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
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1136201	ERBB2	0.645	0.280	17	39723335	missense variant	A/G;T	snv	0.20		34
rs1136905	HLA-DRB3 ; HLA-DRB5	0.882	0.120	6	32518660	missense variant	T/A;C	snv	4.2E-03		3
rs113954997	RRAS2	0.882	0.280	11	14294844	missense variant	T/A;C	snv			3
rs11571833	BRCA2	0.608	0.360	13	32398489	stop gained	A/T	snv	6.6E-03	6.0E-03	43
rs11651755	HNF1B	0.763	0.160	17	37739849	intron variant	T/C	snv		0.52	9
rs11655505	NBR2 ; BRCA1	0.776	0.160	17	43126360	intron variant	G/A	snv		0.31	8
rs11683487	NMI	0.882	0.120	2	151286035	intron variant	G/T	snv		0.36	3
rs11782652	CHMP4C	0.851	0.120	8	81741409	intron variant	A/G	snv		6.6E-02	4
rs118203998	PALB2	0.790	0.400	16	23603471	stop gained	G/C;T	snv	1.6E-05; 4.0E-06		11
rs11954856	APC	0.732	0.200	5	112751630	intron variant	T/G	snv		0.54	12
rs1199923024	BRIP1	1.000	0.120	17	61683945	missense variant	G/A	snv	1.6E-05	7.0E-06	1
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			23
rs121913322	STK11	0.882	0.120	19	1221320	missense variant	C/A;G;T	snv	2.9E-05; 1.2E-04		4
rs121913340	BRAF	1.000	0.120	7	140753379	missense variant	C/T	snv			1
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			23
rs121913413	CTNNB1	0.763	0.240	3	41224634	missense variant	C/A;T	snv			11
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144