DisGeNET - a database of gene-disease associations

Source: ALL

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	Num. diseases
rs1000256867	TP53			17	7673550	missense variant	T/A;G	snv	4.0E-06	1
rs1057517983	TP53	1.000	0.120	17	7674232	missense variant	C/A;G;T	snv		1
rs1057519976	TP53			17	7675207	missense variant	G/A;C	snv		1
rs1057519980	TP53	1.000		17	7675084	missense variant	G/C	snv		1
rs1057519982	TP53	1.000	0.080	17	7674239	missense variant	A/C;G;T	snv		1
rs1057522275	TP53			17	7674246	missense variant	G/A;C	snv		1
rs1060501194	TP53	1.000	0.120	17	7673830	frameshift variant	G/-	del		1
rs1060501195	TP53			17	7676056	missense variant	C/G;T	snv		1
rs1060501197	TP53	1.000	0.120	17	7674247	frameshift variant	T/-	delins		1
rs1060501199	TP53	1.000	0.120	17	7673577	missense variant	C/A;T	snv		1
rs1060501206	TP53			17	7675056	missense variant	C/T	snv	8.0E-06	1
rs1060501207	TP53	1.000	0.120	17	7673839	splice acceptor variant	T/C	snv		1
rs1060501212	TP53	1.000	0.120	17	7674973	splice acceptor variant	TAA/-	del		1
rs1064792930	TP53	1.000	0.120	17	7675152	frameshift variant	CGGGCGGGGGTGT/-	del		1
rs1064794309	TP53	1.000	0.120	17	7674197	inframe deletion	ATG/-	delins		1
rs1064794311	TP53	1.000	0.040	17	7674214	missense variant	G/A	snv		1
rs1064795860	TP53	1.000	0.080	17	7675155	missense variant	G/A	snv		1
rs1064796681	TP53	1.000	0.120	17	7675091	missense variant	C/T	snv		1
rs1064796722	TP53	1.000	0.120	17	7676043	missense variant	A/C;G	snv		1
rs1131691005	TP53			17	7670691	frameshift variant	T/-	del		1
rs1131691008	TP53			17	7670659	frameshift variant	AG/-	delins		1
rs1131691010	TP53			17	7676120	frameshift variant	GC/-	delins		1
rs1131691011	TP53			17	7674932	frameshift variant	T/-	delins		1
rs1131691013	TP53			17	7675223	missense variant	A/G	snv		1
rs1131691015	TP53			17	7676379	splice donor variant	-/A	delins		1