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
rs1060826	NOS2	0.851	0.160	17	27762841	synonymous variant	T/C	snv	0.66	0.67	4
rs2255929	NOS2	1.000	0.040	17	27760941	intron variant	T/A	snv		0.49	1