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: rs1135402725
rs1135402725
0.851 0.120 11 34995002 stop gained C/T snv 1.2E-05
CUI: C4025276
Disease: Congenital lactic acidosis
Congenital lactic acidosis
Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015