DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Muscular Dystrophy, Duchenne ×

Variants associated to the Gene: DMD ×

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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
rs104894790	DMD	0.925	0.160	X	31178751	stop gained	G/A	snv			1
rs398122853	DMD	0.882	0.160	X	33211304	stop gained	C/T	snv			1