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	AF GENOME	Num. diseases
rs80338671	GBE1	0.851	0.120	3	81642787	missense variant	T/C;G	snv	4.5E-04; 3.2E-04		5
rs192044702	GBE1	0.882	0.120	3	81648854	splice donor variant	A/G	snv	8.9E-04	7.7E-04	3