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: rs1568523935
rs1568523935
0.776 0.240 19 19105656 stop gained C/G snv
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia
Nutritional and Metabolic Diseases 0.700 0