DisGeNET - a database of gene-disease associations

Source: CLINVAR ×

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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	Num. diseases
rs137852890	GBE1	0.925	0.120	3	81536940	stop gained	C/A;T	snv		2
rs137852894	GBE1	0.925	0.120	3	81537071	stop gained	C/T	snv	1.1E-05	2
rs397515344	GBE1	0.925	0.120	3	81648851	splice region variant	C/G	snv		2