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
0.878 0.107 15 65021533 missense variant G/A snp 3.5E-04 4.8E-04
CUI: C1848207
Disease: Poor speech
Poor speech
0.700 1 2015 2015
dbSNP: rs201431517
rs201431517
0.878 0.107 15 65021533 missense variant G/A snp 3.5E-04 4.8E-04
Inability to walk by childhood/adolescence
0.700 1 2015 2015
dbSNP: rs201431517
rs201431517
0.878 0.107 15 65021533 missense variant G/A snp 3.5E-04 4.8E-04
Cytochrome C oxidase-negative muscle fibers
0.700 1 2015 2015
dbSNP: rs201431517
rs201431517
0.878 0.107 15 65021533 missense variant G/A snp 3.5E-04 4.8E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 1 2015 2015
dbSNP: rs201431517
rs201431517
0.878 0.107 15 65021533 missense variant G/A snp 3.5E-04 4.8E-04
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs201431517
rs201431517
0.878 0.107 15 65021533 missense variant G/A snp 3.5E-04 4.8E-04
CUI: C4020739
Disease: Respiratory complex I deficiency
Respiratory complex I deficiency
0.700 1 2015 2015
dbSNP: rs201431517
rs201431517
0.878 0.107 15 65021533 missense variant G/A snp 3.5E-04 4.8E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 2 2012 2015
dbSNP: rs201431517
rs201431517
0.878 0.107 15 65021533 missense variant G/A snp 3.5E-04 4.8E-04
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 3 2012 2015
dbSNP: rs201431517
rs201431517
0.878 0.107 15 65021533 missense variant G/A snp 3.5E-04 4.8E-04
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
0.800 8 2012 2017