DisGeNET - a database of gene-disease associations

List of associated variants

Metachromatic leukodystrophy, juvenile type, C0751276

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
rs28940893	ARSA	0.827	0.160	22	50625392	missense variant	G/A	snv	3.9E-04	3.6E-04	6
rs74315457	ARSA	0.851	0.160	22	50626976	missense variant	A/C	snv	2.3E-04	2.8E-04	6
rs80338815	ARSA	0.882	0.120	22	50627165	splice donor variant	C/T	snv	6.5E-04	4.5E-04	3
rs74315485	ARSA	0.925	0.120	22	50625396	missense variant	G/A;T	snv			2
rs80338820	ARSA	0.925	0.120	22	50625578	splice donor variant	C/A;T	snv	4.0E-06; 4.0E-06		2