DisGeNET - a database of gene-disease associations

List of shared variants

Tay-Sachs Disease, C0039373

Disease: Gangliosidoses

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
rs121907981	HEXA	0.882	0.120	15	72345550	missense variant	C/G	snv	1.2E-05	7.0E-06	3