DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathy, Hypertrophic, Familial ×

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
rs193922680	ACTC1 ; LOC101928174	0.790	0.080	15	34793398	missense variant	C/T	snv	4.0E-06	7.0E-06	7
rs193922681	LOC101928174 ; ACTC1	1.000	0.080	15	34794742	missense variant	A/G	snv			1