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
rs1553763618	POLR3GL	0.925	0.040	1	145977482	splice acceptor variant	G/A	snv			4
rs782661984	POLR3GL	0.925	0.040	1	145974824	splice acceptor variant	G/A	snv	2.3E-05	1.4E-05	4