Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs771783839
rs771783839
1.000 0.040 11 47582437 missense variant G/A;T snv 4.4E-05; 4.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs138867882
rs138867882
1.000 0.040 11 47580977 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY
Nutritional and Metabolic Diseases 0.700 0