DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Malignant tumor of colon ×

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
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			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			32
rs1131691021	TP53	0.716	0.120	17	7675097	missense variant	A/C;G	snv			21
rs587782705	TP53	0.807	0.280	17	7675157	missense variant	G/A	snv	8.0E-06		8
rs1131691029	TP53	0.827	0.160	17	7673794	missense variant	C/G	snv			6
rs1064795841	TP53	0.882	0.080	17	7674971	missense variant	C/T	snv			4