Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853184
rs137853184
NDUFAF6
CUI: C4748786
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 		0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
dbSNP: rs137853184
rs137853184
NDUFAF6
CUI: C4748786
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. 22019594

2011
dbSNP: rs137853184
rs137853184
NDUFAF6
CUI: C4748786
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 		0.800 GeneticVariation UNIPROT A mitochondrial protein compendium elucidates complex I disease biology. 18614015

2008