Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
0.800 1.000 0 2012 2012
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
Decreased activity of mitochondrial complex I
0.700 0
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
Inability to walk by childhood/adolescence
0.700 0
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C1848207
Disease: Poor speech
Poor speech
0.700 0
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
Cytochrome C oxidase-negative muscle fibers
0.700 0
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
Attention deficit hyperactivity disorder
0.700 1.000 2 2011 2014
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C4318382
Disease: Cardiac Conduction Defects
Cardiac Conduction Defects
0.700 1.000 2 2011 2014
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies
0.700 1.000 2 2011 2014
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C0002418
Disease: Amblyopia
Amblyopia
0.700 1.000 2 2011 2014
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 2 2011 2014
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 1.000 2 2011 2014
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C4013993
Disease: Bilateral striatal necrosis
Bilateral striatal necrosis
0.700 1.000 2 2011 2014
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.700 1.000 2 2011 2014
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance
0.700 1.000 2 2011 2014
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
0.700 1.000 2 2011 2014
dbSNP: rs201431517
rs201431517
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
0.800 1.000 7 2011 2016