DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Breast 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
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		13
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs2287499	WRAP53 ; TP53	0.925	0.080	17	7688850	missense variant	C/G;T	snv	0.20		4
rs1800372	TP53	0.752	0.240	17	7674892	synonymous variant	T/A;C	snv	1.3E-02		15
rs1800371	TP53	0.742	0.240	17	7676230	missense variant	G/A;T	snv	1.2E-03		15
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05		21
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		78
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		44
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		44
rs372201428	TP53	0.882	0.120	17	7676181	missense variant	G/A;C	snv	1.2E-05		3
rs375275361	TP53	0.827	0.120	17	7675054	missense variant	A/G;T	snv	1.2E-05; 4.0E-06		5
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs1064794312	TP53	0.925	0.080	17	7674278	missense variant	A/G	snv	8.0E-06		2
rs1288373809	TP53	0.882	0.120	17	7673255	synonymous variant	G/A	snv	5.3E-06		5
rs587782646	TP53	0.925	0.080	17	7676576	missense variant	C/G	snv	4.0E-06		2
rs779196500	TP53	0.882	0.120	17	7675187	missense variant	G/A	snv	4.0E-06		5
rs587782144	TP53	0.807	0.160	17	7675139	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		8
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
rs587781858	TP53	0.742	0.360	17	7669671	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		12
rs1177881399	TP53	0.925	0.080	17	7673557	missense variant	T/C	snv	4.0E-06		2
rs1159579789	TP53	0.925	0.080	17	7673578	missense variant	T/C	snv	4.0E-06		3
rs397516435	TP53	0.851	0.280	17	7674945	stop gained	G/A;C	snv	4.0E-06		6
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214