DisGeNET - a database of gene-disease associations

List of associated variants

Secondary malignant neoplasm of liver, C0494165

Source: BEFREE ×

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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
rs4872077	TNFRSF10A	1.000	0.080	8	23200675	intron variant	T/A;C	snv	0.29		1
rs756090401	APC	1.000	0.080	5	112835036	missense variant	A/G	snv	8.0E-06	1.4E-05	1
rs773197447	FGFR3	1.000	0.080	4	1807159	missense variant	G/A;C	snv	3.2E-05; 2.3E-05		1
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
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
rs397517096	EGFR	0.851	0.120	7	55174776	missense variant	TT/CC	mnv			4
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			213