Source: UNIPROT

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: rs199476105
rs199476105
ND6
0.801 0.179 MT 14459 missense variant snp
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA
0.800 0 1994 2006
dbSNP: rs199476105
rs199476105
ND6
0.801 0.179 MT 14459 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 0
dbSNP: rs199476105
rs199476105
ND6
0.801 0.179 MT 14459 missense variant snp
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 0