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: rs199422224
rs199422224
0.923 0.036 2 206145009 missense variant T/C snp 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
0.800 1 2001 2001
dbSNP: rs199422224
rs199422224
0.923 0.036 2 206145009 missense variant T/C snp 4.0E-06
CUI: C2936907
Disease: NADH:Q(1) Oxidoreductase deficiency
NADH:Q(1) Oxidoreductase deficiency
0.700 1 2001 2001