DisGeNET - a database of gene-disease associations

Disease: Overgrowth

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
rs1566446604	CHD8	0.882	0.080	14	21431511	frameshift variant	GAGAGCTTGGCAGTCCA/-	delins			6