DisGeNET - a database of gene-disease associations

List of shared variants

Restrictive cardiomyopathy, C0007196

Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26

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
rs1114167361	FLNC	0.827	0.160	7	128845022	missense variant	C/T	snv			6
rs1131692185	FLNC	0.882	0.040	7	128845012	missense variant	GC/CT	mnv			3