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
rs6166	FSHR	0.708	0.240	2	48962782	missense variant	C/T	snv	0.57	0.57	17
rs6165	FSHR	0.724	0.160	2	48963902	missense variant	C/G;T	snv	4.0E-06; 0.55		14
rs28997576	BARD1	0.776	0.160	2	214752454	missense variant	C/G;T	snv	1.5E-02		11
rs267607911	MSH2	0.851	0.200	2	47403192	start lost	A/C;G;T	snv	5.1E-05; 1.4E-05		8
rs1836724	ERBB4	0.807	0.240	2	211380227	3 prime UTR variant	G/A	snv		0.57	6
rs2072590	HAGLR ; HAGLROS	0.851	0.120	2	176177905	non coding transcript exon variant	A/C;T	snv			4
rs6886	CAPG	0.925	0.160	2	85394936	missense variant	T/A;C	snv	0.58		4
rs11683487	NMI	0.882	0.120	2	151286035	intron variant	G/T	snv		0.36	3
rs4954956		0.882	0.120	2	138787007	regulatory region variant	C/T	snv		0.25	3
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		71
rs746702110	OGG1	0.627	0.480	3	9756778	missense variant	C/T	snv	1.2E-05	2.8E-05	38
rs752742313	PIK3CB	0.637	0.320	3	138655502	missense variant	C/T	snv	1.2E-05		36
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs1799977	MLH1	0.662	0.440	3	37012077	missense variant	A/C;G;T	snv	0.23		28
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		25
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			23
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			23
rs17251221	CASR	0.724	0.360	3	122274400	intron variant	A/G	snv		0.11	18
rs1057519865	FOXL2NB ; FOXL2	0.742	0.240	3	138946321	missense variant	G/C	snv			15
rs121913413	CTNNB1	0.763	0.240	3	41224634	missense variant	C/A;T	snv			11
rs2699887	PIK3CA ; LOC101928739	0.763	0.280	3	179148620	intron variant	C/T	snv		0.18	11
rs2660753		0.790	0.240	3	87061524	intergenic variant	T/C	snv		0.76	9