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: rs137853184
rs137853184
0.878 0.107 8 95032093 missense variant A/G snp
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 2 2008 2012
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: rs1057519084
rs1057519084
0.878 0.107 8 95032023 missense variant T/C snp
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 1 2016 2016
dbSNP: rs1057519085
rs1057519085
0.878 0.107 8 95032003 missense variant A/T snp
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I 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: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I 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: rs201732170
rs201732170
0.923 0.036 8 95035527 missense variant T/A,C snp 4.0E-06; 9.2E-05 3.2E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I 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: rs768273248
rs768273248
0.878 0.107 8 95048547 missense variant C/G,T snp 4.0E-06; 8.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 1 2016 2016