DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME ×

Variants associated to the Gene: SERAC1 ×

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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
rs1554261079	SERAC1	1.000		6	158114896	missense variant	C/T	snv			1
rs201941476	SERAC1	1.000		6	158116193	missense variant	C/G	snv	2.4E-05	2.8E-05	1