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: rs118203929
rs118203929
0.923 0.036 20 13801652 missense variant T/C snp 2.0E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.800 1 2008 2008
dbSNP: rs118203929
rs118203929
0.923 0.036 20 13801652 missense variant T/C snp 2.0E-05
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2008 2008