DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Coronary Artery Disease ×

Variants associated to the Gene: LPL ×

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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
rs15285	LPL	1.000	0.040	8	19967156	3 prime UTR variant	C/T	snv		0.36	5
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	3
rs328	LPL	0.732	0.440	8	19962213	stop gained	C/G	snv	9.2E-02	9.0E-02	3
rs264	LPL	0.882	0.080	8	19955669	intron variant	G/A	snv		0.14	2
rs6997330	LPL	1.000	0.040	8	19943018	intron variant	G/A;C	snv			1
rs7011846	LPL	1.000	0.040	8	19928145	intron variant	G/A	snv		0.10	1