DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Cardiomyopathy, Familial Idiopathic ×

Variants associated to the Gene: ACE ×

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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
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs145579007	ACE	0.925	0.080	17	63496503	missense variant	G/A	snv	1.0E-04	1.0E-04	2
rs750712925	ACE	0.925	0.080	17	63477227	missense variant	G/A;C;T	snv	3.2E-05		2