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: 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: rs104894705
rs104894705
0.846 0.107 19 1391006 missense variant G/A snp 5.6E-05 6.4E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.700 2 1999 1999