DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of ovary, C1140680

Source: CURATED ×

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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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		1
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	34
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			1
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	1
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	6
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		1
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		21
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	1
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		1
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		48
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	29
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	2
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		35
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	4
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			1
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			1
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			1
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	13
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	19
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		2
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		15
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	21
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29