Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142609245
rs142609245
NDUFB3
CUI: C4748806
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 		0.800 GeneticVariation UNIPROT A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. 27091925

2016
dbSNP: rs142609245
rs142609245
NDUFB3
CUI: C4748806
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 		0.800 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012