DisGeNET - a database of gene-disease associations

List of shared variants

Li-Fraumeni Syndrome, C0085390

Disease: Breast Carcinoma

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	AF GENOME	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
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
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
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	40
rs78378222	TP53	0.662	0.360	17	7668434	3 prime UTR variant	T/G	snv		8.3E-03	37
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			32
rs879253942	TP53	0.677	0.400	17	7673826	missense variant	A/G	snv			28
rs1057519981	TP53	0.689	0.440	17	7674251	missense variant	A/C;G;T	snv			22
rs17849781	TP53	0.701	0.480	17	7673788	missense variant	G/A;C;T	snv			22
rs372043866	ERBB2	0.732	0.240	17	39727965	missense variant	G/A;C;T	snv	3.2E-05; 2.4E-05; 1.2E-05		18
rs2043556	PRKG1 ; MIR605	0.716	0.440	10	51299646	non coding transcript exon variant	T/C	snv	0.25	0.24	17
rs137853007	CHEK2	0.790	0.240	22	28725254	missense variant	G/A;T	snv	5.2E-05		9
rs587782144	TP53	0.807	0.160	17	7675139	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		8
rs587782596	TP53	0.807	0.200	17	7675071	missense variant	G/A;T	snv			7