DisGeNET - a database of gene-disease associations

List of associated variants

Mucoepidermoid Carcinoma, C0206694

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
rs3748522	RAD52	0.925	0.080	12	949522	5 prime UTR variant	A/C	snv		0.49	2
rs13180356	XRCC4	0.925	0.080	5	83100055	intron variant	C/T	snv		0.18	2