DisGeNET - a database of gene-disease associations

List of shared variants

ovarian neoplasm, C0919267

Disease: Neoplastic Syndromes, Hereditary

Source: INFERRED ×

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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
rs1114167776	MSH6 ; FBXO11	1.000	0.120	2	47791020	frameshift variant	-/T	delins			2
rs1131691022	TP53	0.827	0.160	17	7670685	frameshift variant	GG/A;G	delins			2
rs1131691029	TP53	0.827	0.160	17	7673794	missense variant	C/G	snv			2
rs1555525279	TP53	1.000	0.120	17	7673795	missense variant	A/C	snv			2
rs371524413	TP53	0.925	0.200	17	7675145	missense variant	C/G;T	snv	1.6E-05	2.8E-05	2
rs587781504	TP53	1.000	0.120	17	7676055	missense variant	C/A;T	snv			2
rs587781589	TP53	1.000	0.120	17	7674268	missense variant	A/C;G	snv			2
rs587781742	RAD50	1.000	0.120	5	132594868	splice acceptor variant	G/A;T	snv	4.0E-06; 8.0E-06		2
rs587782197	TP53	1.000	0.120	17	7675178	missense variant	A/G;T	snv			2
rs730882007	TP53	1.000	0.120	17	7674212	missense variant	T/G	snv			2
rs774440500	MRE11	1.000	0.120	11	94464115	frameshift variant	-/T	delins	4.0E-06; 1.6E-05		2
rs786201995	KLLN ; PTEN	1.000	0.120	10	87864539	missense variant	G/A;C;T	snv			2
rs876658170	PALB2	1.000	0.120	16	23629857	frameshift variant	AG/-	delins			2
rs876659215	TP53	1.000	0.120	17	7675146	frameshift variant	CCGGGCGGGGGTG/-	delins			2
rs876659463	PALB2	1.000	0.120	16	23621357	splice region variant	C/G	snv		7.0E-06	2
rs876660507	PTEN	1.000	0.120	10	87952134	missense variant	G/T	snv			2
rs1057517840	TP53	0.925	0.200	17	7674904	frameshift variant	CT/-	delins			3
rs1064793881	TP53	0.925	0.120	17	7673784	missense variant	C/T	snv			3
rs11540654	TP53	0.925	0.200	17	7676040	missense variant	C/A;G;T	snv	4.8E-05		3
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		3
rs1555525367	TP53	0.925	0.200	17	7673838	splice acceptor variant	C/A;T	snv			3
rs1555618709	BRIP1	0.925	0.240	17	61861461	frameshift variant	-/A	delins			3
rs201744589	TP53	0.882	0.240	17	7673728	stop gained	C/A;G;T	snv	4.0E-06; 1.2E-05		3
rs375338359	TP53	0.882	0.200	17	7670684	missense variant	C/G;T	snv	8.0E-06		3
rs397507215	BRCA1	0.925	0.120	17	43092179	stop gained	G/A	snv			3