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: rs142609245
rs142609245
0.923 0.036 2 201078946 missense variant T/C snp 8.5E-04 8.0E-04
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.800 2 2012 2017
dbSNP: rs142609245
rs142609245
0.923 0.036 2 201078946 missense variant T/C snp 8.5E-04 8.0E-04
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 2 2012 2017