Disease | N. SNPs d | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AFEXOME | AFGENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Cytochrome C oxidase-negative muscle fibers
|
1 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 0 | |||||||
Decreased activity of mitochondrial complex I
|
3 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 0 | |||||||
Dysmorphic facies
|
106 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 0 | |||||||
Inability to walk by childhood/adolescence
|
2 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 0 | |||||||
Poor speech
|
9 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 0 | |||||||
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
|
11 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.800 | 1.000 | 7 | 2011 | 2016 | ||||
Amblyopia
|
29 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
Attention deficit hyperactivity disorder
|
420 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
Bilateral striatal necrosis
|
1 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
Cardiac Conduction Defects
|
1 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
Developmental delay (disorder)
|
68 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
Impaired exercise tolerance
|
7 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
Leigh Disease
|
114 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
Mitochondrial Encephalomyopathies
|
11 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
Neurodegeneration Due To Cerebral Folate Transport Deficiency
|
5 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
Short stature
|
292 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
|
2 | 0.827 | 0.200 | 15 | 65021533 | missense variant | G/A | snv | 3.5E-04 | 5.7E-04 | 0.800 | 1.000 | 1 | 2012 | 2012 |