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
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		37
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		16
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		7
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			25
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			26
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06		24
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06		27
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		20
rs121909231	PTEN	0.667	0.600	10	87961095	stop gained	C/A;T	snv			29
rs28934573	TP53	0.667	0.480	17	7674241	missense variant	G/A;C;T	snv	4.0E-06		24
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05		25
rs121909229	PTEN	0.683	0.400	10	87933148	missense variant	G/A;C;T	snv			23
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		3
rs587780070	TP53	0.683	0.320	17	7675077	missense variant	G/A;C;T	snv	4.0E-06		23
rs786201838	TP53	0.683	0.440	17	7674953	missense variant	T/A;C;G	snv			23
rs1057519981	TP53	0.689	0.440	17	7674251	missense variant	A/C;G;T	snv			20
rs121909219	PTEN	0.689	0.400	10	87957915	stop gained	C/A;T	snv			24
rs193920774	TP53	0.695	0.440	17	7673823	missense variant	C/A;T	snv			21
rs28934874	TP53	0.695	0.480	17	7675161	missense variant	G/A;C;T	snv			21
rs730882005	TP53	0.701	0.400	17	7674250	missense variant	C/A;G;T	snv	8.0E-06		20