DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Cerebrovascular accident ×

Variants associated to the Gene: EDN1 ×

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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
rs5370	EDN1	0.630	0.520	6	12296022	missense variant	G/T	snv	0.23	0.21	37
rs10478723	EDN1			6	12295228	intron variant	G/A	snv		0.15	1
rs1800542	EDN1			6	12292295	intron variant	G/A	snv	5.6E-02	0.11	1