DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Malignant neoplasm of ovary ×

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			213
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		20
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			9
rs1131691022	TP53	0.827	0.160	17	7670685	frameshift variant	GG/A;G	delins			4
rs1321845532	TP53	0.851	0.160	17	7670685	frameshift variant	GG/A;G	delins			4
rs876660754	TP53	0.701	0.360	17	7675095	missense variant	C/A;T	snv			4
rs2287498	WRAP53 ; TP53	0.882	0.120	17	7689242	synonymous variant	C/T	snv	0.13	0.14	4
rs2287497	WRAP53 ; TP53	0.882	0.120	17	7689462	intron variant	G/A	snv		0.25	3