DisGeNET - a database of gene-disease associations

List of shared variants

Adenocarcinoma of lung (disorder), C0152013

Disease: Li-Fraumeni Syndrome

Source: ALL

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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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67	242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv		213
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06	96
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06	79
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05	78
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv		73
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv		72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv		72
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05	57
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06	53
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv		51
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05	44
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv		37
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06	34
rs397516436	TP53	0.641	0.440	17	7674894	stop gained	G/A;C	snv		34
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv		32
rs28934574	TP53	0.658	0.440	17	7673776	missense variant	G/A;C	snv	4.0E-06	31
rs587778720	TP53	0.667	0.360	17	7674893	missense variant	C/A;G;T	snv	4.0E-06	31
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06	28
rs28934573	TP53	0.667	0.480	17	7674241	missense variant	G/A;C;T	snv	4.0E-06	28
rs138729528	TP53	0.677	0.480	17	7675089	missense variant	G/A;C	snv	1.6E-05	25
rs764146326	TP53	0.662	0.480	17	7673779	missense variant	C/A;G;T	snv	4.0E-06	25
rs121912657	TP53	0.683	0.480	17	7673806	missense variant	C/A;G;T	snv	4.0E-06	24
rs587780070	TP53	0.683	0.320	17	7675077	missense variant	G/A;C;T	snv	4.0E-06	24