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
rs20417	PACERR ; PTGS2	0.576	0.600	1	186681189	non coding transcript exon variant	C/G;T	snv			57
rs689470	PTGS2	0.776	0.240	1	186671926	3 prime UTR variant	G/A;C;T	snv			9