DisGeNET - a database of gene-disease associations

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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
rs766476013	MCPH1	1.000	0.120	8	6409342	missense variant	C/G	snv	1.6E-05	7.0E-06	1
rs1455698435	AGMO	1.000	0.120	7	15385551	frameshift variant	T/-	delins	8.0E-06	1.4E-05	1