DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Charcot-Marie-Tooth Disease ×

Variants associated to the Gene: AARS1 ×

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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
rs267606621	AARS1	0.882	0.080	16	70268356	missense variant	C/T	snv			3
rs797044801	AARS1	1.000	0.080	16	70254688	missense variant	T/G	snv			1