DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Dilatation of the ventricular cavity ×

Variants associated to the Gene: MYH7 ×

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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
rs760187215	MYH7	1.000	0.040	14	23431859	missense variant	C/T	snv	8.0E-06		6
rs1060501439	MYH7	0.925	0.080	14	23424938	missense variant	T/A	snv			4