Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894884
rs104894884
NDUFA1 ; RNF113A
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 		0.800 GeneticVariation UNIPROT X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856

2007