DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Brain Stem Glioma ×

Variants associated to the Gene: EGFR ×

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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
rs1057519888	EGFR	0.925	0.080	7	55143386	missense variant	A/G	snv			3
rs139236063	EGFR	0.925	0.080	7	55165350	missense variant	G/C;T	snv			3