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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1452020002	ERBB4	1.000	0.080	2	211947467	missense variant	G/C;T	snv			1
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs4872077	TNFRSF10A	1.000	0.080	8	23200675	intron variant	T/A;C	snv	0.29		1
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121913247	MET	0.882	0.200	7	116783359	missense variant	T/C	snv			3
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs397517096	EGFR	0.851	0.120	7	55174776	missense variant	TT/CC	mnv			4