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	Num. diseases
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins		51
rs1555575860	COG4	0.732	0.240	16	70496367	missense variant	C/G;T	snv		31
rs387907196	EXOSC3	0.807	0.080	9	37784953	missense variant	C/G	snv	2.0E-05	12