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
rs17725246	NPC1L1			7	44542387	upstream gene variant	T/A;C	snv			3
rs2072183	NPC1L1	0.925	0.040	7	44539581	synonymous variant	G/A;C	snv	4.0E-06; 0.25		3