DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX ×

Variants associated to the Gene: TIMM50 ×

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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
rs1244226820	TIMM50	1.000		19	39485761	missense variant	C/T	snv	4.0E-06		1
rs1300848445	TIMM50	1.000		19	39485570	missense variant	C/T	snv	8.0E-06		1