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
rs876660754	TP53	0.701	0.360	17	7675095	missense variant	C/A;T	snv			18
rs148924904	TP53	0.724	0.360	17	7675124	missense variant	T/C	snv		7.0E-06	17
rs587780073	TP53	0.708	0.400	17	7674262	missense variant	T/C;G	snv			17
rs864622237	TP53	0.716	0.320	17	7674263	missense variant	A/C;G;T	snv			17
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		16
rs985033810	TP53	0.724	0.280	17	7674232	missense variant	C/A;G;T	snv			16
rs121912655	TP53	0.724	0.400	17	7674238	missense variant	C/A;G;T	snv			15
rs587781288	TP53	0.732	0.440	17	7675190	missense variant	C/A;T	snv			15
rs876659802	TP53	0.732	0.440	17	7673787	missense variant	G/A;C;T	snv			15
rs41293497	BRCA2	0.724	0.440	13	32340037	stop gained	C/A;G;T	snv	4.0E-06; 2.0E-05		14
rs587782664	TP53	0.742	0.320	17	7674252	missense variant	C/A;G;T	snv	4.0E-06		14
rs730882025	TP53	0.724	0.360	17	7674885	missense variant	C/A;G;T	snv			14
rs80358920	BRCA2	0.732	0.400	13	32346841	stop gained	C/G;T	snv			12
rs121913294	PTEN	0.776	0.280	10	87952143	missense variant	G/A;C;T	snv	8.0E-06		11
rs587776650	NBN	0.790	0.280	8	89971214	frameshift variant	GTTTT/-	delins		2.0E-04	11
rs587782177	TP53	0.763	0.200	17	7674887	missense variant	C/A;G;T	snv			11
rs80358721	BRCA2	0.724	0.320	13	32339320	stop gained	C/A;G;R	snv	4.2E-06		11
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs137852986	BRIP1	0.732	0.440	17	61716051	stop gained	G/A	snv	1.7E-04	1.5E-04	9
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		9
rs398123318	PTEN	0.776	0.240	10	87925558	splice region variant	AGTA/-	delins			9
rs80356898	BRCA1	0.752	0.200	17	43093844	stop gained	G/A;C	snv	2.8E-05; 4.0E-06		9
rs80358785	BRCA2	0.790	0.240	13	32340000	stop gained	C/A;G	snv	1.6E-05		9
rs398123316	PTEN	0.851	0.160	10	87925530	missense variant	A/G;T	snv			8
rs80356962	BRCA1	0.807	0.200	17	43047666	stop gained	C/G;T	snv	4.0E-06	7.0E-06	8