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
rs1425998598	BPTF	0.763	0.240	17	67918802	missense variant	G/A;C	snv	1.2E-05		19
rs1555652383	BPTF	0.807	0.160	17	67912720	frameshift variant	TG/-	delins			13