DisGeNET - a database of gene-disease associations

List of shared variants

Muscular Dystrophy, Facioscapulohumeral, C0238288

Disease: FRONTOMETAPHYSEAL DYSPLASIA 1

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
rs137853312	FLNA	0.790	0.160	X	154360238	missense variant	G/A	snv		9.3E-06	7
rs137853316	FLNA	0.851	0.160	X	154354860	missense variant	C/A	snv			4