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
rs689466	PACERR ; PTGS2	0.637	0.640	1	186681619	upstream gene variant	T/C	snv		0.17	33
rs5273	PTGS2	0.827	0.080	1	186674636	missense variant	A/C;G	snv	4.0E-06; 7.6E-03	1.4E-02	6