Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894270
rs104894270
T 0.800 GeneticVariation CLINVAR A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060

2018

dbSNP: rs104894270
rs104894270
0.800 GeneticVariation UNIPROT A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060

2018

dbSNP: rs28939714
rs28939714
0.800 GeneticVariation UNIPROT A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060

2018

dbSNP: rs104894270
rs104894270
0.800 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012

dbSNP: rs104894270
rs104894270
T 0.800 GeneticVariation CLINVAR Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012

dbSNP: rs28939714
rs28939714
0.800 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012

dbSNP: rs104894270
rs104894270
0.800 GeneticVariation UNIPROT Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820

2004

dbSNP: rs104894270
rs104894270
T 0.800 GeneticVariation CLINVAR Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820

2004

dbSNP: rs28939714
rs28939714
0.800 GeneticVariation UNIPROT Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820

2004

dbSNP: rs28939714
rs28939714
T 0.800 GeneticVariation CLINVAR Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820

2004

dbSNP: rs104894270
rs104894270
T 0.800 CausalMutation CLINVAR

dbSNP: rs28939714
rs28939714
T 0.800 CausalMutation CLINVAR

dbSNP: rs142248674
rs142248674
0.700 GeneticVariation UNIPROT A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060

2018

dbSNP: rs142248674
rs142248674
0.700 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348

2012

dbSNP: rs142248674
rs142248674
0.700 GeneticVariation UNIPROT Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820

2004