Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519084
rs1057519084
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016

dbSNP: rs1057519085
rs1057519085
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016

dbSNP: rs1057519086
rs1057519086
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016

dbSNP: rs201732170
rs201732170
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016

dbSNP: rs768273248
rs768273248
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016

dbSNP: rs137853184
rs137853184
0.700 GeneticVariation UNIPROT Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. 22019594

2012

dbSNP: rs137853184
rs137853184
0.700 GeneticVariation UNIPROT A mitochondrial protein compendium elucidates complex I disease biology. 18614015

2008