DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathy, Dilated ×

Variants associated to the Gene: TNNI3 ×

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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
rs397516352	TNNI3			19	55154115	missense variant	A/G	snv			1
rs397516355	TNNI3			19	55154035	stop gained	C/A;T	snv			1
rs397516356	TNNI3			19	55151917	missense variant	C/T	snv			1