DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Liver carcinoma ×

Variants associated to the Gene: TP53 ×

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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
rs28934874	TP53	0.695	0.480	17	7675161	missense variant	G/A;C;T	snv			1
rs1064793929	TP53	0.882	0.280	17	7675167	frameshift variant	A/-;AA	delins			4
rs779196500	TP53	0.882	0.120	17	7675187	missense variant	G/A	snv	4.0E-06		5
rs587781991	TP53	0.724	0.240	17	7675208	missense variant	C/A;T	snv			3
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			21
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			213
rs754332870	TP53	0.790	0.240	17	7676240	missense variant	C/G	snv	4.0E-06		9