rs104894270
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894270
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
|
14729820 |
2004 |
rs104894270
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
|
22499348 |
2012 |
rs104894270
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
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 |
rs104894270
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
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 |
rs104894270
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
|
14729820 |
2004 |
rs104894270
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
|
22499348 |
2012 |
rs28939714
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs28939714
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
|
14729820 |
2004 |
rs28939714
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
|
14729820 |
2004 |
rs28939714
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
|
22499348 |
2012 |
rs28939714
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
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 |
rs142248674
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
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 |
rs142248674
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.
|
14729820 |
2004 |
rs142248674
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
|
22499348 |
2012 |
rs771783839
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs104894270
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
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 |
rs104894270
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
Optic Atrophy
|
|
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 |
rs28939714
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
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 |
rs28939714
|
Entrez Id: |
4722 |
Gene Symbol: |
NDUFS3 |
NDUFS3
|
Optic Atrophy
|
|
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 |
rs11537751
|
NDUFS3;CELF1;PTPMT1
|
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 |
rs11605348
|
NDUFS3;FAM180B
|
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 |
rs11605348
|
NDUFS3;FAM180B
|
Body Height
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
|
28552196 |
2017 |
rs138867882
|
NDUFS3;KBTBD4
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs144915398
|
NDUFS3;KBTBD4
|
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 |