DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasms, C0027651

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
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		39
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		37
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		29
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			25
rs121909229	PTEN	0.683	0.400	10	87933148	missense variant	G/A;C;T	snv			23
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		16
rs75996173	RET	0.716	0.240	10	43114501	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06		10
rs121913315	STK11	0.882	0.160	19	1220488	missense variant	G/A;T	snv			5
rs121913304	RB1 ; LOC112268118	0.925	0.080	13	48381414	stop gained	C/T	snv			4
rs786202724	MET	0.925	0.120	7	116777403	missense variant	G/A	snv		7.0E-06	4
rs121913324	STK11	1.000	0.160	19	1207022	stop gained	C/T	snv			3
rs121913381	CDKN2A			9	21971037	missense variant	C/A;T	snv			2