DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathy, Dilated ×

Variants associated to the Gene: ACTC1 ×

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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
rs397517065	ACTC1 ; LOC101928174			15	34792471	missense variant	G/A	snv			2
rs397517071	ACTC1 ; LOC101928174	1.000	0.040	15	34792092	missense variant	A/G	snv			2
rs727504379	ACTC1 ; LOC101928174	1.000	0.040	15	34791238	missense variant	A/G	snv			2