DisGeNET - a database of gene-disease associations

List of shared variants

Muscular Dystrophy, C0026850

Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14

Source: ALL

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
rs142336618	GMPPB	0.827	0.120	3	49723648	missense variant	C/G	snv	4.5E-06; 7.0E-04	5.3E-04	5
rs142908436	GMPPB	0.851	0.120	3	49722057	missense variant	G/A;T	snv	1.0E-04; 1.2E-05		4