Gene: SCO1 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894630
rs104894630
SCO1
0.800 GeneticVariation UNIPROT Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1. 19336478

2009
dbSNP: rs104894630
rs104894630
SCO1
0.800 GeneticVariation UNIPROT Human Sco1 functional studies and pathological implications of the P174L mutant. 17182746

2007
dbSNP: rs104894630
rs104894630
SCO1
0.800 GeneticVariation UNIPROT The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. 17189203

2007
dbSNP: rs104894630
rs104894630
SCO1
0.800 GeneticVariation UNIPROT Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. 11013136

2000