DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma, Ovarian Epithelial, C4721610

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs200182588	SMC2-AS1 ; SMC2	0.827	0.160	9	104094409	5 prime UTR variant	-/GC	ins		7.0E-06	6
rs67164370	RASSF2	0.851	0.120	20	4787830	intron variant	-/AGGGACT	ins			4
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs80357796	BRCA1	0.752	0.240	17	43094464	frameshift variant	T/-	del			11
rs80357678	BRCA1	0.851	0.200	17	43091614	frameshift variant	AA/-	del			5
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs80357750	BRCA1	0.790	0.200	17	43115759	frameshift variant	G/-	delins			8
rs886039920	BRCA1	0.807	0.160	17	43115755	frameshift variant	ACAGG/-	delins			7
rs80357517	BRCA1	0.827	0.200	17	43092277	frameshift variant	-/T	delins			5
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242