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: rs121434427
rs121434427
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
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
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: rs142609245
rs142609245
0.923 0.036 2 201078946 missense variant T/C snp 8.5E-04 8.0E-04
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 2 2012 2017
dbSNP: rs199422224
rs199422224
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
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: rs121918134
rs121918134
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
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: 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: 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: rs137853184
rs137853184
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
dbSNP: rs1057519084
rs1057519084
0.878 0.107 8 95032023 missense variant T/C snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2016 2016
dbSNP: rs1057519085
rs1057519085
0.878 0.107 8 95032003 missense variant A/T snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2016 2016
dbSNP: rs1057519086
rs1057519086
0.878 0.107 8 95052177 missense variant A/G snp
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2016 2016
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: 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: rs267606830
rs267606830
0.923 0.036 11 126277517 missense variant A/C,G snp 4.0E-06
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 2 2010 2015
dbSNP: rs387907087
rs387907087
0.923 0.036 11 126276476 missense variant C/T snp 2.4E-05 6.4E-05
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 2 2011 2015
dbSNP: rs121913660
rs121913660
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: rs121913661
rs121913661
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: 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: rs104894705
rs104894705
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: rs118203929
rs118203929
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: rs104894884
rs104894884
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