0.160	15	90963407	upstream gene variant	T/C	snv		0.19	8
rs200389141	BLM	0.776	0.320	15	90761015	stop gained	C/A;T	snv	4.1E-06; 1.4E-04	1.7E-04	11
rs587776650	NBN	0.790	0.280	8	89971214	frameshift variant	GTTTT/-	delins		2.0E-04	11
rs2229109	ABCB1	0.807	0.240	7	87550493	missense variant	C/A;T	snv	2.7E-02		8
rs35068177	ABCB1	0.882	0.120	7	87550213	synonymous variant	T/C	snv	2.2E-04	3.1E-04	3
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs2660753		0.790	0.240	3	87061524	intergenic variant	T/C	snv		0.76	9
rs6886	CAPG	0.925	0.160	2	85394936	missense variant	T/A;C	snv	0.58		4
rs11782652	CHMP4C	0.851	0.120	8	81741409	intron variant	A/G	snv		6.6E-02	4
rs1046428	GSTZ1	0.776	0.200	14	77327940	missense variant	T/A;C	snv	4.0E-06; 0.81		8
rs3177427	GSTZ1	0.827	0.160	14	77326864	stop gained	G/A;C;T	snv			5
rs2287497	WRAP53 ; TP53	0.882	0.120	17	7689462	intron variant	G/A	snv		0.25	3
rs2287498	WRAP53 ; TP53	0.882	0.120	17	7689242	synonymous variant	C/T	snv	0.13	0.14	4
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs876660754	TP53	0.701	0.360	17	7675095	missense variant	C/A;T	snv			20
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			34
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs1131691022	TP53	0.827	0.160	17	7670685	frameshift variant	GG/A;G	delins			6