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
rs2071286	NOTCH4	0.752	0.280	6	32212119	intron variant	C/T	snv		0.17	12
rs9461776	HLA-DRB1	0.763	0.240	6	32607958	intergenic variant	A/G	snv		8.8E-02	11