DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Leigh Disease ×

Variants associated to the Gene: POLG ×

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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
rs113994098	POLG	0.742	0.320	15	89321792	missense variant	C/T	snv	1.5E-04	2.7E-04	4
rs113994093	POLG	1.000	0.120	15	89330241	missense variant	C/T	snv	1.2E-05	1.4E-05	1