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: rs121913502
rs121913502
0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05
Combined D-2- and L-2-hydroxyglutaric aciduria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs267606870
rs267606870
0.763 0.280 15 90088703 missense variant G/A;C snv
Combined D-2- and L-2-hydroxyglutaric aciduria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011