DisGeNET - a database of gene-disease associations

List of associated variants

Secondary malignant neoplasm of liver, C0494165

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
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs1057519803	ERBB3	0.925	0.080	12	56088138	missense variant	G/A	snv			4
rs1057519909	MAP2K1	0.790	0.240	15	66435116	missense variant	A/C	snv			7
rs879253942	TP53	0.677	0.400	17	7673826	missense variant	A/G	snv			28
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
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
rs765433422	PTEN	0.807	0.160	10	87952250	stop gained	G/A;T	snv	8.0E-06	7.0E-06	7
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147