DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Cardiomyopathies ×

Variants associated to the Gene: AARS2 ×

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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
rs369566535	AARS2 ; TMEM151B			6	44304659	missense variant	G/A;C	snv	3.6E-05; 2.8E-05		1