DisGeNET - a database of gene-disease associations

List of associated variants

Adenocarcinoma of small intestine, C0278803

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
rs1057519738	MIR4728 ; ERBB2	0.790	0.160	17	39725079	missense variant	G/A	snv	4.0E-06		10
rs866679558	MIR4728 ; ERBB2	1.000	0.080	17	39724825	missense variant	T/C	snv			1