DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Li-Fraumeni-Like Syndrome ×

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
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		1
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06		1
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			1
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	1