DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Malignant neoplasm of ovary ×

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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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		7
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		4
rs55770810	BRCA1	0.763	0.280	17	43063931	missense variant	G/A;T	snv	2.4E-05; 8.0E-06		3
rs80357474	BRCA1	0.827	0.200	17	43049188	missense variant	A/C;G;T	snv	8.0E-06		3
rs121964872	CDH1	0.882	0.120	16	68833362	missense variant	A/G	snv	4.4E-05	1.1E-04	3
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			3
rs121913413	CTNNB1	0.763	0.240	3	41224634	missense variant	C/A;T	snv			3
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		3
rs121913322	STK11	0.882	0.120	19	1221320	missense variant	C/A;G;T	snv	2.9E-05; 1.2E-04		3
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		2
rs397514606	AKT3	0.763	0.320	1	243695714	missense variant	C/T	snv			2
rs273900729	BRCA1	0.925	0.160	17	43082529	missense variant	A/G	snv			2
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		2
rs28897701	BRCA2	0.925	0.160	13	32319232	missense variant	G/C	snv	2.6E-04	3.1E-04	2
rs41293521	BRCA2	0.925	0.160	13	32394724	missense variant	T/C	snv	2.9E-04	2.5E-04	2
rs4987046	BRCA2	0.925	0.160	13	32319134	missense variant	A/G	snv	1.6E-03	1.6E-03	2
rs80359078	BRCA2	0.882	0.160	13	32370430	missense variant	G/A	snv	3.2E-05	2.1E-05	2
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		2
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			2
rs387906659	AKT2	0.742	0.280	19	40257052	stop gained	C/A;T	snv			1
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		1
rs121913340	BRAF	1.000	0.120	7	140753379	missense variant	C/T	snv			1
rs1800709	BRCA1	0.851	0.160	17	43093010	missense variant	G/A	snv	1.7E-03	1.4E-03	1
rs1800726	BRCA1	1.000	0.120	17	43070993	missense variant	C/G;T	snv			1
rs1800751	BRCA1	0.851	0.160	17	43047676	missense variant	G/A;C	snv	4.0E-06		1