DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: X-Linked Emery-Dreifuss Muscular Dystrophy ×

Variants associated to the Gene: EMD ×

Results per page

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
rs104894805	EMD	1.000	0.120	X	154380980	missense variant	C/A;T	snv			1
rs104894806	EMD	1.000	0.120	X	154380979	missense variant	C/A	snv			1