DisGeNET - a database of gene-disease associations

List of associated variants

Leukodystrophy, C0023520

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
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs1555384318	GALC	0.925	0.120	14	87992971	missense variant	C/T	snv			2