DisGeNET - a database of gene-disease associations

Disease: Overgrowth

Source: CLINVAR ×

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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	Num. diseases
rs886041065	ASXL2	0.677	0.600	2	25743913	frameshift variant	G/-	delins	43
rs587784177	NSD1	0.790	0.280	5	177283827	missense variant	G/A	snv	20
rs61752992	MECP2	0.807	0.120	X	154030621	splice acceptor variant	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/-	delins	9