Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs368949613
rs368949613
1.000 3 128906220 missense variant C/T snv 4.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 1.000 8 2007 2016
dbSNP: rs387907041
rs387907041
1.000 3 128879821 missense variant T/A snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 1.000 8 2007 2016
dbSNP: rs387907042
rs387907042
1.000 3 128899450 missense variant G/A snv 1.2E-05 7.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 1.000 8 2007 2016
dbSNP: rs115532916
rs115532916
1.000 3 128904079 missense variant G/A;C snv 1.8E-02; 5.2E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 0
dbSNP: rs377022708
rs377022708
1.000 3 128910051 missense variant C/T snv 7.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.800 0
dbSNP: rs139145143
rs139145143
1.000 3 128909019 missense variant C/T snv 4.0E-04 4.1E-04
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.700 1.000 8 2007 2016
dbSNP: rs1447947184
rs1447947184
1.000 3 128906121 missense variant G/A snv 4.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.700 1.000 8 2007 2016
dbSNP: rs777282696
rs777282696
1.000 3 128906211 missense variant C/A;T snv 4.0E-06; 1.2E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.700 1.000 8 2007 2016
dbSNP: rs781149699
rs781149699
1.000 3 128909411 missense variant G/A snv 8.0E-06 7.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.700 1.000 8 2007 2016
dbSNP: rs863224844
rs863224844
1.000 3 128895321 frameshift variant T/- delins
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.700 1.000 5 2014 2018
dbSNP: rs1057518752
rs1057518752
1.000 3 128910144 missense variant C/G snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.700 0
dbSNP: rs143383023
rs143383023
1.000 3 128902577 missense variant G/A;T snv 4.4E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.700 0
dbSNP: rs149753643
rs149753643
1.000 3 128906208 missense variant G/A snv 2.0E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.700 0
dbSNP: rs377547811
rs377547811
1.000 3 128897654 missense variant C/T snv 6.0E-05 9.8E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.700 0
dbSNP: rs762521317
rs762521317
1.000 3 128896491 missense variant C/T snv 4.0E-06 7.0E-06
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
0.700 0