DisGeNET - a database of gene-disease associations

List of shared variants

Restrictive cardiomyopathy, C0007196

Disease: Cardiomyopathy, Familial Hypertrophic, 13

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
rs267607124	TNNC1	0.807	0.080	3	52451410	missense variant	G/A;C;T	snv	4.0E-05; 4.0E-06; 1.3E-04		6
rs267607125	TNNC1 ; NISCH	0.851	0.080	3	52453993	missense variant	G/A	snv		7.0E-06	4