DisGeNET - a database of gene-disease associations

List of shared variants

Cardiomyopathy, Hypertrophic, Familial, C0949658

Disease: Restrictive cardiomyopathy

Source: ALL

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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
rs104894724	TNNI3	0.790	0.120	19	55154146	missense variant	G/A;C	snv	4.0E-06		8
rs727503504	TNNI3	0.807	0.080	19	55154071	missense variant	G/A;C	snv			6
rs104894729	TNNI3	0.827	0.080	19	55151892	missense variant	C/A;G;T	snv			5
rs727503503	TNNI3	0.827	0.120	19	55154070	missense variant	C/T	snv			5
rs727503260	MYH7	0.851	0.080	14	23425403	missense variant	C/G;T	snv			4