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
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv			55
rs5277	PACERR ; PTGS2	0.790	0.160	1	186679065	synonymous variant	C/G;T	snv	0.12; 8.0E-06		9