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: 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
dbSNP: rs104894705
rs104894705
NDUFS7
0.846 0.107 19 1391006 missense variant G/A snp 5.6E-05 6.4E-05
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 2 1999 1999
dbSNP: rs121913660
rs121913660
NDUFV1
0.923 0.036 11 67611511 missense variant C/T snp 3.2E-05 3.2E-05
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 1999 1999
dbSNP: rs121434427
rs121434427
NDUFS2
0.923 0.036 1 161209912 missense variant G/A snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 2001 2001
dbSNP: rs121434428
rs121434428
NDUFS2
0.923 0.036 1 161209915 missense variant C/A snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 2001 2001
dbSNP: rs121434429
rs121434429
FCER1G ; NDUFS2
0.923 0.036 1 161213673 missense variant T/C snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 2001 2001
dbSNP: rs121913661
rs121913661
NDUFV1
0.923 0.036 11 67610510 missense variant G/A snp 3.2E-05
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 2001 2001
dbSNP: rs199422224
rs199422224
NDUFS1
0.923 0.036 2 206145009 missense variant T/C snp 4.0E-06
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 2001 2001
dbSNP: rs199422225
rs199422225
NDUFS1
0.923 0.036 2 206146919 missense variant G/A snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 2001 2001
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: rs267606898
rs267606898
ND5
0.821 0.179 MT 13042 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 2 2005 2007
dbSNP: rs104894884
rs104894884
NDUFA1 ; RNF113A
0.821 0.107 X 119871933 missense variant G/C snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 2007 2007
dbSNP: rs104894885
rs104894885
NDUFA1 ; RNF113A
0.801 0.143 X 119873312 missense variant G/A,C snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 2007 2007
dbSNP: rs118203929
rs118203929
NDUFAF5
0.923 0.036 20 13801652 missense variant T/C snp 2.0E-05
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 2008 2008
dbSNP: rs63751061
rs63751061
NDUFAF4 ; KLHL32
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: rs121918134
rs121918134
NDUFAF3 ; DALRD3 ; MIR191
0.923 0.036 3 49022497 missense variant G/A,C snp 4.0E-06
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 2009 2009
dbSNP: rs121918135
rs121918135
NDUFAF3 ; DALRD3
0.923 0.036 3 49022903 missense variant G/C snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 1 2009 2009
dbSNP: rs199476109
rs199476109
ND6
0.846 0.107 MT 14487 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 2 2003 2010
dbSNP: rs199476117
rs199476117
ND3
0.846 0.107 MT 10158 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 2 2004 2010
dbSNP: rs267606890
rs267606890
ND3
0.878 0.107 MT 10191 missense variant snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 2 2001 2010
dbSNP: rs267606913
rs267606913
NDUFS6
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: rs137853184
rs137853184
NDUFAF6
0.878 0.107 8 95032093 missense variant A/G snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency 		0.700 2 2008 2012