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: rs28940872
rs28940872
1.000 0.080 12 120739356 missense variant C/T snv 9.7E-05 7.7E-05
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 11 1990 2017
dbSNP: rs61732144
rs61732144
1.000 0.080 12 120737094 missense variant C/T snv 9.7E-04 5.4E-04
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 10 1990 2014
dbSNP: rs28940875
rs28940875
1.000 0.080 12 120739347 missense variant C/G;T snv 4.0E-06; 9.3E-05
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1990 2018
dbSNP: rs57443665
rs57443665
1.000 0.080 12 120737893 missense variant T/C;G snv 4.5E-04
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1990 2013
dbSNP: rs121908003
rs121908003
1.000 0.080 12 120727115 missense variant C/T snv 1.6E-04 1.1E-04
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 7 1990 2017
dbSNP: rs28941773
rs28941773
0.925 0.120 12 120739168 missense variant C/T snv 2.0E-04 2.0E-04
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 7 1990 2011
dbSNP: rs121908006
rs121908006
1.000 0.080 12 120738859 missense variant C/T snv 2.0E-05 6.3E-05
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 1990 2001
dbSNP: rs147442301
rs147442301
1.000 0.080 12 120727143 missense variant C/T snv 3.6E-05 7.0E-06
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2008 2016
dbSNP: rs368469075
rs368469075
1.000 0.080 12 120739304 missense variant G/T snv 3.2E-05 5.6E-05
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2003 2013
dbSNP: rs140853839
rs140853839
1.000 0.080 12 120738874 missense variant C/A;T snv 4.0E-06; 1.4E-04
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2006 2016
dbSNP: rs121908004
rs121908004
1.000 0.080 12 120737049 missense variant G/T snv 3.5E-05
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1990 2001
dbSNP: rs121908005
rs121908005
1.000 0.080 12 120737043 missense variant G/A;T snv 2.1E-05; 4.2E-06
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1990 2001
dbSNP: rs28940874
rs28940874
1.000 0.080 12 120737939 missense variant C/T snv 4.4E-05 5.6E-05
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1990 2001
dbSNP: rs387906308
rs387906308
1.000 0.080 12 120737081 inframe deletion GAG/- delins
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2001 2018
dbSNP: rs387906950
rs387906950
1.000 0.080 12 120739141 missense variant A/G snv 1.0E-04 1.4E-05
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2008 2011
dbSNP: rs752677472
rs752677472
1.000 0.080 12 120737404 stop gained C/G;T snv 3.2E-05; 4.0E-06
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2003 2003
dbSNP: rs1057516421
rs1057516421
1.000 0.080 12 120739373 frameshift variant TG/- del 8.1E-06
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1057516848
rs1057516848
1.000 0.080 12 120737891 stop gained C/A snv
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1555244366
rs1555244366
1.000 0.080 12 120739196 splice donor variant G/- delins
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1800556
rs1800556
1.000 0.080 12 120737875 missense variant C/T snv 2.4E-05; 3.1E-02 3.2E-02
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs786204691
rs786204691
1.000 0.080 12 120738336 frameshift variant GA/- delins
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1057516231
rs1057516231
1.000 0.080 12 120737835 splice acceptor variant A/G snv
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516385
rs1057516385
1.000 0.080 12 120737090 frameshift variant C/- del
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516436
rs1057516436
1.000 0.080 12 120738326 frameshift variant -/G delins
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516566
rs1057516566
1.000 0.080 12 120736985 splice acceptor variant G/A snv
Deficiency of butyryl-CoA dehydrogenase
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0