Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894270
rs104894270
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
T 0.800 GeneticVariation CLINVAR A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
dbSNP: rs104894270
rs104894270
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.800 GeneticVariation UNIPROT A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
dbSNP: rs28939714
rs28939714
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.800 GeneticVariation UNIPROT A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
dbSNP: rs104894270
rs104894270
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.800 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
dbSNP: rs104894270
rs104894270
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
T 0.800 GeneticVariation CLINVAR Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
dbSNP: rs28939714
rs28939714
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.800 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
dbSNP: rs104894270
rs104894270
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.800 GeneticVariation UNIPROT Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
dbSNP: rs104894270
rs104894270
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
T 0.800 GeneticVariation CLINVAR Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
dbSNP: rs28939714
rs28939714
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.800 GeneticVariation UNIPROT Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
dbSNP: rs28939714
rs28939714
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
T 0.800 GeneticVariation CLINVAR Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
dbSNP: rs104894270
rs104894270
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
T 0.800 CausalMutation CLINVAR
dbSNP: rs28939714
rs28939714
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
T 0.800 CausalMutation CLINVAR
dbSNP: rs144915398
rs144915398
Entrez Id: 4722;55709
Gene Symbol: NDUFS3;KBTBD4
NDUFS3;KBTBD4
CUI: C1861172
Disease:
Venous Thromboembolism
0.700 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs11605348
rs11605348
Entrez Id: 4722;399888
Gene Symbol: NDUFS3;FAM180B
NDUFS3;FAM180B
CUI: C0021704
Disease:
Intelligence
A 0.700 GeneticVariation GWASCAT Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. 29942086 2018
dbSNP: rs142248674
rs142248674
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.700 GeneticVariation UNIPROT A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
dbSNP: rs11605348
rs11605348
Entrez Id: 4722;399888
Gene Symbol: NDUFS3;FAM180B
NDUFS3;FAM180B
CUI: C0005890
Disease:
Body Height
A 0.700 GeneticVariation GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
dbSNP: rs11537751
rs11537751
Entrez Id: 4722;10658;114971
Gene Symbol: NDUFS3;CELF1;PTPMT1
NDUFS3;CELF1;PTPMT1
CUI: C0020538
Disease:
Hypertensive disease
T 0.700 GeneticVariation GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016
dbSNP: rs142248674
rs142248674
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.700 GeneticVariation UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
dbSNP: rs144915398
rs144915398
Entrez Id: 4722;55709
Gene Symbol: NDUFS3;KBTBD4
NDUFS3;KBTBD4
CUI: C0042487
Disease:
Venous Thrombosis
0.700 GeneticVariation GWASDB Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis. 22675575 2012
dbSNP: rs2280231
rs2280231
Entrez Id: 4722;55709
Gene Symbol: NDUFS3;KBTBD4
NDUFS3;KBTBD4
CUI: C0428568
Disease:
Fasting blood glucose measurement
0.700 GeneticVariation GWASDB Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. 22885924 2012
dbSNP: rs2280231
rs2280231
Entrez Id: 4722;55709
Gene Symbol: NDUFS3;KBTBD4
NDUFS3;KBTBD4
CUI: C1261430
Disease:
Fasting blood sugar result
0.700 GeneticVariation GWASDB Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. 22885924 2012
dbSNP: rs142248674
rs142248674
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C4748766
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
0.700 GeneticVariation UNIPROT Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
dbSNP: rs138867882
rs138867882
Entrez Id: 4722;55709
Gene Symbol: NDUFS3;KBTBD4
NDUFS3;KBTBD4
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY
A 0.700 GeneticVariation CLINVAR
dbSNP: rs771783839
rs771783839
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY
A 0.700 GeneticVariation CLINVAR
dbSNP: rs104894270
rs104894270
Entrez Id: 4722
Gene Symbol: NDUFS3
NDUFS3
CUI: C0023264
Disease:
Leigh Disease
0.010 GeneticVariation BEFREE The combined mutation (T145I + R199W) in the subunit is reported to cause optic atrophy and Leigh syndrome accompanied by severe Complex-I deficiency. 24028823 2013