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: rs58639322
rs58639322
1.000 0.080 10 123040605 missense variant C/T snv 8.3E-04 6.6E-04
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2005 2010
dbSNP: rs137852649
rs137852649
1.000 0.080 10 123043127 missense variant C/T snv 1.6E-05
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2006
dbSNP: rs188094280
rs188094280
1.000 0.080 10 123053091 missense variant G/A snv 2.7E-04 2.5E-04
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2008 2010
dbSNP: rs147936696
rs147936696
1.000 0.080 10 123037848 splice donor variant G/A snv 2.5E-04 3.6E-04
2-Methylbutyryl-CoA Dehydrogenase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2010 2010