Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800 GeneticVariation UNIPROT High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010

dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800 GeneticVariation UNIPROT De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. 14705112

2004

dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800 GeneticVariation UNIPROT Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. 11456298

2001