NDUFS3, NADH:ubiquinone oxidoreductase core subunit S3, 4722
N. diseases: 120; N. variants: 9
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 11 | 47580977 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 11 | 47582437 | missense variant | G/A;T | snv | 4.4E-05; 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.160 | 11 | 47582436 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
0.800 | 1.000 | 3 | 2004 | 2018 | |||||||
|
1.000 | 11 | 47582124 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-05 |
|
0.700 | 1.000 | 3 | 2004 | 2018 | |||||||||
|
0.882 | 0.160 | 11 | 47582140 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 3 | 2004 | 2018 | ||||||||
|
11 | 47576929 | intron variant | G/A | snv | 1.0E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 47578886 | 5 prime UTR variant | C/T | snv | 0.24 | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
11 | 47578886 | 5 prime UTR variant | C/T | snv | 0.24 | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.160 | 11 | 47582436 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.882 | 0.160 | 11 | 47582436 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 |
|
Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.882 | 0.160 | 11 | 47582140 | missense variant | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.160 | 11 | 47582140 | missense variant | C/G;T | snv | 4.0E-06 |
|
Eye Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
11 | 47565900 | missense variant | C/T | snv | 3.7E-02 | 3.6E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
11 | 47584931 | upstream gene variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
11 | 47584931 | upstream gene variant | G/A | snv | 0.28 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
11 | 47576929 | intron variant | G/A | snv | 1.0E-02 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 |