DisGeNET - a database of gene-disease associations

Source: BEFREE

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
rs587781858	TP53	0.742	0.360	17	7669671	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		12
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		11
rs1625895	TP53	0.752	0.200	17	7674797	non coding transcript exon variant	T/A;C;G	snv	9.1E-06; 0.86; 4.5E-06		10
rs754332870	TP53	0.790	0.240	17	7676240	missense variant	C/G	snv	4.0E-06		9
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		9
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv			9
rs17849781	TP53	0.701	0.480	17	7673788	missense variant	G/A;C;T	snv			8
rs563378859	TP53	0.851	0.320	17	7675146	missense variant	G/A	snv	4.0E-06	2.1E-05	8
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv			8
rs12947788	TP53	0.776	0.280	17	7674109	intron variant	G/A	snv		0.10	8
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06		8
rs121912665	TP53	1.000	0.120	17	7674965	missense variant	G/A	snv	2.4E-05	7.0E-06	7
rs371409680	TP53	0.790	0.120	17	7673772	missense variant	C/G;T	snv	4.0E-05	7.0E-06	7
rs750893877	TP53	0.807	0.320	17	7674258	synonymous variant	G/A	snv	8.0E-06		7
rs1131691036	TP53	0.851	0.080	17	7675207	frameshift variant	GCA/CC	delins			7
rs587778720	TP53	0.667	0.360	17	7674893	missense variant	C/A;G;T	snv	4.0E-06		7
rs730882025	TP53	0.724	0.360	17	7674885	missense variant	C/A;G;T	snv			7
rs587782329	TP53	0.677	0.280	17	7674217	missense variant	C/A;G;T	snv			7
rs1057519747	TP53	0.716	0.280	17	7675094	missense variant	A/C;G;T	snv			6
rs770374782	TP53	0.851	0.160	17	7673752	missense variant	G/A;C	snv	1.2E-05	4.2E-05	6
rs587782529	TP53	0.851	0.200	17	7670700	missense variant	G/A;C	snv			6
rs1642785	TP53	0.807	0.200	17	7676483	5 prime UTR variant	G/A;C;T	snv	1.2E-05; 0.67; 2.8E-05		6
rs730882002	TP53	0.925	0.040	17	7674956	missense variant	T/C	snv			6
rs9895829	TP53	0.807	0.080	17	7675361	5 prime UTR variant	A/G	snv		7.4E-02	6
rs55832599	TP53	0.716	0.360	17	7673821	missense variant	G/A	snv			5