DisGeNET - a database of gene-disease associations

List of associated variants

Adenocarcinoma of lung, stage IV, C0854988

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
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
rs121913444	EGFR	0.724	0.160	7	55191831	missense variant	T/A;C;G	snv			18
rs397517096	EGFR	0.851	0.120	7	55174776	missense variant	TT/CC	mnv			4
rs149248025	EGFR	1.000		7	55201237	missense variant	G/A;T	snv	8.0E-05; 8.0E-06		1