DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 ×

Variants associated to the Gene: AARS1 ×

Results per page

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
rs143370729	AARS1	1.000		16	70255763	missense variant	T/C	snv	4.8E-05	4.2E-05	1
rs786205157	AARS1	1.000		16	70277057	missense variant	T/G	snv		7.0E-06	1
rs369774476	EXOSC6 ; AARS1	1.000		16	70252890	missense variant	C/T	snv	2.4E-05	1.4E-05	1