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: rs121913660
rs121913660
1.000 11 67611511 missense variant C/T snv 3.2E-05 6.3E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
0.700 1.000 2 1999 2001
dbSNP: rs121913661
rs121913661
1.000 11 67610510 missense variant G/A snv 1.4E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
0.800 1.000 2 1999 2001
dbSNP: rs121913659
rs121913659
0.925 0.040 11 67612225 missense variant C/T snv 1.2E-05 3.5E-05
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
0.800 1.000 2 1999 2001