DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Primary malignant neoplasm of lung ×

Variants associated to the Gene: PTGS2 ×

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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
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv			55
rs689466	PACERR ; PTGS2	0.637	0.640	1	186681619	upstream gene variant	T/C	snv		0.17	33
rs2066826	PTGS2	0.851	0.160	1	186676795	intron variant	C/T	snv	0.14	0.19	4
rs200479241	PTGS2	0.882	0.080	1	186676073	missense variant	T/C	snv		2.1E-05	3