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
rs730880299	DCDC2	0.925		6	24290987	stop gained	T/A	snv			2
rs757704417	KAAG1 ; DCDC2	0.925		6	24357627	frameshift variant	AC/-	delins	1.6E-05	7.0E-06	2