DisGeNET - a database of gene-disease associations

Source: ALL

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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
rs138119149	AARS2 ; TMEM151B	0.807	0.280	6	44304512	missense variant	G/A	snv	2.1E-04	2.4E-04	11
rs587777589	AARS2	0.851	0.280	6	44311095	frameshift variant	-/C	delins			7