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: rs199476123
rs199476123
ND1
0.878 0.179 MT 3946 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2014 2014
dbSNP: rs201732170
rs201732170
0.923 0.036 8 95035527 missense variant T/A,C snp 4.0E-06; 9.2E-05 3.2E-05
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2016 2016
dbSNP: rs267606895
rs267606895
ND5
0.821 0.214 MT 13045 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2004 2004
dbSNP: rs267606913
rs267606913
0.923 0.036 5 1815885 missense variant G/A snp 4.0E-06
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2010 2010
dbSNP: rs397515440
rs397515440
0.923 0.036 14 31599310 missense variant G/T snp 2.0E-05 3.2E-05
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2013 2013
dbSNP: rs552722349
rs552722349
0.923 0.036 14 31787845 missense variant A/C,G snp 2.8E-05 6.4E-05
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2013 2013
dbSNP: rs63751061
rs63751061
0.923 0.036 6 96896790 missense variant A/G snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2008 2008
dbSNP: rs768273248
rs768273248
0.878 0.107 8 95048547 missense variant C/G,T snp 4.0E-06; 8.0E-06
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2016 2016
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: rs267606891
rs267606891
ND3
0.744 0.179 MT 10197 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 0
dbSNP: rs267606893
rs267606893
ND5
0.756 0.107 MT 12706 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 0
dbSNP: rs267606897
rs267606897
ND5
0.821 0.179 MT 13513 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 0