DisGeNET - a database of gene-disease associations

List of associated variants

Gangliosidoses, GM2, C0268274

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
rs121907954	HEXA	0.807	0.120	15	72350518	missense variant	C/G;T	snv	1.3E-04		6
rs756533874	FCGRT	0.925	0.120	19	49524707	missense variant	G/A	snv	4.1E-06		2
rs121907958	HEXA	0.925	0.120	15	72346597	missense variant	C/G	snv	8.0E-06	2.8E-05	2
rs199578185	HEXA	0.925	0.120	15	72349181	missense variant	T/C	snv	8.0E-06	7.0E-06	2
rs138058578	HEXA	1.000	0.120	15	72350578	missense variant	G/A	snv	1.9E-04	1.8E-04	1