DisGeNET - a database of gene-disease associations

List of associated variants

Li-Fraumeni-Like Syndrome, C2675080

Source: CLINVAR ×

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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
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06		27
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			25
rs121912655	TP53	0.724	0.400	17	7674238	missense variant	C/A;G;T	snv			15
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		7
rs730882018	TP53	0.851	0.320	17	7676153	frameshift variant	G/-;GG	delins			5
rs121912658	TP53	0.925	0.200	17	7676011	stop gained	T/A;C;G	snv			2