DisGeNET - a database of gene-disease associations

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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
rs121909752	SEPT5-GP1BB ; GP1BB ; SEPTIN5	0.925	0.080	22	19723980	stop gained	G/A;C	snv	7.5E-06		4
rs730882059	GP1BB ; SEPT5-GP1BB ; SEPTIN5	1.000	0.080	22	19723410	3 prime UTR variant	C/G	snv	7.6E-06	7.0E-06	1