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: rs369227537
rs369227537
1.000 0.080 16 89550502 stop gained A/T snv 1.4E-04 9.8E-05
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs797046003
rs797046003
1.000 0.080 16 89529575 splice donor variant -/T delins
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017