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
rs75184679	RNASEH2B	0.776	0.360	13	50945445	missense variant	G/A	snv	1.4E-03	1.4E-03	16
rs1555649483	BPTF	0.851	0.200	17	67909751	splice donor variant	GAAGGACCAAGG/-	del			12