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
rs80359477	BRCA2	0.851	0.200	13	32339386	frameshift variant	AA/-;A	delins			5
rs1321845532	TP53	0.851	0.160	17	7670685	frameshift variant	GG/A;G	delins			4
rs80357828	BRCA1	0.882	0.200	17	43092155	frameshift variant	GA/-	delins			3
rs869312774	PALB2	0.925	0.160	16	23614019	frameshift variant	T/-	delins			3
rs1064795649	BRIP1	1.000	0.120	17	61799205	frameshift variant	CT/-	delins			2
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv			55
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv		6.2E-02	29
rs4143815	CD274	0.689	0.400	9	5468257	3 prime UTR variant	G/C	snv		0.23	20
rs851797	EXO1	0.752	0.240	1	241889740	3 prime UTR variant	A/G	snv		0.72	13
rs3737787	TSTD1 ; USF1	0.763	0.280	1	161039733	3 prime UTR variant	G/A	snv		0.21	11
rs6917	PHB	0.790	0.200	17	49404181	3 prime UTR variant	G/A	snv		0.16	7
rs1836724	ERBB4	0.807	0.240	2	211380227	3 prime UTR variant	G/A	snv		0.57	6
rs2424932	DNMT3B	0.827	0.200	20	32808730	3 prime UTR variant	A/G;T	snv			5
rs6443626	PIK3CA ; KCNMB3	0.851	0.200	3	179237995	3 prime UTR variant	T/C	snv		0.24	4
rs3976507	PIK3CA ; KCNMB3	0.882	0.120	3	179239995	3 prime UTR variant	C/T	snv	0.19	0.24	3
rs608995	PGR	0.882	0.120	11	101035002	3 prime UTR variant	A/T	snv		0.27	3
rs869312756	ATM	0.925	0.320	11	108307985	splice donor variant	G/A;T	snv			3
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30
rs2516839	USF1	0.732	0.320	1	161043331	5 prime UTR variant	C/T	snv		0.49	14
rs2297235	GSTO2	0.752	0.320	10	104274733	5 prime UTR variant	A/G	snv		0.22	11
rs200182588	SMC2-AS1 ; SMC2	0.827	0.160	9	104094409	5 prime UTR variant	-/GC	ins		7.0E-06	6
rs540432391	CGB5	0.882	0.120	19	49043993	5 prime UTR variant	G/A;C	snv			5
rs238406	ERCC2	0.677	0.480	19	45365051	synonymous variant	T/G	snv	0.58	0.65	23
rs2228611	DNMT1	0.708	0.520	19	10156401	synonymous variant	T/A;C	snv	0.52		19