Source: ALL
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: rs121908418
rs121908418 		1.000 0.080 11 134258589 missense variant T/C snv 6.8E-05 7.0E-05
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 2003 2006
dbSNP: rs200620279
rs200620279 		1.000 0.080 11 134261756 missense variant G/A snv 3.7E-04 2.0E-04
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2006 2007
dbSNP: rs121908422
rs121908422 		1.000 0.080 11 134261338 missense variant G/A snv 4.4E-05 2.1E-05
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2006
dbSNP: rs367857040
rs367857040 		1.000 0.080 11 134258534 stop lost G/T snv 4.0E-06 5.6E-05
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2006
dbSNP: rs367996531
rs367996531 		1.000 0.080 11 134262581 missense variant A/G snv 8.0E-05 6.3E-05
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2006
dbSNP: rs371449613
rs371449613 		1.000 0.080 11 134258543 missense variant G/A snv 2.0E-05 3.5E-05
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2006
dbSNP: rs759877257
rs759877257 		1.000 0.080 11 134259647 missense variant G/A snv 6.8E-05 1.2E-04
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2006
dbSNP: rs778823613
rs778823613 		1.000 0.080 11 134261798 missense variant C/T snv 3.2E-05 7.0E-06
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2003 2006
dbSNP: rs121908419
rs121908419 		1.000 0.080 11 134262556 missense variant G/A snv 6.0E-05 1.5E-04
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2007 2015
dbSNP: rs121908420
rs121908420 		1.000 0.080 11 134261786 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121908421
rs121908421 		1.000 0.080 11 134261300 missense variant C/A;T snv 2.0E-05
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs374317179
rs374317179 		1.000 0.080 11 134258518 missense variant G/A snv 4.4E-05 1.3E-04
CUI: C1969809
Disease: Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs931572188
rs931572188 		1.000 0.040 11 134256593 missense variant C/A;G;T snv 4.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019