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: 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