DisGeNET - a database of gene-disease associations

List of associated variants

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5, C4310748

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
rs879255639	FLNC	0.882	0.040	7	128848926	missense variant	C/T	snv			3
rs879255640	FLNC-AS1 ; FLNC	0.882	0.040	7	128853831	missense variant	A/T	snv			3